{"id":12989,"date":"2024-08-23T07:06:06","date_gmt":"2024-08-23T05:06:06","guid":{"rendered":"https:\/\/valintermed.com\/?p=12989"},"modified":"2024-08-23T07:06:06","modified_gmt":"2024-08-23T05:06:06","slug":"sindrom-shteynfelda","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/shteynfeld-syndrome\/","title":{"rendered":"Steinfeldt syndrome"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Steinert syndrome, also known as myotonic dystrophy, is an inherited disorder that belongs to a group of myopathies. The disease is characterized by progressive muscle weakness, myotonia (difficulty relaxing muscles after contraction), and multiple systemic abnormalities, including cardiac damage, endocrine disorders, and nervous system abnormalities. The syndrome is caused by a mutation in the DMPK gene located on chromosome 19, which leads to the accumulation of toxic, repetitive DNA sequences that cause cellular dysfunction. Steinert syndrome has a wide range of clinical manifestations and varies with age of onset, making it difficult to diagnose and treat.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 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\/shteynfeld-syndrome\/#%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\/shteynfeld-syndrome\/#%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\/shteynfeld-syndrome\/#%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\/shteynfeld-syndrome\/#%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\/shteynfeld-syndrome\/#%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\/shteynfeld-syndrome\/#%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\/shteynfeld-syndrome\/#%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\/shteynfeld-syndrome\/#%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\/shteynfeld-syndrome\/#%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\/shteynfeld-syndrome\/#%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>Steinfeldt syndrome was first described in 1909 by German neurologist Hugo Steinfeld, who noticed specific myasthenic symptoms in several members of a single family. Research into the hereditary factor of the disease was conducted throughout the 20th century, but the molecular basis of the condition was not established until 1992, when a team of scientists led by Jeff Technis described the DMPK gene as a gene locus involved in the development of the syndrome. Interestingly, the syndrome manifests itself in varying degrees of severity in members of the same family, indicating the phenomenon of genetic variability. The literature also contains references to the association of the syndrome with the phenomenon of &quot;darting eyes&quot; (ophtalmoplegia) and various endocrine disorders, such as insulin resistance and diabetes.<\/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>Steinfeldt syndrome occurs with a frequency of approximately 1 in 8,000-12,000 people in the population, making it a relatively rare disorder. Affected individuals are most often identified in the middle and older age group, although mild cases of the disease can be found in younger people. Epidemiological studies indicate that the disease is more common in males than in females, which may be due to differences in symptom severity and diagnostic strategies. In addition, significantly higher incidence rates have been reported in certain ethnic groups, highlighting the importance of studying genetic factors associated with the syndrome.<\/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>Steinfeldt syndrome is caused by a mutation in the DMPK gene, which is responsible for the synthesis of myotonin polypeptide. This gene is located on the long arm of chromosome 19 and contains repeating sequences (CTG repeats). In healthy people, the number of repeats does not exceed 35, while in patients with the syndrome, the number of repeats can reach several thousand. The mutation leads to a violation of transcription and translation, which causes functional changes in cells, especially in skeletal and cardiac muscles. All this makes further genetic research and testing important for preventive diagnostics not only for the patients themselves, but also for their relatives.<\/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>Among the main risk factors contributing to the development of Steinfeldt syndrome are the following:<\/p>\n<ul>\n<li>Hereditary predisposition: the disease has an autosomal dominant type of inheritance, which increases the risk of passing the mutation from parent to child.<\/li>\n<li>Parental age: Older paternal age plays a role in increasing the likelihood of passing on a mutation.<\/li>\n<li>Environmental factors: Certain physical and chemical factors, such as environmental pollution, may play a role in the development of diseases with a genetic predisposition.<\/li>\n<\/ul>\n<p>It is important to note that the syndrome often occurs in families where there are already cases of its manifestation, which also increases the likelihood of its detection in future generations.