ANO10-related spinocerebellar ataxia, also known as SCAR10 or ARCA3, is a condition that affects a person’s ability to coordinate their movements, a problem known as ataxia.
In the condition, changes damage the cerebellum, the part of the brain that controls balance and movement, leading to the symptoms of the disorder. Symptoms usually start between the ages of 20 and 40, beginning with loss of balance and difficulty walking. Although symptoms worsen over time, most people can still walk on their own for up to 25 years after the symptoms first appear. Other common symptoms include trouble speaking (dysarthria), abnormal eye movements, and changes in the brain that can be seen on scans. Some people might also experience seizures or cognitive delays. There is no cure for this condition, but physical therapy can help maintain strength and mobility. Speech therapy can assist with speech and eating difficulties, and occupational therapy can provide strategies for daily activities. Some people may also see improvement with coenzyme Q10 treatment.
This group of conditions is caused by pathogenic (disease-causing) variants in the ANO10 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
Written August 2024
