Ataxia Telangiectasia

The Ataxia Telangiectasia syndrome (also medically known as 'Boder-Sedgwick syndrome' or 'Louis–Bar syndrome') is a rare genetic neurodegenerative disease that affects many parts of the body and causes severe disabilities.

The combination of 'Ataxia Telangiectasia' derives from the fact the poor coordination (ataxia) and small dilated blood vessels (telangiectasia) are both main consequences of the disease. A-T affects the control center of the brain, the cerebellum, causing deformities which leads to different body disabilities. In most cases, the disease also affects and weakens the immune system increasing the chances for cancer and different infections.

This disease is caused by a sequence disruption and mutation in the gene ATM (Ataxia telangiectasia mutated). The ATM gene in responsible for providing the instructions for making a protein that plays an important role in the development and activity of several body systems (including the nervous and immune system). Mutations in the ATM gene reduce or eliminate the function of the important ATM protein leading to disabilities in the child's progression.

Ataxia Telangiectasia Video

Ataxia Telangiectasia Symptoms

Ataxia telangiectasia becomes detectable with a child's first attempts at locomotion as one will be able to spot difficulties in simple body movements like turning the head and moving around. Until the age of 5 or 6 the disease progresses very slowly and is almost unnoticeable.

At the ages of 5-6 the disease accelerates in its development and young patients can develop different mobile problems that include:

• Difficulty walking
• Balance and hand coordination problems
• Involuntary jerking and muscle twitches
• Disturbances in nerve functions

In addition to these symptoms, controlled eye movements and slurred speech patterns are also possible affects. The movement problems will typically lead to the need of wheelchair assistance by adolescence. A-T patients are also sensitive to X-ray and other high energy radiation.

It should be mentioned that most patients possess average mental abilities and are able to complete different stages of education in their lives, depending on how slow the disease progresses.

Ataxia Telangiectasia Treatments

There no complete cures for this genetic disease. Treatments are symptomatic and supportive and may include the following methods:

• Physiotherapy – The use of exercises for the limited bodily movement.
• Gamma-globulin – In order to prevent the weakening of the immune system.
• Vitamin supplements – For the weakened immune system.
• Speech therapy.
• Antibiotics - To treat infections
• Cancer Treatments – For cancer patients, no radiation will be used as A-T patients are extremely sensitive to it. Oncologists will focus primarily on chemotherapy.
• Deferoxamine – A chemical used to reduce the iron in the body. There is advanced research showing that this chemical has a stabilizing effect on the A-T affected cells.

There is also constant research in the field of genetic engineering which may be able to create a solution for patients who carry the ATM gene.

Ataxia Telangiectasia Treatments Abroad

Ataxia Telangiectasia is a very difficult disease to deal with. If you are considering A-T treatments for you or your child abroad, TicketMed will be happy to assist you in any way possible. Starting from acquiring all the information needed to scheduling a wide variety of treatments in top pediatric clinics around the globe. Contact us.