<\/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 Steinfeldt syndrome involves evaluation of clinical manifestations, family history, and genetic testing. The main symptoms of this disease include:<\/p>\n<ul>\n<li>Myotonia (difficulty relaxing muscles after contraction).<\/li>\n<li>Progressive muscle weakness, especially in the proximal muscles.<\/li>\n<li>Heart disease in the form of myocardiopathy.<\/li>\n<li>Endocrine disorders (eg, diabetes).<\/li>\n<li>Psychoneurological disorders.<\/li>\n<\/ul>\n<p>Laboratory tests may include electromyography, which will show characteristic myotonic discharges, and genetic testing to determine the structure of the DMPK gene. Radiologic tests, such as magnetic resonance imaging, may be useful to evaluate the muscles and heart. Differential diagnosis should be made with other myopathies and muscular dystrophies to exclude similar conditions.<\/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 of Steinfeldt syndrome is symptomatic and aimed at improving the quality of life of patients. Common approaches to treatment include:<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<ul>\n<li>Physical therapy to maintain mobility and prevent muscle degeneration.<\/li>\n<li>Pharmacological treatment, including muscle relaxants to relieve myotonia and antidepressants to correct psychoemotional disorders.<\/li>\n<li>Surgical treatment may be indicated in the presence of severe deformities or other complications associated with the disease.<\/li>\n<li>Oxuta axilites and other innovative treatments may be used in clinical trials.<\/li>\n<\/ul>\n<p>It is important that patients are monitored by specialists to adapt treatment depending on the progression of symptoms.<\/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>Clinical practice demonstrates the following drugs used to treat Steinfeldt syndrome:<\/p>\n<ul>\n<li>Benzodiazepines (eg, clonazepam) to reduce myotonia.<\/li>\n<li>Antidepressant drugs (eg, selective serotonin reuptake inhibitors).<\/li>\n<li>Digoxin for correction of cardiomyopathy.<\/li>\n<li>Muscle relaxants (eg, baclofen) to improve muscle tone.<\/li>\n<\/ul>\n<p>These drugs may reduce symptoms or improve the patient&#039;s overall condition, but require an individual approach and careful monitoring.<\/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 Steinfeldt syndrome includes regular examinations by specialists, ECG to assess cardiac function, and periodic assessment of psychoemotional status. The prognosis of the disease varies depending on the severity of symptoms and the timeliness of the prescribed treatment. Possible complications include cardiovascular disorders, respiratory failure, and the risk of diabetes.<\/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>Steinfeldt syndrome manifests itself differently depending on the age group. In younger patients, symptoms may manifest as mild myotonia and minor muscle weakness, while in older patients, more pronounced clinical manifestations are observed with severe forms of myodystrophy and cardiomopathy. Correction of treatment approaches should be carried out taking into account the patient&#039;s age and the stage of development of the syndrome.<\/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 is Steinfeldt syndrome?<\/strong><br \/>\n    It is an inherited disorder characterized by progressive muscle weakness and myotonia caused by a mutation in the DMPK gene.<\/li>\n<li><strong>What are the main symptoms of Steinfeldt syndrome?<\/strong><br \/>\n    The main symptoms include myotonia, progressive muscle weakness, cardiomycopathy and endocrine disorders.<\/li>\n<li><strong>What diagnostic methods are used to identify the syndrome?<\/strong><br \/>\n    Diagnosis includes clinical examination, family history, electromyography and genetic testing.<\/li>\n<li><strong>How is Steinfeldt syndrome treated?<\/strong><br \/>\n    Treatment is symptomatic and includes physical therapy, pharmacological treatment and, in some cases, surgery.<\/li>\n<li><strong>What is the prognosis for patients with Steinfeldt syndrome?<\/strong><br \/>\n    The prognosis varies depending on the severity of symptoms and the success of treatment, but complications may develop that require constant monitoring.<\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Steinert syndrome, also known as myotonic dystrophy, is a hereditary disorder that belongs to a group of myopathies. This disease is characterized by<\/p>","protected":false},"author":1,"featured_media":23005,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-12989","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\/12989","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=12989"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12989\/revisions"}],"predecessor-version":[{"id":13932,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/12989\/revisions\/13932"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media\/23005"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=12989"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=12989"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=12989"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}