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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.

ORPHA:280671

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
  • ICD-11: 8C70.6
  • OMIM: 602541
  • UMLS: C1865233
  • MeSH: C566527
  • GARD: 10317
  • MedDRA: -

  A summary on this disease is available in Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

Detailed information

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.