Spinocerebellar ataxia type-6

Spinocerebellar ataxia type-6 (SCA6) is a genetic disorder characterized by progressive problems with movement. It is a subtype of spinocerebellar ataxia (SCA), a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.

Genetics[edit | edit source]

SCA6 is caused by mutations in the CACNA1A gene, which provides instructions for making a protein that forms a channel across cell membranes. This channel transports positively charged calcium atoms (calcium ions) into cells and plays a crucial role in the ability of nerve cells (neurons) to send and receive signals.

Symptoms[edit | edit source]

The symptoms of SCA6 can vary widely between individuals, even among members of the same family. The most common symptoms include dysarthria (difficulty articulating words), nystagmus (involuntary eye movement), and dysphagia (difficulty swallowing). As the condition progresses, individuals may develop cerebellar ataxia (lack of muscle coordination that can make speech and movement difficult).

Diagnosis[edit | edit source]

Diagnosis of SCA6 is based on clinical history, neurological examination, and genetic testing. Magnetic resonance imaging (MRI) may show atrophy of the cerebellum, but this is not always present in the early stages of the disease.

Treatment[edit | edit source]

There is currently no cure for SCA6. Treatment is supportive and based on the symptoms in each individual. Physical therapy may help to improve mobility and maintain strength, while speech therapy may assist with speech and swallowing difficulties.

Prognosis[edit | edit source]

The prognosis for individuals with SCA6 varies. Some people may maintain the ability to walk and carry out daily activities for many years, while others may become wheelchair-bound. The disease does not typically affect life expectancy.