Cerebellar Ataxia, Dominant Pure

Overview

Type of disease: Rare conditions

Dominant Pure Cerebellar Ataxia is an acquired disorder in which damage, degeneration, or loss of nerve cells in the cerebellum (part of the brain that controls movement), results in balance problems and difficulty coordinating complex movements (ataxia). This condtion is inherited and is autosomal dominant, meaning that it is passed from parents to their children and that if one of the parents has the disorder, there is a 50% chance the child will have it too. Dominant forms of cerebellar ataxia are generally less severe than recessive ones. Symptoms may include: developmental delay, altered consciousness, and neurological or developmental regression. This condition is rare, affecting 0.3 to 2 persons in every 100,000, and onset is typically between the ages of 30 and 50. MRI scans, brain scans, and genetic testing can diagnose dominant pure cerebellar ataxia, and treatment may include physiotherapy and anticonvulsants.

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