The mother has hereditary ataxia

We often say that if a woman is mentally ill, she will give birth to a child with the same mental illness as her. Although this statement is not absolute, if the mother has the characteristics of hereditary ataxia, the next generation born will often show symptoms around puberty, such as unsteady walking, frequent falls, and even diabetes. When they are older, even walking becomes difficult and the symptoms are very serious.

Hereditary ataxias are a group of genetic degenerative diseases of the nervous system characterized by chronic progressive cerebellar ataxia. There are two modes of inheritance: autosomal dominant and autosomal recessive. Autosomal dominant ataxia, also known as spinocerebellar ataxia, abbreviated as SCA, has dozens of types. The most common type in my country is SCA3, which accounts for about half of hereditary ataxias. Autosomal recessive ataxia, patients often show symptoms around puberty. In addition to symptoms such as unsteady walking, easy falls, slurred speech, etc., they may also have cardiomegaly, and some patients may also have complications such as diabetes. By the time they reach their 30s, they can barely walk. Zhao Guixian, Department of Neurology, Huashan Hospital, Fudan University

The main clinical manifestations are: dizziness, unsteady walking, easy falling, going downstairs is more difficult than walking upstairs, clumsy and uncoordinated movements, slurred speech, difficulty swallowing, etc. These symptoms will gradually worsen. This disease has the phenomenon of genetic early onset, that is, in the same family, the onset age of the next generation is earlier than that of the previous generation, and the clinical symptoms are also more severe.

If the patient has typical ataxia symptoms, brain MRI reveals cerebellar and brainstem atrophy, and there is a family history, the disease should be highly suspected, and genetic analysis is required for diagnosis. The method is to draw peripheral venous blood to detect pathogenic genes.

There is no specific treatment yet, but symptomatic treatment can alleviate the symptoms. Drug treatment: Drugs that promote the synthesis of acetylcholine, such as citicoline or physostigmine, can be used; buspirone can improve ataxia symptoms; coenzyme Q10, ATP, inosine and B vitamins can improve brain function and metabolism.

Physical therapy, rehabilitation and functional exercise (such as walking in a straight line) are beneficial to maintaining the patient's motor function.

Gene therapy has the potential to cure this disease, but it is still far from practical application.

The disease develops slowly, with an average course of several decades. If there are no serious cardiopulmonary complications, it will not affect life expectancy in most cases. A small number of patients are bedridden and disabled.

Patients with clinical suspicion should be diagnosed and their genotypes clarified as soon as possible through genetic analysis, which will provide guidance for employment, marriage and childbearing. Proper genetic counseling and prenatal diagnosis can reduce the birth of affected children.