Dopa-responsive dystonia
Synonyms: HPD with diurnal fluctuation · Hereditary progressive dystonia with diurnal fluctuation
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Childhood
- Status
- active
Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dopa-responsive dystonia | HPD with diurnal fluctuation · Hereditary progressive dystonia with diurnal fluctuation |
| fr | Dystonie dopa-sensible | Dystonie progressive héréditaire avec fluctuations diurnes |
| de | Dopa-sensitive Dystonie | HPD mit Tagesschwankungen · Hereditäre progressive Dystonie mit Tagesschwankungen |
| es | Distonía dopa-sensible | Distonía progresiva hereditaria con fluctuación diurna · HPD con fluctuación diurna |
| it | Distonia Dopa-sensibile | Distonia progressiva ereditaria con fluttuazione diurna · HPD con fluttuazione diurna |
| nl | Doparesponsieve dystonie | Erfelijke progressieve dystonie met dagelijkse fluctuaties · HPD met dagelijkse schommelingen |
| pt | Distonia sensível à dopa | Distonia progressiva hereditária com variação diurna marcada · Síndrome Segawa |
| pl | Dystonia wrażliwa na lewodopę | Dziedziczna postępująca dystonia z wahaniami dobowymi · HPD z wahaniami dobowymi |
| cs | Dopa-responzivní dystonie | HPD s diurnální fluktuací · Hereditární progresivní dystonie s diurnální fluktuací |
| uk | Дофа-залежна дистонія | Спадкова прогресуюча дистонія з добовими коливаннями · HPD з добовим коливанням |
| zh | 多巴反应性肌张力障碍 | 遗传性进行性肌张力不全伴昼夜波动 |
| tr | Dopa-duyarlı distoni | Diurnal dalgalanma ile seyreden HPD · Diurnal dalgalanma ile seyreden kalıtsal ilerleyici distoni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 8A02.11 | NTBT | index | validated |
| MONDO | 0016812 | E | validated | |
| MONDO | 16812 | E | validated | |
| MeSH | C538007 | E | validated | |
| UMLS | C1851920 | E | validated | |
| GARD | 12144 | E | validated | |
| MedDRA | 10080034 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309819Disorder of pterin metabolism
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Worldwide | Value and class | Validated | 8420194[PMID]_19533203[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/255
- This record as JSON: /data/d/255.json