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Autosomal dominant spastic paraplegia type 6

Disease definition

A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.

ORPHA:100988

Classification level: Disorder
  • Synonym(s):
    • SPG6
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: G11.4
  • ICD-11: 8B44.00
  • OMIM: 600363
  • UMLS: C1838192
  • MeSH: C536866
  • GARD: 4928
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Italiano (2017) Español (2021) Français (2021) Nederlands (2021) Português (2021) Polski (2017, pdf)

Detailed information

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Disease review articles

Disability

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

Additional information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.