SCA30 gene related symptoms and diseases
All the information presented here about the SCA30 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SCA30 gene
Symptoms // Phenotype | % Cases |
---|---|
Ataxia | Very Common - Between 80% and 100% cases |
Nystagmus | Very Common - Between 80% and 100% cases |
Peripheral neuropathy | Very Common - Between 80% and 100% cases |
Hyperreflexia | Very Common - Between 80% and 100% cases |
Dysarthria | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SCA30 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cerebellar atrophy
- Gait ataxia
- Limb ataxia
- Gaze-evoked nystagmus
- Lower limb hyperreflexia
- Cerebellar vermis atrophy
- Hypermetric saccades
Rare diseases associated to SCA30 gene
Here you will find a list of rare diseases related to the SCA30. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA TYPE 30
Alternate names
SPINOCEREBELLAR ATAXIA TYPE 30 Is also known as sca30
Description
Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by a slowly progressive and relatively pure ataxia.
Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 30
- Ataxia
- Nystagmus
- Peripheral neuropathy
- Hyperreflexia
- Dysarthria
More info about SPINOCEREBELLAR ATAXIA TYPE 30
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