{"id":13051,"date":"2024-08-23T06:05:07","date_gmt":"2024-08-23T04:05:07","guid":{"rendered":"https:\/\/valintermed.com\/?p=13051"},"modified":"2024-08-23T06:05:07","modified_gmt":"2024-08-23T04:05:07","slug":"spinalnaya-myshechnaya-atrofiya-tip-3","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/","title":{"rendered":"Spinal muscular atrophy type 3"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Spinal muscular atrophy type 3 (SMA type 3) is a hereditary disease characterized by progressive atrophy of skeletal muscles, which leads to impaired motor function. The main cause of this disease is the lack of a specific protein, smutin, which is necessary for the functioning of motor neurons in the spinal cord. Clinically, SMA type 3 usually manifests itself in childhood or adolescence, when patients begin to notice difficulties in moving, muscle weakness, and fatigue during physical activity. This chronic but slowly progressive disease can significantly reduce the quality of life, although most patients retain the ability to move independently.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of medications used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-myocardial-atrophy-type-3\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The first stage of studying spinal muscular atrophy dates back to the end of the 19th century, when in 1891 the French physician Jules Jet\u00e9n\u00e9a defined spinal muscular atrophy as a separate disease. However, it was not until 1956 that it was established that SMA is caused by genetic mutations. In 1995, the SMN1 gene responsible for the production of smuthin was identified, which was a significant breakthrough in understanding the mechanism of the disease. Given the progress in genetics, in the last two decades, scientists have focused on developing new treatments, including gene therapy, which opens up new horizons for patients suffering from this form of atrophy.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Spinal muscular atrophy type 3 has a fairly high prevalence among hereditary diseases, especially among the white population. It is taken into account that its frequency is approximately 1 in 6,000-10,000 newborns. Statistics show that with one carrier of the SMN1 gene, the probability of having a child with SMA type 3 is 25%. According to various population studies, this disease manifests itself in both sexes with equal frequency, but depending on the genetic background, some ethnic groups may demonstrate higher rates.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Spinal muscular atrophy type 3 is caused by mutations in the SMN1 gene, which is located on chromosome 5. There are different types of mutations, including deletions, point mutations, and other genetic changes. The presence of a mutation in at least one SMN1 allele is required for the disease to manifest, but most cases are characterized by homozygous mutations. Research has also found that specific mutations can occur in breeding groups, highlighting the complexity of inheritance and the variety of manifestations of this disease.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Spinal muscular atrophy type 3 is mostly a hereditary disease and the risk factors for this condition are limited. The main risk factors include:<\/p>\n<ul>\n<li>Heredity - the presence of parents who are carriers of the SMN1 gene.<\/li>\n<li>Genetic predisposition - the presence of other diseases associated with abnormalities in the genes of spinal muscular atrophy.<\/li>\n<li>Ethnic groups - some populations have a higher frequency of inherited genetic mutations.<\/li>\n<\/ul>\n<p>It is important to note that, unlike other diseases, the influence of external physical or chemical factors on the risk of developing spinal muscular atrophy has not been established.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Diagnosis of spinal muscular atrophy type 3 is based on a comprehensive analysis of the clinical picture, laboratory tests and radiological examinations. The main symptoms to pay attention to include:<\/p>\n<ul>\n<li>Muscle weakness, especially in the lower limbs.<\/li>\n<li>Impaired coordination of movements.<\/li>\n<li>Difficulty walking or standing.<\/li>\n<\/ul>\n<p>Laboratory tests include genetic testing for mutations in the SMN1 gene. Radiological tests, such as MRI, may be used to rule out other diseases of the nervous system. The differential diagnosis should consider other causes of muscle weakness, including myasthenia gravis, dystrophies, and neuromuscular diseases.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Treatment for spinal muscular atrophy type 3 consists of several components. General therapy is aimed at relieving symptoms and restoring lost functions:<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<ul>\n<li>Pharmacological treatment - classical drugs such as antidepressants and muscle relaxants can be used to manage symptoms.<\/li>\n<li>Physical therapy - Regular exercise helps maintain muscle strength and coordination.<\/li>\n<li>Surgical treatment is possible in cases where correction of skeletal anomalies is necessary.<\/li>\n<li>Gene therapies - New treatments such as Zolgensma are gaining attention due to their ability to deliver an active SMN1 gene.<\/li>\n<\/ul>\n<p>Treatment requires an individual approach and should be carried out taking into account the patient&#039;s condition.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of medications used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Several medications are currently used to treat spinal muscular atrophy type 3, including:<\/p>\n<ul>\n<li>Nusinersen (Spinraza) - modifies SMN2 mRNA splicing, increasing smutin levels.<\/li>\n<li>Zolgensma is a one-time gene therapy that replaces the defective SMN1 gene.<\/li>\n<li>Risdiplam is an oral drug that also aims to improve smuthin production.<\/li>\n<\/ul>\n<p>These drugs can significantly improve the functional status of patients.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Monitoring of patients with spinal muscular atrophy type 3 should include regular examinations and assessment of disease progress. Control steps should include:<\/p>\n<ul>\n<li>Regular examination for changes in muscle strength and function.<\/li>\n<li>Evaluation of pulmonary ventilation and respiratory system functions.<\/li>\n<li>Psychological support and social conditions for patients and their families.<\/li>\n<\/ul>\n<p>Prognosis depends on the severity of the disease and the quality of timely medical care. Possible complications may include respiratory infections and postural disorders, which makes regular monitoring extremely important.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Spinal muscular atrophy type 3 most often appears in childhood or adolescence. In children, the disease is characterized by either motor delays or decreased strength in the limbs. Unlike more severe forms of SMA, the disease can progress slowly, with most patients reaching adulthood. However, additional mobility and health problems may arise in later years. Adult patients may suffer from chronic fatigue and a gradual loss of muscle strength as the disease progresses.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What are the main symptoms of spinal muscular atrophy type 3?<\/strong> The main symptoms include muscle weakness, especially in the lower limbs, difficulty with coordination, and fatigue with physical activity.<\/li>\n<li><strong>How is spinal muscular atrophy type 3 diagnosed?<\/strong> Diagnosis involves clinical evaluation, genetic testing for mutations in the SMN1 gene, and exclusion of other diseases with similar symptoms.<\/li>\n<li><strong>Is there an effective treatment for this disease?<\/strong> Yes, new treatments such as gene therapy have greatly improved the condition of patients. In addition, physical therapy and medications are used to relieve symptoms.<\/li>\n<li><strong>What is the prognostic guarantee for patients with spinal muscular atrophy type 3?<\/strong> The prognosis depends on the perception of the disease, but most patients are able to maintain their mobility and quality of life for many years.<\/li>\n<li><strong>What do you need to know about supporting patients with SMA type 3?<\/strong> It is important to provide a comprehensive approach, including physical rehabilitation, psychological support and impact on the social needs of the patient and his family.<\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Spinal muscular atrophy type 3 (SMA type 3) is an inherited disorder characterized by progressive wasting of skeletal muscles, resulting in<\/p>","protected":false},"author":1,"featured_media":23271,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-13051","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13051","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=13051"}],"version-history":[{"count":2,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13051\/revisions"}],"predecessor-version":[{"id":13870,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13051\/revisions\/13870"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/23271"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=13051"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=13051"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=13051"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}