About Ataxia Telangiectasia
Ataxia-Telangiectasia (A-T) is a rare, progressive, multi-systematic inherited disorder primarily affecting the nervous system & immune systems. Typically by the age of 5, coordinating movements begin to decline and children develop difficulty walking, balance and hand coordination (Ataxia), involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance between 8 and 10 years old. People with A-T have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of A-T.
People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (Leukemia) and cancer of immune system cells (Lymphoma). Affected individuals are very sensitive to the effects of radiation exposure, including medical x-rays. The life expectancy of people with Ataxia Telangiectasia varies greatly, but affected individuals typically live into early adulthood.
A-T Quick Facts:
• There are only approximately 600 children in the USA diagnosed with A-T
• A-T is neuro-degenerative and progressive, similar to ALS
• A-T encompasses symptoms of Muscular Sclerosis, Muscular Dystrophy, Parkinson’s and immune deficiency
• Children with A-T are 1000% more at risk for blood cancer than their peers and suffer from chronic respiratory illnesses due to their low immunity
• A-T is radio-sensitive making cancer extremely difficult to treat
• A-T is considered an Orphan Disease and receives little to no Federal or large pharmaceutical funding for research
• A-T children typically need assistance of a wheelchair by 8-10 years old
• The life expectancy of a child with A-T is late teens to mid-20’s
• There is current no formal treatment and no cure
Reference: NIH US National Library of Medicine. 2016.7/05/2016. https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia#