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Machado-Joseph disease type 1
Disease definition
Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.
ORPHA:276238
Classification level: Subtype of disorder- Synonym(s):
- SCA3, Joseph type
- Spinocerebellar ataxia type 3, Joseph type
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: Adult, Childhood
- ICD-10: G11.8
- ICD-11: 8A03.16
- OMIM: -
- UMLS: C0751668
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
The prevalence of this form of MJD is not known. It accounts for 13% of all SCA3 cases.
Clinical description
Onset is generally early (mean of 24 years) and symptoms progress rapidly. MJD Type 1 patients generally present with cerebellar signs and external progressive ophthalmoplegia with variable degrees of pyramidal manifestations (spasticity, hyperreflexia). Patients also have extrapyramidal signs including dystonia.
Etiology
The disease is caused by CAG repeat expansion mutations in the ATXN3 gene (14q21). Patients with this subtype of SCA3 tend to have larger CAG expansions than those with other subtypes.
Genetic counseling
MJD follows an autosomal dominant pattern of inheritance.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011)
Detailed information
General public
- Article for general public
- English (2012) - Socialstyrelsen
- Français (2014, pdf) - Orphanet
- Svenska (2021) - Socialstyrelsen
Disease review articles
- Review article
- English (2011, pdf) - Orphanet J Rare Dis
- Clinical genetics review
- English (2020) - GeneReviews
Disability
- Disability factsheet
- Français (2014, pdf) - Orphanet
- Español (2017, pdf) - Orphanet
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)Additional information