Ataxia with Vitamin E Deficiency (AVED)

External Ids:

ICD10 33 R27.0 SNOMED-CT via HPO 69 246635007 397540003 7973008 563001 102968003 65194006 95662005 73211009 8011004 41581000 56731001 349006 37280007 22325002 32566006 26544005 26079004 233873004 45227007 205091006 23133003 609225004 111266001 64217002 74035001 14648003 421689001 102594003 44808001 698247007 more

UMLS 73 C1848533

NIH Rare Diseases : ⁵³ 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 nystagmus and diabetes mellitus

Genetics Home Reference : ²⁵ 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

Search NIH Clinical Center for Ataxia with Vitamin E Deficiency

Search GEO for disease gene expression data for Ataxia with Vitamin E Deficiency.