X-linked spinocerebellar ataxia type 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ATAXIA-DEMENTIA SYNDROME, X-LINKED SCAX4 X-linked ataxia-dementia syndrome |
| Number of Symptoms | 8 |
| OrphanetNr: | 85292 |
| OMIM Id: |
301840
|
| ICD-10: |
G11.1 |
| UMLs: |
C1844933 |
| MeSH: |
C537316 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic neurodegenerative disease
-Rare genetic disease Rare dementia -Rare neurologic disease X-linked cerebellar ataxia -Rare genetic disease -Rare neurologic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
|
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(HPO:0000726) | Dementia | 131 / 7739 | ||||
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(HPO:0007256) | Abnormal pyramidal signs | 116 / 7739 | ||||
|
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 | ||||
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(HPO:0002062) | Morphological abnormality of the pyramidal tract | 24 / 7739 | ||||
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(OMIM) | Delayed walking | 13 / 7739 | ||||
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(OMIM) | Adult-onset dementia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Farlow et al. (1987) described a large kindred in which males of 3 generations connected through females showed an apparently X-linked syndrome comprising ataxia, pyramidal tract signs and adult-onset dementia. Initial signs, manifested by 2 to 3 years ... |