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Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
Features include very common findings: Progressive external ophthalmoplegia, Movement control problems (abnormality of extrapyramidal motor function), and Progressive cerebellar ataxia; and common findings: Proptosis, Supranuclear ophthalmoplegia, Gaze-evoked nystagmus, and Diplopia and others. 34 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 16 | Movement control problems (abnormality of extrapyramidal motor function), Progressive cerebellar ataxia, Delayed speech and language development |
Biomarker and diagnostic research for Machado-Joseph disease type 2 has been reported in the published literature.
Phenotype severity distribution: 3 very common features, 22 common features.
Estimated prevalence: Unknown (Unknown prevalence).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
36 publications have been identified in PubMed for Machado-Joseph disease type 2. Research spans Basic Science / Preclinical (25%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 9 | 25% |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:22 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Machado-Joseph disease type 2
Muscles | 4 | Shrinkage of the cerebellum (cerebellar atrophy), Skeletal muscle atrophy, Facial-lingual fasciculations |
Eyes | 2 | Gaze-evoked nystagmus, Diplopia |
Bones and joints | 1 | Skeletal muscle atrophy |
Head and neck | 1 | Facial-lingual fasciculations |
Ears | 1 | Abnormal vestibular function |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Arms and legs | 1 | Distal lower limb amyotrophy |
Disease patterns and progression |
8 |
22% |
Research summaries | 5 | 14% |
Clinical study results | 5 | 14% |
New treatment approaches | 4 | 11% |
Testing and diagnosis research | 3 | 8% |
Patient case studies | 2 | 6% |
Petit E (2026). [PMID: 41150672](https://pubmed.ncbi.nlm.nih.gov/41150672/). *Brain*. [Diagnostic / Biomarker]
Henriques C (2026). [PMID: 41077785](https://pubmed.ncbi.nlm.nih.gov/41077785/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Leeuwenberg KE (2026). [PMID: 41501569](https://pubmed.ncbi.nlm.nih.gov/41501569/). *J Neurol*. [Diagnostic / Biomarker]
Maas RPPWM (2026). [PMID: 41654200](https://pubmed.ncbi.nlm.nih.gov/41654200/). *Neurobiol Dis*. [Epidemiology / Natural History]
Silva P (2026). [PMID: 41105366](https://pubmed.ncbi.nlm.nih.gov/41105366/). *CNS Drugs*. [Epidemiology / Natural History]
Wang Z (2026). [PMID: 41715186](https://pubmed.ncbi.nlm.nih.gov/41715186/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]
Baumeister H (2026). [PMID: 41443080](https://pubmed.ncbi.nlm.nih.gov/41443080/). *EBioMedicine*. [Epidemiology / Natural History]
Auburger GWJ (2026). [PMID: 41683920](https://pubmed.ncbi.nlm.nih.gov/41683920/). *Int J Mol Sci*. [Review / Meta-Analysis]
Laffita-Mesa JM (2026). [PMID: 42067958](https://pubmed.ncbi.nlm.nih.gov/42067958/). *Acta Neuropathol Commun*. [Review / Meta-Analysis]
Chen LW (2026). [PMID: 42183960](https://pubmed.ncbi.nlm.nih.gov/42183960/). *Cerebellum*. [Basic Science / Preclinical]