ORPHA:98810
Paroxysmal non-kinesigenic dyskinesia
Synonyms: Paroxystic non-kinesigenic choreoathetosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paroxysmal non-kinesigenic dyskinesia | Paroxystic non-kinesigenic choreoathetosis |
| fr | Dyskinésie non kinésigénique paroxystique | Choréoathétose paroxystique non kinésigénique |
| de | Paroxysmale nicht-kinesiogene Dyskinesie | PNKD · Paroxysmale nicht-kinesiogene Choreoathetose |
| es | Discinesia paroxística no cinesigénica | Coreoatetosis paroxística no cinesigénica |
| it | Discinesia non chinesigenica parossistica | Coreatetosi non chinesigenica parossistica |
| nl | Paroxysmale niet-kinesiogene dyskinesie | Paroxystische niet-kinesiogene choreoathetose |
| pt | Discinesia paroxística não-cinesigénica (PNKD) | |
| pl | Napadowa dyskineza niekinezygenna | Napadowa choreoatetoza niekinezygenna |
| cs | Paroxysmální non-kinezigenní dyskineze | Paroxystická non-kinezigenní choreoatetóza |
| uk | Пароксизмальна некінезигенна дискінезія | Пароксизмальний некінезигенний хореоатетоз |
| zh | 阵发性非运动诱发性运动障碍 | 阵发性非运动诱发性舞蹈症 |
| tr | Paroksismal kinezijenik olmayan diskinezi | Parokistik kinesigenik olmayan koreoatetoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118800 | E | validated | |
| OMIM | 611147 | BTNT | validated | |
| ICD-10 | G24.8 | NTBT | attributed | validated |
| MONDO | 0700088 | E | validated | |
| MeSH | C537181 | E | validated | |
| UMLS | C1869117 | E | validated | |
| GARD | 8722 | 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:1431Paroxysmal dyskinesia
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 |
|---|---|---|---|---|---|---|---|---|
| PNKD | Disease-causing germline mutation(s) in | Assessed | HGNC:9153 | ENSG00000127838 | 609023 | 2q35 | PNKD metallo-beta-lactamase domain containing | |
| 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] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Worldwide | Value and class | Validated | 19289562[PMID]_[EXPERT] |
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
15 annotations · validated 2018-02-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001332 | Dystonia | |
| HP:0007166 | Paroxysmal dyskinesia | |
| Frequent (79-30%) | ||
| HP:0002072 | Chorea | |
| HP:0001266 | Choreoathetosis | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0004305 | Involuntary movements | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0100660 | Dyskinesia | |
| HP:0002094 | Dyspnea | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001387 | Joint stiffness | |
| HP:0002063 | Rigidity | |
| HP:0025401 | Staring gaze | |
| HP:0000473 | Torticollis | |
| HP:0000211 | Trismus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22967746[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98810
- This record as JSON: /data/d/98810.json