What is spinocerebellar ataxia?

spinocerebellar ataxia is inherited diseases that causes atrophy of the cerebellum, leading to a number of health problems. There are more than 30 recognized species of spinocerebellar ataxia and scientists regularly reveal other types using genetic testing. People with spinocerebellar ataxia may have this condition at different degrees of severity, from mild forms that allow someone to live a relatively normal life of serious forms that can cause timely mortality. Patients can also experience spasticity due to spine atrophy, along with speech and vision problems and difficulties to coordinate hands. The beginning of spinocerebellar ataxia may occur in different ages, with many people developing symptoms in adulthood. For this reason, genetic testing is recommended when patients with classical symptoms eliminate or confirm spinocerebellar ataxia. Testing reveals chromosomal abnormality that has led to the development of the condition. MRI of the brain can also reveal classic wasting by a moser associated with spinocerebelarataxia.

This condition is caused by too many repetitions of the sequence in the gene and can be observed on a number of chromosomes. People can inherit a condition directly from the parent, or they can be the victims of a phenomenon known as expectations in which one parent has a genetic sequence that is a bit too long, but not long enough to cause spinocerebellar ataxia, and the genome is expanding.

Patients with spinocerebellar ataxia usually end in a wheelchair, as the loss gradually control over their bodies and may require personal assistance in later stages. Early by identifying the condition and bringing the patient to physical therapy and excellent neurological care, the physician can increase the patient's chances to the remaining independent.

Parents may decide to make genetic testing and advice before pregnancy to determine whether their children will be at risk of developing spinocerebellar ataxia and othersinherited diseases. It is important to pair any testing with the Council of an experienced genetic advisor to ensure that parents fully understand what the results mean and how they should be applied to the parents' situation.