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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.
Features include very common findings: Progressive external ophthalmoplegia, Dystonia, Movement control problems (abnormality of extrapyramidal motor function), and Progressive cerebellar ataxia and others; 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 | Dystonia, Movement control problems (abnormality of extrapyramidal motor function), Progressive cerebellar ataxia |
Biomarker and diagnostic research for Machado-Joseph disease type 1 has been reported in the published literature.
Phenotype severity distribution: 7 very common features, 18 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.
121 publications have been identified in PubMed for Machado-Joseph disease type 1. Research spans Basic Science / Preclinical (34%), Epidemiology / Natural History (25%), and Gene Therapy / Novel Therapeutics (12%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 41 | 34% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Machado-Joseph disease type 1
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 | 30 | 25% |
New treatment approaches | 14 | 12% |
Testing and diagnosis research | 11 | 9% |
Research summaries | 10 | 8% |
Clinical study results | 8 | 7% |
Patient case studies | 5 | 4% |
Other research | 2 | 2% |
Henriques C (2026). [PMID: 41077785](https://pubmed.ncbi.nlm.nih.gov/41077785/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Robinson KJ (2026). [PMID: 41493127](https://pubmed.ncbi.nlm.nih.gov/41493127/). *Hum Mol Genet*. [Basic Science / Preclinical]
Maas RPPWM (2026). [PMID: 41654200](https://pubmed.ncbi.nlm.nih.gov/41654200/). *Neurobiology of disease*. [Epidemiology / Natural History]
Chiu C (2026). [PMID: 41756352](https://pubmed.ncbi.nlm.nih.gov/41756352/). *Experimental and therapeutic medicine*. [Diagnostic / Biomarker]
Liu F (2026). [PMID: 41562293](https://pubmed.ncbi.nlm.nih.gov/41562293/). *Mov Disord*. [Diagnostic / Biomarker]
Ye M (2026). [PMID: 41983302](https://pubmed.ncbi.nlm.nih.gov/41983302/). *Mol Genet Genomic Med*. [Epidemiology / Natural History]
Chen LW (2026). [PMID: 42183960](https://pubmed.ncbi.nlm.nih.gov/42183960/). *Cerebellum*. [Basic Science / Preclinical]
Melzer I (2026). [PMID: 42115447](https://pubmed.ncbi.nlm.nih.gov/42115447/). *Cerebellum*. [Review / Meta-Analysis]
Silva A (2026). [PMID: 41306023](https://pubmed.ncbi.nlm.nih.gov/41306023/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Gene Therapy / Novel Therapeutics]
Baumeister H (2026). [PMID: 41443080](https://pubmed.ncbi.nlm.nih.gov/41443080/). *EBioMedicine*. [Basic Science / Preclinical]