Infantile-Onset Spinocerebellar Ataxia (IOSCA)Symptoms, Doctors, Treatments, Advances & More
Learn About Infantile-Onset Spinocerebellar Ataxia (IOSCA)
View Main Condition: Movement Disorders
Infantile-onset spinocerebellar ataxia (IOSCA) is a disorder that affects the nervous system and worsens over time. Babies with IOSCA develop normally during the first few months of life. Later, during infancy or childhood, signs and symptoms develop. Affected children often do not grow and gain weight as expected (faltering weight), and they may experience a gradual loss of existing skills (developmental regression). Individuals with IOSCA often develop movement problems, abnornal nerve function (neuropathy), vision problems, and additional signs and symptoms.
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the TWNK gene cause IOSCA. The TWNK gene provides instructions for making a protein called Twinkle. This protein is found in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use.
IOSCA was first described in Finland, but it has since been found in individuals worldwide. IOSCA is a very rare condition, although its exact prevalence is unknown.
IOSCA is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a pathogenic variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Avera Medical Group Internal Medicine — Aberdeen
Arlin Myrmoe is a primary care provider, practicing in Internal Medicine in Aberdeen, South Dakota. Dr. Myrmoe is rated as an Experienced provider by MediFind in the treatment of Infantile-Onset Spinocerebellar Ataxia (IOSCA). He is also highly rated in 44 other conditions, according to our data. His clinical expertise encompasses Renovascular Hypertension, Maturity Onset Diabetes of the Young, Type 2 Diabetes (T2D), and Hypertension. Dr. Myrmoe is board certified in American Board Of Internal Medicine. Dr. Myrmoe is currently accepting new patients.
Neuroscience Center – Specialty Clinics
Karen Blindauer is a Neurologist practicing medicine in Milwaukee, Wisconsin. Dr. Blindauer is rated as an Advanced provider by MediFind in the treatment of Infantile-Onset Spinocerebellar Ataxia (IOSCA). She is also highly rated in 35 other conditions, according to our data. Her clinical expertise encompasses Movement Disorders, Parkinson's Disease, Essential Tremor, and Huntington Disease. Dr. Blindauer is board certified in Neurology. Dr. Blindauer is currently accepting new patients.
A.O. Fox Nursing Home
Benjamin Friedell is a primary care provider, practicing in Internal Medicine in Oneonta, New York. Dr. Friedell is rated as an Advanced provider by MediFind in the treatment of Infantile-Onset Spinocerebellar Ataxia (IOSCA). He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Dementia, Epilepsy, Viral Gastroenteritis, and Memory Loss.
Published Date: October 02, 2026
Published By: National Institutes of Health