For many neuromuscular disorders, the chromosomal location is known, the causal gene has been identified, and direct application of this knowledge may be made in a clinical setting. The benefits resulting from molecular-based methods include improved diagnostic accuracy and genetic counseling for patients and other at-risk family members. This chapter discusses in detail four of the most frequently encountered neuromuscular disorders. These diseases include spinal muscular atrophy, Charcot-Marie-Tooth neuropathy, Duchenne/Becker type muscular dystrophy, and myotonic dystrophy.
|Original language||English (US)|
|Number of pages||33|
|Journal||Physical Medicine and Rehabilitation Clinics of North America|
|State||Published - 1998|
ASJC Scopus subject areas
- Physical Therapy, Sports Therapy and Rehabilitation