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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.

ORPHA:399096

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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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.