Chapter 17: Amyotrophic Lateral Sclerosis

Motor neuron diseases (MND) include a heterogeneous spectrum of inherited and sporadic (no family history) clinical disorders of the upper motor neurons (UMNs), lower motor neurons (LMNs), or a combination of both¹ (Table 17.1). Amyotrophic lateral sclerosis (ALS),^∗ commonly known as Lou Gehrig's disease, is the most common and devastatingly fatal MND among adults. ALS is characterized by the degeneration and loss of motor neurons in the spinal cord, brainstem, and brain, resulting in a variety of UMN and LMN clinical signs and symptoms.²

It is estimated that 30,000 individuals in the United States have ALS at any one time and 15 cases are diagnosed every day. Except in a very few high-incidence areas, such as Guam and the Kii Peninsula of Japan (geographical foci, Western Pacific form of ALS), the overall incidence of ALS has been reported to be in the range of 0.4 to 2.4 cases per 100,000, with the incidence increasing with each decade of life, until at least the seventh decade. The prevalence of ALS has been reported to be 4 to 10 cases per 100,000.^3,4,5,6,7

Although ALS can occur at any age, the average age at onset is the mid-to-late 50s.^4,5,7,8 Most studies have found that the disease affects men slightly more than women, with an approximate ratio of 1.7:1;^3,5,6 how ever, after age 65, this gender-related incidence is less pronounced.³ In about 5% to 10% of individuals the disease is inherited as an autosomal dominant trait (familial ALS [FALS]),^3,9,10 although rare cases of juvenile-onset ALS are inherited in an autosomal recessive pattern.¹¹ Of the hereditary adult ALS cases, approximately 20% are a result of one of more than 100 mutations in superoxide dismutase 1 (SOD1),^12,13 a gene that encodes the copper-zinc superoxide dismutase enzyme. The very large majority of adult individuals with ALS have no family history of the disease (sporadic ALS), although a very small percentage of individuals with sporadic ALS do have a mutation in SOD1.^14,15

Approximately 70% to 80% of individuals develop limb-onset ALS, with initial involvement in the extremities; 20% to 30% develop bulbar-onset ALS, with initial involvement in the bulbar muscles.^6,16,17 Bulbar-onset ALS is more common in middle-aged women, and initial symptoms may include difficulty speaking, chewing, or swallowing.^2,6

Epidemiologic evidence has identified several known and possible risk factors for ALS (Fig. 17.1). However, other than the small percentage of hereditary (FALS) cases, etiology for the most part is unknown. It is thought that no one single mechanism but rather multiple or cumulative mechanisms, including oxidative stress, exogenous neurotoxicity, excitotoxicity, impaired axonal transportation, protein aggregation, apoptosis (programmed cell death), and lifestyle factors, may be responsible for neuron degeneration in ALS:¹³

1. Superoxide dismutases are a group of enzymes that eliminate oxygen free radicals that, although products of normal cell metabolism, have been implicated in neurodegeneration. There are three isoforms of SOD in humans: cytosolic copper-zinc superoxide dismutase (CuZnSOD), mitochondrial manganese superoxide dismutase (MnSOD), and extracellular superoxide dismutase (ECSOD). SOD1, a gene on chromosome 21, encodes CuZnSOD. Genetic studies of individuals with adult-onset FALS have determined that about 20% of these individuals have mutations in SOD1; however, the primary gene defect is unknown. When the SOD enzyme activity is decreased, as has been observed in individuals with FALS with SOD1 mutations, free radicals may accumulate causing damage.^13,18,19 Most mutations identified in FALS show modest loss in enzyme activity,²⁰ suggesting the mutant SOD-1 protein may have toxic properties that cause motor neurons to die. However, the mechanism has yet to be determined.¹³

2. Glutamate, an excitatory neurotransmitter, has also been implicated in neurodegeneration. Excess glutamate triggers a cascade of events leading to cell death.¹³ Increased levels of glutamate in the cerebrospinal fluid (CSF), plasma, and in postmortem tissue of individuals with ALS have been reported.^21,22 A deficiency in excitatory amino acid transporters 2 (EAAT2), a specific glutamate transporter protein, in the motor cortex and spinal cord of postmortem ALS tissue was reported and lends support to the theory of excitotoxicity causing neurodegeneration.^23,24

3. Clumping of neurofilament proteins into spheroids in the cell body and proximal axon is one of the histopathological characteristics of ALS.^13,25,26 Whether or not abnormal accumulation is secondary to the pathology or contributes to motor neuron degeneration has yet to be determined.¹³

4. Several studies have implicated an autoimmune reaction in the etiology of ALS.^7,27,28,29 For example, serum factors toxic to anterior horn motor neurons in individuals with ALS have been reported,²⁷ and antibodies to calcium channels have been identified in individuals with ALS.²⁹

5. It has been hypothesized that a lack of neurotrophic factors could contribute to the development of ALS and other neurodegenerative disorders.³⁰ In vivo experiments and experiments with isolated motor neurons in cell culture have shown that neurotrophic factors are important in motor neuron survival.^31,32 However, factor deficits in ALS have not been conclusive. For example, a postmortem study found decreased amounts of ciliary neurotrophic factor (CNTF) in the ventral horn of the spinal cord, but not in the motor cortex; nerve growth factors were decreased in the motor cortex, but increased in the lateral column of the spinal cord.³³

6. Other potential theories thought to contribute to neurodegeneration in ALS, which have anecdotal, limited, or indirect evidence, include exogenous or environmental factors,³⁴ apoptosis,³⁵ and viral infections.³⁶

Amyotrophic lateral sclerosis is characterized by a progressive degeneration and loss of motor neurons in the spinal cord, brainstem, and motor cortex (Fig. 17.2). UMNs in the cortex are affected, as are the corticospinal tracts. Brainstem nuclei for cranial nerves V (trigeminal), VII (facial), IX (glossopharyngeal), X (vagus), and XII (hypoglossal) and anterior horn cells in the spinal cord are also involved.² Brainstem nuclei for cranial nerves controlling external ocular muscles (III: oculomotor, IV: trochlear, and VI: abducens) are usually spared; if degeneration occurs, it does so late in the course of the disease.³⁷ Motor neurons of the Onufrowicz nucleus (Onuf's nucleus), located in the ventral margin of the anterior horn in the second sacral spinal level, are also generally spared; if they are affected, it is to a very limited extent.^38,39 These neurons control striated muscles in the pelvic floor, including anal and external urethral sphincters.⁴⁰

The sensory system and spinocerebellar tracts are also generally spared in ALS. Some studies suggest that sensory neurons may be involved in ALS, but to a much lesser extent than the motor neurons. Morphological studies have found that peripheral sensory nerves exhibit axonal atrophy, demyelination, and degeneration,^41,42 and dorsal root ganglia cells at autopsy reveal loss of large ganglion cells.⁴³ Degeneration of Clarke's neurons and of the spinocerebellar tracts has also been reported.^44,45,46 Degeneration of the spinocerebellar tracts is a well-recognized pathological feature of FALS and has been described in sporadic ALS, although it is rare.⁴⁴ Posterior column degeneration is more common in FALS, but is rare in sporadic ALS.⁴⁷

As motor neurons degenerate, they can no longer control the muscle fibers they innervate. Healthy, intact surrounding axons can sprout and reinnervate the partially denervated muscle⁴⁸ (Fig. 17.3), in essence assuming the role of the degenerated motor neuron and preserving strength and function early in the disease; however, the surviving motor units undergo enlargement.^49,50 Reinnervation can compensate for the progressive degeneration until motor unit loss is about 50%,^49,50 and electromyography (EMG) studies have found evidence of motor unit reinnervation in individuals with ALS.^51,52 As the disease progresses, reinnervation cannot compensate for the rate of degeneration,⁵¹ and a variety of impairments develop (Table 17.2).

The progression of ALS is thought to spread in a contiguous manner, e.g., within spinal cord segments (cervical segments to cervical segments), before developing rostral or caudal symptoms.^17,53 Thus, signs and symptoms spread locally within a region (e.g., bulbar, cervical, thoracic, lumbosacral) before moving to other regions. Caudal-to-rostral spread within the spinal cord and spread from the cervical to bulbar region appears to occur faster than rostral-to-caudal spread within the spinal cord.^17,53

Clinical manifestations of ALS vary depending on the localization and extent of motor neuron loss, the degree and combination of LMN and UMN loss, pattern of onset and progression, body region(s) affected, and stage of the disease. At onset, signs or symptoms are usually asymmetrical and focal.² Progression of the disease leads to increasing numbers and severity of impairments.

Impairments Related to LMN Pathology

The most frequent presenting impairment, occurring in the majority of patients, is focal, asymmetrical muscle weakness beginning in the lower extremity (LE) or upper extremity (UE), or weakness of the bulbar muscles.^3,7 Muscle weakness is considered the cardinal sign of ALS and may be caused by LMN or UMN loss. The weakness associated with LMN loss causes more significant dysfunction than the weakness from UMN loss.⁵⁴ Initial muscle weakness usually occurs in isolated muscles, most often distally, and is followed by progressive weakness and activity limitations.^2,54 For example, at onset an individual may notice difficulty with fine motor movements, such as buttoning, pinching, or writing, or may notice foot "slapping" or increased frequency of tripping while walking. Individuals with bulbar onset may notice changes in their voice, difficulty moving the tongue, or decreased ability to move the lips or open or close the mouth.

In people with ALS, cervical extensor weakness is typical.^2,54 Individuals may initially notice neck stiffness, feel "heavy-headed" after reading or writing, or may have difficulties stabilizing the head with unanticipated movements, such as in an accelerating car. As weakness progresses, the head may begin to fall forward, and in more advanced stages the neck becomes completely flexed with the head dropped forward, causing cervical pain and impairments in ambulation and feeding (Fig. 17.4).

