ORPHA:276241
Machado-Joseph disease type 2
Also known as: SCA3, Thomas type · Spinocerebellar ataxia, Thomas type
Clinical definition (Orphanet)
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 and external ophthalmoplegia, with variable pyramidal and extrapyramidal signs.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
0
We found no papers under this exact name — work may still exist under another label.
0 in the last 10 years · low confidence
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for Machado-Joseph disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
4
trials for Machado-Joseph disease, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
low confidence
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
4 interventional trials matched Machado-Joseph disease, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Machado-Joseph disease type 2" OR "SCA3, Thomas type" OR "Spinocerebellar ataxia, Thomas type" OR "azorean disease, type ii"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Machado-Joseph disease type 2" OR "SCA3, Thomas type" OR "Spinocerebellar ataxia, Thomas type" OR "azorean disease, type ii"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C0751669
Query health: broken — strategies attempted: phrase; with hits: none
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Zero publications but parent term Machado-Joseph disease has 3391 — literature likely indexed under a broader name