Spinocerebellar ataxia is a group of genetically inherited movement disorders that are the result of degenerative alterations in the spinal cord and section of the brain responsible for an individual's movement control. Spinocerebellar ataxia is caused by genetic mutation where there is a greater number than normal of trinucleotide repeat expansions in the DNA. Symptoms seen in spinocerebellar ataxia include balance and coordination issues, uncoordinated walk, abnormal speech, vision issues, problems with processing information, challenges with learning, memory problems, involuntary eye movements, and poor hand-eye coordination.
When an individual is suspected of having spinocerebellar ataxia, genetic testing is performed to identify any genetic mutations associated with the group of disorders. Imaging studies such as MRI scans and CT scans may also be used in the diagnosis of spinocerebellar ataxia.
Patients may need to use one or more medications to treat the symptoms caused by their disorder. Zolpidem may be used in individuals who have trouble with sleep disorders. Varenicline may be used off-label in individuals who have spinocerebellar ataxia type 3 that has shown in several studies to reduce symptoms. Patients who experience symptoms isolated to spinocerebellar ataxia type 6 may be prescribed a medication called acetazolamide, which has been proven to help with ataxia-related symptoms.
Motor symptoms in all forms of spinocerebellar ataxia may be able to be alleviated with the use of medications called dopamine agonists and antagonists like haloperidol and L-dopa. Medications such as baclofen and benzodiazepines may be utilized to help with the suppression of certain neuronal circuits that are overactive and produce tremors. Other medications may be used as part of a patient's treatment that can help with muscle stiffness and muscle spasms as well.