{"id":17774,"date":"2018-10-17T21:44:36","date_gmt":"2018-10-17T13:44:36","guid":{"rendered":"https:\/\/hksnmd.org\/%e9%be%90%e8%b2%9d%e6%b0%8f%e7%97%87\/"},"modified":"2023-03-17T15:25:46","modified_gmt":"2023-03-17T07:25:46","slug":"pompe-disease","status":"publish","type":"page","link":"https:\/\/hksnmd.org\/en\/neuromuscular-diseases\/pompe-disease\/","title":{"rendered":"Pompe Disease"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"17774\" class=\"elementor elementor-17774 elementor-17506\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-61a5686d elementor-section-stretched elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"61a5686d\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;stretch_section&quot;:&quot;section-stretched&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-extended\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-66 elementor-top-column elementor-element elementor-element-29923c0f\" data-id=\"29923c0f\" data-element_type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-554199e3 elementor-widget elementor-widget-heading\" data-id=\"554199e3\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h4 class=\"elementor-heading-title elementor-size-default\">Multi-disciplinary Team in Treating Pompe Disease<\/h4>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-a3f80a7 elementor-widget elementor-widget-text-editor\" data-id=\"a3f80a7\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Pompe disease is a rare genetic disease. Due to the pathological change of chromosomes, patients lack a special enzyme so excess glycogen cannot be broken down and muscle function is gradually damaged. It is estimated that about one in 40,000 newborn infants has this disease worldwide, and more than 10 people have this disease in Hong Kong. Pompe disease rarely occurs, but there is still the possibility of being affected. If the public understand more about Pompe disease, the patients can be treated earlier.<br \/>\nPompe disease occurs at birth but its symptoms may not present immediately. Patients with Pompe disease can be divided into the infantile-onset type and late-onset type by onset age. The infantile-onset type is more severe. Such patients will be affected within 12 months after birth with symptoms of muscle weakness, cardiac hypertrophy and abnormal respiratory systems. The late-onset patients are mainly young and middle-aged people. Patients experiencing an episode will have muscle weakness, especially in proximal muscles like lower limbs, waist and neck. These have more apparent symptoms, thus possibly leading to dysphagia and even worse complications like heart failure and lung function decline.<br \/>\nFor diagnosis of Pompe disease, adults can be examined by blood test. Then they can be examined with electromyography or receive minimally invasive surgery to collect skin tissue for diagnostic assistance.<br \/>\nGenerally, the treatment for Pompe disease requires a multi-disciplinary team involving a neurologist, respiratory specialist, cardiologist, dietitians, physiotherapists and other specialists. In addition, applicable patients can be treated with enzyme replacement therapy. Regular injection with enzymes can slow disease progression.<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-3a3528e elementor-align-center elementor-widget elementor-widget-global elementor-global-28736 elementor-global-28427 elementor-widget-button\" data-id=\"3a3528e\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-md\" href=\"https:\/\/hksnmd.org\/en\/patient-and-family-guidance\/\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t<span class=\"elementor-button-icon\">\n\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-arrow-circle-left\" viewBox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M256 504C119 504 8 393 8 256S119 8 256 8s248 111 248 248-111 248-248 248zm28.9-143.6L209.4 288H392c13.3 0 24-10.7 24-24v-16c0-13.3-10.7-24-24-24H209.4l75.5-72.4c9.7-9.3 9.9-24.8.4-34.3l-11-10.9c-9.4-9.4-24.6-9.4-33.9 0L107.7 239c-9.4 9.4-9.4 24.6 0 33.9l132.7 132.7c9.4 9.4 24.6 9.4 33.9 0l11-10.9c9.5-9.5 9.3-25-.4-34.3z\"><\/path><\/svg>\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Back to Index<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-2aa6d960 elementor-widget elementor-widget-spacer\" data-id=\"2aa6d960\" data-element_type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element 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Due to the pathological change of chromosomes, patients lack a special enzyme so excess glycogen cannot be broken down and muscle function is gradually damaged. 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