ORPHA:254851
Mitochondrial DNA-related dystonia
Synonyms: Maternally-inherited mitochondrial dystonia · mtDNA-related dystonia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Childhood
- Status
- active
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA-related dystonia | Maternally-inherited mitochondrial dystonia · mtDNA-related dystonia |
| fr | Dystonie due à une mutation de l'ADN mitochondrial | Dystonie due à une mutation de l'ADNmt · Dystonie mitochondriale de transmission maternelle |
| de | Mitochondriale DNA-assoziierte Dystonie | Maternal vererbte mitochondriale Dystonie · mtDNA-assoziierte Dystonie |
| es | Distonía asociada al ADN mitocondrial | Distonía asociada al ADNmt · Distonía mitocondrial de herencia materna |
| it | Distonia mitocondriale a trasmissione materna | |
| nl | Mitochondriaal DNA-gerelateerde dystonie | Maternaal overgeërfde mitochondriale dystonie · mtDNA-gerelateerde dystonie |
| pt | Distonia relacionada com ADN mitocondrial | Distonia mitocondrial com hereditariedade materna |
| pl | Dystonia mitochondrialna dziedziczona od matki | = en |
| cs | Maternálně dědičná mitochondriální dystonie | = en |
| uk | Мітохондріальна ДНК-повязана дистонія | Мітохондріальна дистонія, успадкована від матері · Дистонія, повязана з мтДНК |
| zh | 线粒体DNA相关肌张力障碍 | 母系遗传的线粒体肌张力障碍 |
| tr | Mitokondriyal DNA -ilişkili distoni | mtDNA-ilişkili distoni · Maternal-geçişli mitokondriyal distoni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G24.8 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0016806 | E | validated | |
| UMLS | C4274074 | 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:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254851
- This record as JSON: /data/d/254851.json