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Cap myopathy

ORPHA171881
Synonym(s) Cap disease
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset All ages
ICD-10
  • G71.2
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal, distal, facial and respiratory muscles associated with craniofacial and thoracic deformities. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.


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Detailed information

Guidance for genetic testing
  • EN (2012,pdf)
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