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Congenital muscular dystrophy

Disease definition

Congenital muscular dystrophy (CMD) is a heterogeneous group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle wasting, weakness or delayed motor milestones. The group includes myopathies with abnormalities at different cellular levels: the extracellular matrix (MDC1A, UCMD; see these terms), the dystrophin-associated glycoprotein complex (alphadystroglycanopathies, integrinopathies see these terms), the endoplasmic reticulum (rigid spine syndrome [RSMD1], and the nuclear envelope (LMNA-related CMD; [L-CMD] and Nesprin-1-related CMD; see these terms).

ORPHA:97242

  • Synonym(s):
    • CMD
    • MDC
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.2
  • OMIM: -
  • UMLS: C0026850  C0699743
  • MeSH: -
  • GARD: 9138
  • MedDRA: -

Additional information

Further information on this disease

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