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Congenital muscular dystrophy type 1A

Disease definition

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

ORPHA:258

  • Synonym(s):
    • CMD1A
    • Congenital muscular dystrophy due to laminin alpha2 deficiency
    • MDC1A
    • Merosin-negative congenital muscular dystrophy
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: G71.2
  • OMIM: 607855
  • UMLS: C1263858
  • MeSH: -
  • GARD: 3843
  • MedDRA: -

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