| Disease
characteristics: Fascioscapulohumeral
muscular dystrophy (FSHD) typically presents before age 20 years with weakness of the
facial muscles and the stabilizers of the scapula or the dorsiflexors of the foot.
Genetic counseling:
FSHD is inherited in an autosomal
dominant manner. Offspring of an affected individual have a 50% chance of inheriting the
mutant allele.
Clinical
Diagnosis:
The diagnosis of FSHD is suspected in
the presence of bilateral facial weakness and weakness of either the scapular
stabilizers and/or foot dorsiflexors and the absence of: a) ptosis, b) extraocular muscle
weakness, c) sensory loss, d) skin rash, e) neurogenic changes on muscle biopsy, and f)
myotonia, fasciculations, or neurogenic potentials on EMG.
Treatment:
- Physical Medicine and Rehabilitation
- Surgical Management
|