Bruns ataxia

Bruns Ataxia is a rare, neurodegenerative disorder characterized by progressive loss of motor coordination and balance. The condition is named after the German neurologist Ludwig Bruns, who first described it in the late 19th century.

Symptoms and Signs

The primary symptom of Bruns Ataxia is a progressive loss of balance and coordination, known as ataxia. This typically begins with difficulty walking and progresses to affect the arms and trunk. Other symptoms may include dysarthria (difficulty speaking), nystagmus (involuntary eye movements), and dysphagia (difficulty swallowing).

Causes

Bruns Ataxia is caused by mutations in the gene responsible for producing a protein called frataxin. This protein is essential for the proper functioning of mitochondria, the energy-producing structures within cells. When frataxin levels are reduced, it leads to mitochondrial dysfunction and the death of nerve cells in the cerebellum, the part of the brain that controls balance and coordination.

Diagnosis

Diagnosis of Bruns Ataxia is based on clinical examination, patient history, and genetic testing. Neurological examination may reveal signs of ataxia, dysarthria, and nystagmus. Genetic testing can confirm the presence of mutations in the frataxin gene.

Treatment

There is currently no cure for Bruns Ataxia. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy to improve mobility and speech therapy to address dysarthria. Medications may be used to manage specific symptoms, such as antispasmodics for muscle spasms.

Prognosis

The progression of Bruns Ataxia varies widely among individuals. Some people may maintain mobility for many years, while others may become wheelchair-bound. Life expectancy is generally reduced, with heart disease being a common cause of death.

See Also

• Ataxia
• Neurodegenerative disorders
• Mitochondrial diseases