Muscle weakness leads to secondary impairments, including decreased range of motion (ROM), predisposing the patient to joint subluxation (e.g., shoulder), tendon shortening (e.g., Achilles), joint contractures (commonly claw-hand deformity), and adhesive capsulitis. Weakness also results in ambulation difficulties, deconditioning, and impaired postural control and balance. Foot drop, secondary to distal weakness, and instability, secondary to proximal weakness, are common. The pattern and progression of LE weakness are characterized by greater losses of muscle force in distal muscles compared to proximal muscles.^55,56 A retrospective study found that decreases in walking ability from independent walking, to walking in the community with assistance, to walking only at home, to being unable to walk were precipitated by relatively small changes in muscle force.⁵⁶ Falls are also common, reported to occur in 46% of individuals with ALS.⁵⁷

Several factors affect fatigue levels in patients with ALS. As motor neurons die, the remaining neurons or sprouted neurons are overburdened. Weak muscles must work at a higher percentage of their maximal strength to perform the same activity. This hastens muscle fatigue.⁵⁸ Fatigue may also be related to sleep disturbances, respiratory impairments, hypoxia, and depression. Sanjak et al⁵⁹ demonstrated that individuals with ALS have abnormal physiological and metabolic responses to single bouts of exercise. Sharma et al⁶⁰ found that in individuals with ALS, tetanic and maximal voluntary force during sustained contraction were decreased compared to controls. No impairment was found in the muscular membrane or neuromuscular transmission, suggesting that muscle fatigue in ALS, in part, is due to impaired contraction activation.⁶⁰

As muscle fibers progressively denervate, their volume decreases resulting in atrophy. Fasciculations, random spontaneous twitching of muscle fibers often seen through the skin, are common in individuals with ALS, although they are rarely an initial symptom. The etiology of fasciculations remains unclear and is thought to be related to hyperexcitability of motor axons.⁵⁴

Other LMN signs include hyporeflexia, decreased or absent reflexes, decreased muscle tone or flaccidity, and muscle cramping.^2,54 The etiology of muscle cramping is not well understood and is also thought to be related to hyperexcitability of motor axons. In individuals with ALS, muscle cramps can occur in uncommon sites such as the tongue, jaw, neck, or abdomen, as well as in the UEs, hands, and calf or thigh.²

Sensory pathways are spared for the most part in people with ALS; however, some patients may complain of ill-defined paresthesia or pain in the limbs. Pain can occur, especially when muscle weakness and spasticity lead to immobility, adhesive capsulitis, or contractures. Cramps and spasticity are other sources of pain, as is increased pressure on the skin, bones, and joints owing to immobility.^2,54

Impairments Related to UMN Pathology

UMN loss is characterized by spasticity, hyperflexia, clonus, and pathological reflexes, such as a Babinski or Hoffmann sign, and may also cause muscle weakness. As the disease progresses, UMN signs may decrease.^2,54

Spasticity can eventually lead to contractures and deformities, as well as cause dyssynergic movement patterns, abnormal timing, loss of dexterity, and fatigue, all of which affect motor control and function.^61,62 For example, difficulties with the swing phase of gait secondary to distal spasticity and decreased balance owing to generalized spasticity are often seen in individuals with ALS.

Impairments Related to Bulbar Pathology

As bulbar UMNs and LMNs degenerate, spastic bulbar palsy or flaccid bulbar palsy (respectively) develops. In individuals with ALS a mixed palsy, which includes both flaccid and spastic components, is common.⁵⁴

Dysarthria, impaired speech, can occur with either spastic or flaccid palsy, owing to weakness of the tongue and muscles of the lip, jaw, larynx, and pharynx. Initial symptoms include the inability to project the voice (e.g., shouting, singing) and problems with enunciation. With spastic dysarthria, the voice sounds forced, as more effort is needed to move air through the upper airway; whereas in flaccid dysarthria, the voice sounds hoarse or breathy. With pharyngeal weakness, air in the mouth leaks into the nose during enunciation, resulting in a nasal tone. As the disease progresses, speech becomes more difficult and unintelligible, and eventually the individual becomes anarthric.^2,54

Dysphagia, impaired chewing or swallowing, can also occur with either spastic or flaccid palsy. Manipulating food inside the mouth or moving food into the esophagus is difficult, and swallowing is impaired. With flaccid bulbar palsy, liquids may regurgitate into the nose because of pharyngeal weakness and the cough reflex may be weak or absent, greatly increasing the risk of aspiration. Individuals with spastic bulbar palsy will have uncoordinated closure of the epiglottis, which may allow liquids or solids to pass to the larynx.^2,54 Choking and slowed eating pattern are associated with dysphagia, placing the patient at risk for less than optimal fluid and caloric intake that results in weight loss and potentially cachexia.⁵⁴

Individuals with ALS frequently experience sialorrhea, excessive saliva and drooling, because of an absence of automatic, spontaneous swallowing to clear excessive saliva, or because the lower facial muscles are too weak to close the lips tightly to prevent leakage.⁵⁴ Individuals with bulbar onset will experience this symptom relatively early. Initially, the individual may begin to notice drooling at night (e.g., the pillow is wet in the morning); this eventually leads to needing to use a tissue repeatedly to wipe away the saliva.

Pseudobulbar affect is a term used to describe poor or pathological emotional control.⁶³ Spontaneous crying or laughter occurs in the absence of emotional triggers or emotional responses are exaggerated and not related to the context.⁶³ This symptom is commonly seen in individuals with spastic bulbar palsy,^2,54 and can occur in as many as 50% of individuals.⁶⁴

Respiratory Impairments

Respiratory impairments in people with ALS are related to loss of respiratory muscle strength and a decrease in vital capacity (VC). A VC reduced to 50% of predicted is often associated with respiratory symptoms.⁶⁵ Early signs and symptoms of respiratory muscle weakness may include fatigue, dyspnea on exertion, difficulty sleeping in supine, frequent awakening at night, recurrent sighing, excessive daytime sleepiness, and morning headaches due to hypoxia.^66,67 Patients experiencing a gradual increase in respiratory muscle weakness will not complain of respiratory symptoms because they tend to decrease their overall level of physical activity owing to muscle weakness in the extremities.⁶⁸ Although the decline of respiratory muscle strength differs among individuals, for the most part it tends to progress at a linear rate.⁶⁹ As weakness progresses, truncated speech, orthopnea, dyspnea at rest, paradoxical breathing, accessory muscle use, and a weak cough are typically evident. A VC of less than 25% to 30% of predicted indicates significant risk of impending respiratory failure or death.⁶⁵ If an individual does not receive ventilatory support, eventual CO₂ retention will lead to acidosis, coma, and respiratory failure.⁶⁸

Cognitive Impairments

Although once considered rare outside the western Pacific region, cognitive impairments ranging from mild deficits⁷⁰ to severe frontotemporal dementia (FTD)⁷¹ are now considered part of the ALS disease spectrum.⁷² A large prospective study found that 35.6% of patients with ALS showed clinically significant cognitive impairment.⁷³ ALS-associated FTD has been characterized by cognitive decline; executive functioning impairments; difficulties with planning, organization, and concept abstraction; and personality and behavior changes.^71,74,75,76 Individuals with ALS, without FTD, have been reported to have a variety of cognitive impairments, including difficulties with verbal fluency, language comprehension, memory, abstract reasoning, and generalized impairments in intellectual function.^73,76,77,78 Studies have found that patients with bulbar-onset ALS are more likely to have cognitive impairments than patients with limb-onset disease.^76,77

Rare Impairments

Sensory pathways are spared, for the most part, in people with ALS. Some individuals may complain of vague, ill-defined sensory symptoms of paresthesia or focal pain in the limbs.⁵⁴ External ocular muscles are usually spared in people with ALS; if degeneration occurs, it does so late in the course of the disease.³⁷ Patients who have been maintained on ventilators for long periods of time may develop the inability to voluntarily close the eyes or ophthalmoplegia, complete ocular paralysis.³⁷

Motor neurons controlling the anal and vesicourethral sphincter muscles and muscles of the pelvic floor are generally spared. Urinary symptoms, such as urgency, obstructive micturition, or both, have been reported, suggesting that supranuclear control over sympathetic, parasympathetic, and somatic neurons may be abnormal in ALS.⁵⁴

With the exception of one genetic test, no definitive diagnostic test or diagnostic biological marker exists for ALS. For individuals with a clinical presentation of ALS, laboratory studies, EMG, nerve conduction velocity (NCV) studies, muscle and nerve biopsies, and neuroimaging studies are used to support the diagnosis of ALS and to exclude other diagnoses.

The diagnosis of ALS requires the presence of (1) LMN signs by clinical, electrophysiological, or neuropathological examination; (2) UMN signs by clinical examination; and (3) progression of the disease within a region or to other regions by clinical examination or via the medical history. The absence of (1) electrophysiological and pathological evidence of other diseases that may explain the UMN and LMN signs; and (2) neuroimaging evidence of other disease processes that may explain the observed clinical and electrophysiological signs are also evaluated.⁷⁹

Because of the variability in clinical findings in the early stages of ALS and the lack of absolute biological diagnostic markers, the World Federation of Neurology Research Group on Motor Neuron Diseases established the El Escorial criteria in 1994, and these were revised in 1998.⁷⁹ These widely accepted criteria are considered standard for the diagnosis of ALS for clinical practice, therapeutic trials, and other research purposes. In the absence of pathological evidence, the diagnosis of ALS is classified into clinically definite, clinically probable, clinically probable with laboratory support, and clinically possible categories (Fig. 17.5).⁷⁹ A diagnosis of clinically definite ALS is defined as both UMN and LMN findings in at least three of four regions (bulbar, cervical, thoracic, or lumbosacral) or UMN and LMN signs in the bulbar region and at least two spinal regions. Clinically probable ALS is defined as UMN and LMN signs in two regions, with at least one UMN finding rostral to the LMN findings. Clinically probable, laboratory-supported ALS is defined as UMN and LMN clinical signs in one region only, or UMN signs alone present in one region and LMN signs defined by EMG criteria present in at least two regions. The EMG criteria include signs of active denervation, such as fibrillation potentials and positive sharp waves; and signs of chronic denervation, such as large motor unit potentials (increased duration, increased proportion of polyphasic potentials, increased amplitude) and unstable motor unit potentials. Clinically possible ALS is defined as UMN and LMN signs found together in only one region, or UMN signs found alone in two or more regions, or LMN signs found rostral to UMN signs and the inability to establish a diagnosis of clinically probable, laboratory-supported ALS.⁷⁹

ALS has a progressive and deteriorating disease trajectory, and the progression from pathology to impairments to activity limitations to participation restrictions is inevitable. Although the disease course varies among individuals, with time from onset to death ranging from several months to 20 years, studies have found the average duration of ALS to be between 27 and 43 months, and the median duration to be between 23 and 52 months.^3,5,7,80,81 Five-year and ten-year survival rates range from 9% to 40% and 8% to 16%, respectively.^7,80,82,83 A 50% survival probability after the first symptom of ALS appears is slightly greater than 3 years, unless mechanical ventilation is used to sustain breathing.⁶ In most patients, death occurs within 3 to 5 years after diagnosis and usually results from respiratory failure.⁵

