Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Synonyms: DYT9 · Episodic choreoathetosis/spasticity
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic, paroxysmal dystonia disorder characterized by childhood to adolescent-onset of episodic paroxysmal choreoathetosis, triggered mainly by sudden movements, prolonged exercise, anxiety and emotional stress, in association with progressive spastic paraparesis (onest in adulthood), gait ataxia, mild to moderate cognitive impairment, and/or epileptic seizures. Episodes typically last from a few minutes to hours, have a variable frequency (daily to yearly), and are relieved by rest. Frequency of episodes tends to decrease with age.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | DYT9 · Episodic choreoathetosis/spasticity |
| fr | Choréoathétose dystonique paroxystique avec ataxie épisodique et spasticité | Choréoathétose/spasticité épisodiques · DYT9 |
| de | Paroxysmale dystonische Choreoathetose mit episodischer Ataxie und Spastik | Choreoathetose/Spastik, episodisch · DYT9 |
| es | Coreoatetosis distónica paroxística con ataxia episódica y espasticidad | Coreoatetosis/espasticidad episódicas · DYT9 |
| it | Coreoatetosi distonica parossistica con atassia episodica e spasticità | Coreoatetosi/spasticità episodiche · DYT9 |
| nl | Paroxysmale dystonische choreathetose met episodische ataxie en spasticiteit | DYT9 · Episodische choreoathetose/spasticiteit |
| pt | Coreoatetose - espasticidade, episódica | |
| pl | Napadowa choreoatetoza dystoniczna z epizodyczną ataksją i spastycznością | Choreoatetoza/spastyczność epizodyczna · DYT9 |
| cs | Paroxysmální dystonická choreoatetóza s epizodickou ataxií a spasticitou | DYT9 · Epizodická choreoatetóza/spasticita |
| uk | Пароксизмальний дистонічний хореатетоз з епізодичною атаксією та спастичністю | DYT9 · Епізодичний хореоатетоз/спастичність |
| zh | 阵发性肌张力障碍性舞蹈病伴发作性共济失调和痉挛 | 发作性舞蹈手足徐动症/痉挛状态 |
| tr | Epizodik ataksi ve spastisite ile seyreden paroksismal distonik koreatetoz | DYT9 · Epizodik koreoatetoz/spastisite |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601042 | E | validated | |
| ICD-10 | G24.8 | NTBT | attributed | validated |
| ICD-11 | 8A02.2 | NTBT | index | validated |
| MONDO | 0010983 | E | validated | |
| MeSH | C563401 | E | validated | |
| UMLS | C1832855 | 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 (1):
- ORPHA:200037Paroxysmal dystonia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11005 | ENSG00000117394 | 138140 | 1p34.2 | solute carrier family 2 member 1 | 21832227[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 21832227[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21832227[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
13 annotations · validated 2018-07-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007166 | Paroxysmal dyskinesia | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001266 | Choreoathetosis | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0002131 | Episodic ataxia | |
| HP:0002315 | Headache | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0003401 | Paresthesia | |
| HP:0001258 | Spastic paraplegia | |
| Very rare (<4-1%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20482602[PMID]_8808284[PMID]_21832227[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53583
- This record as JSON: /data/d/53583.json