X-linked myopathy with postural muscle atrophy

MONDO:0010401

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.

Also known as: X-linked myopathy with postural muscle atrophy, XMPMA, myopathy, X-linked, with postural muscle atrophy, X-linked recessive, Ehlers-Danlos syndrome, classic-like, 1, Emery-Dreifuss muscular dystrophy 6, X-linked, myopathy, X-linked, with postural muscle atrophy

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