Age at time of onset has the strongest relationship to prognosis. Studies have found that patients less than 35 to 40 years of age at onset had better 5-year survival rates than older individuals.^5,6,81,84,85 Individuals with limb-onset ALS have a better prognosis than those with bulbar-onset ALS; 5-year survival rates were reported to be 37% and 44%, compared to survival rates of 9% and 16% for patients with bulbar-onset ALS.^84,85 Less severe involvement at the time of diagnosis, a longer interval between onset and diagnosis, and no symptoms of dyspnea at onset are other factors associated with a better prognosis.^5,6,86

A study of 144 individuals with ALS found that those individuals with psychological well-being had significantly longer survival times compared to those with psychological distress. Mortality rates were found to be 6.8 times greater in those experiencing psychological distress, and the relationship was independent of age, disease severity, and length of time from diagnosis.⁸⁷ These findings were confirmed in a later study that found degree of physical disability, disease progression, and survival could be predicted by the patient's psychological status.⁸⁸

Patients with ALS may receive care in a variety of health care settings. Care via specialized centers or clinics that provide a comprehensive and multidisciplinary approach is considered the most advantageous owing to the progressive nature of the disease and continually changing patient status (Fig. 17.6). A study comparing a cohort of patients attending a multidisciplinary clinic versus those attending a general neurology practice found the median survival of the ALS clinic cohort was 7.5 months longer than for patients in the general neurology cohort. The findings indicated that attendance at the ALS clinic was an independent covariate of survival, suggesting that active and aggressive management enhances survival.⁸⁹

The Amyotrophic Lateral Sclerosis Association (ALSA) and the Muscular Dystrophy Association (MDA), nonprofit voluntary health agencies, have developed standards for ALS clinics and centers. Clinics and centers that meet ALSA's standards and pass a rigorous application and site visit are certified as ALSA Centers. MDA centers that conduct ALS research and have staff with expertise in dealing with ALS earn special designations as MDA ALS Research and Clinical Centers.

Disease-Modifying Agents

Currently, there is no cure for ALS, although a number of clinical drug trials are ongoing. In 1995, the Food and Drug Administration approved riluzole (Rilutek), a glutamate inhibitor, for the treatment of ALS. The standard dose of riluzole is one 50 mg tablet two times a day, and side effects include liver toxicity (which requires discontinuation), asthenia, nausea, vomiting, and dizziness. Evidence suggests the effects of riluzole to be modest, extending survival for 2 to 3 months.^90,91

Symptomatic Management

Disease-modifying agents currently available are not curative and may extend survival for a very short time. Because the pathological process cannot be reversed and is progressive in nature, the context of medical management for individuals with ALS may be considered palliative. As defined by the World Health Organization, palliative care is "an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness, through the prevention and relief of suffering by means of early identification and impeccable assessment and treatment of pain and other problems, physical, psychosocial and spiritual."^{92, p. 1}

Although there is no cure for ALS, it is still considered a "treatable disease" and rehabilitation plays an integral role in the overall comprehensive care of the patient. Medical management is symptomatic and individualized and involves supportive care to address impairments as they arise. Medical management may include the prescription of anti-cramping and antispasticity agents, drying agents for sialorrhea, and antidepressants; recommendations and referrals for percutaneous endoscopic gastrostomy tubes and ventilatory support (noninvasive ventilation, tracheostomy); and discussion of advanced care directives.^2,54,93

In 1999 a multidisciplinary task force was established to develop consensus-based recommendations for the management of people with ALS and these recommendations were recently updated.^94,95 Research and clinical evidence related to the care of individuals with ALS in several keys areas were examined: (1) informing the patient and family about the diagnosis and prognosis; (2) management of communication problems, insomnia, anxiety, depression, spasticity, fatigue, cramps, sialorrhea, and pseudobulbar affect; (3) nutrition management and percutaneous endoscopic gastrostomy (PEG) decisions; (4) management of respiratory insufficiency and ventilation decisions; (5) diagnosis and management of cognitive and behavioral impairments; (6) drug therapies; and (7) multidisciplinary management and palliative care. Clinical decision making algorithms (practice parameters) for the management of nutrition and respiratory signs and symptoms are presented in Figures 17.7 and 17.8. Full guidelines for other recommendations and information regarding definitions of the levels of recommendations and classifications of evidence can be found at the American Academy of Neurology website (www.aan.com).

Management of Sialorrhea and Pseudobulbar Affect

Management of sialorrhea in people with ALS and other diseases is often directed toward prescription of anticholinergic medications that decrease saliva production. Examples include glycopyrrolate (Robinul), benztropine (Cogentin), transdermal hyoscine (scopolamine), atropine, and trihexyphenidyl hydrochloride (Artane).⁹³ For patients with associated thick mucus production, beta-blockers such as propranolol (Inderal) or metoprolol (Toprol) are often prescribed. Botulinum type injections into the parotid and submandibular glands and low-dose radiation have been found to be effective for individuals with ALS with medically refractory sialorrhea.⁹⁶ Use of mechanical suction to remove oropharyngeal secretions and nonpharmacological treatments that are used for clearing respiratory secretions (see section below titled Management of Respiratory Impairments) may also be useful.

For patients with pseudobulbar affect, tricyclic antidepressants, such as amitriptyline (Elavil), or selective serotonin reuptake inhibitors (SSRIs), such as fluvoxamine (Luvox), are often prescribed.⁹³ Research has found that a fixed-dose combination of dextromethorphan/quinidine reduced the severity and frequency of crying and laughing behaviors. However, side effects, including somnolence, dizziness, and nausea, were common.⁹⁶

Management of Dysphagia

Early, mild dysphagia is addressed by a nutritionist or registered dietitian together with a speech-language pathologist (SLP). Speech-language pathologists conduct swallowing examinations such as video fluoroscopy to determine the degree and nature of the swallowing impairment and to assist in formulating a plan of care (POC). Nutritionists provide counseling and diet management throughout the course of the disease.

Nutrition status has been identified as a prognostic factor for survival and disease complications.⁹⁶ A study of 1,600 hospitalized patients with ALS found the most common concurrent diagnosis was dehydration and malnutrition, present in 36% of patients.⁹⁷ Regardless of whether poor nutritional status results from dysphagia, hypermetabolism, or inability to eat due to UE muscle weakness, research findings emphasize the need for careful attention to nutritional and hydration status, in particular with individuals with impaired oral intake or arm or hand weakness limiting self-feeding.

Initial treatment of dysphagia is directed toward (1) dietary modifications, such as adapting foods and fluid consistencies for easier and safer swallowing; (2) patient education regarding dietary strategies for maximizing calories and nutrients and maintaining adequate hydration; and (3) adaptations to promote swallowing such as tucking the chin down during swallowing or performing a clearing cough after each swallow.⁹⁸

As dysphagia progresses, the time required to consume a meal gradually increases owing to fatigue, increased difficulty chewing, and frequent choking. It is not uncommon for these eating difficulties to cause an accelerated weight loss. In these circumstances a PEG may be recommended. A PEG is a type of gastrostomy tube inserted via endoscopic surgery that creates a permanent opening into the stomach for the introduction of food. A PEG is useful for stabilizing body weight/mass.⁹⁴ Although there is no firm evidence, for optimal safety and efficacy the PEG procedure should be offered to the patient and completed before the individual's VC falls below 50% of predicted at the time of the procedure.⁹⁹ Studies have found that PEG insertion may prolong survival. Patients with PEG were found to live 1 to 4 months longer than those individuals who refused PEG or were deemed ineligible for the procedure. Survival was greatest for patients with a VC greater than 50% predicted at the time of the procedure.^100,101 It is important for physical therapists to be aware that a PEG does not prevent the risk of aspiration.^102,103

Management of Respiratory Impairments

Respiratory impairments place the patient at risk for respiratory tract infections. Important management considerations include (1) pneumococcal and yearly influenza vaccinations;⁶⁸ (2) prevention of aspiration; and (3) effective oral and pulmonary secretion management. Supplemental oxygen must be used with caution because it can suppress respiratory drive, exacerbate hypoventilation, and ultimately lead to hypercarbia and respiratory arrest. Typically, supplemental oxygen is recommended only for individuals with concomitant pulmonary disease or as a comfort measure for patients who decline ventilatory support.⁶⁸

When VC decreases to 50% of predicted, positive-pressure noninvasive ventilation (NIV) is recommended.^68,99 Noninvasive ventilation has been shown to decrease symptoms of hypoventilation and increase survival time by several months.^{104,105,106,107} In addition, improvement in cognition has been noted after NIV initiation.⁸⁹ When NIV can no longer be tolerated or it is no longer effective, a decision must be made between invasion ventilation (IV) with tracheostomy via surgical intervention or hospice care to address late-stage respiratory symptoms. Owing to the emotional, social, and financial burden of IV, patients and families must be carefully informed of the multiple costs and benefits of the intervention. No controlled studies of specific strategies for ventilation withdrawal have been published, although case studies provide practical advice.⁹⁴ Conditions for withdrawal of ventilation are discussed before, or at the time of, instituting IV because the patient may become unable to communicate his or her wishes as the disease progresses.^68,99

Manually assisted coughing techniques and use of a mechanical insufflation–exsufflation (MI-E) device are used to facilitate clearance of respiratory and oral secretions⁹⁴ (Fig. 17.9). The MI-E device is designed to inflate the lung with positive pressure and assist cough with negative pressure through the flip of a switch. A positive-pressure breath of 30 to 50 cm H₂O over a 1- to 3-second period via an oral–nasal mask or tracheal airway is provided. The airway pressure is then reversed abruptly to –30 to –50 cm H₂O and maintained for 2 to 3 seconds. A peak expiratory "cough" flow within normal range is achieved, thereby assisting with the clearance of secretions.¹⁰⁸

Management of Dysarthria

Dysarthria impairments are managed primarily by a speech-language pathologist. Initial speech changes are usually managed with intelligibility strategies, such as having the individual exaggerate articulation or decrease the rate of speech; and environmental modifications, such as decreasing background noise. As the severity of dysarthria progresses, management will focus on decreasing the patient's dependence on speech as the primary method of communication. Interventions first include "low-tech" devices, such as using a writing board or pad and pen for patients with adequate hand function or using an alphabet board. A progression is then made to more "high-tech" devices, such as computers with voice synthesizers or single-switch, scanning computerized communication systems.^109,110

A palatal lift prosthesis may be prescribed for individuals with good articulation but who have a breathy voice quality or decreased loudness because of excessive air loss through the nose. The device, a dental appliance designed to attach to the existing teeth and to elevate the soft palate, is custom-made by a prosthodontist. It allows the soft palate to close around the surrounding structures such as the pharynx, making verbal communication more understandable by reducing or eliminating hypernasal speech. The device also lowers the hard palate, which reduces tongue movement allowing speech to be less fatiguing.¹¹⁰ Findings from a retrospective study of 25 patients with ALS treated with a palatal lift indicated 21 patients showed improvement in their dysarthria, specifically in reduction of hypernasality, with 19 patients benefiting at least moderately for 6 months.¹¹¹

Management of Muscle Cramps, Spasticity, Fasciculations, and Pain

Anticonvulsant medication such as phenytoin (Dilantin) and carbamazepine (Atretol, Tegretol) may be prescribed for muscle cramps, if they are not relieved with a program of muscle stretching and adequate hydration and nutrition. Both of these medications can cause gastrointestinal upset and rash, and carbamazepine can cause sedation. Benzodiazepines, such as diazepam (Valium), clonazepam (Klonopin), or lorazepam (Ativan), can also be prescribed for muscle cramps, and side effects may include sedation, dizziness, respiratory depression, and increased weakness. Benzodiazepines, especially diazepam, may be prescribed for spasticity, although baclofen (Lioresal) and tizanidine (Zanaflex) are more commonly used. Side effects include weakness, fatigue, sedation, and hypotension.^54,111

Patients with brisk, widespread fasciculations are generally instructed to avoid or minimize caffeine and nicotine. Lorazepam (Ativan) may be prescribed to decrease the intensity of the fasciculations.⁵⁴ Depending on the etiology of pain, a variety of management strategies may be utilized. Mild pain or pain associated with joint discomfort is usually addressed with analgesics, such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs). For more severe refractory pain, narcotics such as codeine, hydrocodone, or methadone may be prescribed. In the terminal stages of ALS, morphine may be administered to provide analgesia, sedation, and relief from respiratory distress.^54,111

Management of Anxiety and Depression

Anxiety and depression can greatly affect a patient's and his or her family's quality of life, as well as the ability to cope with and adapt to the progressive changes and losses of the disease. Thus, pharmacotherapy and psychological counseling are important management strategies for addressing the anxiety and depression that can develop. Individuals with depression may be prescribed an SSRI, such as fluoxetine (Prozac) or sertraline (Zoloft). It is important to note that antidepressant effects may not occur for several weeks after initiation of the medications, and side effects may include agitation and insomnia. If the patient presents with depression and insomnia or agitation, a tricyclic antidepressant, such as amitriptyline (Elavil) or imipramine (Tofranil), is preferred.^54,93

Benzodiazepines, such as chlordiazepoxide (Librium), clorazepate, diazepam, and flurazepam (Dalmane), may be prescribed for anxiety or for patients with depression and insomnia. For patients whose respiratory status is affected, a non-benzodiazepine anxiolytic, such as buspirone (BuSpar), is preferred.^54,93,111

As previously described, the course of ALS cannot be altered and eventually the individual will become dependent in essentially all aspects of mobility and self-care. However, appropriate rehabilitation programs should be designed and implemented to allow the individual to maintain his or her independence and function for as long as possible, within the context of his or her goals and resources, throughout the disease and across health care settings. Because of the progressive nature of ALS, it is imperative that the physical therapist not only addresses an individual's current problems, but also plans ahead for future problems.^112,113

A large body of evidence to help guide physical therapy decision making is currently unavailable. As identified earlier, ALS has a progressive and deteriorating disease trajectory, with inevitable progression to disability. However, there is great variability among individuals across the disease trajectory. Staging ALS into early, middle (early-middle and late-middle), and late stages based on impairments, activity limitations, and participation restrictions may assist the therapist in designing appropriate and realistic interventions throughout the disease process, as well as anticipate the evolving needs of individual patients¹¹³ (Fig. 17.10).

In the early stage of the disease, ALS will manifest as a variety of signs and symptoms recognized by the patient as abnormal. The resultant impairments may or may not cause minor activity limitations and no participation restrictions are present. In the middle stage of ALS, the patient experiences increasing signs and symptoms, and develops an increase in the number of impairments and the severity of impairments. Minimal to moderate activity limitations will be noted and participation restrictions will develop. In the late stage of ALS, disease progression leads to numerous and increasingly more severe impairments. The patient becomes increasingly more functionally limited owing to lack of voluntary motor control and numerous participation restrictions ensue. The patient becomes dependent in essentially all aspects of mobility and self-care, and may require mechanical ventilation to address respiratory compromise, if not already ventilated.¹¹³

Within this framework, impairments, activity limitations, and participation restrictions are managed through restorative, compensatory, or preventative physical therapy interventions. These interventions should be tailored to the stage of the disease, keeping in mind individual variability throughout disease course (e.g., presence of cognitive impairments or respiratory signs and symptoms) and disease progression (e.g., slowly progressing versus fast progressing), and grounded in evidence-based research whenever possible. The patient's goals are paramount, and psychosocial factors that may influence the patient's decision making, such as acceptance of the diagnosis, and social and financial resources must be considered.¹¹³

At any one time, a variety of body regions can be affected by ALS and in various combinations. Impairments may occur as a direct result of the pathology (direct impairment), as sequelae to the pathology (indirect impairment), or may be the result of multiple underlying origins (composite impairments). Therefore, a careful and comprehensive examination is required to determine the extent of involvement and the impact of involvement on activity limitations and participation restrictions. Reexamination at regular intervals is necessary to determine the extent and rate of progression of the disease. However, at times it may be difficult to differentiate between the progressive course of the disease and the lack of impact of the interventions. In considering the tests and measures to include in a reexamination, the physical therapist needs to weigh the benefits against the psychological impact of repeating tests and measures when the patient is progressively deteriorating. This is especially true in the late-middle and late stage of the disease. It is important for the physical therapist to reexamine, monitor, and evaluate changes, because some medical decision making may be based on the physical therapist's findings, for example, the patient's percent predicted VC and the timing of PEG placement.

The patient's goals and individual psychosocial factors, rate of disease progression, extent and area of involvement, stage of the disease, and respiratory and bulbar involvement that may affect the patient's ability to participate all need to be taken into account when structuring the initial examination. The types of data generated from the patient history and interview are presented in Chapter 1, Clinical Decision Making. When collecting these data, determining what is important, relevant, and valued by the individual patient is key. By understanding what is most meaningful to a patient, the physical therapist can narrow the gap between a patient's expectations and hopes and actual experiences through realistic and appropriate interventions. For example, a young mother with ALS may inform the physical therapist her priority is caring for her children rather than maintaining employment. Thus, the initial examination would be structured around abilities and activities related to home, rather than work.

Many of the tests and measures described in this text are generally appropriate components of a comprehensive examination for an individual with ALS. However, selection is always based on specific patient need. The tests and measures frequently applicable to patients with ALS include examination of sensory function, muscle performance, motor function, coordination and balance, gait, functional status, the environment, respiratory function, and cognitive function (see Chapters 3, 5, 6, 7, 8, 9, 12, and 27). The following section presents areas that typically warrant emphasis during the examination.

Cognition

No ALS-specific cognitive test or measure exists. If dementia or cognitive impairments are suspected, executive function, language comprehension, memory, and abstract reasoning should be examined. The Mini-Mental State Examination¹¹⁴ has been used in clinical studies, although it may not be sensitive to frontotemporal function impairments. Referral for a neuropsychological evaluation may also be indicated to identify specific cognitive impairments.

Psychosocial Function

As depression and anxiety are common in individuals with ALS, screening is important and referral to a psychologist or psychiatrist for further evaluation may be indicated. The Beck's Depression Inventory,¹¹⁵ the Center of Epidemiologic Study Depression Scale,¹¹⁶ the Hospital Anxiety and Depression Scale (HADS),¹¹⁷ and the State-Trait Anxiety Inventory¹¹⁸ have been used in clinical studies.

Pain

Pain is common in individuals with ALS and should be examined subjectively and objectively, using a Visual Analogue Scale (VAS) for example. Pain is not necessarily a direct impairment of ALS, but rather an indirect (decreased ROM, adhesive capsulitis) or a composite impairment (joint malalignment secondary to spasticity and faulty posture). Further examination of underlying causes of pain is often required.

Joint Integrity, Range of Motion, and Muscle Length

Functional ROM, active, active-assisted, and passive range ROM, muscle length, and soft tissue flexibility and extensibility should be examined using standard methods.

Muscle Performance

Specific deficits of muscle strength, power and endurance, and muscle performance during functional activities should be determined. Specific deficits can be measured with manual muscle testing (MMT), isokinetic muscle strength testing, or handheld dynamometry. In clinical trials, muscle strength has been examined as maximum voluntary isometric contraction (MVIC) using a strain gauge tensiometer system.¹¹⁹ This method eliminates muscle length and velocity as factors in testing and produces reliable, valid, interval data.^{119,120,121,122} MVIC is considered the most direct technique for investigating motor unit loss, and has been used extensively for examining muscle strength in individuals with ALS for the past 10 years. Its range and sensitivity have been validated by several natural history studies.^5,17,123 However, MVIC testing requires specialized equipment and training in its use.

Test reliability of MMT and MVIC scores among uniformly trained physical therapists at several institutions has been examined. Reproducibility between MMT and MVIC was found to be equivalent. Sensitivity to detect progressive muscle strength changes in individuals with ALS favored MMT. However, 6 muscles were tested with MVIC and 34 muscles were tested with MMT; thus, the difference in detecting change was largely accounted for by the number of muscles sampled by MMT versus MVIC.¹²⁴

Motor Function

Impairments in dexterity, coordination of large movement patterns, as well as gross and fine motor control may be evident owing to spasticity and muscle weakness. Hand function and initiation, modification, and control of movement patterns should be examined.

Tone and Reflexes

Muscle tone may be examined using the Modified Ashworth Scale.¹²⁵ Deep tendon and pathological reflexes should be tested to distinguish between UMN and LMN involvement.

