[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-399888-105":59,"doc-detail-399888-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","tay-sachs-disease-autosomal-recessive-genetic-disorder-overview","Tay-Sachs Disease - Autosomal Recessive Genetic Disorder - Overview","","Tay-Sachs disease is an autosomal recessive, rare and usually fatal genetic disorder in children caused by deficiency of the lysosomal enzyme β-hexosaminidase A. Without proper breakdown of GM2 ganglioside, GM2 accumulates in nerve cell lysosomes, driving slow destruction of the central nervous system. The document summarizes its historical naming origins, risk concentrations in specific populations, main disease forms by age of onset, key symptoms, underlying enzyme/genetic causes, and inheritance probabilities for carrier parents.",{"@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/tay-sachs-disease-autosomal-recessive-genetic-disorder-overview/399888/",{"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/tay-sachs-disease-autosomal-recessive-genetic-disorder-overview/399888.png","ImageObject",300,407,{"name":92,"@type":93},"nayy☆","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-29","2026-09-27",true,{"@type":102,"interactionType":103,"userInteractionCount":52},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What causes Tay-Sachs disease at the molecular level?","Question",{"text":112,"@type":113},"It is caused by absence or significantly reduced activity of the lysosomal enzyme β-hexosaminidase A (Hexosaminidase A), leading to abnormal accumulation of GM2 ganglioside in nerve cells.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"Who is at higher risk for developing Tay-Sachs?",{"text":117,"@type":113},"European and Russian (Ashkenazi) Jews are at high risk, with stated carrier and disease rates in the US. Irish Americans have moderate risk, and other groups such as French Canadians and the Pennsylvania Dutch are mentioned as having higher risks than the general population.",{"name":119,"@type":110,"acceptedAnswer":120},"How is Tay-Sachs inherited and what is the risk if both parents are carriers?",{"text":121,"@type":113},"Tay-Sachs is autosomal recessive. If both parents are carriers, each pregnancy has a 25% chance that the child will be affected, while carriers typically have no adverse health effects.","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},399888,1790716449,{"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":52,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":145,"preview_page_count":4},962090893153,"https://ap-avatar.wpscdn.com/davatar_9964176cb1d06d4a9deccf72a44ae3dc","TAY-SACHS DISEASE-AUTOSOMAL RECESSIVE GENETIC DISORDER  \nTAY-SACHS DISEASE  \n• Tay-Sachs Disease is an autosomal recessive disease caused by a deficiency of β-Hexosaminidase A, the lysosomal enzyme that normally degrades GM2 ganglioside.  \n• As a result, GM2 ganglioside accumulates in the lysosomes of nerve cells.  \n• The disease is one of the family of lysosomal storage disorders known as GM2 gangliosides, each determined by the specific peptide (α and β subunits of β-hexosaminidase A and the GM2 activator protein) that is defective in the degradation of GM2 ganglioside.  \n• It is a rare fatal genetic disorder in children that causes the slow destruction of the central nervous system.  \nHISTORY  \n• The disease is named after Warren Tay (1843-1927), a British ophthalmologist who in 1881 described a patient with a cherry-red spot on the retina of the eye.  \n• It is also named after Bernard Sachs (1858-1944), a New York neurologist whose work several years later provided the first description of the cellular changes in Tay-Sachs Disease.  \n• Sachs also recognized the familial nature of the disorder, and, by observing numerous cases, he noted that most babies with Tay-Sachs Disease at that time were of Eastern European Jewish origin.  \n• Today, Tay-Sachs is found to occur among people of all backgrounds.  \nCherry red spot in the eye is the sign of Tay-Sachs disease  \nWHO IS AT RISK?  \n• European and Russian (Ashkenazi) Jews are at high risk for developing Tay-Sachs. 1 in 27 in the US are carriers.  \n• 1 out of every 3,600 babies born to Ashkenazi Jewish couples have the disease.  \n• 1 in 27 are carriers in the US.  \n• Irish Americans are at moderate risk, with 1 in 50 being carriers.  \n• French Canadians and the Pennsylvania Dutch are also mentionable ethnicities that are at higher risks for Tay-Sachs, whereas in the general population 1 in 250 people are carriers.  \n• High prevalence of GM2 gangliosidosis (12 cases of Tay-Sachs disease (infantile, 9; late G[M2-M3] gangliosidosis, 3) has been reported in children with neurological disorders from the southern region of India, consanguinity is more common [7] .  \n• Higher incidence of Tay-Sachs Disease was observed in the SC community of Gujarat. The mutation p. E462V was found in six unrelated families from Gujarat indicating a founder mutation in HEXA gene [5] .  \nTYPES OFTAY-SACHS DISEASE  \nThe form is determined by the age of the individual when symptoms first appear.  \nOnly one form of Tay-Sachs occurs in a family. If a child has Infantile, older siblings are not at risk  \nto develop Juvenile or Late Onset Tay-Sachs later in life.  \n1. Classic Infantile Tay-Sachs: Symptoms appear around 6 months of age. Parents may notice a reduction in vision and tracking and the baby does not outgrow normal startle response.  \n􀂃 Infantile Tay-Sachs children gradually regress, losing skills one by one. Over time they are unable to crawl, turn over, sit or reach out. Other symptoms include loss of coordination, progressive inability to swallow and difficulty breathing.  \n􀂃 By age 2 and beyond, most children experience recurrent seizures and eventually lose muscle function, mental function and sight, becoming mostly non-responsive to their environment.  \nTYPES OFTAY-SACHS DISEASE  \n2. Juvenile Tay-Sachs: Symptoms typically appear between ages 2 and 5, but can occur anytime during childhood.  \n􀂃 Early symptoms of Juvenile Tay-Sachs include lack of coordination or clumsiness and muscle weakness such as struggling with stairs. A child may also exhibit slurred speech, swallowing difficulties and muscle cramps.  \n􀂃 Over time, children with Juvenile Tay-Sachs slowly decline, losing their ability to walk, eat on their own and communicate. Children are prone to respiratory infections and often experience recurrent bouts of pneumonia. Many have seizures.  \n􀂃 Juvenile Tay-Sachs has a broad range of severity. In most cases, the earlier the first signs are observed, the more quickly the disease will progre","cbCaivUxmpsIqE7B","https://ap.wps.com/l/cbCaivUxmpsIqE7B","pdf",1436152,26,"English","# Tay-Sachs Disease - Autosomal Recessive Genetic Disorder\n## History\n## Who is at Risk?\n## Types of Tay-Sachs Disease\n## Causes\n## Inheritance","[{\"question\":\"What causes Tay-Sachs disease at the molecular level?\",\"answer\":\"It is caused by absence or significantly reduced activity of the lysosomal enzyme β-hexosaminidase A (Hexosaminidase A), leading to abnormal accumulation of GM2 ganglioside in nerve cells.\"},{\"question\":\"Who is at higher risk for developing Tay-Sachs?\",\"answer\":\"European and Russian (Ashkenazi) Jews are at high risk, with stated carrier and disease rates in the US. Irish Americans have moderate risk, and other groups such as French Canadians and the Pennsylvania Dutch are mentioned as having higher risks than the general population.\"},{\"question\":\"How is Tay-Sachs inherited and what is the risk if both parents are carriers?\",\"answer\":\"Tay-Sachs is autosomal recessive. If both parents are carriers, each pregnancy has a 25% chance that the child will be affected, while carriers typically have no adverse health effects.\"}]","Tay-Sachs Disease - Autosomal Recessive Genetic Disorder - Overview | PDF",1790504847,66]