Congenital muscular dystrophy with hyperlaxity

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.

Also known as: CMDH

5 clinical trials for this condition and its sub-types, 0 tagged with Congenital muscular dystrophy with hyperlaxity itself.