ORPHA:98811
Paroxysmal exertion-induced dyskinesia
Synonyms: DYT18 · Dystonia 18 · PED
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paroxysmal exertion-induced dyskinesia | DYT18 · Dystonia 18 · PED |
| fr | Dyskinésie paroxystique induite par l'effort | DYT18 · Dystonie 18 · PED |
| de | Paroxysmale anstrengungsinduzierte Dyskinesie | DYT18 · Dystonie 18 · PED |
| es | Discinesia paroxística inducida por el ejercicio | DYT18 · Distonía 18 |
| it | Discinesia parossistica indotta da sforzo | DYT18 · Distonia 18 · PED |
| nl | Paroxysmale inspanningsgeïnduceerde dyskinesie | DYT18 · Dystonie 18 · PED |
| pt | Discinesia paroxística induzida por esforço | DYT18 · Distonia 18 · PED |
| pl | Napadowa dyskineza wywoływana wysiłkiem | Dystonia 18 · Napadowa dyskineza wywołana wysiłkiem |
| cs | Paroxyzmální námahová dyskineze | DYT18 · Dystonie 18 · PED |
| uk | Пароксизмальна дискінезія, спричинена фізичним навантаженням | Дистонія 18 · DYT18 · PED |
| zh | 阵发性劳力诱发性运动障碍 | 肌张力障碍18型 |
| tr | Paroksismal efor kaynaklı diskinezi | PED · DYT18 · Distoni 18 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612126 | E | validated | |
| ICD-10 | G24.8 | NTBT | attributed | validated |
| ICD-11 | 8A02.2 | NTBT | index | validated |
| MeSH | C564288 | E | validated | |
| UMLS | C1842534 | E | validated | |
| GARD | 10541 | 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:1431Paroxysmal dyskinesia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRRT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30500 | ENSG00000167371 | 614386 | 16p11.2 | proline rich transmembrane protein 2 | 22902309[PMID]_22209761[PMID]_23398397[PMID] |
| SLC2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11005 | ENSG00000117394 | 138140 | 1p34.2 | solute carrier family 2 member 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 18577546[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
17 annotations · validated 2017-04-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001266 | Choreoathetosis | |
| HP:0001332 | Dystonia | |
| HP:0007166 | Paroxysmal dyskinesia | |
| Frequent (79-30%) | ||
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0001249 | Intellectual disability | |
| HP:0004305 | Involuntary movements | |
| HP:0003401 | Paresthesia | |
| HP:0001250 | Seizure | |
| HP:0001304 | Torsion dystonia | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0001251 | Ataxia | |
| HP:0002072 | Chorea | |
| HP:0000737 | Irritability | |
| HP:0001328 | Specific learning disability | |
| Very rare (<4-1%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0002061 | Lower limb spasticity | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 18577546[PMID]_11076005[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98811
- This record as JSON: /data/d/98811.json