Orphanet: Autosomal recessive spastic ataxia with leukoencephalopathy
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Autosomal recessive spastic ataxia with leukoencephalopathy

Disease definition

A rare, genetic, autosomal recessive spastic ataxia disease characterized by cerebellar ataxia, spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.

ORPHA:314603

Classification level: Disorder
  • Synonym(s):
    • ARSAL
    • Autosomal recessive spastic ataxia type 3
    • SPAX3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: E88.8
  • OMIM: 611390
  • UMLS: C1969645
  • MeSH: -
  • GARD: -
  • MedDRA: -

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

Detailed information

Guidelines

Disease review articles

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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