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Muscular Dystrophy and Spinal Muscular Atrophy W0378-Ch15.qxd 11/15/05 7:10 PM Page 421 Chapter 15 MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY WAYNE A. STUBERG PT, PhD, PCS ROLE OF THE PHYSICAL THERAPIST The objective of this chapter is to present an overview of the childhood forms of MD and SMA, including the PHYSICAL THERAPY EXAMINATION AND EVALUATION role of the physical therapist as a member of the manage- MUSCULAR DYSTROPHY ment team. The clinical presentation of the diseases is Dystrophin-Associated Proteins and Muscular reviewed, and examination procedures are presented to Dystrophy assist the clinician in identifying impairments, functional Duchenne Muscular Dystrophy limitations, and disabilities associated with MD and Becker Muscular Dystrophy SMA. Guidelines for physical therapy management are Congenital Muscular Dystrophy also outlined based on my clinical experience and review Childhood-Onset Facioscapulohumeral Muscular of related literature. Dystrophy Congenital Myotonic Muscular Dystrophy Emery-Dreifuss Muscular Dystrophy ROLE OF THE PHYSICAL THERAPIST SPINAL MUSCULAR ATROPHY Diagnosis and Pathophysiology As a member of the management team in either the Acute Childhood Spinal Muscular Atrophy (Type I) educational or medical setting, the physical therapist Chronic Childhood Spinal Muscular Atrophy assists in the identification and amelioration of impair- (Type II) ments, activity limitations, and participation restrictions Juvenile-Onset Spinal Muscular Atrophy (Type III) for persons with MD or SMA. The team often includes SUMMARY physician(s) (neurologist, orthopedist, or physiatrist), physical therapist, occupational therapist, speech thera- CASE STUDIES pist, educator, social worker, genetic counselor, psycho- APPENDIX : Clinical Protocol for Functional Testing logist, and orthotist. Because therapists typically maintain in Duchenne Muscular Dystrophy a higher frequency of contact with families, referral to and ongoing communication with other team members be- euromuscular diseases include disorders of the moto- come an important part of maintaining continuity of care. Nneuron (anterior horn cells and peripheral nerves), The team approach should be family centered with a neuromuscular junction, and muscle. Muscular dystrophy focus on collaborative goal setting among individuals with (MD) and spinal muscular atrophy (SMA) are two pre- the disorder, family members, and professionals to ensure valent, progressive neuromuscular diseases that require optimal care. By providing care using a family-centered physical therapy. Progressive weakness, muscle atrophy, philosophy, the pivotal role of the family is recognized contracture, deformity, and progressive disability charac- and respected in the lives of persons with special health terize both diseases. No cure is available for either disease. care needs. “Incurable,” however, is not synonymous with “untreat- Prevention is also an important role of the physical able,” and the physical therapist can be influential in pre- therapist. Stress on the child/individual and family can be vention of complications, preservation of function, and reduced and coping facilitated through accurate prog- issues concerning quality of life. nostic information and recognizing signs that portend 421 W0378-Ch15.qxd 11/15/05 7:10 PM Page 422 422 SECTION II MANAGEMENT OF MUSCULOSKELETAL IMPAIRMENT changing status and a resultant increase in disability. from one functional status to another or during times of Examples of status change include the period before the increased family need. loss of walking, before the need for architectural modifi- cations to accommodate adaptive equipment for mobility, during transition from the educational to the vocational/ MUSCULAR DYSTROPHY avocational environment, or during the terminal stages of the disease when the decision to use mechanical ventila- The etiology of MD is genetic inheritance. The pathophy- tion will be a major issue for the family. siology underlying the disease is progressive loss of muscle Providing information to family members, persons with contractility caused by the destruction of myofibrils. The MD or SMA, and other members of the team regarding specific cellular mechanism behind the destruction in physical limitations and expected participation restric- Duchenne muscular dystrophy (DMD) and Becker mus- tions is an important role for the physical therapist. Many cular dystrophy (BMD) has been partially identified and resource materials are available online through the na- is discussed later in the chapter. The rate of progression of tional Muscular Dystrophy Association (MDA) or through myofibril destruction is variable among the various forms state chapter MDA offices. of MD, giving evidence for the possibility of more than one