SCA20 gene related symptoms and diseases
All the information presented here about the SCA20 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SCA20 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ataxia | Very Common - Between 80% and 100% cases |
| Dysphonia | Very Common - Between 80% and 100% cases |
| Tremor by anatomical site | Very Common - Between 80% and 100% cases |
| Hypermetric saccades | Very Common - Between 80% and 100% cases |
| Upper limb postural tremor | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SCA20 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Downbeat nystagmus
- Laryngeal dystonia
- Kinetic tremor
- Gaze-evoked nystagmus
- Intention tremor
- Hyperreflexia
- Bradykinesia
- Cerebral calcification
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SCA20 gene
Here you will find a list of rare diseases related to the SCA20. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SPINOCEREBELLAR ATAXIA TYPE 20
Alternate names
SPINOCEREBELLAR ATAXIA TYPE 20 Is also known as sca20
Description
Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar dysarthria as the initial typical manifestation.
Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 20
- Ataxia
- Hyperreflexia
- Dysarthria
- Cerebellar atrophy
- Gait ataxia
More info about SPINOCEREBELLAR ATAXIA TYPE 20
SOURCES: ORPHANET
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