Cranial Nerve Integrity

The cranial nerves commonly affected by ALS include V, VII, IX, X, and XII. Cranial nerves should be tested to determine the extent of bulbar involvement. Screening for oral motor function, phonation, and speech production can be accomplished through the interview and observation. Referral to a speech-language pathologist is recommended.

Sensation

If the patient complains of sensory symptoms or if sensory involvement is suspected, sensory testing should be completed.

Postural Alignment, Control, and Balance

Static and dynamic postural alignment and body mechanics during self-care, functional mobility skills, functional activities, and work conditions and activities should be examined. Postural stability, reactive control, anticipatory control, and adaptive postural control should also be determined. No ALS-specific balance test or measure exists. A variety of balance status measures, originally designed for use with other patient populations, including the Tinetti Performance Oriented Mobility Assessment (POMA),¹²⁶ the Berg Balance Scale,¹²⁷ the Timed Up and Go Test (TUG),¹²⁸ and the Functional Reach Test,¹²⁹ can be used. Low total Tinetti Balance Test scores, indicating impaired balance, were found to be moderately to strongly related to LE muscle weakness and disability in individuals with ALS.^130,131 Kloos et al¹³⁰ suggest that the POMA is a reliable measure for individuals in the early or early-middle stages of ALS. A study of 31 individuals with ALS who underwent monthly TUG, Amyotrophic Lateral Sclerosis Functional Rating Scale—Revised (ALSFRS-R), forced vital capacity (FVC), MMT, and quality-of-life assessments for 6 months found that the TUG was significantly associated with the chance of falling.¹³²

Gait

No ALS-specific gait test or measure exists. Documentation of gait within a particular time period (e.g., within 15 seconds) or over a certain distance (e.g., 10 feet [3 meters]) has been measured in clinical trials. Gait stability, safety, and endurance should be examined. Energy expenditure, alignment, fit, practicality, safety, and ease of use of orthotic and assistive devices should also be examined at regular intervals.

Respiratory Function

Determination of respiratory status and function includes examination of respiratory symptoms and muscle function, breathing pattern, chest expansion, respiratory sounds, cough effectiveness, and VC or forced vital capacity (FVC) using a handheld spirometer. Supine FVC may be a better indicator of diaphragm weakness than erect FVC, and maximal inspiratory pressure (MIP) may also be useful in respiratory function monitoring because it can detect early respiratory insufficiency.⁹⁴ Sniff nasal pressure (SNP) may be effective in detecting hypercapnia, and peak cough expiratory flow (PCEF) is the most widely used measure of cough effectiveness.⁹⁴ Aerobic capacity and cardiovascular–pulmonary endurance may be tested in the early stages of ALS using standardized, modified protocols to evaluate and monitor responses to aerobic conditioning.

Integument

In general, even in the late stage of ALS skin integrity is rarely a problem. Skin inspection should be used to examine contact points between the body and assistive, adaptive, orthotic, protective, and supportive devices, mobility devices, and the sleeping surface. Such inspection is especially important when the patient's mobility becomes increasingly more dependent. If present, swelling should also be examined and monitored. Swelling of the distal limb may develop owing to lack of muscle pumping action in a weakened extremity.

Functional Status

Functional mobility skills, safety, and energy expenditure are important considerations. Basic and instrumental activities of daily living and the need for adaptive equipment should be examined. The Functional Independence Measure (FIM)¹³³ has been used to document functional status in clinical trials.

The Schwab and England Activities of Daily Living Scale¹³⁴ is an 11-point global measure of functioning that asks the rater to report activities of daily living (ADL) function from 100% (normal) to 0% (vegetative functions only), and has been used to examine function in individuals with ALS (Appendix 17.A). The ALS Ciliary Neurotrophic Factor (CNTF) Treatment Study Group found the scale to have excellent test-retest reliability, to correlate well with qualitative and quantitative changes in function, and to be sensitive to changes over time.¹³⁵

Environmental Barriers

The patient's home and work environments should be examined for current and potential barriers, access, and safety.

Fatigue

Fatigue is very common in individuals with ALS. No ALS-specific measures exist; the Fatigue Severity Scale¹³⁶ has been used in clinical trials.

Disease-Specific Measures

The ALS Functional Rating Scale (ALSFRS)¹³⁵ and the revised version, ALSFRS-R¹³⁷ (Appendix 17.B) examine the functional status of patients with ALS. The patient is asked to rate his or her function using a scale from 4 (normal function) to 0 (unable to attempt the task). The original scale, the ALSFRS, correlated positively with objective measures of UE and LE strength and was found to be valid and reliable for measuring the decline in function that results from loss of muscular strength.¹³⁵ The ALSFRS-R was expanded to include additional respiratory items, and was found to have internal consistency and construct validity, and to have retained the properties of the original scale.¹³⁷ Telephone administration of the ALSFRS-R has also been found to be reliable.¹³⁸ Other disease-specific scales include the Appel ALS Scale (AALS),¹³⁹ the ALS Severity Scale (ALSSS),¹⁴⁰ and the Norris Scale.¹⁴¹

Quality-of-Life Measures

Quality of life in individuals with ALS has been examined with generic measures, such as the SF-36,¹⁴² the Schedule for Evaluation of Individual Quality of Life— Direct Weighting (SEIQoL-DW),¹⁴³ and the Sickness Impact Profile (SIP).¹⁴⁴

The Amyotrophic Lateral Sclerosis Assessment Questionnaire (ALSAQ-40),¹⁴⁵ an ALS-specific quality of life measure, contains 40 items that represent five distinct areas of health: mobility (10 items), ADL (10 items), eating and drinking (3 items), communication (7 items), and emotional functioning (10 items). The questions refer to the patient's condition during the past 2 weeks and responses are given on a five-point Likert scale. The ALSAQ-40 measures health status in each domain using a summary score from 0 (best health status) to 100 (worst health status). The validity and reliability of this instrument have been examined and reported.^145,146 The ALSAQ-40 has been shortened to 11 items and also appears to be valid and reliable.¹⁴⁷

The role of the physical therapist in management of individuals with ALS and the extent of interventions provided vary depending on whether or not the therapist is working as a member of a team specialized in ALS care or as an independent or clinic-based therapist. Additional variables include the availability of other health care professionals in the practice setting and the reason the individual is seeking physical therapy (e.g., specific ALS-related problem versus a co-morbidity problem such as arthritis).

Restorative intervention is directed toward remediating or improving impairments and activity limitations. In the early and middle stages of ALS, restorative interventions are temporary at best because disease progression is expected and permanent loss of function and disability is likely. Restorative interventions in the late stage of ALS are for the most part directed solely toward remediation of impairments that result from other systems pathology (e.g., pressure sores, edema, pneumonia, atelectasis, adhesive capsulitis).

Compensatory intervention is directed toward modifying activities, tasks, or the environment to minimize activity limitations and participation restrictions. In the early and middle stages of ALS, tasks or activities may be adapted to achieve function. As the disease progresses, increasing environmental adaptations will be necessary to maintain and promote function.¹¹³

In the early and early-middle stages of ALS, preventative intervention is directed toward minimizing potential impairments such as loss of ROM, aerobic capacity, or strength, preventing pneumonia or atelectasis, and activity limitations. Beginning an early prevention program may alter impairments and maintain physical function temporarily, and may also improve well-being and decrease fatigue, as well as the secondary effects of immobility. In the late-middle and late stages, the pathology is more advanced and mobility becomes progressively restricted. In these stages, it may be extremely difficult or impossible to prevent impairments and activity limitations that are directly related to the nervous system pathology. Thus, the role of prevention is tertiary, in order to mitigate the effects of the pathology that lead to impairments in other systems (e.g., educating caregivers about a passive ROM exercise program to prevent adhesive capsulitis in the shoulder).¹¹³ In general, the role of the physical therapist includes the following:

• Promoting independence and maximizing function throughout the stages of the disease, through restorative and compensatory interventions that address impairments, activity limitations, and participation restrictions

• Promoting health and wellness in the early and early-middle stages of the disease through restorative and preventative interventions

• Providing alternative means of carrying out functional activities with adaptive equipment and alternate methods for performing tasks and activities through compensatory interventions as the disease progresses

• Minimizing or preventing complications through preventative interventions throughout the course of the disease

• Providing education, psychological support, and recommendations for equipment and community resources to assist in adapting to the disease progression¹¹³

Owing to the individual variability of the disease onset, disease course, and disease progression, patients with ALS will present with unique and different sets of problems; thus, interventions will vary. As described earlier, interventions are directed mainly toward addressing activity limitations and participation restrictions, because often the impairments causing the limitations and restrictions cannot be altered. However, in the early and early-middle stages of ALS, it may be possible to direct treatment toward the underlying CNS impairments, and perhaps postpone the onset of particular activity limitations. For example, a study of patients in the early stages of ALS (FVC ≥90% predicted and ALSFRS ≥30) who engaged in moderate load, moderate resistance exercises were found to have higher ALSFRS scores and SF-36 Physical Function scores compared to a matched control group who performed stretching exercises.¹⁴⁸ Patients and therapists must understand that any beneficial effects of an early prevention program will be short term and will not have an impact on the overall course of the disease. Much more research into the effectiveness of interventions for individuals with ALS is needed.

In developing a POC, in addition to the patient's goals, the therapist must also consider the rate of disease progression, the extent and area of involvement, stage of the disease, respiratory and bulbar factors that may affect participation, timing of the intervention, patient acceptance and motivation, life support choices, availability of psychosocial support, and resources.

Some patients may view the need to use adaptive equipment, such as an ambulatory assistive device or wheelchair, as a definitive marker for disease progression and impending death. This may cause the patient to be hesitant to accept the recommended aid or device as a means of maintaining some aspect of control over the disease. The physical therapist will be required to maintain a balance between being realistic about what can be achieved and providing a sense of hope, not helplessness, when discussing intervention options. An overview of ALS disease stages and general intervention strategies is presented in Table 17.3. Common impairments and activity limitations associated with ALS and their respective interventions are described below.

Cervical Muscle Weakness

Progressive cervical extensor weakness will cause the head to fall forward, resulting in overstretching of the posterior musculature and soft tissues. This may cause bouts of acute pain or develop into anterior muscle tightness or a chronic cervical syndrome. Some patients will compensate for the forward head position by increasing lordosis, as they attempt to maintain their posture during ambulation.

