Orphanet: Autosomal dominant spastic paraplegia type 17

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Autosomal dominant spastic paraplegia type 17

Disease definition

A complex hereditary spastic paraplegia characterized by progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense. Association with hand muscles amyotrophy typical.


Classification level: Disorder
  • Synonym(s):
    • SPG17
    • Silver syndrome
    • Spastic paraplegia-amyotrophy of hands and feet
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: G11.4
  • ICD-11: 8B44.00
  • OMIM: 270685
  • UMLS: C2931276
  • MeSH: -
  • GARD: 4219
  • MedDRA: -

Detailed information

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FSMR : produced/endorsed by FSMR(s)
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