DYSTONIA WITH CEREBELLAR ATROPHY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DYTCA |
| Number of Symptoms | 15 |
| OrphanetNr: | |
| OMIM Id: |
611694
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| ICD-10: |
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| 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 recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000473) | Torticollis | 42 / 7739 | ||||
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(HPO:0007979) | Gaze-evoked horizontal nystagmus | 5 / 7739 | ||||
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(HPO:0004373) | Focal dystonia | 9 / 7739 | ||||
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(HPO:0001618) | Dysphonia | 28 / 7739 | ||||
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(HPO:0002073) | Progressive cerebellar ataxia | 27 / 7739 | ||||
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(HPO:0001348) | Brisk reflexes | 15 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0012179) | Craniofacial dystonia | 4 / 7739 | ||||
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(OMIM) | Dystonia may become generalized | 1 / 7739 | ||||
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(OMIM) | Facial dystonia | 6 / 7739 | ||||
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(OMIM) | Cerebellar ataxia, slowly progressive | 2 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Spasmodic dysphonia due to laryngeal spasm | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Le Ber et al. (2006) described 12 male patients from 8 unrelated families with dystonia and cerebellar atrophy. Mean age at onset was 27 years (range 9 to 42). Eight patients had a similar phenotype with spasmodic dysphonia ... |