Guide To The Major Types Of Ataxia

Genetic Ataxia

Genetic ataxia, also known as inherited ataxia, occurs as a result of a genetic mutation a child inherits from their parents. In some cases of genetic ataxia, a child can inherit the condition if just one of their parents carries the mutation. However, some types of genetic ataxia can only be inherited if both parents are carriers. A condition known as Friedreich's ataxia is one of the more well-known forms of genetic ataxia. It occurs in an estimated one out of every forty thousand individuals, and most cases are diagnosed between the ages of ten and fifteen. Patients with this condition typically experience muscle weakness, hearing loss, absent reflexes in the lower limbs, structural changes in the feet, and difficulty feeling vibrations in the legs and feet. In addition, doctors estimate seventy-five percent of Friedreich's ataxia patients have cardiovascular issues, the most common of which is hypertrophic cardiomyopathy, a thickening of the heart muscle that can result in palpitations, chest pain, and shortness of breath. Genetic testing can be performed to diagnose Friedreich's ataxia and other forms of genetic ataxia, and patients may also need to have electromyography studies, electrocardiograms, and echocardiograms. Physical therapy and adaptive devices can improve mobility for patients with this form of ataxia.

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