An overview of Spinocerebellar Ataxia

by Advancells Stem Cell Therapy Regenerative Medicine in India

Spinocerebellar ataxia is a neurodegenerative disease that refers to a group of genetic ataxias. It is a progressive condition in which the patient experiences difficulty in walking, balancing and swallowing and it can also lead to vision loss in some cases. There are multiple forms of spine cerebellar ataxia that are caused due to different types of genetic mutations. This article summarizes the causes, prognosis and various types of spinocerebellar ataxias.

When people talk about spinocerebellar ataxia (SCA), they're addressing a group of neurodegenerative disorders that cause fumbling. There are around 35 forms of spinal cerebellar ataxia, each of which is triggered by a different genetic mutation. New forms are also identified regularly.

Given its various forms, SCA is a very uncommon condition. Despite this, genetic ataxia is one of the primary triggers. A novel SCA mutation can be detected about 20% of the time in individuals with no familial history of ataxia who develop it for no apparent cause.

Causes of SCA

SCA is caused due to various genetic mutations. It is commonly inherited in an autosomal dominant manner, which means if either of the parents has the disorder, the child has a 50% chance of inheriting it as well.

The disorder is called spinocerebellar ataxia because it affects the cerebellum and other parts of the brain. In SCA types 1, 2, and 7, the brainstem can also fade away (atrophy). When a neurologist does a physical exam, the regions of atrophy usually govern eye movements, resulting in aberrant findings.

Treatment for SCA

Spinocerebellar ataxia has no known treatment. The best treatment choices for SCA differ depending on the type of SCA and the symptoms and signs that each patient has. Ataxia is the most common sign of SCA. Physical therapy can help in strengthening muscles, while specific aids including a wheelchair, cane, walker and crutches may help with mobility and other everyday activities. Several people with SCA experience other symptoms in addition to ataxia, for example, muscle spasms, sleep disturbances, tremors, and stiffness; for some of these symptoms, medicines or other therapies may be recommended.

Despite the fact that spinocerebellar ataxia is uncommon, neurologists and patients should evaluate it if there is a previous history of clumsiness. A diagnosis of SCA can have far-reaching consequences not only for the person who is diagnosed but also for their entire family.