{"id":12936,"date":"2023-11-10T13:44:04","date_gmt":"2023-11-10T17:44:04","guid":{"rendered":"https:\/\/afcomunicacion.com\/uncategorized\/spinal-muscular-atrophy-the-second-genetic-cause-of-infant-death\/"},"modified":"2023-11-10T13:44:04","modified_gmt":"2023-11-10T17:44:04","slug":"spinal-muscular-atrophy-the-second-genetic-cause-of-infant-death","status":"publish","type":"post","link":"https:\/\/afcomunicacion.com\/en\/press-room\/spinal-muscular-atrophy-the-second-genetic-cause-of-infant-death\/","title":{"rendered":"Spinal Muscular Atrophy: the second genetic cause of infant death"},"content":{"rendered":"\n<ul class=\"wp-block-list\">\n<li><em>Spinal muscular atrophy is a rare and serious genetic neuromuscular disease and the second genetic cause of infant death; early diagnosis is key to treatment.<\/em><\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignleft size-large is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"804\" src=\"https:\/\/afcomunicacion.com\/wp-content\/uploads\/2023\/11\/problema-columna-vertebral-mujer-dolor-espalda-dolor-muscular-articular-ejercicio-entrenamiento-anatomia-salud-deportiva-radiografia-esqueleto-nina-lesion-accidente-osteoporosis-1024x804.jpg\" alt=\"Spinal Muscular Atrophy\" class=\"wp-image-8688\" style=\"aspect-ratio:1.2736318407960199;width:372px;height:auto\" srcset=\"https:\/\/afcomunicacion.com\/wp-content\/uploads\/2023\/11\/problema-columna-vertebral-mujer-dolor-espalda-dolor-muscular-articular-ejercicio-entrenamiento-anatomia-salud-deportiva-radiografia-esqueleto-nina-lesion-accidente-osteoporosis-1024x804.jpg 1024w, https:\/\/afcomunicacion.com\/wp-content\/uploads\/2023\/11\/problema-columna-vertebral-mujer-dolor-espalda-dolor-muscular-articular-ejercicio-entrenamiento-anatomia-salud-deportiva-radiografia-esqueleto-nina-lesion-accidente-osteoporosis-300x236.jpg 300w, https:\/\/afcomunicacion.com\/wp-content\/uploads\/2023\/11\/problema-columna-vertebral-mujer-dolor-espalda-dolor-muscular-articular-ejercicio-entrenamiento-anatomia-salud-deportiva-radiografia-esqueleto-nina-lesion-accidente-osteoporosis-768x603.jpg 768w, https:\/\/afcomunicacion.com\/wp-content\/uploads\/2023\/11\/problema-columna-vertebral-mujer-dolor-espalda-dolor-muscular-articular-ejercicio-entrenamiento-anatomia-salud-deportiva-radiografia-esqueleto-nina-lesion-accidente-osteoporosis-1536x1206.jpg 1536w, https:\/\/afcomunicacion.com\/wp-content\/uploads\/2023\/11\/problema-columna-vertebral-mujer-dolor-espalda-dolor-muscular-articular-ejercicio-entrenamiento-anatomia-salud-deportiva-radiografia-esqueleto-nina-lesion-accidente-osteoporosis-2048x1609.jpg 2048w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><figcaption class=\"wp-element-caption\">Spinal Muscular Atrophy<\/figcaption><\/figure>\n<\/div>\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\"><strong>Santo Domingo, November:<\/strong> <strong><mark class=\"has-inline-color has-vivid-red-color\">Spinal muscular atrophy (SMA)<\/mark><\/strong> is a neuromuscular disease of genetic origin. It is considered a rare and serious disease, mainly characterised by a progressive loss of muscle strength and deterioration of lung function due to the degeneration of motor neurons in the spinal cord.<\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\">The incidence of <strong><mark class=\"has-inline-color has-vivid-red-color\">SMA<\/mark><\/strong> is 1 in every 6,000\u201310,000 live births; 1 in 40 people are carriers, and among Hispanics the frequency is 1:77.<\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\">This disease is the second most common fatal autosomal recessive disease, meaning both parents must carry the gene responsible for it. There are different types of <strong><mark class=\"has-inline-color has-vivid-red-color\">SMA<\/mark><\/strong> depending on the age at which symptoms start and the gross motor milestones reached. <mark class=\"has-inline-color has-vivid-red-color\">In type I, children can hold up their heads; in type II, they can sit; in type 3, they can walk independently but may later lose this ability; and type 4 begins in adulthood.<\/mark><\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\"><mark class=\"has-inline-color has-vivid-red-color\">In the Dominican Republic, the vast majority of patients have <strong>SMA type 2.<\/strong><\/mark><\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\"><strong>Early detection and treatment<\/strong><\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\">Early, timely detection matters because of the treatment options available: the earlier the diagnosis is made and therapies begin, the better the outcomes for patients&#8217; quality of life.&nbsp;Innovative drugs have been developed that change the natural course of the disease.&nbsp;<\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\">According to <strong><mark class=\"has-inline-color has-vivid-red-color\">Dr. Mar\u00eda G\u00f3mez Pe\u00f1a, a paediatric neurologist,<\/mark><\/strong> each child has different symptoms, but there are early signs to watch for, for example:<\/p>\n\n\n\n<ul class=\"has-black-color has-text-color wp-block-list\">\n<li>Children with suspected early-onset <strong><mark class=\"has-inline-color has-vivid-red-color\">SMA<\/mark><\/strong> (before 6 months) often have difficulty holding up their heads, appear floppy (hypotonia) and weak, and show a characteristic sign: continuous trembling movement of the tongue (tongue fasciculations). This history and clinical evidence call for genetic testing.<\/li>\n<\/ul>\n\n\n\n<ul class=\"has-black-color has-text-color wp-block-list\">\n<li>Children aged 6 to 18 months manage to sit but do not walk, and as the disease progresses they lose the ability to sit on their own for no apparent reason, together with a fine tremor that parents describe as nervousness and&nbsp;trembling of the tongue.