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Distal myopathy with anterior tibial onset

Disease definition

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
  • ICD-11: 8C75
  • OMIM: 606768
  • UMLS: C1847532
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

Detailed information

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.