An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.
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congenital fibrosis of extraocular muscles
MONDO:0007614
Bethlem myopathy
MONDO:0008029
facioscapulohumeral muscular dystrophy 1
MONDO:0008030
facioscapulohumeral muscular dystrophy 2
MONDO:0008031
oculopharyngeal muscular dystrophy
MONDO:0008116
X-linked myopathy with excessive autophagy
MONDO:0010684