For mild to moderate cervical weakness, a soft foam collar may be worn during specific activities. Soft collars are comfortable and usually well tolerated. However, wear-induced compressibility requires that they be replaced frequently. For moderate to severe weakness, a semirigid or rigid collar is prescribed. These are usually made of padded rigid plastic or leather and provide very firm support. Patients may find the collars very warm; may experience discomfort at points of body contact, such as the chin, mandible, sternum, or over clavicles; may feel pressure on the trachea; and may feel confined. Several types of collars are presented in Figures 17.11 and 17.12, and the pros and cons of individual collar types are summarized in Table 17.4.

Some patients with combined cervical and upper thoracic weakness may benefit from a cervical-thoracic orthosis, or a Sternal Occipital Mandibular Immobilizer (SOMI). These devices provide greater support, but are more expensive and heavy and may be difficult to don and doff. For severe or intractable neck weakness, referral to an orthotist for a custom-made device may be necessary.

In addition to wearing collars, individuals with cervical weakness may also benefit from taking frequent rest periods; supportive seating, such as high-back chairs or recliners; tilt-in-space or reclining wheelchairs; elevating reading material; and education about good arm support for prolonged sitting, proper use of head rest when riding in a car, and ergonomic changes for work stations. It is important to note that when trunk weakness accompanies neck weakness, positioning for head support becomes more challenging.

Dysarthria and Dysphagia

In collaboration with the SLP and nutritionist, the physical therapist can play a role in managing dysarthria and dysphagia by addressing the patient's head and trunk control and position in sitting. In addition, the physical therapist can reinforce the use of strategies for eating and swallowing (e.g., chin tuck), the use of prescribed communication devices, and the need for food consistency modifications. Because patients are at risk for aspiration, education of the patient, family, and caregiver is imperative (see section below titled Respiratory Muscle Weakness).

UE Muscle Weakness

Weakness of the UEs greatly affects the patient's ability to carry out ADL. There is a large variety of adaptive equipment available that may help the patient prolong function for as long as possible (see section below titled Activities of Daily Living).

Patients with a painful shoulder due to subluxation may benefit from a sling, similar to those used with patients following stroke with decreased tone, although subluxation cannot be corrected completely. Splinting of the wrist or hand may be indicated to prevent contractures or to improve the patient's function, such as the ability to grasp.

Shoulder Pain

Individuals with ALS may develop shoulder pain and present with capsular patterns of restriction. Pain may be caused by several factors: abnormal scapulohumeral rhythm secondary to spasticity or weakness causing imbalance that may lead to impingement; overuse of strong muscles; muscle strain; faulty resting position; glenohumeral subluxation secondary to weakness; or a fall. Depending on the cause of the shoulder pain, interventions may include modalities, ROM exercises, passive stretching, joint mobilizations, and education about proper joint support and protection.

A 20% incidence of adhesive capsulitis in individuals with ALS has been found. Recommendations for managing the pain and decreased ROM included a protocol of an intra-articular analgesic and anti-inflammatory cocktail injection, followed by a course of aggressive ROM exercises. Some patients reported an acute resolution of pain, whereas others reported improvements over 2 to 3 weeks.¹⁴⁹

Respiratory Muscle Weakness

Education is extremely important. Patients and caregivers must be taught how to balance activity and rest and educated about energy conservation techniques. Patients and caregivers should also be educated about signs and symptoms of aspiration; positioning to avoid aspiration, such as upper cervical spine flexion during eating; causes and signs of respiratory infection; and strategies for managing oral secretions (use of oral suction device) or choking episodes (Heimlich maneuver). Specific breathing exercises and positioning to optimize ventilation/perfusion matching may also be incorporated, although their effectiveness in ALS has not been determined. A small sample size double-blind study randomly assigned 9 people with ALS to an inspiratory muscle training (IMT) group. Subjects completed daily IMT training sessions (10 minutes per session) three times per day. After 12 weeks of training, subjects in the IMT group demonstrated trends toward improvement in FVC, VC, MIP, and SNP, compared to a control group who completed sham training (n = 10), and gains in inspiratory muscle strength were partially reversed after an 8-week period of training cessation.¹⁵⁰

Airway clearance techniques may be necessary when conditions that cause secretion retention, such as pneumonia or atelectasis, arise. To compensate for a weakened cough, the patient and caregiver may be instructed in the use of manually assisted coughing techniques or MI-E. Again, the effectiveness of these techniques or device has not been demonstrated in ALS, but case reports have described the benefits from regular use of a mechanical insufflation device.^151,152 Studies of cough flows and pressures during cough augmentation have found that manual assistance increased flow 11% in those with bulbar ALS and 13% in those with nonbulbar ALS. MI-E increased flow by 26% in those with bulbar ALS and 28% in those with nonbulbar ALS. The greatest improvements were in patients with the weakest coughs.¹⁵³

High-frequency chest wall oscillation (HF-CWO) has garnered some interest in terms of its applicability to the ALS population. HF-CWO is an external noninvasive modality that transmits high-frequency oscillatory pressures through the chest wall, thereby mobilizing secretions from the small peripheral airways and enhancing secretion clearance and gas exchange. HF-CWO has been effectively used in patient populations in which secretion retention and hypersecretion are issues (e.g., cystic fibrosis).^154,155 A study comparing 19 people with ALS who used HF-CWO to 16 who were not treated found that after 6 months, those using the device had significantly less breathlessness. In addition, those users with an FVC between 40% and 70% predicted had significantly less mean decrease in FVC and less breathlessness and fatigue.¹⁵⁶

LE Muscle Weakness and Gait Impairments

Orthoses may be recommended to improve function by offering support to weakened muscles and the joints they surround, decrease the stress on remaining functioning or compensatory muscles, conserve energy, or minimize local or general muscle fatigue. Controlling knee impairments can often be achieved through an ankle-foot or-thosis (AFO); as such, addressing the ankle should be considered first. It is also important to consider the weight of the orthosis as individuals with ALS will have energy expenditure issues, and it may be more fatiguing for the patient to ambulate with a heavy orthosis than to ambulate without the impairment being corrected. For this reason, a knee-ankle-foot orthosis (KAFO) is not recommended.

Deciding between a commercially manufactured versus a custom-made orthosis is certainly dependent on the patient's resources, but the rate of disease progression should also be considered. For an individual with rapidly progressive ALS and who is likely to use the orthosis for a limited time, a commercially manufactured orthosis may suffice. Solid AFOs are a good choice for patients who have medial/lateral instability of the ankle with quadriceps weakness. The fixed ankle position, combined with the quadriceps weakness, may make it difficult for sit-to-stand transfers, climbing stairs, and negotiating inclines. Hinged AFOs allow dorsiflexion and may be appropriate for the patient with adequate knee extensor strength with mild ankle strength loss.

The type of ambulatory assistive device prescribed is dependent on the degree of proximal muscle strength or instability; function of the UEs; the pattern, extent, and rate of disease progression; acceptance by the patient; and financial constraints. Again, weight of the device is an important factor to consider in decision making, while also taking into account which device will ensure optimal function and safety. Wheeled walkers, which do not require the patient to lift the device, are usually recommended. In general, individuals with ALS are rarely prescribed crutches. If crutches are warranted, Loftstrand (Canadian) crutches are preferred.

Activities of Daily Living

A large variety of adaptive equipment is available to assist individuals with muscle weakness perform everyday tasks. However, the benefits and effectiveness of adaptive equipment for people with ALS have not been evaluated systematically. No one type of device is suitable for every patient or for every stage of the disease. Reimbursement for the equipment is variable and although a piece of adaptive equipment can help the patient maintain independence, limited financial resources may prevent recommending or purchasing the item. For example, in the early stages of ALS a universal cuff with a pocket for writing or feeding utensils may be beneficial. As the disease progresses and proximal shoulder weakness increases, a mobile arm support may be incorporated to allow the patient to maintain independence in eating. In the late stage of ALS when the patient is dependent on the caregiver for eating, a long straw and straw holder may be recommended to assist the caregiver with the activity. Examples of adaptive equipment that may be beneficial for performing ADL are presented in Table 17.5.

Decreased Mobility

Patients with LE weakness may have difficulty with sit-to-stand or car transfers. Simple interventions include placing a firm cushion 2 to 3 in (5 to 7.6 cm) thick under the buttocks in the chair or elevating the chair by placing the legs in prefabricated blocks (Fig. 17.13). Self-powered lifting cushions are relatively inexpensive and portable, but the individual needs adequate trunk control and balance in order to use the device safely (Fig. 17.14). Upholstered reclining chairs with powered seat lifts may also be recommended, but are more expensive. All these interventions increase the biomechanical advantage and make it easier for the patient to rise from a sitting position.

Caregivers will need to be educated regarding assisting the patient with transitional movements. Transfer boards may be used for transfers once the individual is unable to stand, either alone if the person has adequate arm strength and good sitting balance, or the caregiver can be instructed in how to assist the patient. Other useful devices to assist the patient's mobility are transfer belts and swivel cushions or seats. Transfer belts ease the burden of the transfer for the caregiver and prevent potential pulling on the patient's UEs. Swivel cushions are lightweight, cushioned seats that swivel in both directions and make getting in and out of a car easier (Fig. 17.15).

Once an individual cannot perform transfers, even with the assistance of a caregiver, a hydraulic or mechanical lift is required. Commonly recommended lifts devices include the Easy Pivot^TM (Rand-Scot Inc., Fort Collins, CO 80524), and the Hoyer Lift^® (Sunrise Medical, Longmont, CO 80503). Use of an electric hospital bed may facilitate bed mobility and transfers both for the patient and caregiver, and, depending on resources, home modifications and automobile adaptations may also be considered.

Chair glides or stairway lifts can be suggested for those individuals who live in multilevel homes, but who cannot or should not climb stairs (see Chapter 9, Examination of the Environment). These lifts are measured and custom-made for individual staircases and are very expensive. Insurance companies usually do not reimburse for stairway lifts, but some medical supply companies offer "rent-to-own" options. In addition, local ALSA or MDA chapters may have lifts that have been recycled.

At some time point as the disease progresses, the extent of muscle weakness or the energy requirements for ambulation will necessitate wheelchair use for mobility. In the early or early-middle stage of ALS a manual wheelchair, preferably lightweight, may be used for traveling long distances as an energy conservation technique. This wheelchair should be rented on a short-term basis or loaned from a local ALSA or MDA chapter or other source, because most insurance companies will reimburse for only one wheelchair purchase. As the disease progresses, a power wheelchair system tailored to the patient's current needs and potential future needs will be necessary. Numerous customized wheelchair features and options are available that can assist the individual in maintaining a maximum level of independence and comfort. A referral to a wheelchair and seating clinic may be the best option owing to the numerous, specialized, and evolving needs of the individual with ALS.

