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Young adult-onset distal hereditary motor neuropathy

Disease definition

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

ORPHA:314485

  • Synonym(s):
    • Autosomal recessive distal spinal muscular atrophy type 5
    • Young adult-onset dHMN
    • dSMA5
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: G12.2
  • OMIM: 614881
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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