CAP myopati


Engelsk navn: Cap myopathy
Engelske synonym: Cap disease


Definisjon

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.

Fra Orphanet

ORPHA: 171881
Klassifiseringsnivå: Disorder
ICD-10: G71.2

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