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.
Spinocerebellar ataxia patients may benefit from undergoing physical therapy as a part of their treatment plan. A regimen that includes one hour of intensive physical therapy each day for four consecutive weeks with a special concentration on gait, strength, and balance can improve symptoms of cerebellar ataxia. Physical therapy methods that may be especially beneficial for individuals who have cerebellar ataxia include the use of the treadmill, neurophysiological assessment, weighting on the torso, and noninvasive brain stimulation atop of the cerebellum.
Weighting on the torso can be accomplished with the use of a balance disk or a balance ball. These methods have proven to be successful in helping a patient with motor learning and sensory-motor control. Physical therapy can help enhance the patient's ability to sit, stand, walk, and balance correctly. In individuals with symptoms primarily related to muscle weakness, physical therapy can be helpful even if it is only to strengthen and maintain the strength of the affected muscles.
Use Of Adaptive Devices
An individual affected by a form of spinocerebellar ataxia that causes problems with their ability to walk and perform daily functions may require the use of adaptive devices. A cane, walker, and crutches can help a patient who has gait ataxia maintain their ability to walk. For individuals who have a disease that has progressed beyond the point of being able to walk with assistive devices, a wheelchair can help with maintaining independent mobility. A patient who has symptoms related to fine motor skills as a complication of their cerebellar ataxia may need to use modified utensils to help them eat.
If an individual is experiencing issues with speaking and communicating due to their cerebellar ataxia, communication aids may be helpful. Other assistive devices are available to help patients with tasks such as writing, dressing, and other forms of self-care. Affected individuals may be advised to install and utilize technical aids around their homes, such as handlebars in the bedroom, bathroom, and other areas to prevent and reduce the risks associated with frequent falls.
Spinocerebellar ataxia patients may experience challenges with the voluntary automatic movements necessary for proper respiration, swallowing, chewing, using the voice, and writing. Occupational therapy focuses on helping an affected individual maintain an autonomous lifestyle despite the challenges they may face because of their condition. An occupational therapist examines a patient's skills to carry out their occupations, their level of autonomy, their living environment, their daily responsibilities, their habits, the accessibility of where they live, and the presence of physical assistance.
After analyzing all these aspects related to their patient, an occupational therapist works to find solutions to problems related to reduced function. An occupational therapist can suggest alterations in the home to make it safer and more accessible, research support services, find ways to save energy on daily activities, and recommend the use of specialized equipment.
A patient who is having trouble speaking due to their condition may benefit from utilizing speech therapy. A speech therapist can help an affected individual improve the movements needed for respiration, and help with the manipulation of the muscles required to breathe properly. Speech therapists can help a patient master the mechanism of swallowing, and help them control the speed at which they speak. A speech therapist can also assist an affected individual with improving and controlling the articulation of their language.
Speech therapists can aid patients by controlling the tone of their voice and producing appropriate hand gestures that accompany their speech. As a patient's spinocerebellar ataxia progresses, it is common for them to experience increasing difficulty with swallowing. They may have trouble swallowing at the esophageal, pharyngeal, or oral stage of the swallowing process. Speech therapy can help a patient adapt and adjust as these problems arise.