Orphanet: Machado Joseph disease type 2
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Machado-Joseph disease type 2

Disease definition

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.

ORPHA:276241

Classification level: Subtype of disorder
  • Synonym(s):
    • SCA3, Thomas type
    • Spinocerebellar ataxia, Thomas type
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: G11.8
  • OMIM: -
  • UMLS: C0751669
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

The prevalence of this form of MJD is not known. It is the most frequent form of SCA3 and accounts for 57% of all SCA3 cases.

Clinical description

Patients develop the disease in middle adulthood (mean age 40 years). If present, extrapyramidal and peripheral manifestations are mild. Some patients progress within 5 to 10 years to type 1 MJD (see this term) if significant extrapyramidal signs develop, or type 3 MJD (see this term) if significant peripheral signs appear.

Etiology

The disease is caused by CAG repeat expansion mutations in the ATXN3 gene (14q21).

Genetic counseling

MJD follows an autosomal dominant pattern of inheritance.

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

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

Detailed information

General public

Disease review articles

Disability

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.