Ataxia-telangiectasia (A-T) is a rare, genetic disorder that affects both children and adults. It is caused by a mutation in the ATM gene, which is responsible for making proteins that help control the growth and repair of cells. A-T affects the brain, immune system, and other organs in the body. Symptoms can range from mild to severe, and may include ataxia (uncoordinated movements), telangiectasia (red, dilated blood vessels on the skin), weakened immune system, frequent infections, and an increased risk of cancer.
Symptoms of Ataxia-Telangiectasia
Ataxia-telangiectasia can cause a wide range of symptoms, including:
• Ataxia, or uncoordinated movements: A-T patients may have difficulty walking, balancing, and making their hands and feet move in a coordinated fashion.
• Telangiectasia, or red, dilated blood vessels on the skin: These vessels are more noticeable in fair-skinned individuals, and are most commonly seen on the face, eyelids, lips, and ears.
• Weak immune system: A-T patients may be more susceptible to frequent illnesses, such as colds and ear infections.
• Increased risk of cancer: A-T patients may have an increased risk of developing some types of cancer, such as lymphoma or leukemia.
Diagnosis of Ataxia-Telangiectasia
Ataxia-telangiectasia is diagnosed through a combination of physical exams, medical tests, and genetic testing. Physical exams may reveal signs of ataxia, telangiectasia, or weakened immunity. Medical tests, such as blood tests and imaging scans, may be used to diagnose the condition. Finally, genetic testing can be used to confirm a diagnosis of A-T.
Treatment of Ataxia-Telangiectasia
Ataxia-telangiectasia is a progressive disorder, so treatment is focused on managing symptoms and slowing the progression of the disease. Treatment may include physical and occupational therapy to help with coordination and balance, medications to reduce the risk of infections, and surveillance for cancers. Additionally, A-T patients may require nutritional support to ensure they are getting enough nutrients.