Learn About Infantile-Onset Spinocerebellar Ataxia (IOSCA)

What is the definition of Infantile-Onset Spinocerebellar Ataxia (IOSCA)?

Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early childhood, however, they begin experiencing difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); involuntary writhing movements of the limbs (athetosis); and decreased reflexes. By their teenage years affected individuals require wheelchair assistance.

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What are the causes of Infantile-Onset Spinocerebellar Ataxia (IOSCA)?

Mutations in the TWNK gene cause IOSCA. The TWNK gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use.

How prevalent is Infantile-Onset Spinocerebellar Ataxia (IOSCA)?

More than 20 individuals with IOSCA have been identified in Finland. A few individuals with similar symptoms have been reported elsewhere in Europe.

Is Infantile-Onset Spinocerebellar Ataxia (IOSCA) an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Who are the sources who wrote this article ?

Published Date: March 01, 2010Published By: National Institutes of Health

What are the Latest Advances for Infantile-Onset Spinocerebellar Ataxia (IOSCA)?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.