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Autosomal dominant spastic paraplegia type 8

Disease definition

A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia.

ORPHA:100989

Classification level: Disorder
  • Synonym(s):
    • SPG8
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Adult
  • ICD-10: G11.4
  • ICD-11: 8B44.00
  • OMIM: 603563
  • UMLS: C1863704
  • MeSH: -
  • GARD: 9591
  • MedDRA: -

  A summary on this disease is available in Deutsch (2021) Español (2021) Français (2021) Nederlands (2021) Português (2021) Italiano (2019)

Detailed information

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Disability

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

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