Dopa-responsive dystonia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hereditary progressive dystonia with diurnal fluctuation |
| Number of Symptoms | 3 |
| OrphanetNr: | 255 |
| OMIM Id: |
|
| ICD-10: |
G24.8 |
| UMLs: |
C1851920 |
| MeSH: |
C538007 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 0.3 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Neurometabolic disease
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
|
|
(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
|
|
(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|