Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited disease with a distinctive clinical presentation. It presents initially with facial and scapular weakness, and progresses in a descending fashion to involve the lower extremities. Disease severity is extremely variable, with about 20%, of individuals becoming wheelchair dependent. Although no curative treatment for FSHD exists, recent discoveries of the underlying pathophysiology open the door for the development of targeted treatments.
| Original language | English (US) |
|---|---|
| Title of host publication | Neuromuscular Disorders |
| Publisher | Wiley-Blackwell |
| Pages | 74-79 |
| Number of pages | 6 |
| ISBN (Print) | 0470654562, 9780470654569 |
| DOIs | |
| State | Published - Sep 6 2011 |
| Externally published | Yes |
Keywords
- Conditions mimicking FSHD
- Creatine kinase (CK) levels
- FSHD extramuscular manifestations
- FSHD, broad clinical spectrum of age
- Facial and shoulder weakness
- Facial weakness
- Facioscapulohumeral dystrophy (FSHD) - autosomal neuromuscular disorder
- Foot drop
- Mild retinovascular abnormalities
- Weak abdominal muscles
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Clinical Neurology
- Genetics(clinical)