Machado-Joseph disease type 1
Findings
No curated finding names Machado-Joseph disease type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs.
Definition from the Mondo Disease Ontology (MONDO:0017174), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal pyramidal signHPOHP:0007256
- Very frequent (80% to 99% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Very frequent (80% to 99% of cases)
- DystoniaHPOHP:0001332
- Very frequent (80% to 99% of cases)
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- Very frequent (80% to 99% of cases)
- Progressive external ophthalmoplegiaHPOHP:0000590
- Very frequent (80% to 99% of cases)
- Upper motor neuron dysfunctionHPOHP:0002493
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- Degeneration of the striatumHPOHP:0040140
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
Show the remaining 22
- Dilated fourth ventricleHPOHP:0002198
- Frequent (30% to 79% of cases)
- DiplopiaHPOHP:0000651
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Facial-lingual fasciculationsHPOHP:0007089
- Frequent (30% to 79% of cases)
- Gaze-evoked nystagmusHPOHP:0000640
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATXN3HGNC:7106
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Machado-Joseph disease type 1
- Also called
- azorean disease, type iSCA3, Joseph typespinocerebellar ataxia type 3, Joseph type