Facioscapulohumeral muscular dystrophy (FSHD) typically presents before age 20 with weakness of the facial muscles and the stabilizers of the scapula or the dorsiflexion of the foot.
FSHD is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the mutant allele.
The diagnosis of FSHD is suspected in the presence of bilateral facial weakness and weakness of either the scapular stabilizers and foot dorsiflexion and the absence of:
The diagnosis of FSHD is suspected in the presence of bilateral facial weakness and weakness of either the scapular stabilizers and foot dorsiflexion and the absence of:
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