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Autosomal dominant spastic paraplegia type 10

Disease definition

A rare, hereditary spastic paraplegia that can present as either a pure or complex phenotype. The pure form is characterized by lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence. The complex form is characterized by the association with additional manifestations including peripheral neuropathy with upper limb muscle atrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa have also been reported.

ORPHA:100991

Classification level: Disorder
  • Synonym(s):
    • SPG10
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: G11.4
  • ICD-11: 8B44.00
  • OMIM: 604187
  • UMLS: C1858712
  • MeSH: C537482
  • GARD: 9590
  • 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.