Congenital muscular dystrophy with hyperlaxity

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Congenital muscular dystrophy with hyperlaxity

Synonyms: CMDH

Congenital muscular dystrophy with hyperlaxity is a rare genetic neuromuscular disease characterized by congenital hypotonia generalized slowly progressive muscular weakness and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and in rare cases respiratory failure mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time.

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 Data version March 2024

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