Pediatric physical therapists can make important contributions to the care of children with inherited neuromuscular disorders. These conditions may include Duchenne muscular dystrophy (DMD), a muscle disorder; spinal muscular atrophy, an anterior horn cell disorder; Charcot-Marie-Tooth disease, a neuropathic disorder; and many other congenital and/or pediatric forms of muscular dystrophies and neuropathies. Common elements are their (1) genetic/inherited etiology, (2) progressive nature, (3) primary impairment of muscle weakness, (4) resulting activity limitations and participation restrictions, and (5) secondary complications leading to increased morbidity and mortality. However, they differ in their (1) associated impairments of body structures and functions, (2) secondary complications, (3) natural history, (4) prognosis, and (5) medical management.
In addressing the needs of these children and their families, the role of the physical therapist varies by setting. As a team member in a multidisciplinary specialty clinic, the therapist may perform evaluations and make recommendations over extended periods of time. The school-based physical therapist may serve as consultant, educator, and coordinator, facilitating the provision of services to meet the student's educational needs and prepare for the transition to adulthood. The outpatient therapist may intervene for brief episodes of care after surgical interventions or to assist in the acquisition of and training regarding orthoses, wheelchairs, and other adaptive equipment. Home care may involve procedural interventions, patient/client-related instruction with the family, and recommendations for adaptive equipment and home modifications.
This case study of a boy with DMD will describe the process for developing appropriate plans for evidence-based intervention and management that reflect parent and child preferences and are based on available evidence or, in the absence of evidence, expert consensus. These decisions should also be consistent with the American Physical Therapy Association (APTA)'s Guide to Physical Therapist Practice (“Guide”) (2001).
To meet the varying needs of these children, practice patterns for examination, evaluation, and intervention can be found in the Guide (APTA, 2001) under all four systems. Some common examples include 4C: Impaired Muscle Performance; 5G: Impaired Motor Function and Sensory Integrity Associated with Acute or Chronic Polyneuropathies; 6B: Impaired Aerobic Capacity/ Endurance Associated with Deconditioning; and 6E: Impaired Ventilation and Respiration/Gas Exchange Associated with Ventilatory Pump Dysfunction or Failure.
DMD is the most common inherited muscle disease of childhood. It is an X-linked inherited disorder with an incidence of 1:3,500 to 1:6,000 male births (Emery, 1991). A recent survey of four states in the United States documented a prevalence of 1.3 to 1.8 per 10,000 males aged 5 to 24 years (Centers for Disease Control and Prevention, 2009). A third of the cases arise from new mutations and therefore may not have a family history of the disorder.
The condition was first described in the late 1800s (Duchenne, 1868; Gowers, 1879), the gene lesion was discovered in 1985 (Kunkel, Monaco, Middlesworth, Ochs, & Latt, 1985), ...