Spinocerebellar ataxia type 25
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SCA25 |
| Number of Symptoms | 25 |
| OrphanetNr: | 101111 |
| OMIM Id: |
608703
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| ICD-10: |
G11 |
| UMLs: |
C1837518 |
| MeSH: |
C537202 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 10 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant cerebellar ataxia type 1
-Rare eye disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000012) | Urinary urgency | 35 / 7739 | ||||
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(HPO:0011468) | Facial tics | 1 / 7739 | ||||
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(HPO:0000317) | Facial myokymia | 5 / 7739 | ||||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0007663) | Reduced visual acuity | 100 / 7739 | ||||
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(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
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(HPO:0000505) | Visual impairment | 297 / 7739 | ||||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0002522) | Areflexia of lower limbs | 16 / 7739 | ||||
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(HPO:0007328) | Impaired pain sensation | 10 / 7739 | ||||
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(HPO:0000763) | Sensory neuropathy | 78 / 7739 | ||||
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(HPO:0006944) | Abolished vibration sense | 2 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0003380) | Decreased number of peripheral myelinated nerve fibers | 30 / 7739 | ||||
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(HPO:0002650) | Scoliosis | 705 / 7739 | ||||
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(HPO:0001761) | Pes cavus | 225 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Sural nerve biopsy shows loss of myelinated fibers | 2 / 7739 | ||||
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(OMIM) | EMG shows sensory involvement | 1 / 7739 | ||||
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(OMIM) | Decreased touch sensation | 1 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(OMIM) | Gastric pain | 1 / 7739 | ||||
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(OMIM) | Upper limb involvement | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Stevanin et al. (2004) reported a large family from Southeastern France with an autosomal dominant form of spinocerebellar ataxia with sensory involvement. Age at onset ranged from 17 months to 39 years, although most of those affected had ... |