Orphanet: Distal hereditary motor neuropathy type 1
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Distal hereditary motor neuropathy type 1

Disease definition

Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.

ORPHA:139518

Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant distal juvenile spinal muscular atrophy type 1
    • dHMN1
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G12.2
  • OMIM: 182960
  • UMLS: C1866784
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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