Ataxia Telangiectasia Syndrome, also known as A-T Syndrome, is a rare genetic disorder that primarily affects the nervous system. It is characterized by the combination of ataxia, telangiectasias, and immune deficiencies.
Ataxia refers to the loss of voluntary muscle control, leading to problems with movement and coordination. Individuals with Ataxia Telangiectasia Syndrome often have an unsteady gait, difficulty with fine motor tasks, and tremors.
Telangiectasias are small, dilated blood vessels visible on the skin and mucous membranes, such as the eyes and inside the nose. These spider-like clusters of blood vessels may appear in various areas of the body, particularly the cheeks, ears, and neck.
The immune system deficiencies associated with A-T Syndrome make affected individuals more susceptible to infections, particularly of the respiratory tract. They may also have reduced levels of certain immune cells, such as lymphocytes, leading to a compromised immune response.
Other symptoms of Ataxia Telangiectasia Syndrome may include respiratory problems, speech and swallowing difficulties, delayed physical and cognitive development, increased cancer risk, and sensitivity to ionizing radiation.
This syndrome is caused by mutations in the ATM gene, which is responsible for maintaining the stability and repair of DNA in cells throughout the body. Inheritance is autosomal recessive, meaning the disorder occurs when an individual inherits two copies of the defective gene, one from each parent.
While there is currently no cure for Ataxia Telangiectasia Syndrome, management focuses on treating symptoms and providing support to optimize quality of life. This may involve physical and occupational therapy, speech therapy, immunoglobulin replacement therapy, and regular monitoring for potential complications, such as cancer.
