ORPHA:98757
Spinocerebellar ataxia type 3
Synonyms: Azorean disease of the nervous system · MJD · Machado disease · Machado-Joseph disease · Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia · SCA3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Childhood
- Status
- active
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 3 | Azorean disease of the nervous system · MJD · Machado disease · Machado-Joseph disease · Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia · SCA3 |
| fr | Ataxie spinocérébelleuse type 3 | MJD · Maladie de Machado-Joseph · SCA3 |
| de | Ataxie, spinozerebelläre, Typ 3 | Azoren-Krankheit des Nervensystems · Degeneration, nigro-spino-dentale, mit nukleärer Ophthalmoplegie · MJD · Machado-Joseph-Krankheit · Machado-Krankheit · SCA3 |
| es | Ataxia espinocerebelosa tipo 3 | Degeneración nigroespinodental con oftalmoplejía nuclear · EMJ · Enfermedad de Machado · Enfermedad de Machado-Joseph · Enfermedad de las Azores del sistema nervioso · SCA3 |
| it | Atassia spinocerebellare, tipo 3 | Degenerazione nigro-spino-dentata con oftalmoplegia nucleare · Degenerazione nigrostriatale autosomica dominante · MJD · Malattia delle Azzorre con coinvolgimento del sistema nervoso · Malattia di Machado · Malattia di Machado-Joseph · SCA3 |
| nl | Spinocerebellaire ataxie type 3 | Azorenziekte van het zenuwstelsel · MJD · Nigro-spino-dentatale degeneratie met nucleaire oftalmoplegie · SCA3 · Ziekte van Machado · Ziekte van Machado-Joseph |
| pt | Ataxia espinocerebelosa tipo 3 | Doença de Machado-Joseph · MJD · SCA3 |
| pl | Ataksja rdzeniowo-móżdżkowa typu 3 | Autosomalnie dominujące zwyrodnienie nigrostriatalne · Azorańska choroba układu nerwowego · Choroba Machado · Choroba Machado i Josepha · MJD |
| cs | Spinocerebelární ataxie, typ 3 | MJD · Machadova choroba · Machadova-Josephova choroba · Nigro-spino-dentální degenerace s nukleární oftalmoplegií · SCA3 · Autozomálně dominantní striatonigrální degenerace · Azorské onemocnění nervového systému · Machado-Josephova choroba |
| uk | Спіноцеребеллярна атаксія, тип 3 | Азорська хвороба нервової системи · Хвороба Мачадо · Хвороба Мачадо-Жозефа · MJD · Нігро-спіно-дентальна дегенерація з ядерною офтальмоплегією · SCA3 |
| zh | 脊髓小脑共济失调3型 | 黑质-脊髓-齿变性伴核性眼肌麻痹 |
| tr | Spinoserebellar ataksi tip 3 | MJD · SCA3 · Machado hastalığı · Machado-Joseph hastalığı · Azor sinir sistemi hastalığı · Nükleer oftalmoplejili nigro-spino-dentatal dejenerasyon |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 109150 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | NTBT | index | validated |
| MONDO | 0007182 | E | validated | |
| MeSH | D017827 | E | validated | |
| UMLS | C0024408 | E | validated | |
| GARD | 6801 | 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 (2):
- ORPHA:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:158266Huntington disease-like syndrome
rare genetic diseases; rare neurological diseases
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ATXN3 | ORPHA:276238Machado-Joseph disease type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7106 | ENSG00000066427 | 607047 | 14q32.12 | ataxin 3 | |
| ATXN3 | ORPHA:276241Machado-Joseph disease type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7106 | ENSG00000066427 | 607047 | 14q32.12 | ataxin 3 | |
| ATXN3 | ORPHA:276244Machado-Joseph disease type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7106 | ENSG00000066427 | 607047 | 14q32.12 | ataxin 3 |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Portugal | Value and class | Validated | 21635785[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.5 / 100 000 | Japan | Value and class | Validated | 19169038[PMID] |
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
16 annotations · validated 2017-04-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0002312 | Clumsiness | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0001347 | Hyperreflexia | |
| HP:0000639 | Nystagmus | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| HP:0000520 | Proptosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001751 | Abnormal vestibular function | |
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0001605 | Vocal cord paralysis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301375[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98757
- This record as JSON: /data/d/98757.json