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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.
Features include very common findings: Progressive external ophthalmoplegia, Movement control problems (abnormality of extrapyramidal motor function), Progressive cerebellar ataxia, and Distal lower limb amyotrophy; and common findings: Babinski sign, Facial-lingual fasciculations, Progressive gait ataxia, and Abnormal pyramidal sign and others. 38 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 16 |
Biomarker and diagnostic research for Machado-Joseph disease type 3 has been reported in the published literature.
Phenotype severity distribution: 4 very common features, 25 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.
112 publications have been identified in PubMed for Machado-Joseph disease type 3. Research spans Basic Science / Preclinical (26%), Epidemiology / Natural History (24%), and Diagnostic / Biomarker (13%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 29 | 26% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Machado-Joseph disease type 3
Muscles | 5 | Facial-lingual fasciculations, Muscle spasm, Shrinkage of the cerebellum (cerebellar atrophy) |
Eyes | 2 | Gaze-evoked nystagmus, Diplopia |
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 |
Bones and joints | 1 | Skeletal muscle atrophy |
Lab test results | 1 | Abnormal electrical muscle activity (EMG) (emg abnormality) |
Disease patterns and progression |
27 |
24% |
Testing and diagnosis research | 15 | 13% |
Research summaries | 13 | 12% |
Clinical study results | 11 | 10% |
New treatment approaches | 11 | 10% |
Patient case studies | 5 | 4% |
Other research | 1 | 1% |
Roney M (2026). [PMID: 41644963](https://pubmed.ncbi.nlm.nih.gov/41644963/). *Sci Rep*. [Gene Therapy / Novel Therapeutics]
Petit E (2026). [PMID: 41150672](https://pubmed.ncbi.nlm.nih.gov/41150672/). *Brain*. [Diagnostic / Biomarker]
Takubo M (2026). [PMID: 41672542](https://pubmed.ncbi.nlm.nih.gov/41672542/). *Intern Med*. [Basic Science / Preclinical]
Tang MB (2026). [PMID: 41701293](https://pubmed.ncbi.nlm.nih.gov/41701293/). *Mol Neurobiol*. [Gene Therapy / Novel Therapeutics]
Chiu C (2026). [PMID: 41756352](https://pubmed.ncbi.nlm.nih.gov/41756352/). *Exp Ther Med*. [Diagnostic / Biomarker]
Melzer I (2026). [PMID: 42115447](https://pubmed.ncbi.nlm.nih.gov/42115447/). *Cerebellum*. [Review / Meta-Analysis]
Maas RPPWM (2026). [PMID: 41218516](https://pubmed.ncbi.nlm.nih.gov/41218516/). *Clin Neurophysiol*. [Basic Science / Preclinical]
Laffita-Mesa JM (2026). [PMID: 42067958](https://pubmed.ncbi.nlm.nih.gov/42067958/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]
Paulino LA (2026). [PMID: 41395683](https://pubmed.ncbi.nlm.nih.gov/41395683/). *Expert Rev Neurother*. [Review / Meta-Analysis]
Silva A (2026). [PMID: 41306023](https://pubmed.ncbi.nlm.nih.gov/41306023/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Basic Science / Preclinical]