Spinocerebellar ataxia

Spinocerebellar ataxia (SCA) is a term referring to a group of hereditary ataxias that are characterized by degenerative changes in the part of the brain related to the control of movement (cerebellum) and sometimes in the spinal cord.

Symptoms

The symptoms of spinocerebellar ataxia can vary widely depending on the specific type. However, most types of SCA share certain common symptoms. These include:

• Ataxia, or lack of muscle coordination, which may affect the patient's gait, balance, speech, or eye movements.
• Dysarthria, or difficulty speaking, which may manifest as slurred or slow speech.
• Dysphagia, or difficulty swallowing.
• Nystagmus, or involuntary eye movement.
• Neuropathy, or damage to the peripheral nerves, which can cause numbness or weakness in the limbs.

Causes

Spinocerebellar ataxias are caused by mutations in specific genes. These mutations are usually inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder to each of their children.

Diagnosis

Diagnosis of spinocerebellar ataxia is based on clinical observation of symptoms, a detailed patient history, and genetic testing to identify the specific mutation causing the disease.

Treatment

There is currently no cure for spinocerebellar ataxia. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, speech therapy, and medication to control symptoms such as tremors or muscle stiffness.

See also

• Ataxia
• Neurodegenerative disorders
• Genetic disorders

References

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