Orphanet: Autosomal dominant spastic paraplegia type 8
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Autosomal dominant spastic paraplegia type 8

Disease definition

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

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
  • OMIM: 603563
  • UMLS: C1863704
  • MeSH: C536867
  • GARD: 9591
  • MedDRA: -

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