Ataxia with vitamin E deficiency

Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.

Other names

Ataxia with isolated vitamin E deficiency; AVED; Familial isolated vitamin E deficiency; FIVE; Friedreich ataxia phenotype with selective vitamin E deficiency; Friedreich-like ataxia

Inheritance pattern

Autosomal recessive

Related genes

TTPA

Source: MedlinePlus Genetics, U.S. National Library of Medicine.