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cap myopathy

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
Mondo Term and Equivalent IDs
MONDO:0015753:  cap myopathy
GARD:0011915: 
MESH:C579969: 
Orphanet:171881: 
SCTID:703532002: 
UMLS:C3710589: