Abstract
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) |
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Pages (from-to) | 49-81 |
Number of pages | 33 |
Journal | Physical Medicine and Rehabilitation Clinics of North America |
Volume | 9 |
Issue number | 1 |
DOIs | |
State | Published - 1998 |
Externally published | Yes |
ASJC Scopus subject areas
- Physical Therapy, Sports Therapy and Rehabilitation
- Rehabilitation