Learn About Infantile-Onset Spinocerebellar Ataxia (IOSCA)
View Main Condition: Movement Disorders
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.
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.
More than 20 individuals with IOSCA have been identified in Finland. A few individuals with similar symptoms have been reported elsewhere in Europe.
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.
Oneonta Family Practice (Fox)
. Dr. Friedell is rated as an Advanced provider by MediFind in the treatment of Infantile-Onset Spinocerebellar Ataxia (IOSCA). His top areas of expertise are Dementia, Epilepsy, Viral Gastroenteritis, and Memory Loss.
Ballad Health Medical Associates Neurology
"Shaena Blevins, MD, is a board-certified neurologist who practiced neurology in Gainesville, Georgia, for more than a decade. She loves her patients and, ""the long-term relationships and continuity of care that being a neurologist allows,"" she says. Dr. Blevins feels it is key to listen to her patients and their caregivers. She also believes, ""it is of utmost importance for my patients to understand their disease and treatment options."" Dr. Blevins and her husband are happy to be returning 'home' to the Appalachian Highlands to raise their children around family. Procedures". Dr. Blevins is rated as an Experienced provider by MediFind in the treatment of Infantile-Onset Spinocerebellar Ataxia (IOSCA). Her top areas of expertise are Essential Tremor, Cerebellar Degeneration, Transverse Myelitis, and Memory Loss.
BIDMC Department Of Neurology
Patricia Greenstein is a Neurologist in Boston, Massachusetts. Dr. Greenstein is rated as a Distinguished provider by MediFind in the treatment of Infantile-Onset Spinocerebellar Ataxia (IOSCA). Her top areas of expertise are Spinocerebellar Ataxia, Cervical Myelopathy, Spastic Ataxia Charlevoix-Saguenay Type, and Spinocerebellar Ataxia Type 28.
Published Date: March 01, 2010
Published By: National Institutes of Health