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Spinocerebellar ataxia is an inherited disease that causes the cerebellum to atrophy, resulting in a variety of health problems. There are over 30 recognized types of spinocerebellar ataxia, and patients can have the condition in a variety of degrees of severity. Symptoms include uncoordinated gait, spasticity, speech and vision problems, and difficulty coordinating hands. Genetic testing and counseling can help identify and manage the condition.
Spinocerebellar ataxia is an inherited disease that causes the cerebellum to atrophy, resulting in a variety of health problems. There are over 30 recognized types of spinocerebellar ataxia, and researchers periodically discover more types through the use of genetic testing. People with spinocerebellar ataxia can have the condition in a variety of degrees of severity, ranging from mild forms that allow someone to live a fairly normal life to severe forms that can cause early mortality.
The key feature of spinocerebellar ataxias is that they cause people to become ataxic, meaning their gait is uncoordinated. Patients may also experience spasticity due to spinal atrophy, along with speech and vision problems and difficulty coordinating hands. The onset of spinocerebellar ataxia can occur at various ages, with many people developing symptoms in adulthood.
Symptoms of this condition can resemble those of multiple sclerosis and other neurological diseases. For this reason, genetic testing may be recommended when patients have the classic symptoms, to rule out or confirm spinocerebellar ataxia. The test will reveal the chromosomal abnormality that led to the development of the condition. MRI of the brain can also reveal the classic wasting of the cerebellum associated with spinocerebellar ataxia.
This condition is caused by too many repetitions of a sequence within a gene and can be seen on a number of chromosomes. People can inherit the condition directly from a parent, or they can fall victim to a phenomenon known as anticipation, in which a parent has a slightly too long genetic sequence, but not long enough to cause spinocerebellar ataxia and the genome expands in the child. bringing out the condition.
Patients with spinocerebellar ataxia usually end up in a wheelchair as they progressively lose control of their body and may require personal assistance in the later stages. By identifying the condition early and getting the patient on physical therapy and excellent neurological care, a doctor can increase the patient’s chances of remaining independent.
Parents can opt for genetic testing and counseling before becoming pregnant to determine whether or not their children will be at risk of developing spinocerebellar ataxia and other inherited diseases. It is important to pair any testing with the advice of an experienced genetic counselor, to ensure parents fully understand what the results mean and how they should be applied to the parents’ situation.
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