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