Orphanet: Distal myopathy with anterior tibial onset
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Distal myopathy with anterior tibial onset

Disease definition

Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.

ORPHA:178400

Classification level: Disorder
  • Synonym(s):
    • Distal anterior compartment myopathy
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Adolescent, Adult
  • ICD-10: G71.0
  • OMIM: 606768
  • UMLS: C1847532
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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