Ataxia-telangiectasia (A-T) is a rare, inherited genetic disease that affects many organs and systems in the body. It is characterized by progressive difficulty with coordination, telangiectasias (tiny red spots on the skin), and a compromised immune system. The disease is caused by a mutation in a gene known as ATM, which is responsible for controlling cell division and repair.
Brain and Nervous System
Ataxia-telangiectasia affects the brain and nervous system, causing difficulty with coordination and balance. This can lead to problems with walking, standing, and speaking. It can also cause involuntary muscle movements, tremors, and difficulty with eye movement.
Immune System
A-T is associated with a weakened immune system, making individuals more susceptible to infections. People with A-T often have fewer white blood cells than normal, which affects their ability to fight off infections. They may also have difficulty producing antibodies, which are necessary for fighting off bacteria and viruses.
Respiratory System
The respiratory system can also be affected by A-T. People with A-T may experience difficulty breathing, wheezing, and shortness of breath. They may also be more prone to respiratory infections such as pneumonia.
Gastrointestinal System
Ataxia-telangiectasia can also affect the gastrointestinal system, causing difficulty with digestion and absorption of food. People with A-T may experience abdominal pain, bloating, nausea, and vomiting.
Eyes
The eyes can also be affected by A-T. People with A-T may have difficulty with eye movement, as well as dry eyes and blurred vision. In some cases, A-T can lead to vision loss.
Ataxia-telangiectasia affects many organs and systems in the body, some of which can be more serious than others. It is important to talk to your doctor if you or someone you know has A-T to discuss the best treatments and management options.