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SCA32 gene related symptoms and diseases

All the information presented here about the SCA32 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SCA32 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Cognitive impairment Very Common - Between 80% and 100% cases
Cerebellar atrophy Very Common - Between 80% and 100% cases
Infertility Very Common - Between 80% and 100% cases
Progressive cerebellar ataxia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SCA32 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Azoospermia
  • Male infertility
  • Testicular atrophy

Rare diseases associated to SCA32 gene

Here you will find a list of rare diseases related to the SCA32. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA TYPE 32

Alternate names

SPINOCEREBELLAR ATAXIA TYPE 32 Is also known as cerebellar ataxia with azoospermia and intellectual disability, sca32

Description

Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 32

  • Ataxia
  • Cognitive impairment
  • Cerebellar atrophy
  • Infertility
  • Progressive cerebellar ataxia


More info about SPINOCEREBELLAR ATAXIA TYPE 32

SOURCES: OMIM ORPHANET



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