{"id":28279,"date":"2026-02-09T07:38:02","date_gmt":"2026-02-09T13:38:02","guid":{"rendered":"https:\/\/www.ataxia.org\/?page_id=28279"},"modified":"2026-02-09T09:29:08","modified_gmt":"2026-02-09T15:29:08","slug":"at","status":"publish","type":"page","link":"https:\/\/www.ataxia.org\/at\/","title":{"rendered":"A-T"},"content":{"rendered":"\t\t
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Ataxia-Telangiectasia (A-T)<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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A collection of resources for individuals and families affected by Ataxia-<\/span>T<\/span>elangiectasia<\/span>\u00a0(A-T)<\/span>.<\/span><\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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BECOME A MEMBER >><\/strong><\/a><\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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Ataxia-telangiectasia (A-T)<\/span>\u00a0<\/span>is caused by a genetic mutation that is\u00a0<\/span>passed on<\/span>\u00a0from parents to their children.\u00a0<\/span>Ataxia-telangiectasia (A-T)<\/span>\u00a0<\/span>leads to problems with balance and coordination<\/span>, cancer, lung disease, and immune system difficulties<\/span>.\u00a0<\/span><\/p>

For complete information about symptoms, diagnosis, and treatment of Ataxia, visit our What is Ataxia?<\/a><\/span><\/strong> page. This page contains NAF’s resources that are specific to A-T.\u00a0<\/p>

Sign up for our mailing list<\/a><\/span><\/strong> to stay up-to-date on Ataxia news.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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Webinars<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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All About Ataxia-Telangiectasia (A-T)
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Presented by Howard Lederman, MD, PhD<\/strong><\/em><\/p>

This webinar, co-hosted with the A-T Children\u2019s Project, covers the causes and symptoms of Ataxia-Telangiectasia, the typical diagnostic journey for those affected, and what to expect from clinical care.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t

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\nResearch & Treatment Development for Ataxia\u2013telangiectasia (A-T)<\/a><\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Presented by Brad Margus, MBA<\/strong><\/em><\/p>

This webinar, presented in partnership with the A-T Children\u2019s Project, covers research and treatment development for A-T, how the condition is studied, and an overview of the current landscape of research and drug development.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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NAF offers webinars on many topics to help you live better with Ataxia. Visit\u00a0www.ataxia.org\/webinars<\/a><\/span>\u00a0to find other helpful presentations.<\/strong><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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Participate in Research and Treatment Development <\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Participating in a research study or clinical trial is one way to take an active role in furthering understanding and treatment of Ataxia. It is also a way to get access to new treatment options before they are widely available. To find studies that are enrolling patients, visit our\u00a0Help Develop New Treatments<\/a><\/strong><\/span>\u00a0page.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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A-T Information<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Ataxia-telangiectasia (A-T)<\/span>\u00a0<\/span>is a rare genetic disorder caused by mutations in the\u00a0<\/span><\/span>ATM<\/span><\/span>\u00a0<\/span>gene<\/span>.\u00a0<\/span>A-T is the\u00a0<\/span>second most common childhood recessive ataxia<\/span>, with\u00a0<\/span>Friedreich Ataxia being the most common<\/span>.\u00a0<\/span>The prevalence of A-T is estimated to be between 1 in 40,000 and 1 in\u00a0<\/span>100,000 people<\/span>\u00a0worldwide.\u00a0<\/span>It is estimated that 1 in 100 people in the United States are carriers of the mutated\u00a0<\/span><\/span>ATM<\/span><\/span>\u00a0gene.\u00a0<\/span><\/span>\u00a0<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Like many other forms of Ataxia,\u00a0<\/span>A-T<\/span>\u00a0<\/span>is marked by\u00a0<\/span>poor balance and coordination<\/span>. In fact, the word Ataxia means incoordination.<\/span>\u00a0<\/span>There can also be problems coordinating muscles that control speech<\/span>,\u00a0<\/span>swallowing<\/span>, and eye movement<\/span>.<\/span>\u00a0Other common A-T symptoms include immune system\u00a0<\/span>problems, increased\u00a0<\/span>cancer risk, and\u00a0<\/span>chronic lung infections<\/span>.\u00a0<\/span>Less common symptoms may include\u00a0<\/span>Telangiectasia<\/span>\u00a0(red veins in the corners of the eyes or on the surface of the ears or the face)<\/span>, muscle twitches, and neuropathy.\u00a0<\/span>Intelligence is not typically\u00a0<\/span>impacted<\/span>\u00a0by A-T.\u00a0<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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A-T\u00a0symptoms usually begin\u00a0in early childhood.\u00a0The first symptom is usually cerebellar ataxia between the\u00a0ages\u00a0of 2 and 5 years old.\u00a0This condition is progressive, meaning that symptoms will continue to worsen over time.\u00a0People with A-T will\u00a0eventually need to use a wheelchair.\u00a0Lifespan is\u00a0significantly\u00a0shortened,\u00a0with children with A-T living until adolescence or early adulthood.\u00a0The three most common causes of death for people with A-T are cancer, infection, and\u00a0progressive lung failure.\u00a0As the treatment and early detection of cancer and infection have improved, so too has the prognosis for children with A-T.\u00a0Challenges\u00a0remain\u00a0regarding\u00a0the treatment of\u00a0chronic lung failure.<\/span>\u00a0<\/span><\/p>

