Ataxia with Vitamin E Deficiency (AVED)

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ICD10 34 R27.0 SNOMED-CT via HPO 70 102594003 102968003 111266001 14648003 205091006 22325002 23133003 233873004 246635007 26079004 26544005 32566006 349006 37280007 397540003 41581000 421689001 44808001 45227007 563001 56731001 609225004 64217002 65194006 698247007 73211009 74035001 7973008 8011004 95662005 more

UMLS 74 C1848533

NIH Rare Diseases : ⁵⁴ Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements (ataxia), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye (retinitis pigmentosa). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene. When this gene is damaged, vitamin E cannot be distributed throughout the body. Vitamin E is important because it protects the cells of the neurological system (neurons) from dangerous molecules called free radicals. AVED is inherited in an autosomal recessive manner. Treatment for AVED includes vitamin E supplements, which will prevent AVED from developing if given before symptoms begin and may reverse some neurological symptoms if begun after AVED develops.

MalaCards based summary : Ataxia with Vitamin E Deficiency, also known as ataxia with isolated vitamin e deficiency, is related to vitamin e, familial isolated deficiency of and atrioventricular block, and has symptoms including ataxia An important gene associated with Ataxia with Vitamin E Deficiency is TTPA (Alpha Tocopherol Transfer Protein). Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are muscle weakness and areflexia

Genetics Home Reference : ²⁶ 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.

GeneReviews: NBK1241

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