X-linked myopathy with postural muscle atrophy
Synonyms: XMPMA
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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X-linked myopathy with postural muscle atrophy?
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Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
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