Trail et al¹⁵⁷ surveyed 42 patients with ALS and moderate disability, as documented on the AALS, about the wheelchair features they found most beneficial. Sixty-one percent of patients reported that their wheelchairs allowed them to maintain their previous activity levels. In order of priority, manual wheelchair users cited a lightweight frame, small turning radius, high reclining back and supports for the head, trunk, and extremities as most desirable; undesirable features included low, sling, nonreclining back; nonmotorized; static, nonadjustable leg rests; heaviness or large size; and nonremovable armrests. Desirable features for patients who used powered wheelchairs included independent mobility, maneuverability, overall comfort and tilt-in-space/recline features; undesirable features included low, nonreclining back, heaviness or large size, uncomfortable seat, nonadjustable leg rests, and general discomfort.¹⁵⁷

Although power scooters may be suitable for a patient with adequate UE and trunk strength in the earlier stages of ALS, the vehicle becomes limiting as the disease progresses and should not be prescribed. If the patient has already been reimbursed for a scooter, most insurance companies will not pay for a power wheelchair, because the scooter is considered a power mobility device. If a scooter is to be recommended at all, the patient should rent or borrow the device for short-term use.

Muscle Cramps and Spasticity

Muscle cramps may be alleviated with massage and a stretching program. Cold can temporarily decrease spasticity. Physical therapists can perform and instruct caregivers in slow prolonged stretches and passive ROM exercises to address spasticity. In addition, postural and positioning techniques can be incorporated to decrease spasticity and splinting may be necessary to prevent contractures. A published Cochrane review identified one randomized, controlled study that found patients with ALS who engaged in a 15-minute, twice-daily, moderate-intensity exercise had decreased spasticity, as measured by the Modified Ashworth Scale, compared to a control group who engaged in usual daily activities.¹⁵⁸

Psychosocial Issues

A diagnosis of ALS is devastating for both the patient and family-caregiver unit. Because of the progressive nature of the disease, impairments readily lead to activity limitations and participation restrictions, which may affect quality of life. The emotional responses of the person experiencing the disease, family members, and individuals caring for the patient are multifaceted and may fluctuate throughout the stages of the disease. Much is lost when living with a terminal, progressive disease: physical health and abilities, body image, work and family roles, identity, family and social networks, lifestyle, independence, control, hope, meaning, and the anticipated future.^159,160 The physical therapist must be able to recognize the patient's ability to cope and adapt, and his or her psychological reactions, level of acceptance, and willingness and ability to integrate therapeutic recommendations. It is also imperative that the physical therapist be able to differentiate between normal reactionary grief to losses or a change in physical function and the presence of clinical anxiety and depression, and refer the patient to the appropriate health care team member, when necessary.¹⁶¹

When pervasive, anxiety and depressive symptoms need to be treated aggressively with pyschopharmaco-logical medications, because left untreated these psychosocial impairments can adversely affect an individual's ability to adapt, cope, and participate in the POC. Depression may also lead to suicide. In addition, anxiety and depression may also be prevalent among family members or caregivers.¹⁶¹

Despite the high incidence of muscle weakness in individuals with ALS, the effects of exercise programs have not been extensively studied and, thus, are not well understood. Often physical therapy programs involve ROM and stretching exercises only. Despite the lack of research evidence, some discourage exercise programs because of fear of overuse weakness and believe that no exercise other than everyday activities is indicated.

Studies of individuals with other neuromuscular diseases such as poliomyelitis, Duchenne's muscular dystrophy, myotonic dystrophy, hereditary motor and sensory neuropathy, spinal muscular atrophy, and limb-girdle, Becker, and fascioscapulohumeral dystrophy have found that exercise programs are beneficial and do not produce overuse weakness.^{162,163,164,165,166,167,168,169} The research evidence^{162,163,164,165,166,167,168,169} from these patient populations suggests the following:

• Overuse weakness does not occur in muscles with an MMT grade of 3 (fair) or greater out of 5 (normal).

• Moderate resistance exercises can increase strength in muscles with an MMT grade of 3 or greater out of 5.

• Strength gains are proportional to initial muscle strength.

• Heavy eccentric exercise should be avoided.

• Exercise may produce functional benefits.

• Psychological benefits have yet to be determined.

When prescribed appropriately, exercise may be beneficial, especially in the early stages of the disease. Exercise may not improve the strength of muscles already weakened by ALS, certainly not those below grade 3. However, general active ROM and stretching of affected joints, resistive strengthening exercises of unaffected muscles with low to moderate weights, and aerobic activities, such as swimming, walking, and bicycling, at submaximal levels, may be prescribed.

When designing a strengthening exercise program for a patient with ALS, the physical therapist must take into consideration the balance between overuse fatigue and disuse atrophy. Evidence from patients with other neuromuscular diseases suggests that highly repetitive or heavy resistance exercise can cause prolonged loss of muscle strength in weakened, denervated muscle.^170,171 Some animal studies have found that neuromuscular activity has inhibitory effects on sprouting in partially denervated muscle,^172,173,174 whereas other studies have reported no effect^175,176 or that activity can promote sprouting or reinnervation.^177,178

On the other hand, a marked reduction in activity level secondary to ALS can lead to cardiovascular deconditioning and disuse weakness beyond the amount caused by the disease itself. Therefore, the type and intensity of the exercise program should be carefully monitored and adjusted by the physical therapist in order to prevent excessive fatigue, while at the same time promoting optimal use of intact muscle groups. Patients should be advised not to carry out any activities to the point of extreme fatigue, and should keep track of symptoms of overuse, such as the inability to perform daily activities following exercise due to exhaustion or pain, increased fasciculations, or increased muscle cramping. They may also be advised to exercise for several brief periods throughout the day, with sufficient rest in between.

Disuse Atrophy

Reduced physical activity, particularly if prolonged, reduces function of the neuromuscular system, in addition to the skeletal and other organ systems. With insufficient activity, disuse atrophy develops when muscle contractions are less than 20% of the total tension a muscle is capable of producing. As contractile proteins are lost, the muscle weakness progresses at a rate of 3% per day.¹⁷⁹ Strength loss through inactivity and disuse can significantly debilitate individuals with ALS, making them highly susceptible to deconditioning, and muscle and joint tightness leading to contractures and pain.

Overuse Fatigue

The potential for inducing overwork damage in individuals with ALS through excessive exercise is a common concern. Sanjak et al⁵⁹ found that individuals with ALS demonstrate abnormal physiological and metabolic responses to single bouts of exercise. Oxygen consumption during submaximal exercise was increased in individuals with ALS compared to controls, and VO_2max and work capacity were decreased. In addition, it was found that several metabolic substrates of plasma and muscle compartments did not increase to the same level as untrained control subjects, indicating that the availability of substrate for energy production is affected.⁵⁹

In individuals with ALS, the safe range for therapeutic exercise narrows, and the degree to which the range narrows is dependent on the extent of disease involvement and the rate of disease progression. A weak or denervated muscle is more susceptible to overwork damage because it is already functioning close to its maximal limits. Activities of daily living alone may cause impaired muscles to act as though in training and exercise that would improve normal muscles may actually cause overwork damage in impaired muscles. The remaining motor units will respond to training, and these motor units must work harder to handle a given amount of exercise stress.¹⁷⁹ Thus, special attention must be paid to developing an exercise program for patients with ALS, and physical therapists should prescribe exercise training at moderate to low intensities.

The literature related to exercise in individuals with ALS is limited. Two early case studies demonstrated positive effects of specific strengthening and endurance exercises.^180,181 More recently, the effects of exercise in individuals with ALS have been evaluated with larger samples. Both of these studies found significantly less decline in function scores and other outcome measures^182,183 in the exercise group. Two animal studies found that endurance exercise training at moderate intensities slowed disease progression;^184,185 a third study found that high-endurance exercise training had detrimental effects on male mice only.¹⁸⁶ The evidence related to exercise and ALS is presented in Box 17.1 Evidence Summary (human studies) and Box 17.2 Evidence Summary (animal studies).^187,188

A diagnosis of ALS is devastating for individuals and their families. They are faced with continual, multiple changes and losses, and eventual death. Assisting the individual and his or her family and caregivers to come to terms with the impact of the disease is an important role for the physical therapist, and providing psychological support and opportunities for expression of feelings, frustrations, and concerns is imperative. Collaborating with and educating the patient, family, and caregivers in an open and encouraging environment may empower patients in their efforts to cope with their disease, foster a sense of purpose and self-efficacy, and enhance the overall effectiveness of the intervention by increasing adherence with recommendations.¹¹³

Patient and family/caregiver education is integral throughout the stages of the disease. The scope of education can include, but is not limited to, the following:

• Providing accurate, factual information about the disease process and clinical manifestations, and their significance in terms of management. Give only as much information as the patient, family, and caregivers need; information should be provided in a manner appropriate to their understanding.

• Instructing patients, family members, and caregivers regarding interventions that can be carried out independently such as monitoring the effects and side effects of medications, use of assistive devices and adaptive equipment, and preventing secondary complications.

• Advising the patient about methods to promote general health. Instruction regarding energy conservation, balancing rest and activity, and relaxation techniques may be beneficial in assisting the patient to cope with the daily constraints of the disease.

• Counseling regarding care and life decisions, if the patient asks about these issues.

• Referring patients to support groups or psychological counseling.

• Providing information on health and available social and support services.¹¹³

The ALSA and the MDA are two national voluntary organizations that provide many functions and programs for individuals with ALS and their families and caregivers, including the provision of written and video educational materials, local education programs, patient and caregiver support groups, equipment loan programs, respite programs, transportation programs, advocacy programs, and ALS Awareness Programs. Patients and families can contact the ALSA and MDA for information and can explore available resources on the websites:

Amyotrophic Lateral Sclerosis Association (Operations)

27001 Agoura Road, Suite 150

Calabasas Hills, CA 91301-5104

818-880-9007

www.alsa.org

The Muscular Dystrophy Association

3300 East Sunrise Drive

Tucson, AZ 85718-3208

800-572-1717

www.mdausa.org

In addition, there are numerous international organizations whose websites provide a variety of resources, including information about ALS, information about clinical trials, evidence-based reviews, evidence-based practice guidelines, and publications about living with ALS (see Appendix 17.C for Web-based resources).

