Ataxia Explanations

It called ataxia to an alteration in the functioning of the nervous system. When the disorder affects the development of voluntary movements, it is classified as locomotor ataxia, according to what is detailed in the dictionary of the Digopaul.

Those with ataxia have trouble coordinating the movements of different parts of the body. In addition to movements of the legs, arms, hands and other sectors, ataxia can also affect swallowing and the action of moving the eyes, for example.

The cause of ataxia is found in the nervous system. When the origin is in the cerebellum, it is called cerebellar ataxia. Ataxia is generally seen as a clinical sign of other diseases and conditions (head trauma, brain cancer, etc.), although there are also specific diseases known as ataxias.

The ataxia of Friedreich, for example, is a neurodegenerative and progressive hereditary disease that causes damage to the dorsal spinal ganglia and the cerebellum. Its effects include lack of coordination of movements, decreased sensation, and scoliosis.

The cause of this type of ataxia is an abnormality or defect in a gene called frataxin that leads to excessive production of the trinucleotide repeat (GAA), a specific part of DNA. Generally, the body has a minimum of eight and a maximum of thirty copies of GAA, but in people with Friedreich’s ataxia there may be more than a thousand. The repercussion of this factor is very high: the greater the number of copies, the earlier the disease will manifest itself and the faster the deterioration of the person.

It is important to note that Friedreich’s ataxia belongs to the group of autosomal recessive genetic disorders; This means that to contract this disease it is necessary to inherit one copy of the abnormal gene from each of the parents.

The symptoms of Friedreich’s ataxia, which usually appear from the time before puberty, occur due to the wear and tear of certain parts of the spinal cord and brain that are responsible for functions such as control of muscle movement and movement. coordination. Among the most common are:

* speech problems;

* alterations in vision, especially in color;

* reduced ability to perceive vibrations in the legs;

* foot disorders, including high arches and hammer toe;

* about 10% of people experience hearing loss;

* loss of balance and coordination that often lead to frequent falls;

* instability in gait, with a tendency to worsen.

Some of the tests that doctors often perform for patients with Friedreich’s ataxia include the following: electrocardiography, electromyography, nerve conduction tests, muscle biopsy, CT scan, chest X-ray, and electrophysiological studies. Eye exams can reveal optic nerve damage, something that usually has no symptoms, while blood sugar exams can detect impaired glucose tolerance or diabetes.

Since there is no cure for Friedreich’s ataxia, it is only possible to improve the quality of life of patients. For this there are treatments such as speech therapy, physiotherapy and assistance to use the wheelchair.

The syndrome Louis-Barr, also known as ataxia-telangiectasia, is another disease of hereditary type. In this case, it is produced by a mutation that appears in the ATM gene, located on chromosome 11. Lack of coordination is compounded by discoloration of the skin, spasms, and seizures. It should be noted that ataxia-telangiectasia can be divided into classical or non-classical according to its characteristics.