Spinocerebellar Ataxia

Spinocerebellar ataxia (SCA) is a group of autosomal dominant, progressive neurodegenerative ataxias caused by cerebellar, brainstem, and spinal-cord degeneration, with many genetic subtypes (most are CAG/polyglutamine expansions). Clinical: progressive gait/limb ataxia, dysarthria, nystagmus, and varying extracerebellar features (ophthalmoplegia, parkinsonism, neuropathy). Onset varies by subtype. There is no cure; treatment is supportive, physical/occupational therapy, and genetic counseling.

Common Symptoms

Progressive gait/limb ataxia; dysarthria; nystagmus; autosomal-dominant family history; variable extracerebellar features

Causes and Pathogenesis

Genetic mutations (often CAG expansions) cause progressive degeneration of cerebellum, brainstem, and spinal pathways.

Treatment

Supportive; physical/occupational/speech therapy; treat extracerebellar symptoms; genetic counseling

Preventive Measures

Genetic counseling; family screening; supportive rehab.

Department to Visit

It is recommended to visit the Neurology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.