Autosomal dominant cerebellar ataxia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ADCA Autosomal dominant spinocerebellar ataxia |
| Number of Symptoms | 17 |
| OrphanetNr: | 99 |
| OMIM Id: |
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| ICD-10: |
G11.8 |
| 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: | 3 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Late-onset ataxia with dementia
-Rare genetic disease -Rare neurologic disease Rare hereditary ataxia -Rare genetic disease -Rare neurologic disease Rare neurodegenerative disease -Rare neurologic disease Spinocerebellar ataxia with oculomotor anomaly -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000597) | Ophthalmoparesis | Occasional [Orphanet] | 71 / 7739 | |||
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(HPO:0000615) | Abnormality of the pupil | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0007021) | Pain insensitivity | Frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0000708) | Behavioral abnormality | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Very frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0005978) | Type II diabetes mellitus | Occasional [Orphanet] | 68 / 7739 | |||
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(HPO:0002097) | Emphysema | Frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0003202) | Skeletal muscle atrophy | Occasional [Orphanet] | 281 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Very frequent [Orphanet] | 137 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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