Amyotrophic lateral sclerosis, the most common and devastatingly fatal motor neuron disease among adults, causes a progressive increase in the number and severity of impairments, activity limitations, and participation restrictions. Other than a small percentage of cases, etiology for the most part is unknown, and it is hypothesized that multiple mechanisms may be responsible for the disease. Although there is no cure for ALS and its course cannot be altered, it should be considered a "treatable disease." Medical management is primarily symptomatic, and a team approach to care is considered optimal. Rehabilitation management is focused on maximizing function and promoting independence to the highest level possible, and ensuring optimal quality of life throughout the course of the disease and across health care settings.

The physical therapist plays an integral role in designing and implementing therapeutic interventions for individuals with ALS that will allow them to maintain independence and function for as long as possible. The selection of interventions, grounded in evidence-based research whenever possible, is based on the stage and progression of the disease and may be restorative, compensatory, or preventative. These interventions should take into consideration the individual's goals and psychosocial factors that may affect decision making, such as the individual's acceptance of the diagnosis and the individual's social and financial resources. Because of the progressive nature of the ALS, the physical therapist must not only address the patient's current problems, but also plan for the patient's future needs.

Acknowledgments

Special thanks to Ashley Chapman, Tasha Kravchenko, and Gabi Watson for their assistance with the editorial and administrative aspects of the manuscript, and sincerest thanks to Peggy Ingels-Allred for her thoughtful and critical review of earlier editions of this chapter.

Questions for Review

1. Describe the clinical manifestations of ALS. Differentiate among impairments associated with upper and lower motor neuron pathology, bulbar pathology, and respiratory system pathology. What cognitive, rare, indirect, and composite impairments might you see in an individual with ALS?

2. What examination procedures are used to help support the diagnosis of ALS?

3. Identify and define the major classifications of ALS included in the El Escorial criteria developed by the World Federation of Neurology Research Group on Motor Neuron Diseases.

4. Describe the disease course of ALS. What factors have shown a relationship to prognosis?

5. Considering the variety of impairments associated with ALS, what factors does a physical therapist need to consider when deciding on which tests and measures should be included in a comprehensive examination?

6. Differentiate among restorative, compensatory, and preventive interventions.

7. When designing an exercise program for a patient with ALS, what factors need to be taken into consideration?

8. What information should be considered and included when developing a plan for patient and family education following the diagnosis of ALS?

The patient is a right-handed 36-year old male recently diagnosed with amyotrophic lateral sclerosis (ALS). Seven months ago, the patient experienced cramping in his left calf and a few months later noted that his left foot slapped and that he "caught his toes" and tripped while playing basketball or walking on the golf course. He also noticed painless twitching of the muscles in his right hand, forearm, and upper arm and reported difficulty fastening the snaps on his youngest son's pajamas.

PAST MEDICAL HISTORY

No significant past medical history.

SOCIAL HISTORY

The patient has been married for 10 years. He has a 3-year-old and a 9-month-old son, and his wife is pregnant with their third child. He lives in a two-story house with 4 steps up to the front door (no railing), 12 stairs between levels (bilateral railing), and 10 stairs to the basement with a railing on the right.

He stopped playing basketball and baseball because he is embarrassed about the frequent tripping, but continues to play golf on the weekend. He uses a golf cart because he is unable to keep up with his friends on the golf course. He would like to be more active.

OCCUPATION

He is a manager at a computer graphics business and reports his voice becomes hoarse on occasion after long presentations. He reports significant fatigue if he works on the computer for long periods of time or if he has to stand for long periods for presentations. He attributes this to "getting older."

DIAGNOSTIC TESTS

Electromyographic studies showed (1) low compound motor action potentials in all extremities; (2) normal sensory nerve conduction; (3) fibrillations and fasciculations in all extremities; and (4) widespread neurogenic changes in motor unit action potentials, abnormal recruitment patterns in the distal leg musculature, and mild to moderate changes in the upper extremities.

PHYSICAL EXAMINATION FINDINGS

• Observation: Marked wasting of the interossei regions bilaterally.

• Speech: No abnormalities noted.

• ROM: Within normal limits (WNL) for all joints, except the thumbs and the L ankle. Patient was only able to oppose thumbs to the third digits. He lacks 5° of L dorsiflexion.

• Strength: Bilateral LE strength graded as 5/5, except for the hip flexor group (R = 4/5; L = 4+/5) and the L ankle dorsiflexors (3–/5). Shoulder muscle strength graded as 4+/5 (R) and 4/5 (L); elbow muscle strength graded as 4/4 (R) and 4+/5 (L).

• Hand strength: R = 12 lb; L = 24 lb (handheld dynamometer).

• Pinch strength: R-tripod = 2 lb; lateral = 3 lb; L-tripod = 5 lb; lateral = 3 lb (see below for normative data on grip and pinch strength). Note: Tripod pinch is a component of manual dexterity that involves opposition of the thumb and the first two fingers as a "tripod." Pinch strength measures are obtained using a pinch gauge.

• Manual coordination: Purdue Pegboard Testing, R—6 peg holes in 30 seconds; L—3 peg holes in 30 seconds.

• Tone: 1 for both UEs and 1+ for both LEs (Modified Ashworth spasticity scores).

• Reflexes: A clonic jaw reflex is evident; hyperreflexia in both UEs; hyporeflexia in both LEs; positive Babinski reflex bilaterally.

• Gait: Independent of assistive devices; positive for L foot drop and hip hiking; 15-ft walk test = 3.6 seconds.

• Balance (standing): Unilateral stance/eyes open, R = 25 seconds; L = 6 seconds.

• Respiratory: Forced vital capacity (FVC) and maximum inspiratory pressure (MIP) are within normal limits.

• Functional status: The patient rated himself at 90% on the Schwab and England Rating Scale (see Appendix 17.A). ALSFRS-R scores (see Appendix 17.B):

1. What El Escorial diagnostic criteria would you anticipate documented in the patient's medical record?

2. Identify the patient's problems in terms of direct, indirect, and composite impairments.

3. What impact do the impairments have on the patient's ability to function (i.e., activity limitations)?

4. What additional tests and measurements should be conducted; what consultations should be recommended?

5. At present, what are the key areas of patient education that should be addressed initially?

6. Identify the general elements of a physical therapy plan of care for the patient.

• 1. Speech

  • 4 Normal speech processes.

  • 3 Detectable speech disturbance.

  • 2 Intelligible with repeating.

  • 1 Speech combined with nonvocal communication.

  • 0 Loss of useful speech.

• 2. Salivation

  • 4 Normal.

  • 3 Slight but definite excess of saliva in mouth; may have nighttime drooling.

  • 2 Moderately excessive saliva; may have minimal drooling.

  • 1 Marked excess of saliva with some drooling.

  • 0 Marked drooling; requires constant tissue or handkerchief.

• 3. Swallowing

  • 4 Normal eating habits.

  • 3 Early eating problems—occasional choking.

  • 2 Dietary consistency changes.

  • 1 Needs supplemental tube feeding.

  • 0 NPO (exclusively parenteral or enteral feeding).

• 4. Handwriting

  • 4 Normal.

  • 3 Slow or sloppy; all words are legible.

  • 2 Not all words are legible.

  • 1 Able to grip pen but unable to write.

  • 0 Unable to grip pen.

• 5a. Cutting Food and Handling Utensils (Patients without Gastrostomy)

  • 4 Normal.

  • 3 Somewhat slow and clumsy, but no help needed.

  • 2 Can cut most foods, although clumsy and slow; some help needed.

  • 1 Food must be cut by someone, but can still feed slowly.

  • 0 Needs to be fed.

    OR

• 5b. Cutting Food and Handling Utensils (Alternate Scale for Patients with Gastrostomy)

  • 4 Normal.

  • 3 Clumsy but able to perform all manipulations independently.

  • 2 Some help needed with closures and fasteners.

  • 1 Provides minimal assistance to caregiver.

  • 0 Unable to perform any aspect of task.

• 6. Dressing and Hygiene

  • 4 Normal function.

  • 3 Independent and complete self-care with effort or decreased efficiency.

  • 2 Intermittent assistance or substitute methods.

  • 1 Needs attendant for self.

  • 0 Total dependence.

• 7. Turning in Bed and Adjusting Bed Clothes

  • 4 Normal.

  • 3 Somewhat slow and clumsy, but no help needed.

  • 2 Can turn alone or adjust sheets, but with great difficulty.

  • 1 Can initiate, but not turn or adjust sheets alone.

  • 0 Helpless.

• 8. Walking

  • 4 Normal.

  • 3 Early ambulation difficulties.

  • 2 Walks with assistance.

  • 1 Nonambulatory functional movement only.

  • 0 No purposeful leg movement.

• 9. Climbing Stairs

  • 4 Normal.

  • 3 Slow.

  • 2 Mild unsteadiness or fatigue.

  • 1 Needs assistance.

  • 0 Cannot do.

• 10. Dyspnea

  • 4 None.

  • 3 Occurs when walking.

  • 2 Occurs with one or more of the following: eating, bathing, dressing (ADL).

  • 1 Occurs at rest, difficulty breathing when either sitting or lying.

  • 0 Significant difficulty, considering using mechanical respiratory support.

• 11. Orthopnea

  • 4 None.

  • 3 Some difficulty sleeping at night due to shortness of breath, does not routinely use more than two pillows.

  • 2 Needs extra pillows in order to sleep (more than two).

  • 1 Can only sleep sitting up.

  • 0 Unable to sleep.

  ^a Original ALSFRS consists of items 1 through 9 and the original item 10 below:

• 10. Breathing

  • 4 Normal.

  • 3 Shortness of breath with minimal exertion (e.g., walking, talking).

  • 2 Shortness of breath at rest.

  • 1 Intermittent (e.g., nocturnal) ventilatory assistance.

  • 0 Ventilator dependent.

• 12. Respiratory Insufficiency

  • 4 None.

  • 3 Intermittent use of BiPAP.

  • 2 Continuous use of BiPAP during the night.

  • 1 Continuous use of BiPAP during the night and day.

  • 0 Invasive mechanical ventilation by intubation or tracheostomy.

BiPAP = bidirectional positive airway pressure; NPO = non per os, nothing by mouth.