ORPHA:238606
Primary orthostatic tremor
Synonyms: POT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare tremor disorder characterized by an isolated high frequency (>12 Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary orthostatic tremor | POT |
| fr | Tremblement orthostatique primaire | POT · TOP |
| de | Tremor, orthostatischer primärer | = en |
| es | Temblor ortostático primario | POT · TOP |
| it | Tremore ortostatico primitivo | = en |
| nl | Primaire orthostatische tremor | = en |
| pt | Tremor ortostático primário | = en |
| pl | Pierwotne drżenie ortostatyczne | = en |
| cs | Primární ortostatický tremor | = en |
| uk | Первинний ортостатичний тремор | = en |
| zh | 原发性直立性震颤 | = en |
| tr | Primer ortostatik tremor | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G25.2 | NTBT | attributed | validated |
| ICD-11 | 8A04.1 | NTBT | index | validated |
| MONDO | 0016546 | E | validated | |
| MeSH | C536418 | E | validated | |
| UMLS | C0878578 | E | validated | |
| GARD | 8563 | 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:306712Rare tremor disorder
rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 390 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
7 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:0003457 | EMG abnormality | |
| HP:0003394 | Muscle spasm | |
| HP:0001337 | Tremor | |
| Frequent (79-30%) | ||
| HP:0003326 | Myalgia | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238606
- This record as JSON: /data/d/238606.json