What is Spinocerebellar Ataxia?
Spinocerebellar ataxia is a degenerative, progressive, genetic disorder in which the spinal cord and cerebellum degenerate over a years-long period of time. This is a genetic disorder that can be inherited by a dominant gene. This means that someone with a parent who has this disorder has a 50% chance of also inheriting it. In fact, some people don’t even know that they have the disorder until they begin having problems with their coordination and have a doctor look at their symptoms and diagnose them.
Most people with spinocerebellar ataxia live between 10 and 20 years after they first start noticing symptoms, and symptoms most often present themselves in a person’s early adult years, adolescence, or childhood.
The exact cause of this disorder isn’t completely understood, but basically, the genes mutate, which is what causes the ataxia. There’s a string of genes on the DNA that’s supposed to repeat between 4 and 39 times. But people with spinocerebellar ataxia have these genes repeated anywhere between 40 and 80 times, and the more often they’re repeated, the earlier symptoms present themselves.
This disorder is somewhat heritable as a dominant gene, meaning that people who have at least one parent with the disorder will have it, too. But there are people who have the disorder whose parents don’t have it. Most often, this happens when one parent has the gene sequence repeated in the 35 to 39 range, which makes it more likely that they’ll pass it along to their children but not necessarily have the symptoms themselves.
Symptoms of Spinocerebellar Ataxia
There are several types of spinocerebellar ataxia, and they’re all somewhat similar, so it can be difficult to distinguish the difference. There are, however, several symptoms that people with this type of disorder often experience, and the age of onset can vary depending on the type.
One of the most common symptoms is difficulties with coordination and balance, which is the meaning of the word ataxia. More specifically, uncoordinated walk and poor hand eye coordination is likely to be present in people with spinocerebellar ataxia. Some other common signs include abnormal speech and vision problems. Involuntary, quick eye movements occur in some people because the muscles weaken, resulting in an inability to control the movements. Some people will also have difficulties learning, remembering, and processing information. Difficulties with swallowing and eating are also common.
As the disease progresses, it’s more likely that a person will begin to notice muscle atrophy, and they might even develop sensory neuropathy, including feeling of tingling, pain, or numbness in the legs and arms. In cases where the disease has progressed significantly, some people will also experience tremors, involuntary jerking, and rigidity, but these symptoms are fairly uncommon.
Treatment for Spinocerebellar Ataxia
Unfortunately, there isn’t a cure for spinocerebellar ataxia, but there are some ways to treat the symptoms. That’s why a variety of treatments might be used that will be based on the symptoms. The general prognosis on life expectancy, however, cannot be changed with treatments, which will only make the symptoms more bearable to live with.
Because ataxia is one of the most common symptoms, physical therapy is often used to strengthen muscles, which will also help with coordination. The exercises will likely focus on ways to strengthen the muscles in the legs and arms. Additionally, some people might need walking devices, such as canes and walkers, to help with mobility. Some people might even need to switch to a wheelchair to get around if their symptoms have progressed past the point where a walker or cane is sufficient.
Additionally, there are people who have a wide range of other types of symptoms. For instance, some people might need medications and other types of therapy for muscle stiffness, tremors, muscle spasms, and sleep disorders. For example, a doctor might prescribe a muscle relaxant to someone who is having severe muscle spasms, stiffness, or tremors. This type of medication can be given orally or as an injection.
While behavioral therapy can’t help lessen the symptoms, it can, however, help the person with the disorder learn better ways of coping with the disability. For instance, as the disease progresses, someone with the early symptoms of spinocerebellar ataxia might modify some of their activities to accommodate their decreased ability to control their motor movements. As the symptoms progress, they might need help from other people to do daily self-care tasks, such as brushing their teeth.
