Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia).

Protein ATXN1 PDB

Signs and Symptoms

The first signs of SCA1 are typically problems with coordination and balance (ataxia). As the condition progresses, individuals may develop other symptoms such as slow, uncontrolled eye movements, speech difficulties (dysarthria), and difficulty swallowing (dysphagia).

Causes

SCA1 is caused by mutations in the ATXN1 gene. This gene provides instructions for making a protein that is involved in restricting the activity (transcription) of certain genes. The ATXN1 gene mutation that causes SCA1 involves a DNA segment known as a CAG trinucleotide repeat.

Diagnosis

Diagnosis of SCA1 is based on clinical history, physical examination, and genetic testing. Genetic testing can confirm the diagnosis by identifying the abnormal gene.

Treatment

There is currently no cure for SCA1. Treatment is supportive and based on the signs and symptoms present in each person. This may include physical therapy, occupational therapy, and speech therapy.

Prognosis

The prognosis for individuals with SCA1 varies. Some people may maintain the ability to walk and perform daily activities for many years, while others may become severely disabled.

See Also

• Spinocerebellar ataxia
• ATXN1
• Genetic testing

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