{"id":44,"date":"2019-05-31T23:02:43","date_gmt":"2019-05-31T20:02:43","guid":{"rendered":"https:\/\/cholesterol-lowering-info.com\/blog\/?p=44"},"modified":"2019-05-31T23:10:19","modified_gmt":"2019-05-31T20:10:19","slug":"gm2-gangliosidosis","status":"publish","type":"post","link":"https:\/\/cholesterol-lowering-info.com\/blog\/2019\/05\/31\/gm2-gangliosidosis\/","title":{"rendered":"GM2 Gangliosidosis"},"content":{"rendered":"<h2>What is Gangliosidosis GM2?<\/h2>\n<p><strong>GM2 gangliosidosis<\/strong> is a progressive neurodegenerative disease from the group of gangliosidosis, which in its classic infantile form usually leads to death at the age of 2\u20133 years.<\/p>\n<p>The incidence is much higher among Ashkenazi Jews (Eastern Europeans).<\/p>\n<h2>Causes of Gangliosidosis GM2<\/h2>\n<p>Hexoaminidase A and \/ or B deficiency, as well as the hexoaminidase activation factor. The type of inheritance of all types is autosomal recessive.<\/p>\n<h2>Pathogenesis during Gangliosidosis GM2<\/h2>\n<p>There is a three-pointed model explaining the molecular genetic basis of GM2 gangliosidosis. Mutation of the hexosaminidase A gene (a-locus of chromosome 15q) underlies Tay-Sachs disease and juvenile GM2-gangliosidosis. The mutation in the b-locus of the 5th chromosome is manifested by the deficiency of hexosaminidase A and B and causes GM2-gangliosidosis type II (Sandhoff&#8217;s disease).<\/p>\n<h2>Symptoms of Gangliosidosis GM2<\/h2>\n<p>There are the following options for the course of the disease:<\/p>\n<ul>\n<li>Option 0 (268800, r) is Sandhoff&#8217;s disease. Clinically: weakness, muscle atrophy, startle response to sound, progressive psychomotor deterioration, cerebellar ataxia, dysarthria, fasciculation, pyramidal insufficiency, increased reflexes, orthostatic hypotension, macrocephaly, puppet face, early blindness, cherry-red spot on the ocular base, macroglossia, cardiomegaly, high lumbar hump, chronic diarrhea, episodic abdominal pain, hepatosplenomegaly, impaired sweating, urinary incontinence.<\/li>\n<li>Option B (* 272800, r) &#8211; Tei \u2013 Sachs disease of type 1. Clinically: the response to sound in the form of startles; muscular hypotonia, later turning into hypertonus, apathy, psychomotor delay, convulsive seizures, paralysis, dementia, a cherry-red spot on the fundus, surrounded by a light gray area; blindness, beginning in early childhood, death before the age of 5.<\/li>\n<li>Option AB (* 272750, r) &#8211; Tay \u2013 Sachs disease of type 2.<\/li>\n<li>Option A (M) B (230710, r) &#8211; Thay \u2013 Sachs disease is juvenile. Beginning at the age of 2 years, death by 8 years, delayed motor functions, mental development, muscle atrophy, spasticity, delayed speech development.<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>What is Gangliosidosis GM2? GM2 gangliosidosis is a progressive neurodegenerative disease from the group of gangliosidosis, which in its classic infantile form usually leads to death at the age of 2\u20133 years. The incidence is<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"_links":{"self":[{"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/posts\/44"}],"collection":[{"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/comments?post=44"}],"version-history":[{"count":1,"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/posts\/44\/revisions"}],"predecessor-version":[{"id":45,"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/posts\/44\/revisions\/45"}],"wp:attachment":[{"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/media?parent=44"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/categories?post=44"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cholesterol-lowering-info.com\/blog\/wp-json\/wp\/v2\/tags?post=44"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}