&nbsp;<\/li>\n<\/ul>\n\n\n\n<ul class=\"has-black-color has-text-color wp-block-list\">\n<li>Young children who are already walking and begin to have difficulty, such as frequent tripping, sudden falls, trouble getting up from the floor and climbing stairs, or holding and carrying objects easily, may have SMA.<\/li>\n<\/ul>\n\n\n\n<ul class=\"has-black-color has-text-color wp-block-list\">\n<li>In adolescence, changes in the spine can be seen and scoliosis often develops.&nbsp;<\/li>\n<\/ul>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\">These signs are very important in raising clinical suspicion of the disease, especially in children with no history of problems during pregnancy or birth.<\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\">In the Dominican Republic, the most common reason for consultation is delay in reaching age-appropriate motor milestones, followed by distal hand tremor and loss of motor milestones, <strong><mark class=\"has-inline-color has-vivid-red-color\">according to Dr. G\u00f3mez Pe\u00f1a.<\/mark><\/strong><\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\">To determine the type of <strong><mark class=\"has-inline-color has-vivid-red-color\">SMA<\/mark><\/strong>, the age at which symptoms started and the motor function reached so far are taken into account.<\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\"><strong><mark class=\"has-inline-color has-vivid-red-color\">SMA type I:<\/mark><\/strong> known as Werdnig\u2013Hoffmann disease, this is the most common and severe type. It begins in the first months of life. Patients can hold up their heads but cannot sit without support; without specific treatment they do not survive beyond 2 years.<\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\"><strong><mark class=\"has-inline-color has-vivid-red-color\">SMA type II: <\/mark><\/strong>symptoms appear between 6 and 18 months of age. Children can sit without support and some can stand without support, but they cannot walk independently. They have muscle weakness and may develop scoliosis. They reach adulthood.<\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\"><strong><mark class=\"has-inline-color has-vivid-red-color\">SMA type III: <\/mark><\/strong>known as Kugelberg\u2013Welander disease. It is less severe and starts after 18 months of age. Patients can walk but have frequent falls, weakness and loss      of the ability to walk. They reach adulthood.<\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\"><strong><mark class=\"has-inline-color has-vivid-red-color\">SMA type IV:<\/mark><\/strong> begins in adulthood and has a milder course; patients achieve and keep independent walking, though some lose it in their third or fourth decade of life. <\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\">Currently, a blood test is recommended to diagnose the disease, to determine whether the child lacks the <strong>SMN1 gene and how many copies of SMN2 they have.<\/strong> <strong><mark class=\"has-inline-color has-vivid-red-color\">Motor neurons<\/mark><\/strong> need a protein called <strong>SMN (Survival Motor Neuron) <\/strong>to work properly. When both parents pass on a mutation or deletion of the <strong>SMN1 gene<\/strong> to their child, the child&#8217;s body cannot make this protein, and the motor milestones reached will depend on the number of copies of the <strong>SMN2 gene. <\/strong><\/p>\n\n\n\n<p class=\"has-black-color has-text-color wp-block-paragraph\">&#8220;Parents play a crucial role in the early detection of SMA, as they can contribute significantly to early diagnosis by closely observing their children&#8217;s development and any changes in their health. Familiarity among health staff and therapists with the initial signs, such as muscle weakness, hypotonia, distal tremor and fasciculations, can facilitate early intervention, increasing the chances of comprehensive management and improving treatment outcomes. Open communication between parents and health professionals is needed to ensure children&#8217;s well-being,&#8221; <strong><mark class=\"has-inline-color has-vivid-red-color\">added the specialist.<\/mark><\/strong><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\" \/>\n\n\n\n<p class=\"wp-block-paragraph\"><em>Find out more about <a href=\"https:\/\/afcomunicacion.com\/nosotros\/\"><mark style=\"color:#3db5c8\" class=\"has-inline-color\"><span style=\"text-decoration: underline\">AF Comunicaci\u00f3n Estrat\u00e9gica<\/span><\/mark><\/a><mark style=\"color:#1e5269\" class=\"has-inline-color\"><a href=\"https:\/\/afcomunicacion.com\/nosotros\/\"> <\/a>and <\/mark><a href=\"https:\/\/afcomunicacion.com\/nuestros-clientes\/\"><mark style=\"color:#3db5c8\" class=\"has-inline-color\"><span style=\"text-decoration: underline\">its clients<\/span><\/mark><\/a><\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Santo Domingo, November: Spinal muscular atrophy (SMA) is a neuromuscular disease of genetic origin. It is considered a rare and serious disease, mainly characterised by a progressive loss of muscle strength and deterioration of lung function due to the degeneration of motor neurons in the spinal cord. The incidence of SMA is 1 in every [&hellip;]<\/p>\n","protected":false},"author":12,"featured_media":8688,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[486],"tags":[3328,3329,3330,3331,3332],"class_list":["post-12936","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-press-room","tag-ame-en","tag-ame-tipo-2-en","tag-gen-smn1-en","tag-smn2-en","tag-trofia-muscular-espinal-ame-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v28.3 (Yoast SEO v28.3) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Spinal Muscular Atrophy: the second genetic cause of infant death - AF Comunicaci\u00f3n Estrat\u00e9gica<\/title>\n<meta name=\"description\" content=\"Spinal muscular atrophy (SMA) is a neuromuscular disease of genetic origin and is considered a rare and serious disease.\" \/>\n<meta name=\"robots\" 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