Some\u00a0individuals\u00a0have\u00a0Mild\u00a0Variant A-T, also known as\u00a0Variant A-T or\u00a0adult-onset A-T.\u00a0People with Variant A-T\u00a0begin to develop symptoms in late adolescence or early adulthood. Their symptoms tend to be milder than Classic or childhood-onset A-T. However, this\u00a0condition is\u00a0also\u00a0progressive.\u00a0Due to the rarity of\u00a0Variant A-T, there is still much that we\u00a0don\u2019t\u00a0know about the prognosis for these patients.\u00a0<\/span>\u00a0<\/span><\/p>

Treatments such as physiotherapy, occupational therapy, and speech-language therapy can also significantly improve the lives of people with\u00a0A-T. Medications to treat specific symptoms may\u00a0also\u00a0be helpful.\u00a0<\/span>\u00a0<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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A-T Genetics<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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A-T\u00a0is an inherited genetic disorder. It is caused by an abnormality of a single gene called the\u00a0<\/span>ATM<\/span><\/i>\u00a0gene. The abnormality can be passed from generation to generation by family members who carry it. Males and females are equally likely to inherit the genes that cause\u00a0A-T.\u202f<\/span>\u00a0<\/span><\/p>

Inherited diseases like\u00a0A-T\u00a0occur\u00a0when one pair\u00a0of the body\u2019s\u00a020,000 genes does not work properly. Genes are microscopic structures within the cells of our bodies that\u00a0contain\u00a0instructions for every feature we inherit from our parents. Two copies of each gene are\u00a0inherited;\u00a0one copy from the mother and one from the father.\u00a0A-T is\u00a0autosomal recessive, which means that an individual only develops symptoms of the disease if both copies of his\/her\u00a0<\/span>ATM<\/span><\/i>\u00a0gene are not working properly.<\/span>\u00a0<\/span><\/p>

An individual who has one copy of an altered or nonfunctioning\u00a0<\/span>ATM\u00a0<\/span><\/i>\u00a0gene\u00a0does not develop any neurological symptoms and is called a carrier. For people who are carriers, the normal\u00a0<\/span>ATM<\/span><\/i>\u00a0gene\u00a0mostly\u00a0compensates for the nonfunctioning copy of the gene.\u00a0However, a child whose parents are both carriers can inherit a \u201cdouble dose\u201d of the altered\u00a0<\/span>ATM<\/span><\/i>\u00a0gene and will therefore develop\u00a0A-T.\u00a0<\/span>\u00a0<\/span><\/p>

Most of the time,\u00a0carriers have no idea that they have an abnormal\u00a0<\/span>ATM<\/span><\/i>\u00a0gene because they do not have\u00a0neurological\u00a0symptoms.\u00a0It is often only when a child is diagnosed with\u00a0A-T that\u00a0the parents learn that they are both carriers. When both parents are carriers, each of their children has a 25 percent chance of having\u00a0A-T and\u00a0a 50 percent chance of being a carrier.\u00a0Carriers of the mutated\u00a0<\/span>ATM<\/span><\/i>\u00a0gene\u00a0are at increased risk of developing cancer and heart disease.\u00a0<\/span>\u00a0<\/span><\/p>

