Primary dystonia, DYT13 type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DYT13 Primary torsion dystonia with predominant craniocervical or upper limb onset Primary dystonia with mixed phenotype |
| Number of Symptoms | 11 |
| OrphanetNr: | 98807 |
| OMIM Id: |
607671
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| ICD-10: |
G24.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Focal, segmental or multifocal dystonia
-Rare neurologic disease |
Symptom Information:
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(HPO:0000473) | Torticollis | 42 / 7739 | ||||
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(HPO:0000643) | Blepharospasm | 20 / 7739 | ||||
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(HPO:0001304) | Torsion dystonia | 13 / 7739 | ||||
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(HPO:0012048) | Oromandibular dystonia | 7 / 7739 | ||||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0002451) | Limb dystonia | 16 / 7739 | ||||
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(HPO:0002356) | Writer's cramp | 16 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Rapid, jerky movements | 1 / 7739 | ||||
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(OMIM) | Dystonic posturing | 4 / 7739 | ||||
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(OMIM) | Upper limb dystonia | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Bentivoglio et al. (1997) reported a large non-Jewish Italian family with autosomal dominant idiopathic torsion dystonia spanning 3 generations. Eight members had definite torsion dystonia characterized by average onset at 15 years of age, symptoms beginning in the ... |