What is hereditary ataxia?

Hereditary ataxia is a group of neurological genetic degenerative disorders characterized by chronic progressive cerebellar ataxia. There are two types of inheritance, autosomal dominant and autosomal recessive. Autosomal dominant ataxia, also known as spinal cerebellar ataxia, or SCA, has dozens of types, and the most common type in China is SCA3, which accounts for about half of hereditary ataxias. Patients with autosomal recessive ataxia often develop symptoms around puberty, and in addition to symptoms such as unstable walking, easy to fall, and slurred speech, they may also develop cardiomegaly, and some patients may have complications such as diabetes. At the age of 30, the patient can hardly walk. The main clinical manifestations: dizziness, unstable walking, easy to fall, more difficult to go downstairs than upstairs, clumsy and uncoordinated movements, slurred speech, difficulty in swallowing, etc. These symptoms will gradually worsen. The disease has a genetic phenomenon of early presentation, that is, in the same family, the next generation has an earlier age of onset than the previous generation, and the clinical symptoms are also more severe. Patients with typical ataxia symptoms, cranial MRI findings of cerebellar and brainstem atrophy, and a family history of the disease should be highly suspected. Genetic analysis is required to confirm the diagnosis. The method is to draw peripheral venous blood to detect the causative gene. To date, there is no specific treatment, but symptomatic treatment can alleviate the symptoms. Medication: drugs that promote acetylcholine synthesis, such as cytidylcholine or toxic lentil; bupropion can improve ataxia symptoms; coenzyme Q10, ATP, inosine and B vitamins can improve brain function and metabolism. Physical therapy, rehabilitation and functional exercise (e.g., walking in a straight line) are beneficial in maintaining the motor function of patients.