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Congenital muscular dystrophy due to LMNA mutation

Disease definition

A rare congenital muscular dystrophy characterized by prominent axial hypotonia, predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and progressive respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.

ORPHA:157973

Classification level: Disorder
  • Synonym(s):
    • L-CMD
    • LMNA-related congenital muscular dystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.2
  • OMIM: 613205
  • UMLS: C2750785
  • MeSH: -
  • GARD: 12585
  • MedDRA: -
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