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Spinocerebellar ataxia type 4

Disease definition

Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.

ORPHA:98765

Classification level: Disorder
  • Synonym(s):
    • SCA4
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G11.2
  • ICD-11: 8A03.16
  • OMIM: 600223
  • UMLS: C0752122
  • MeSH: -
  • GARD: 9970
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown.

Clinical description

SCA4 typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss.

Etiology

The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats.

Prognosis

There is insufficient clinical data to draw conclusions concerning prognosis.

Expert reviewer(s):  Dr Shinsuke FUJIOKA - Dr Nathaniel WHALEY - Dr Zbigniew WSZOLEK - Last update: May 2011

  A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2012, pdf)

Detailed information

General public

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

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.