Machado-Joseph disease type 3
Findings
No curated finding names Machado-Joseph disease type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.
Definition from the Mondo Disease Ontology (MONDO:0017176), read 2026-09-29. CC BY 4.0.
Features
38 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.
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Very frequent (80% to 99% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- 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)
- Abnormal lower motor neuron morphologyHPOHP:0002366
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% 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 anterior horn cellsHPOHP:0002398
- 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 26
- Dilated fourth ventricleHPOHP:0002198
- Frequent (30% to 79% of cases)
- DiplopiaHPOHP:0000651
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- EMG abnormalityHPOHP:0003457
- 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 3
- Also called
- azorean disease, type iiiSCA3, Machado typespinocerebellar ataxia type 3, Machado type