Gene tests can be performed for diagnostic purposes to\u00a0determine\u00a0what kind of Ataxia is within a person or family. Genetic testing can also be done, in some circumstances, even before there are symptoms, to\u00a0determine\u00a0whether a person carries the abnormal gene or genes that cause Ataxia. This is called predictive or presymptomatic testing. A gene test can also be used to\u00a0determine\u00a0whether a fetus has an abnormal Ataxia gene. This is called prenatal testing. Anyone who is considering a predictive or prenatal test should consult with a genetic counselor to discuss the reasons for the test, the possible outcomes, and how those outcomes might affect the person emotionally, medically, or socially.<\/span>\u202f<\/span>\u00a0<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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A-T Diagnosis<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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Early diagnosis is critical for\u00a0<\/span>A-<\/span>T symptom<\/span>\u00a0management. Depending on when or in what order symptoms begin to show, different clinical specialists will be involved in the diagnosis process<\/span>.\u00a0<\/span>\u00a0<\/span>Clinical examinations from a\u00a0<\/span>doctor can help\u00a0<\/span>assess<\/span>\u00a0balance,\u00a0<\/span>coordination, vision, and speech impairments.\u00a0<\/span>MRI\u00a0<\/span>scans<\/span>\u00a0<\/span>are\u00a0<\/span>often used to confirm cerebellar atrophy or degeneration.\u00a0<\/span>Blood tests can be used to detect elevated levels of molecules that suggest someone has A-T<\/span>.\u00a0\u00a0<\/span>However<\/span>, a specific diagnosis of\u00a0<\/span>A<\/span>-T<\/span>\u00a0can only be made by a genetic test.\u00a0<\/span>Genetic testing can\u00a0<\/span>identify<\/span>\u00a0the specific mutations present in the\u00a0<\/span><\/span>ATM<\/span><\/span>\u00a0gene<\/span>.<\/span><\/span>\u00a0<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t

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\n\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tPrintable Flyer<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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A-T Research News<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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SCAsource provides Ataxia research news, directly from researchers to the Ataxia community. Visit\u00a0<\/span>SCAsource<\/a><\/span><\/strong> to see their full collection.\u00a0<\/span>Here is a collection of articles about Ataxia Type Here.\u00a0<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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\n\t\t\t\n\t\t\t\tSnapshot: What is intelligibility?\t\t\t<\/a>\n\t\t<\/h3>\n\t\t\t\t
\n\t\t\t\t\t\n\t\t\tJanuary 19, 2024\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t
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Speech intelligibility refers to how many words can be correctly understood by a listener. For example, if someone says the phrase, \u201cMy name is John,\u201d and a listener hears, \u201cMy Read More…<\/a><\/p>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/article>\n\t\t\t\t

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\n\t\t\t\n\t\t\t\tSnapshot: What is prosody?\t\t\t<\/a>\n\t\t<\/h3>\n\t\t\t\t
\n\t\t\t\t\t\n\t\t\tNovember 10, 2023\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t
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Speech not only consists of the words we say, but how we say them. That \u201chow\u201d is what is called prosody: the pitch, loudness, and timing of speech. The term Read More…<\/a><\/p>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/article>\n\t\t\t\t

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\n\t\t\t\n\t\t\t\tSnapshot: What is Cerebrospinal Fluid (CSF)?\t\t\t<\/a>\n\t\t<\/h3>\n\t\t\t\t
\n\t\t\t\t\t\n\t\t\tAugust 20, 2021\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t
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Public transit may not be the first thing that comes to mind when we think about the brain, but it\u2019s a great way to understand how all the parts of Read More…<\/a><\/p>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/article>\n\t\t\t\t

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\n\t\t\t\n\t\t\t\tSnapshot: What is a Gene?\t\t\t<\/a>\n\t\t<\/h3>\n\t\t\t\t
\n\t\t\t\t\t\n\t\t\tDecember 4, 2020\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t
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A gene is the basic physical unitof heredity. Every living cell contains genetic information that determines an organism\u2019s development, form, and function. This genetic information is encoded by two macromolecules: Read More…<\/a><\/p>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/article>\n\t\t\t\t

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\n\t\t\t\n\t\t\t\tSnapshot: What is recessive ataxia?\t\t\t<\/a>\n\t\t<\/h3>\n\t\t\t\t
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What is a recessive disorder? A recessive disorder is one that has a specific disease mechanism. For a recessive disorder to occur, both copies of the causative gene must be Read More…<\/a><\/p>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/article>\n\t\t\t\t

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\n\t\t\t\n\t\t\t\tSnapshot: What is Magnetic Resonance Imaging (MRI)?\t\t\t<\/a>\n\t\t<\/h3>\n\t\t\t\t
\n\t\t\t\t\t\n\t\t\tNovember 15, 2019\t\t<\/span>\n\t\t\t\t<\/div>\n\t\t\t\t
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What is it? Magnetic resonance imaging (MRI) is a type of technology used to take detailed pictures of the body. It is commonly used to detect abnormalities in the body, Read More…<\/a><\/p>\n\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/article>\n\t\t\t\t<\/div>\n\t\t\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t

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Ataxia Type Partner Organizations<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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