Orphanet: Megaconial congenital muscular dystrophy

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Megaconial congenital muscular dystrophy

Disease definition

A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.


Classification level: Disorder
  • Synonym(s):
    • Congenital megaconial myopathy
    • Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
    • Congenital muscular dystrophy with mitochondrial structural abnormalities
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.2
  • OMIM: 602541
  • UMLS: C1865233
  • MeSH: -
  • GARD: 10317
  • MedDRA: -

Detailed information


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