Clinical Characteristics for Families

CA8-related cerebellar ataxia causes difficulties with balance and coordination (ataxia) in all individuals. This is due to the cerebellum (part of the brain responsible for coordinating movement and maintaining balance) being smaller or under-formed, and this can be visualised on an MRI (brain) scan. The condition is variable between individuals, with some having more significant challenges than others. Many individuals have slowing or slurring of their speech (dysarthria). Most individuals with the condition are delayed in reaching their early developmental milestones, particularly motor skills. Some may achieve walking, although with balance and coordination challenges, while others may never walk. Individuals with the condition are more likely to have learning problems or an intellectual disability, although normal intellect has also been reported.