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Autosomal spastic paraplegia type 30

Disease definition

Autosomal spastic paraplegia type 30 is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.

ORPHA:101010

  • Synonym(s):
    • SPG30
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: G11.4
  • OMIM: 610357
  • UMLS: C1835896
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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