What is Ataxia With Vitamin E Deficiency?

Ataxia with vitamin E deficiency (AVED) is an inherited disease that causes the nervous system to degenerate, leading to a progressive inability to control one’s voluntary movements (ataxia). If treated early and consistently with vitamin E, symptoms of the disease can be avoided.

If untreated with vitamin E, other symptoms of the disease can include difficulty speaking, loss of sensation in the arms and legs, and loss of some visual acuity. In some people, intellectual decline and mental problems can occur. Other people with AVED have experienced heart problems as well.

In people with the disease who remain untreated, movement problems often begin between the ages of 4 and 18 and worsen over time. Early symptoms often include clumsiness of the hands, problems with handwriting, and reduced awareness of how one's body is positioned. These people will lose tendon reflexes in the arms and legs.

The type and severity of symptoms will vary from person to person, even among those in the same family.

How common is Ataxia With Vitamin E Deficiency?

AVED is rare, but its exact prevalence is unknown. It may be more common in people of Mediterranean or North African descent.

How is Ataxia With Vitamin E Deficiency treated?

AVED is treatable with high doses of vitamin E taken regularly throughout life. If taken before symptoms begin, vitamin E can prevent symptoms from occurring at all. If symptoms have already begun, vitamin E may prevent them from worsening and in some people, symptoms have been reversed to some degree. Unsteadiness walking, however, often cannot be reversed.

People with AVED should not smoke, as this can reduce the amount of vitamin E in the body. They also should not undertake jobs that require quick responses or good balance. Before learning to drive a car, their abilities should be assessed to determine whether driving is safe.

What is the prognosis for a person with Ataxia With Vitamin E Deficiency?

If treated with vitamin E before symptoms start, people with AVED can lead normal lives. Without treatment, people with AVED will become wheelchair-reliant between the ages of 11 and 50, and may develop significant physical and mental problems.