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Autosomal dominant spastic paraplegia type 38

Disease definition

A complex hereditary spastic paraplegia characterized by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported.

ORPHA:171617

Classification level: Disorder
  • Synonym(s):
    • SPG38
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: G11.4
  • ICD-11: 8B44.00
  • OMIM: 612335
  • UMLS: C2676732
  • MeSH: C567349
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Italiano (2018) Español (2021) Français (2021) Nederlands (2021) Português (2021)

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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.