Louis-Bar Syndrome

By thuang8, 20th Feb 2012 | Follow this author | RSS Feed | Short URL http://nut.bz/38cnh4w8/
Posted in Wikinut>Health>General Health>Diseases & Infections

What Ataxia-Telangiectasia is, causes, signs and symptoms, treatment, and prevention.

What is it?
Causes
Signs and Symptoms
Treatment and Prevention

What is it?

Ataxia-Telangiectasia (A-T) or otherwise known as Louis-Bar Syndrome is an autosomal recessive disease that affects multiple symptoms that include neurological impairment and susceptibility to lung infections. An autosomal recessive order means that both parents carry the allele for the disorder and may not express the disease. In order for the disease to show or be phenotypic, the child must receive one allele from each parent. If it weren't expressed the genotype of the parent/child is dominant and would be a different form of the same gene. This form takes "dominance" over the gene that would have expressed A-T, thus showing no expression.

Causes

The gene the recessive trait affects is called Ataxia-Telangiectasia Mutated (ATM) and causes problems with the family of phosphatidylinositol-3-kinase which is involved in cell cycle control, intracellular protein transport, and DNA damage response. These problems surmounts to the wasting away of the cerebellum (atrophy) which causes the ataxia.

Signs and Symptoms

Ataxia is the loss of fine motor skills and is coupled with telangiectasia, hence the name. Telangiectasia is the dilation of blood vessels which usually occurs near the eye, but can be on the surfaces of skin. A common test is a child's in ability to touch an object infront of the child the first try. Signs should show during a child's 12 to 14 month period growth when the child is learning to walk. By 5 years old the signs of A-T would be apparent.

Treatment and Prevention

Once the an individual has the disease, the only way to treat it is to alleviate the symptoms as best as possible. These include immunoglobulin replacements and supportive therapy to prevent further complications. Finally, best prevention of this disease is to seek genetic counseling.