Spinocerebellar ataxia type-13

Spinocerebellar ataxia type 13 (SCA13) is a rare, genetic condition that affects the cerebellum and causes progressive problems with movement. It is one of several types of spinocerebellar ataxia (SCA), which are all characterized by degenerative changes in the part of the brain related to the control of movement.

Symptoms

The symptoms of SCA13 can vary widely, even among members of the same family. They typically include poor coordination of movements (ataxia), difficulty with balance, and problems with speech (dysarthria). Some people may also have mild intellectual disability or learning problems.

Causes

SCA13 is caused by mutations in the KCNC3 gene. This gene provides instructions for making a protein that is involved in sending signals in nerve cells, particularly in the cerebellum. Mutations in the KCNC3 gene disrupt these signals, leading to the symptoms of SCA13.

Diagnosis

Diagnosis of SCA13 is based on the presence of characteristic neurological symptoms, a family history of the disease, and genetic testing. Genetic testing can confirm a diagnosis by identifying a mutation in the KCNC3 gene.

Treatment

There is currently no cure for SCA13. Treatment is focused on managing symptoms and may include physical therapy, speech therapy, and medications to control spasticity.

Prognosis

The prognosis for people with SCA13 varies. Some people may have mild symptoms and a normal lifespan, while others may have severe symptoms and a shortened lifespan.

See also

• Spinocerebellar ataxia
• Ataxia
• KCNC3

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