ORPHA:163727
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Synonyms: Rolandic epilepsy exercise-induced dystonia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | Rolandic epilepsy exercise-induced dystonia |
| fr | Syndrome d'épilepsie rolandique-dystonie paroxystique induite par l'effort-crampe de l'écrivain | |
| de | Rolando-Epilepsie-paroxysmale anstrengungsinduzierte Dyskinesie-Schreibkrampf-Syndrom | |
| es | Síndrome de epilepsia rolándica-distonía paroxística inducida por ejercicio-calambre del escritor | |
| it | Sindrome epilessia rolandica-distonia parossistica indotta dall'esercizio-crampo dello scrittore | |
| nl | Rolandische epilepsie - paroxysmale inspanningsgeïnduceerde dystonie - schrijfkramp-syndroom | |
| pt | Síndrome de epilepsia rolândica-distonia induzida por exercício paroxismal-cãibra do escritor | |
| pl | Padaczka rolandyczna - napadowa dystonia wywołana wysiłkiem - kurcz pisarski | = en |
| cs | Syndrom zahrnující rolandickou epilepsii, paroxysmální dystonii vyvolanou cvičením a písařskou křeč | = en |
| uk | Синдром роландичної епілепсії-пароксизмальної дистонії, спричиненої фізичними навантаженнями-судом писаря | Дистонія, спричинена фізичними навантаженнями при роландовій епілепсії |
| zh | Rolandic 癫痫-运动诱发肌张力障碍-书写痉挛综合征 | Rolandic癫痫 运动诱发性肌张力障碍 |
| tr | Rolandik epilepsi-paroksismal egzersize bağlı distoni-yazar kramp sendromu | Rolandik epilepsi egzersize bağlı distoni |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608105 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| ICD-11 | 8A61.2Y | NTBT | index | validated |
| MONDO | 0011970 | E | validated | |
| MeSH | C535499 | E | validated | |
| UMLS | C1842531 | 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:98259Childhood-onset epilepsy syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| TBC1D24 | Disease-causing germline mutation(s) in | Assessed | HGNC:29203 | ENSG00000162065 | 613577 | 16p13.3 | TBC1 domain family member 24 | 31257402[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 10072049[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10072049[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
8 annotations · validated 2018-03-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012012 | EEG with parietal focal spike waves | |
| HP:0011295 | EEG with parietal sharp waves | |
| HP:0007332 | Focal hemifacial clonic seizure | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0002268 | Paroxysmal dystonia | |
| HP:0007104 | Prolonged somatosensory evoked potentials | |
| HP:0002356 | Writer's cramp | |
| Occasional (29-5%) | ||
| HP:0001250 | Seizure | |
Annotation source: 10072049[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163727
- This record as JSON: /data/d/163727.json