Latest news with #AtaxiaTelangiectasia
CTV News
3 hours ago
- Health
- CTV News
AT awareness: Maritime family sheds light on rare condition
A Maritime family is sharing their story during AT Awareness Month. Their daughter, 12-year-old Olivia Demone, has one of the few known cases of Ataxia-Telangiectasia (AT) in Canada. AT is a rare genetic condition that affects the function of the nervous system, the immune system and several other body systems. 'In 2018 she was diagnosed with Ataxia-Telangiectasia, which is a rare genetic disease. AT affects your muscles, your balance, and your immune system,' said Amy Demone, Olivia's mother. Olivia is one in 50 known diagnosed cases in Canada and one in fewer than 500 cases in the United States, says Amy. 'August is AT Awareness Month, so all AT parents share a lot of information about it and support each other and let people know that this does exist even though it's really rare.' Amy said Olivia started showing signs of the condition when she was very young. 'Back when she was in preschool, she started showing signs of being really off balance and you kind of think that is your typical kid, but it was more severe for her. So that prompted us to go get her checked to see what was going on with her.' 'It was devastating news,' said Scott Demone, Olivia's father. 'We never even heard of it. Getting classified as a rare disease we immediately were looking up information about it. Heartache, helplessness, what do you do?' 'Olivia is a smart, beautiful girl who wants to do everything independently. She is wonderful and everybody loves her. Her smile is contagious,' said Amy. 'My biggest hope is for a treatment that will help ease the symptoms and, of course, a cure. That is the most important thing.' AT Awareness Month A Maritime family sheds light on a rare condition during AT Awareness Month. For more Nova Scotia news, visit our dedicated provincial page
Medical News Today
4 days ago
- Health
- Medical News Today
What to know about ataxia telangiectasia
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 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 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 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 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 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 with speech: As AT progresses, a person may experience slurred speech and difficulty with eye movements: An individual with AT may experience difficulty coordinating eye movements, or oculomotor 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 physical changes: A person with AT may experience other symptoms such as premature graying of the hair, fatigue, and delayed physical and sexual 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 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 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 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 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 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 severity of the ATM gene mutation can influence a person's life expectancy. Typically, people with AT live into early 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 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 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.
