[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-639063-105":59,"doc-detail-639063-en":130},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":123,"head_meta":125,"extra_data":127,"updated_unix":129},105,"en","leigh-syndrome-description-frequency-causes","Leigh syndrome - Description, Frequency, Causes","","Leigh syndrome is a severe neurological disorder that typically presents within the first year of life, with progressive loss of mental and movement abilities that often leads to death within two to three years, commonly from respiratory failure. Early signs can include vomiting, diarrhea, dysphagia, and poor weight gain, followed by muscle and movement abnormalities such as hypotonia, dystonia, ataxia, and peripheral neuropathy. MRI shows characteristic brain lesions, and symptoms can include ophthalmoparesis, nystagmus, optic atrophy, cardiomyopathy, and elevated lactate.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/leigh-syndrome-description-frequency-causes/639063/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/leigh-syndrome-description-frequency-causes/639063.png","ImageObject",300,407,{"name":92,"@type":93},"Riley","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-12","2026-10-22",true,{"@type":102,"interactionType":103,"userInteractionCount":29},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What are the typical early symptoms of Leigh syndrome in infancy?","Question",{"text":112,"@type":113},"Early signs often include vomiting, diarrhea, and difficulty swallowing (dysphagia), which can disrupt eating. These issues commonly lead to inability to grow and gain weight, along with severe muscle and movement problems.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What findings characterize Leigh syndrome on MRI?",{"text":117,"@type":113},"MRI reveals characteristic lesions in regions such as the basal ganglia, cerebellum, and brainstem. Lesions are often accompanied by loss of myelin around nerves (demyelination).",{"name":119,"@type":110,"acceptedAnswer":120},"What genetic mechanisms can cause Leigh syndrome?",{"text":121,"@type":113},"Leigh syndrome can result from variants in more than 110 genes, usually affecting mitochondrial energy production pathways. Some cases involve mitochondrial DNA (mtDNA) variants, and disruptions in complexes I or IV are common, including variants in SURF1.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},639063,1793051825,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":29,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":39,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":46,"preview_page_count":4},1374391975076,"https://ap-avatar.wpscdn.com/avatar/14000253ca4ec9f6853?x-image-process=image/resize,m_fixed,w_180,h_180&k=1783305029341752051","Leigh syndrome  \nDescription  \nLeigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A small number of individuals do not develop symptoms until adulthood or have symptoms that worsen more slowly.  \nThe first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia), which disrupts eating. These problems often result inan inability to grow and gain weight at the expected rate (faltering weight) . Severe muscle and movement problems are common in Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia) . Loss of sensation and weakness in the limbs (peripheral neuropathy), common in people with Leigh syndrome, may also make movement difficult.  \nSeveral other features may occur in people with Leigh syndrome. Many individuals with this condition develop weakness or paralysis of the muscles that move the eyes ( ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information from the eyes to the brain (optic atrophy) . Severe breathing problems are common, and these problems can worsen until they cause acute respiratory failure. Some affected individuals develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. In addition, a substance called lactate can build up in the body, and excessive amounts are often found in the blood, urine, or the fluid that surrounds and protects the brain and spinal cord (cerebrospinal fluid) of people with Leigh syndrome.  \nThe signs and symptoms of Leigh syndrome are caused in part by patches of damaged tissue (lesions) that develop in the brains of people with this condition. A medical procedure called magnetic resonance imaging (MRI) reveals characteristic lesions in certain regions of the brain. These regions include the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates movement; and the brainstem, which connects the brain to the spinal cord and controls functions such as swallowing and breathing. The brain lesions are often accompanied by loss of the myelin coating around nerves (demyelination), which reduces the ability of the nerves to activate muscles used for movement or relay sensory information from the  \nReprinted from MedlinePlus Genetics ([https://medlineplus.gov/genetics/](https://medlineplus.gov/genetics/)) 1  \nrest of the body back to the brain.  \nFrequency  \nLeigh syndrome affects at least 1 in 40,000 newborns. The condition is more common in certain populations. For example, the condition occurs in approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of Quebec, Canada and in approximately 1 in 1,700 individuals on the Faroe Islands.  \nCauses  \nLeigh syndrome can be caused by variants (also called mutations) in one of more than  \n110 different genes. In humans, most genes are found in DNA in the cell's nucleus, called nuclear DNA. However, some genes are found in DNA in specialized structures in the cell called mitochondria. This type of DNA is known as mitochondrial DNA ( mtDNA) . While most people with Leigh syndrome have a variant in nuclear DNA, about  \n20 percent have a variant in mtDNA.  \nMost genes associated with Leigh syndrome are involved in the process of energy production in mitochondria. Mitochondria use oxygen to convert the energy from food into a form cells can use through a process called oxidative phosphorylation. Five protein complexes, made up of several proteins each, are involved in this process. The complexes are named complex I, complex II, ","cbCaicnopARWMHh3","https://ap.wps.com/l/cbCaicnopARWMHh3","pdf",66250,"English","# Description\n# Frequency\n# Causes","[{\"question\":\"What are the typical early symptoms of Leigh syndrome in infancy?\",\"answer\":\"Early signs often include vomiting, diarrhea, and difficulty swallowing (dysphagia), which can disrupt eating. These issues commonly lead to inability to grow and gain weight, along with severe muscle and movement problems.\"},{\"question\":\"What findings characterize Leigh syndrome on MRI?\",\"answer\":\"MRI reveals characteristic lesions in regions such as the basal ganglia, cerebellum, and brainstem. Lesions are often accompanied by loss of myelin around nerves (demyelination).\"},{\"question\":\"What genetic mechanisms can cause Leigh syndrome?\",\"answer\":\"Leigh syndrome can result from variants in more than 110 genes, usually affecting mitochondrial energy production pathways. Some cases involve mitochondrial DNA (mtDNA) variants, and disruptions in complexes I or IV are common, including variants in SURF1.\"}]","Leigh syndrome - Description, Frequency, Causes | PDF",1792701483]