What to know about ataxia telangiectasia

Medical News Today

16 hours ago

Ataxia telangiectasia (AT) is a rare genetic condition that people inherit from their parents. AT affects the part of the brain that controls movement and coordination. Ataxia is when a person has difficulty controlling their voluntary muscle movements. This can lead to difficulty with balance, coordination, speech, and fine motor tasks such as writing, typing, and buttoning clothing.Telangiectasia refers to tiny, spider-like blood vessels under the skin that have become widened or broken and are now visible. These blood vessels are typically more visible around the nose, cheeks, chin, legs, chest, and hands.AT describes when a person experiences a combination of ataxia and telangiectasia. This article discusses AT further, including a more detailed look into the causes, symptoms, diagnosis, treatment, and potential outlook for this condition.CausesThe ataxia-telangiectasia mutated (ATM) gene is responsible for creating the ATM protein. This protein plays a critical role in detecting DNA damage, repairing DNA, signaling cells to stop dividing while under repair, and shutting down cells with extensive damage.Mutations in the ATM gene can occur, which can change how the cells work or prevent them from working at all. AT can occur when a person inherits one mutation of the ATM gene from each parent. Healthcare professionals typically describe this pattern of inheritance as autosomal recessive.An article from 2023 suggests that if both parents carry one copy of the ATM gene mutation, a child may have a:25% chance of developing AT50% chance of carrying the ATM gene mutation but not developing AT25% chance of inheriting two working copies of the geneA person who carries only one copy of the gene mutation will not typically experience any symptoms of AT. However, it is possible that any children they may have will inherit the gene mutation, and they are more likely to develop cancer. »Learn more:Autosomal inheritance: Definition, types, and conditionsSymptomsAT typically appears in early childhood, often before 5 years of age. AT typically affects the nervous system, immune system, and the spine, which can lead to a number of symptoms, including:Movement and coordination issues: Children with AT can experience unsteady walking, a lack of balance, and difficulty coordinating movements.Difficulties with speech: As AT progresses, a person may experience slurred speech and difficulty swallowing.Issues with eye movements: An individual with AT may experience difficulty coordinating eye movements, or oculomotor apraxia.Skin changes: A person with AT may experience small, blue, red, or purple spider-like blood vessels around the eyes, cheeks, and ears. Immune system issues: People with AT may have a weakened immune system, which can increase the risk of infections, particularly in the lungs and sinuses.Other physical changes: A person with AT may experience other symptoms such as premature graying of the hair, fatigue, and delayed physical and sexual development.Additionally, research from 2019 suggests that a child with an immune deficiency, such as AT, may be more at risk of developing cancer. The most common types of cancer related to AT are acute lymphocytic leukemia and lymphoma.DiagnosisTo diagnose AT, a healthcare professional may assess symptoms, take a full medical history, and perform several tests. A healthcare professional will typically look for early symptoms, such as difficulty with balance and coordination, and blood vessels appearing on the skin and eyes.There are several tests a healthcare professional may use to diagnose AT, including:blood tests to detect low levels of certain immune cells and antibodiesgenetic testing to confirm whether a person carries both copies of the ATM gene mutationimaging scans, such as an MRI, to assess any damage to the part of the brain that controls coordination and movementeye tests to assess the movement of the eyesTreatmentResearch is ongoing to find new treatments that target the underlying causes of AT. However, there is currently no cure for AT or a way to slow down the speed at which the condition progresses. However, a healthcare professional can help a person manage symptoms and improve overall quality of life in several ways. For example: Physical therapy may help a person maintain flexibility, balance, and coordination for as long as possible.Speech therapy may help a person address difficulties with breathing, speaking, and swallowing. Boosting the immune system with nutrition, high doses of vitamins, antioxidants, and gamma-globulin injections.OutlookAs AT is a progressive condition, symptoms typically worsen over time. This can affect mobility, coordination, and the immune system. By the time a person reaches adolescence, they may require mobility aids, such as a wheelchair.A person with AT will typically experience a weakening of the immune system, which can increase the chances of developing infections. Therefore, a healthcare professional may regularly monitor people with AT to check for signs of infection.People with AT may also be more at risk of developing certain types of cancer. A healthcare professional will typically perform regular screenings so that they can start any necessary treatment early.The severity of the ATM gene mutation can influence a person's life expectancy. Typically, people with AT live into early adulthood.However, individual outlooks can vary depending on a person's overall health and other factors. For example, an individual with a later onset and slower progression of AT may live until they are approximately 50 to 60 years old. A person should contact a healthcare professional to learn more about their individual outlook.SummaryAT is a rare, genetic condition that can occur when a person inherits one ATM gene mutation from each parent. AT typically affects balance, coordination, the nervous system, the immune system, and the spine. Symptoms can include difficulty with movement, issues with speech, trouble swallowing, and small visible blood vessels on the skin and eyes. A healthcare professional will typically diagnose AT by assessing symptoms, taking a full medical history, and performing several tests. There is currently no cure for AT. However, management options such as physical therapy, speech therapy, and immune system support can improve overall quality of life.People should contact a healthcare professional if they or a child in their care is experiencing symptoms that may indicate AT. A doctor can make an accurate diagnosis and recommend appropriate treatment, if necessary.