Primary orthostatic tremor
General Information (adopted from Orphanet):
Synonyms, Signs:
|
POT
|
Number of Symptoms
|
7
|
OrphanetNr:
|
238606
|
OMIM Id:
|
|
ICD-10:
|
G25.2
|
UMLs:
|
C0878578
|
MeSH:
|
C536418
|
MedDRA:
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
Prevalence:
|
391
cases
[Orphanet]
|
Inheritance:
|
Not applicable
[Orphanet]
|
Age of onset:
|
Adult
[Orphanet]
|
Disease classification (adopted from Orphanet):
Parent Diseases:
|
Rare tremor disorder
-Rare neurologic disease
|
|
|
|
|
|
|
|
|
1
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
2
|
(HPO:0001337)
|
Tremor |
Very frequent [Orphanet]
|
|
|
|
200 / 7739
|
3
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
4
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
5
|
(HPO:0003394)
|
Muscle cramps |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
6
|
(HPO:0003326)
|
Myalgia |
Frequent [Orphanet]
|
|
|
|
143 / 7739
|
7
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |