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Autosomal spastic paraplegia type 58

Disease definition

A rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.

ORPHA:397946

Classification level: Disorder
  • Synonym(s):
    • Autosomal spastic ataxia type 2
    • SPAX2
    • SPG58
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult, Elderly, Infancy
  • ICD-10: G11.4
  • OMIM: 611302
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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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.