Autosomal dominant cervical dystonia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Autosomal dominant spasmodic torticollis |
| Number of Symptoms | 10 |
| OrphanetNr: | 93962 |
| OMIM Id: |
602124
614860 615034 |
| ICD-10: |
G24.3 |
| UMLs: |
C0393602 |
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
230322000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
autosomal dominant [Omim] |
| Age of onset: |
Adulthood [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Focal, segmental or multifocal dystonia
-Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000473) | Torticollis | 42 / 7739 | ||||
|
|
(HPO:0000643) | Blepharospasm | 20 / 7739 | ||||
|
|
(HPO:0001618) | Dysphonia | 28 / 7739 | ||||
|
|
(HPO:0002356) | Writer's cramp | 16 / 7739 | ||||
|
|
(HPO:0002312) | Clumsiness | 28 / 7739 | ||||
|
|
(HPO:0002378) | Hand tremor | 9 / 7739 | ||||
|
|
(HPO:0001304) | Torsion dystonia | 13 / 7739 | ||||
|
|
(HPO:0012048) | Oromandibular dystonia | 7 / 7739 | ||||
|
|
(HPO:0003712) | Skeletal muscle hypertrophy | 42 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|