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  3. SCA30

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.

Table of contents:

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

SOURCES: OMIM ORPHANET



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