ORPHA:276241
Machado-Joseph disease type 2
Synonyms: SCA3, Thomas type · Spinocerebellar ataxia, Thomas type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Machado-Joseph disease type 2 | SCA3, Thomas type · Spinocerebellar ataxia, Thomas type |
| fr | Maladie de Machado-Joseph type 2 | Ataxie spinocérébelleuse type Thomas · SCA3 type Thomas |
| de | Machado-Joseph-Krankheit Typ 2 | Ataxie, spinozerebelläre, Typ Thomas · SCA3, Typ Thomas |
| es | Enfermedad de Machado-Joseph tipo 2 | Ataxia espinocerebelosa tipo Thomas · SCA3 tipo Thomas |
| it | Malattia di Machado-Joseph, tipo 2 | Atassia spinocerebellare, tipo Thomas · SCA3, tipo Thomas |
| nl | Ziekte van Machado-Joseph type 2 | SCA3, Thomas-type · Spinocerebellaire ataxie, Thomas-type |
| pt | Doença de MachadoJoseph, tipo 2 | |
| pl | Choroba Machado i Josepha typu 2 | Ataksja rdzeniowo-móżdżkowa typu 3, typ Thomasa · SCA3, typ Thomasa |
| cs | Machado-Josephova nemoc, typ 2 | SCA3, typ Thomas · Spinocerebelární ataxie, typ Thomas |
| uk | Хвороба Мачадо-Жозефа, тип 2 | SCA3, тип Томаса · Спіноцеребеллярна атаксія, тип Томаса |
| zh | Machado-Joseph病2型 | 脊髓小脑共济失调Thomas型 |
| tr | Machado-Joseph hastalığı tip 2 | SCA3, Thomas tipi · Spinoserebellar ataksi, Thomas tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109150 | NTBT | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0017175 | E | validated | |
| UMLS | C0751669 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98757Spinocerebellar ataxia type 3
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATXN3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7106 | ENSG00000066427 | 607047 | 14q32.12 | ataxin 3 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
34 annotations · validated 2017-04-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | Diagnostic criterion |
| HP:0002073 | Progressive cerebellar ataxia | Diagnostic criterion |
| HP:0000590 | Progressive external ophthalmoplegia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003487 | Babinski sign | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002312 | Clumsiness | |
| HP:0040140 | Degeneration of the striatum | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0007089 | Facial-lingual fasciculations | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0001347 | Hyperreflexia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0000520 | Proptosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001257 | Spasticity | |
| HP:0002503 | Spinocerebellar tract degeneration | |
| HP:0011960 | Substantia nigra gliosis | |
| HP:0000623 | Supranuclear ophthalmoplegia | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Occasional (29-5%) | ||
| HP:0001751 | Abnormal vestibular function | |
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0002015 | Dysphagia | |
| HP:0002354 | Memory impairment | |
| HP:0003394 | Muscle spasm | |
| HP:0000011 | Neurogenic bladder | |
| HP:0002360 | Sleep abnormality | |
| HP:0001605 | Vocal cord paralysis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 21635785[PMID]_20301375[PMID]_945867[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276241
- This record as JSON: /data/d/276241.json