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Distal anoctaminopathy

Disease definition

Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.


Classification level: Disorder
  • Synonym(s):
    • MMD3
    • Miyoshi muscular dystrophy type 3
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Adolescent, Adult
  • ICD-10: G71.0
  • OMIM: 613319
  • UMLS: C2750076
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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