X-linked myopathy with postural muscle atrophy
X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.
MONDO:0010680
X-linked Emery-Dreifuss muscular dystrophy
is_a
MONDO:0800462
FHL1-related myopathy
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X-linked myopathy with postural muscle atrophy
exact
XMPMA
exact
myopathy, X-linked, with postural muscle atrophy
related
myopathy, X-linked, with postural muscle atrophy, X-linked recessive
exact