{"id":28269,"date":"2026-02-08T14:38:04","date_gmt":"2026-02-08T20:38:04","guid":{"rendered":"https:\/\/www.ataxia.org\/?page_id=28269"},"modified":"2026-05-15T06:43:47","modified_gmt":"2026-05-15T11:43:47","slug":"scar-20","status":"publish","type":"page","link":"https:\/\/www.ataxia.org\/scar-20\/","title":{"rendered":"SCAR20"},"content":{"rendered":"\t\t
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SCAR20<\/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 A<\/span>utosomal\u00a0<\/span>R<\/span>ecessive S<\/span>pinocerebellar\u00a0<\/span>A<\/span>taxia 20 (SCAR20)<\/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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WEBINARS<\/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

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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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Autosomal Recessive Spinocerebellar Ataxia 20\u00a0<\/span>(<\/span>SCAR20<\/span>) is caused by a genetic mutation that is\u00a0<\/span>passed on<\/span>\u00a0from parents to their children.\u00a0<\/span>SCAR20<\/span>\u00a0leads to problems with balance and coordination,\u00a0<\/span>coarse facial features<\/span>, and\u00a0<\/span>language delays<\/span>.<\/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 SCAR20.<\/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 SCAR20
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Presented by Mike Henne, PhD and Naiara Akizu, PhD<\/strong><\/em><\/p>

Autosomal Recessive Spinocerebellar Ataxia Type 20 or SCAR20* is a rare neurodegenerative disease. This webinar gave an overview of the causes and symptoms of the disease, the typical diagnostic journey for those affected, what to expect for clinical care, and an overview of current research into the disease.<\/p>

*This webinar is about Autosomal Recessive Spinocerebellar Ataxia type 20, not Spinocerebellar Ataxia type 20 (SCA20).<\/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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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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Autosomal Recessive Spinocerebellar Ataxia 20 (SCAR20)\u00a0<\/span>is a rare<\/span>\u00a0neurological disorder that causes people to lose their sense of balance and coordination<\/span>.<\/span>\u00a0It is caused by mutations in the\u00a0<\/span><\/span>SNX14<\/span><\/span>\u00a0gene<\/span>.<\/span>\u00a0<\/span>Symptoms begin in\u00a0<\/span>infancy or\u00a0<\/span>early childhood<\/span>, which makes<\/span>\u00a0SCAR20 a\u00a0<\/span>neurodevelopmental disorder<\/span>.\u00a0<\/span>SCAR20\u00a0<\/span>is an ultra-rare form of ataxia, with an estimated prevalence of less than 1 in\u00a0<\/span>1,000,000<\/span>\u00a0people<\/span>.\u00a0<\/span>Most cases of<\/span>\u00a0<\/span>SCAR20\u00a0<\/span>have occurred\u00a0<\/span>in children who have\u00a0<\/span>consanguineous<\/span>\u00a0parents.\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,\u00a0SCAR20\u00a0is marked by\u00a0poor balance and coordination. In fact, the word Ataxia means incoordination.\u00a0People with SCAR20\u00a0can also\u00a0have\u00a0problems coordinating muscles that control speech and swallowing.<\/span>\u00a0<\/span><\/p>

Most people with\u00a0SCAR20\u00a0also have\u00a0coarse facial features, which means they\u00a0have\u00a0rounded or heavy facial features\u00a0with\u00a0less definition\u00a0of the eyebrows, nose, mouth, or chin.\u00a0Intellectual disability is common, with many people with SCAR20 having poor or absent speech.\u00a0Having a\u00a0global developmental delay\u00a0or\u00a0Autism-like symptoms\u00a0is also common\u00a0amongst people with SCAR20.\u00a0People with SCAR20 may also have\u00a0misshapen joints\u00a0or\u00a0bones.\u00a0<\/span>\u00a0<\/span><\/p>

Less common symptoms of SCAR20 include heart problems,\u00a0kidney problems,\u00a0and an enlarged liver.\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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SCAR20<\/span>\u00a0symptoms usually begin in\u00a0<\/span>infancy or\u00a0<\/span>early\u00a0<\/span>childhood.<\/span>\u00a0<\/span>Most cases are diagnosed around age 2.<\/span>\u00a0<\/span>This condition is progressive<\/span>, meaning that symptoms will continue to worsen over time. People with SCAR20 will eventually need to use a wheelchair.\u00a0<\/span>Lifespan<\/span>\u00a0is usually significantly\u00a0<\/span>reduced.<\/span>\u00a0<\/span>Treatments such as physiotherapy, occupational therapy, and speech-language therapy can also significantly improve the lives of people with\u00a0<\/span>SCAR20<\/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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SCAR20\u00a0is an inherited genetic disorder. It is caused by an abnormality of a single gene called the\u00a0<\/span>SNX14\u202f<\/span><\/i>gene. 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\u00a0SCAR20.\u202f<\/span>\u00a0<\/span><\/p>

Inherited diseases like\u00a0SCAR20\u00a0occur\u00a0when one pair of the body\u2019s 20,000 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 inherited; one copy from the mother and one from the father.\u00a0SCAR20\u00a0is autosomal recessive, which means that an individual only develops symptoms of the disease if both copies of his\/her\u00a0<\/span>SNX14\u202f<\/span><\/i>gene are not working properly.<\/span>\u00a0<\/span><\/p>

An individual who has one copy of an altered or nonfunctioning\u00a0<\/span>SNX14\u202f<\/span><\/i>gene does not develop any neurological symptoms and is called a carrier. For people who are carriers, the normal\u00a0<\/span>SNX14\u202f<\/span><\/i>gene compensates 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>SNX14\u202f<\/span><\/i>gene and will therefore develop\u00a0SCAR20.\u00a0<\/span>\u00a0<\/span><\/p>

Most of the time,\u00a0carriers have no idea that they have an abnormal\u00a0<\/span>SNX14\u202f<\/span><\/i>gene because they do not have symptoms or medical problems that go along with being a carrier. It is often only when a child is diagnosed with\u00a0SCAR20\u00a0that the parents learn that they are both carriers. When both parents are carriers, each of their children has a 25 percent chance of having\u00a0SCAR20\u00a0and a 50 percent chance of being a carrier.<\/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\u00a0can also\u00a0be done, in some circumstances, even before there are symptoms,\u00a0to\u00a0determine\u00a0whether a person carries the abnormal gene or genes that cause Ataxia. This is called predictive or presymptomatic testing. A gene test\u00a0can also\u00a0be 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 neurologic examination can\u00a0<\/span>determine<\/span>\u00a0whether a person has symptoms typical of\u00a0<\/span>SCAR20<\/span>.\u00a0<\/span>A neurologist is often the most helpful specialist in recognizing symptoms and diagnosing the disease that causes Ataxia.<\/span>\u00a0There are several potential follow-up tests. MRI brain imaging\u00a0<\/span>is often<\/span>\u00a0used to confirm cerebellar atrophy<\/span>\u00a0or degeneration<\/span>.\u00a0<\/span>Clinical exams are performed to measure various\u00a0<\/span>movement, behavioral, and speech-related symptoms.<\/span>\u00a0<\/span>However, a specific diagnosis of\u00a0<\/span>SCAR20<\/span>\u00a0can only be made by a genetic test.\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\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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SCAR20 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 SCAR20.\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
\n\t\t\t\t\t\n\t\t\tNovember 29, 2019\t\t<\/span>\n\t\t\t\t<\/div>\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
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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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SCAR20 A collection of resources for individuals and families affected by Autosomal\u00a0Recessive Spinocerebellar\u00a0Ataxia 20 (SCAR20). 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