cellular mechanism in the destructive process. PHYSICAL THERAPY The diagnosis of MD is confirmed by clinical exami- nation and laboratory procedures, including electromyo- EXAMINATION AND graphy, muscle biopsy, DNA analysis, and selected enzyme EVALUATION levels assayed from blood samples (Jones & North, 1997; Siegel, 1986). The criteria for classification of the various Although the progression of MD and SMA is relatively well forms of MD include the mode of inheritance, age at known, the clinician must carefully observe the child for onset, rate of progression, localization of involvement, changes that require intervention modifications. As stated muscle morphologic changes, and presence of a genetic by Thomas McCrae (1870–1935), “More is missed by not marker if available. The MDA recognizes nine primary looking than by not knowing” (Siegel, 1986). Ongoing classifications of MD (Muscular Dystrophy Association, dialogue with families is invaluable in identifying family- 2001). Table 15-1 lists the six most prevalent types that centered goals and the need for program modification. exhibit initial clinical signs in infancy, childhood, or The physical therapy examination is the initial step in adolescence. Emery-Dreifuss MD (humeroperoneal) is management of the child with MD or SMA and should very rare and is discussed only briefly. Limb-girdle MD include those components identified in the Guide to may exhibit signs in the teenage years, but the onset of Physical Therapist Practice (American Physical Therapy symptoms is more typically in early adulthood, and there- Association [APTA], 2001). Specifically, the following fore, along with the adult-onset forms of MD, it is not must be carefully examined: discussed in this chapter. The reader should refer to texts 1. History with family concerns on neuromuscular diseases by Brooke (1986), Siegel (1986), 2. Aerobic capacity and endurance and Harper (1989) for further information on clinical 3. Assistive and adaptive devices presentation and general management of MD. 4. Community and work (job/school/play) integration The primary impairment in MD is insidious weakness 5. Environmental, home, and job/school/play secondary to progressive loss of myofibrils. In the case of barriers the congenital forms of MD the weakness is pronounced 6. Gait, locomotion, and balance at birth and easily recognizable. In DMD, the weakness 7. Integumentary status (when using orthoses, adap- becomes evident by age 3 to 5 years. In congenital and tive equipment, or wheelchair) congenital myotonic MD, contractures present at birth 8. Muscle performance also cause primary impairment. The incidence of mental 9. Neuromotor development retardation is highest in congenital myotonic MD, but it 10. Orthotic, protective, and supportive devices is less frequently reported in DMD or the other child- 11. Posture hood forms. 12. Range of motion Secondary impairments in all forms of MD include the 13. Self-care and home management development of contractures and postural malalignment. 14. Ventilation/respiration Postural malalignment is seen in antigravity positions of Systematic documentation of disease progression is sitting and standing and often includes development of essential in timing of interventions during transitions scoliosis. Other secondary impairments include decreased W0378-Ch15.qxd 11/15/05 7:10 PM Page 423 MUSCULAR DYSTROPHY AND SPINAL MUSCULAR ATROPHY CHAPTER 15 423 TABLE 15-1 Classification of Muscular Dystrophy TYPE ONSET INHERITANCE COURSE Duchenne 1–4 years X-linked Rapidly progressive; loss of walking by 9 to 10 years; death in late teens Becker 5–10 years X-linked Slowly progressive; maintain walking past early teens; life span into third decade Congenital Birth Recessive Typically slow but variable; shortened life span Congenital myotonic Birth Dominant Typically slow with significant intellectual impairment Childhood-onset facioscapulohumeral First decade Dominant/recessive Slowly progressive loss of walking in later life; variable life expectancy Emery-Dreifus Childhood to Slowly progressive with cardiac abnormality and normal life early teens X-linked span respiratory capacity, easy fatigability, and occasionally membrane, and intracellular proteins, which are repre- obesity. Although significant intellectual impairment is sented in Figure 15-1. not usual, IQ commonly averages 85, and consequently, Dystrophin acts as an anchor in the intracellular lattice 30% of boys with DMD have an IQ below 70 (Anderson to enhance tensile strength. The other proteins are thought et al., 2002). This finding has been related to a loss of to act as a physical pathway for transmembrane signaling. dystrophin in the brain, and more specifically to a disrup- Absence of any transmembrane protein, however, would tion in GABA receptors
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