Spinocerebellar ataxia type 30
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SCA30 |
| Number of Symptoms | 10 |
| OrphanetNr: | 211017 |
| OMIM Id: |
613371
|
| ICD-10: |
G11 |
| UMLs: |
C2936793 |
| MeSH: |
C537206 |
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 6 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult Elderly [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal dominant cerebellar ataxia type 3
-Rare eye disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000640) | Gaze-evoked nystagmus | rare [HPO:skoehler] | 27 / 7739 | |||
|
|
(HPO:0007338) | Hypermetric saccades | 5 / 7739 | ||||
|
|
(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
|
|
(HPO:0001251) | Ataxia | 413 / 7739 | ||||
|
|
(OMIM) | Hyperreflexia, lower limbs, mild | 1 / 7739 | ||||
|
|
(OMIM) | Ataxia, gait and appendicular | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0003677) | Slow progression | 134 / 7739 | ||||
|
|
(HPO:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
|
|
(HPO:0003587) | Insidious onset | 11 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Storey et al. (2009) reported an Australian family of Anglo-Celtic origin in which 6 individuals had a relatively pure, slowly evolving ataxia inherited in an autosomal dominant pattern. The mean reported age at onset was 52 years (range ... |