1. Mendelian
  2. Rare Diseases
  3. SPINOCEREBELLAR ATAXIA 32; SCA32

Spinocerebellar Ataxia Type 32

Table of contents:

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.

Genes related to Spinocerebellar Ataxia Type 32

  • SCA32

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Spinocerebellar Ataxia Type 32

  • Ataxia
  • Cognitive impairment
  • Cerebellar atrophy
  • Infertility
  • Progressive cerebellar ataxia
  • Azoospermia
  • Male infertility
  • Testicular atrophy

Incidence and onset information

— Based on the latest data available there are 1 families with SPINOCEREBELLAR ATAXIA TYPE 32 in Europe.
— No data available about the known clinical features onset.

Alternative names

Spinocerebellar Ataxia Type 32 Is also known as cerebellar ataxia with azoospermia and intellectual disability, sca32.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEPHRONOPHTHISIS 1; NPHP1 TIETZ ALBINISM-DEAFNESS SYNDROME; TADS FRUCTOSURIA, ESSENTIAL MYOSCLEROSIS, AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE FETAL AKINESIA DEFORMATION SEQUENCE; FADS RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS