Orphanet: Distal hereditary motor neuropathy type 5
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Distal hereditary motor neuropathy type 5

Disease definition

A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.

ORPHA:139536

Classification level: Disorder
  • Synonym(s):
    • Distal HMN V
    • Distal hereditary motor neuropathy type V
    • Distal spinal muscular atrophy type 5
    • dHMN5
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Childhood, Adult
  • ICD-10: G12.2
  • ICD-11: 8B61.4
  • OMIM: 600794  614751  619112
  • UMLS: C1833308
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2022) Français (2022) Nederlands (2022)

Detailed information

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

Additional information

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