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Congenital muscular dystrophy due to LMNA mutation

^ http://www.orpha.net/ORDO/Orphanet_157973


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

Synonyms: LMNA-related congenital muscular dystrophy, L-CMD

Term info

database cross reference
  • OMIM:613205 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:G71.2 (NTBT (narrower term maps to a broader term))
  • ICD-10:G71.2 (Attributed)
  • UMLS:C2750785 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

ICD-10:G71.2, UMLS:C2750785, OMIM:613205

notation

ORPHA:157973