Facioscapulohumeral muscular dystrophy (FSHD) typically presents before age 20 with weakness of the facial muscles, 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 or foot dorsiflexors, and the absence of:
1. Ptosis
2. Extraocular muscle weakness
3. Sensory loss
4. Skin rash
5. Neurogenic changes on muscle biopsy
6. Myotonia, fasciculations, or neurogenic potentials on EMG
TREATMENT:
Treatment for FSHD consists of interventions to manage symptoms and improve quality of life.
Physical Medicine and Rehabilitation
Surgical Management
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