ORPHA:256
Early-onset generalized limb-onset dystonia
Synonyms: Dystonia musculorum deformans · EOTD · Early-onset generalized torsion dystonia · Early-onset isolated dystonia · Early-onset primary dystonia · Early-onset torsion dystonia · Idiopathic torsion dystonia · Oppenheim dystonia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset generalized limb-onset dystonia | Dystonia musculorum deformans · EOTD · Early-onset generalized torsion dystonia · Early-onset isolated dystonia · Early-onset primary dystonia · Early-onset torsion dystonia · Idiopathic torsion dystonia · Oppenheim dystonia |
| fr | Dystonie généralisée à début précoce par les membres | Dystonie d'Oppenheim · Dystonie de torsion à début précoce · Dystonie généralisée primaire à début précoce · Dystonie idiopathique de torsion · Dystonie isolée à début précoce · Dystonie musculaire déformante · Dystonie primaire à début précoce · EOTD |
| de | Früh beginnende generalisierte Dystonie der Extremitäten | DYT1 · Dystonia musculorum deformans · Dystonie, idiopathische · EOTD · Früh beginnende isolierte Dystonie · Früh-einsetzende primäre Dystonie · Idiopathische Torsionsdystonie · Oppenheim-Dystonie · Torsionsdystonie, früh beginnende |
| es | Distonía generalizada de las extremidades de inicio precoz | Distonía aislada de inicio precoz · Distonía de Oppenheim · Distonía de torsión de inicio precoz · Distonía de torsión generalizada de inicio precoz · Distonía de torsión idiopática · Distonía muscular deformante · Distonía primaria de inicio precoz |
| it | Distonia generalizzata precoce ad esordio negli arti | DYT1 · Distonia deformante dei muscoli · Distonia di Oppenheim · Distonia di torsione idiopatica · Distonia generalizzata di torsione a esordio precoce · Distonia idiopatica · Distonia primaria a esordio precoce · Distornia di torsione a esordio precoce · EOTD |
| nl | Vroeg beginnende gegeneraliseerde dystonie met aanvang in de ledematen | Dystonia musculorum deformans · Dystonie van Oppenheim · EOTD · Gegeneraliseerde torsiedystonie met vroege aanvang · Geïsoleerde dystonie met vroege aanvang · Idiopathische torsiedystonie · Primaire dystonie met vroege aanvang · Vroeg beginnende torsiedystonie |
| pt | Distonia generalizada dos membros de início precoce | Distonia de torção idiopática · Distonia idiopática DYT1 · Distonia muscular deformante · Distonia predominantemente generalizada · Distonia primária · Distonia de Oppenheim |
| pl | Uogólniona dystonia o wczesnym początku rozpoczynająca się od kończyn | Dystonia idiopatyczna · Dystonia mięśniowa deformująca · Dystonia Oppenheim · DYT1 · EOTD · Idiopatyczna dystonia torsyjna · Pierwotna dystonia o wczesnym początku · Uogólniona dystonia torsyjna o wczesnym początku · Wczesna dystonia torsyjna |
| cs | DYT1 | Dystonia musculorum deformans · EOTD · Idiopatická dystonie · Idiopatická torzní dystonie · Oppenheimova dystonie · Ziehenova-Oppenheimova nemoc · Časně nasedající generalizovaná dystonie postihující končetiny · Časně nasedající generalizovaná torzní dystonie · Časně nasedající primární dystonie · Časně nasedající torzní dystonie · Ziehen-Oppenheimova nemoc |
| uk | Ранній початок генералізованої дистонії кінцівок | Деформаційна мязова дистонія · Ранній початок генералізованої торсійної дистонії · Ранній початок ізольованої дистонії · Первинна дистонія з раннім початком · Ранній початок торсійної дистонії · EOTD · Ідіопатична торсійна дистонія · Дистонія Оппенгейма |
| zh | 早发性全身性肢体肌张力障碍 | 早发性全身性扭转肌张力障碍 |
| tr | Erken başlangıçlı jeneralize ekstremite başlangıçlı distoni | EOTD · Oppenheim distonisi · İdiyopatik torsiyon distonisi · Erken başlangıçlı primer distoni · Erken başlangıçlı torsiyon distonisi · Dystonia musculorum deformans · Erken başlangıçlı izole distoni · Erken başlangıçlı jeneralize torsiyon distonisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 128100 | BTNT | validated | |
| OMIM | 602554 | BTNT | validated | |
| OMIM | 619687 | BTNT | validated | |
| ICD-10 | G24.1 | E | specific | validated |
| ICD-11 | 8A02.0Y | NTBT | index | validated |
| MONDO | 0007492 | E | validated | |
| UMLS | C3888090 | E | validated | |
| GARD | 2027 | E | validated | |
| MedDRA | 10076668 | 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:376724Generalized isolated dystonia
rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EIF2AK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9437 | ENSG00000055332 | 176871 | 2p22.2 | eukaryotic translation initiation factor 2 alpha kinase 2 | 33236446[PMID] |
| SHQ1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25543 | ENSG00000144736 | 613663 | 3p13 | SHQ1, H/ACA ribonucleoprotein assembly factor | 34542157[PMID] |
| TOR1A | Disease-causing germline mutation(s) in | Assessed | HGNC:3098 | ENSG00000136827 | 605204 | 9q34.11 | torsin family 1 member A | 20301665[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 20 / 100 000 | Specific population | Value and class | Validated | 7719342[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.2 / 100 000 | United States | Value and class | Validated | 3264051[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | 17129379[PMID]_23596437[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.4 / 100 000 | United States | Value and class | Validated | 3264051[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 8.3 / 100 000 | France | Value and class | Validated | 17290457[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0001288 | Gait disturbance | |
| HP:0001276 | Hypertonia | |
| Frequent (79-30%) | ||
| HP:0001608 | Abnormality of the voice | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/256
- This record as JSON: /data/d/256.json