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Spinocerebellar ataxia type 32
Disease definition
An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.
ORPHA:276183
Classification level: DisorderSummary
Epidemiology
Spinocerebellar ataxia type 32 (SCA32) has been reported in one Chinese family to date.
Clinical description
Disease onset occurs in adulthood with females more affected than males. Manifestations include ataxia, cognitive impairment and, in males, azoospermia. Cerebellar atrophy is visible with magnetic resonance imaging.
Etiology
The causal gene of SCA32 has not yet been identified but it is located to chromosome 7q32-q33.
Diagnostic methods
Diagnosis is based on the characteristic clinical findings and family history of the disease.
Differential diagnosis
Differential diagnosis includes other types of ADCA.
Genetic counseling
SCA32 is inherited in an autosomal dominant manner and genetic counseling is possible. Genetic counseling should be proposed to individuals having the disease-causing mutation informing them that there is 50% risk of passing the mutation to offspring.
Management and treatment
There is no cure for SCA32 and treatment is supportive. Physical therapy, as well as the use of canes and walkers, should be offered in order to maximize strength and maintain activity. Wheelchairs are eventually necessary. Speech therapy and communication devices may be useful to those with dysarthria. Dysphagia should be monitored to decrease the risk of aspiration pneumonia. Annual neurological examinations are recommended to monitor disease progression.
Prognosis
Precise prognosis is unknown due to limited number of patients reported. Mean age when aid walking needed is about 34 years.
A summary on this disease is available in Español (2020) Français (2020) Italiano (2020) Nederlands (2020)
Detailed information
General public
- Article for general public
- English (2012) - Socialstyrelsen
- Svenska (2021) - Socialstyrelsen
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews


Additional information