1<!DOCTYPE html> 2<html lang="en" dir="ltr"> 3<head> 4 <meta charset="utf-8"/> 5 <meta name="viewport" content="width=device-width, initial-scale=1, shrink-to-fit=no"> 6 <title>Spinal Muscular Atrophy - What Is It?</title> 7 <meta name="description" content="Spinal muscular atrophy (SMA Type 1 and SMA Type 2) is a rare progressive, inherited monogenic disease where fast diagnosis is vital. Information for HCPs."> 8 <meta name="keywords" content="SMA, SMA type 1, SMA type 2, SMA baby, Spinal muscular atrophy"> 9 <!-- Global site tag (gtag.js) - Google Ads: 489268377 -->
vendor: 68 bytes, lines 9-10
9 10 <script async src="https://www.googletagmanager.com/gtag/js?id=
10AW-489268377
vendor: 79 bytes, lines 10-11
10"></script> 11 <script async src="https://www.googletagmanager.com/gtag/js?id=
11G-9SZ43TLTMP
vendor: 16 bytes, lines 11-12
11"></script> 12
12<script> 13
vendor: 152 bytes, lines 13-17
13window.dataLayer = window.dataLayer || []; 14 function gtag(){dataLayer.push(arguments);} 15 gtag('js', new Date()); 16 17 gtag('config', '
17AW-489268377
vendor: 13 bytes, lines 17-19
17'); 18 19
19<!-- Event snippet for Page view conversion page --> 20 gtag('event', 'conversion', {'send_to': 'AW-489268377/iQohCMnIleYBEJnJpukB'}); 21 gtag('config', 'G-9SZ43TLTMP'); 22 </script>
22 23 <!-- Google Tag Manager --> 24
24<script>
vendor: 375 bytes, lines 24-28
24(function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start': 25 new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0], 26 j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src= 27 'https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f); 28 })(window,document,'script','dataLayer','
28GTM-KNBP2W5
vendor: 3 bytes, line 28
28');
28</script>
28 29 <!-- End Google Tag Manager --> 30 <meta name="google-site-verification" content="XqUaUutqW3xRkiRRgVO9mL6cTWyYE-SULPmKhbCCvGk" /> 31<link rel="icon" href="/favicon-32.png" sizes="32x32"> 32
32<script type="text/javascript" src="https://cdn.cookielaw.org/consent/1c9a0971-ae09-44ce-9d7e-fa9b5498edc0/OtAutoBlock.js" ></script>
vendor: 1 bytes, line 32
32
33<script src="https://cdn.cookielaw.org/scripttemplates/otSDKStub.js" data-document-language="true" type="text/javascript" charset="UTF-8" data-domain-script="1c9a0971-ae09-44ce-9d7e-fa9b5498edc0" ></script>
33 34 <link rel="preload" href="/themes/sma/fonts/ArchivoNarrow-BoldItalic.ttf" as="font" type="font/truetype" /> <link rel="preload" href="/themes/sma/fonts/Montserrat-VariableFont_wght.ttf" as="font" type="font/truetype" /> 35 <link rel="stylesheet" href="/themes/sma/css/video-js.css" /> 36 <link rel="preload" as="font" href="/themes/sma/fonts/Montserrat-VariableFont_wght.ttf" type="font/truetype" /> 37 <link rel="preload" as="font" href="/themes/sma/fonts/Montserrat-Italic-VariableFont_wght.ttf" type="font/truetype" /> 38 <link rel="stylesheet" href="/themes/sma/css/style-v3.css?d=202404291609" /> 39</head> 40<body data-lang="en"> 41 <div class="container px-0"> 42 <nav class="navbar navbar-default navbar-fixed-top bg-sma-black-10 hcp" role="navigation"> 43 <div class="container"> 44 <p class="usage">This site is intended for a global Health Care Professional (HCP) audience only</p> 45 <div class="navbar-nav ml-auto hide-ipad"> 46 <span class="pull-right"><a class="hcp-link" href="#" data-show="#hcpNavigation"><span class="triangle-right"></span> Go to Caregiver site</a> | </span> 47 <div class="dropdown-language btn-group dropdown pull-right"> 48 <button class="btn-default btn dropdown-toggle lang-toggle" hreflang="en-EU" type="button" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false"><span class="sr-text">Select a country or region</span> <span class="caret"> </span><span class="flag global"></span></button> 49 <ul class="dropdown-menu lang-menu" role="menu"> 50 51 <li hreflang="es-ar"> 52 <a href="https://www.signosame.com.ar">Argentina (Español)<span class="flag language-link " data-lang="es-ar" title="es-AR"></span></a> 53 </li> 54 55 56 <li hreflang="hr"> 57 <a href="https://sma.hr">Croatia (Hrvatski)<span class="flag language-link" data-lang="hr" title="HR"></span></a> 58 </li> 59 60 <li hreflang="cz"> 61 <a href="https://www.spinalnisvalovaatrofie.cz/vyvoj-ditete-se-svalovou-atrofii">Czechia (ÄeÅ¡tina)<span class="flag language-link " data-lang="cz" title="CZ"></span></a> 62 </li> 63 64 65 66 67 68 <li hreflang="en-EU"> 69 <a href="https://www.signsofsma.com/hcp-what-is-spinal-muscular-atrophy">Global (English)<span class="flag global language-link active-language " data-lang="en-EU" title="EU"></span></a> 70 </li> 71 72 73 <li hreflang="hu"> 74 <a href="https://www.signsofsma.com/hu">Hungary (Magyar)<span class="flag language-link " data-lang="hu" title="HU"></span></a> 75 </li> 76 77 <li hreflang="en-IE"> 78 <a href="https://www.signsofsma.com/ie">Ireland (English)<span class="flag language-link " data-lang="en-IE" title="EN-IE"></span></a> 79 </li> 80 81 <li hreflang="it"> 82 <a href="https://www.signsofsma.it">Italy (Italiano)<span class="flag language-link " data-lang="it" title="IT"></span></a> 83 </li> 84 85 <li hreflang="pl"> 86 <a href="https://www.objawysma.pl">Poland (Polski)<span class="flag language-link" data-lang="pl" title="PL"></span></a> 87 </li> 88 89 90 <li hreflang="ro"> 91 <a href="https://www.semnealeams.ro">Romania (RomânÄ)<span class="flag language-link" data-lang="ro" title="RO"></span></a> 92 </li> 93 94 <li hreflang="ru"> 95 <a href="https://vnimaniesma.ru">Russia (ÑÑÑÑкий)<span class="flag language-link" data-lang="ru" title="RU"></span></a> 96 </li> 97 98 <li hreflang="ar-sa"> 99 <a href="https://sa.signsofsma.com">Saudi Arabia (عربÙ)<span class="flag language-link " data-lang="ar-sa" title="AR-SA"></span></a> 100 </li> 101 102 103 104 </ul> 105 </div> 106 </div> 107 </div> 108 </nav> 109 <nav class="navbar navbar-default navbar-lower navbar-expand-md bg-sma-blue hcp" role="navigation"> 110 <div class="container"> 111 <a class="navbar-brand" href="https://www.signsofsma.com/hcp-what-is-spinal-muscular-atrophy"> 112 <img src="/files/images/eu/signs_of_sma.svg" width="126" height="40" class="d-inline-block align-top" alt="Home"> 113 </a> 114 <button class="navbar-toggler" type="button" data-toggle="collapse" data-target="#navbarMenu"
115 aria-controls="navbarCollapse" aria-expanded="false" aria-label="Toggle navigation"> 116 <span class="navbar-toggler-icon"></span> 117 </button> 118 <div class="collapse navbar-collapse navbar-hover" id="navbarMenu"> 119 <ul class="navbar-nav mt-2 mt-lg-0 ml-xs-auto"> 120 <li class="nav-item menu-toggle active "> 121 <ul class="nav-submenu"> 122 <li class="toggle"><span>WHAT IS SMA</span></li> 123 <li class="item"><span data-url="https://www.signsofsma.com/hcp-what-is-spinal-muscular-atrophy" data-target="#section-what-is-sma" class="text-italic">WHAT IS SMA</span></li> 124 <li class="item"><span data-url="https://www.signsofsma.com/hcp-what-is-spinal-muscular-atrophy" data-target="#section-cause-of-sma" class="text-italic">CAUSE OF SMA</span></li> 125 <li class="item"><span data-url="https://www.signsofsma.com/hcp-what-is-spinal-muscular-atrophy" data-target="#section-stopping-neuronal-loss" class="text-italic">STOPPING NEURONAL LOSS</span></li> 126 <li class="item"><span data-url="https://www.signsofsma.com/hcp-what-is-spinal-muscular-atrophy" data-target="#section-importance-of-early-diagnosis" class="text-italic">IMPORTANCE OF EARLY DIAGNOSIS</span></li> 127 </ul> 128 <a class="nav-link" href="https://www.signsofsma.com/hcp-what-is-spinal-muscular-atrophy">WHAT IS SMA<span class="sr-only"><span class="sr-only">(current)</span></a> 129 </li> 130 <li class="nav-item menu-toggle "> 131 <ul class="nav-submenu"> 132 <li class="toggle"><span>THE SIGNS OF SMA</span></li> 133 <li class="item"><span data-url="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-symptoms" data-target="#section-the-signs-of-sma" class="text-italic">THE SIGNS OF SMA</span></li> 134 <li class="item download"><span data-url="/files/pdf/eu/SMA SIGNS WATCHLIST.pdf" data-target="download" class="text-italic">DOWNLOAD THE SMA SIGNS WATCHLIST</span></li> 135 <li class="item"><span data-url="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-symptoms" data-target="#section-infantile-nmd" class="text-italic">INFANTILE NMD</span></li> 136 <li class="item download"><span data-url="/files/pdf/eu/SMA DIFFERENTIAL DIAGNOSIS.pdf" data-target="download" class="text-italic">DOWNLOAD THE DIFFERENTIAL DIAGNOSIS OVERVIEW</span></li> 137 </ul> 138 <a class="nav-link" href="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-symptoms">THE SIGNS OF SMA<span class="sr-only"></span></a> 139 </li> 140 <li class="nav-item menu-toggle "> 141 <ul class="nav-submenu"> 142 <li class="toggle"><span>REFER FOR DIAGNOSIS</span></li> 143 <li class="item"><span data-url="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-diagnosis" data-target="#section-refer-for-diagnosis" class="text-italic">REFER FOR DIAGNOSIS</span></li> 144 <li class="item"><span data-url="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-diagnosis" data-target="#section-continual-clinical-vigilance" class="text-italic">CONTINUAL CLINICAL VIGILANCE</span></li> 145 </ul> 146 <a class="nav-link" href="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-diagnosis">REFER FOR DIAGNOSIS<span class="sr-only"></span></a> 147 </li> 148 <li class="nav-item "> 149 <a class="nav-link" href="https://www.signsofsma.com/hcp-faq">FAQ<span class="sr-only"></span></a> 150 </li> 151 <li class="nav-item menu-toggle "> 152 <ul class="nav-submenu"> 153 <li class="toggle"><span>NEWS AND INFO</span></li> 154 <li class="item"><span data-url="https://www.signsofsma.com/hcp-news"class="text-italic">NEWS</span></li> 155 <li class="item"><span data-url="https://www.signsofsma.com/hcp-community"class="text-italic">SMA COMMUNITY</span></li> 156 </ul> 157 <a class="nav-link" href="https://www.signsofsma.com/hcp-community">NEWS AND INFO<span class="sr-only"></span></a> 158 </li> 159 </ul> 160 <div class="dropdown-language btn-group dropdown"> 161 <button class="btn-default btn dropdown-toggle lang-toggle" hreflang="en-EU" type="button" 162 data-toggle="dropdown" aria-haspopup="true" aria-expanded="false"><span class="sr-text">Select country or region</span>
163 <span class="indicator"></span><span class="flag global"></span> <span class="caret-v"> </span></button> 164 <ul class="dropdown-menu lang-menu" role="menu"> 165 166 <li hreflang="es-ar"> 167 <a href="https://www.signosame.com.ar">Argentina (Español)<span class="flag language-link " data-lang="es-ar" title="es-AR"></span></a> 168 </li> 169 170 171 <li hreflang="hr"> 172 <a href="https://sma.hr">Croatia (Hrvatski)<span class="flag language-link" data-lang="hr" title="HR"></span></a> 173 </li> 174 175 <li hreflang="cz"> 176 <a href="https://www.spinalnisvalovaatrofie.cz/vyvoj-ditete-se-svalovou-atrofii">Czechia (ÄeÅ¡tina)<span class="flag language-link " data-lang="cz" title="CZ"></span></a> 177 </li> 178 179 180 181 182 183 <li hreflang="en-EU"> 184 <a href="https://www.signsofsma.com/hcp-what-is-spinal-muscular-atrophy">Global (English)<span class="flag global language-link active-language " data-lang="en-EU" title="EU"></span></a> 185 </li> 186 187 188 <li hreflang="hu"> 189 <a href="https://www.signsofsma.com/hu">Hungary (Magyar)<span class="flag language-link " data-lang="hu" title="HU"></span></a> 190 </li> 191 192 <li hreflang="en-IE"> 193 <a href="https://www.signsofsma.com/ie">Ireland (English)<span class="flag language-link " data-lang="en-IE" title="EN-IE"></span></a> 194 </li> 195 196 <li hreflang="it"> 197 <a href="https://www.signsofsma.it">Italy (Italiano)<span class="flag language-link " data-lang="it" title="IT"></span></a> 198 </li> 199 200 <li hreflang="pl"> 201 <a href="https://www.objawysma.pl">Poland (Polski)<span class="flag language-link" data-lang="pl" title="PL"></span></a> 202 </li> 203 204 205 <li hreflang="ro"> 206 <a href="https://www.semnealeams.ro">Romania (RomânÄ)<span class="flag language-link" data-lang="ro" title="RO"></span></a> 207 </li> 208 209 <li hreflang="ru"> 210 <a href="https://vnimaniesma.ru">Russia (ÑÑÑÑкий)<span class="flag language-link" data-lang="ru" title="RU"></span></a> 211 </li> 212 213 <li hreflang="ar-sa"> 214 <a href="https://sa.signsofsma.com">Saudi Arabia (عربÙ)<span class="flag language-link " data-lang="ar-sa" title="AR-SA"></span></a> 215 </li> 216 217 218 219 </ul> 220 </div> 221 <div class="section-link"><a class="hcp-link" href="#" data-show="#hcpNavigation">Go to Caregiver site ></a></div> 222 </div> 223 </div> 224 </nav> 225</div> 226 <div class="header-video-container hcp mt-xs-70 mt-md-95" data-age="1"> 227 <video poster="/files/posters/eu/sma1_header_HCP.jpg" 228 id="page-header-video" 229 data-age="0" 230 title="Early symptoms of Spinal Muscular Atrophy (SMA) type 1" 231 data-titles="Early symptoms of Spinal Muscular Atrophy (SMA) type 1|Early symptoms of Spinal Muscular Atrophy (SMA) type 2" 232 loop autoplay playsinline muted preload="auto"> 233 <source src="/files/video/eu/sma1_header_HCP.mp4" type="video/mp4"> 234 </video> 235 <div class="video-overlay" data-target="#section-what-is-sma"> 236 <img data-scrollto="#section-what-is-sma" src="/themes/sma/images/video-overlay.png" width="100%" alt="Scroll down" /> 237 </div> 238 <div class="page-header container px-0"> 239 <div class="row mt-xs-10 mt-xl-30 mx-xs-0"> 240 <div class="col-xs-12"> 241 <div class="header-wrapper header-wrapper-55"> 242 <h1 class="heading-width-3 -white-background ageContent age1 active">LOOK OUT FOR EARLY WARNING SIGNS OF SPINAL MUSCULAR <span class="nowrap">ATROPHY (SMA)<sup>1â3</sup></span></h1> 243 <h1 class="heading-width-3 -white-background ageContent age2">LOOK OUT FOR EARLY WARNING SIGNS OF SPINAL MUSCULAR <span class="nowrap">ATROPHY (SMA)<sup>1â3</sup></span></h1> 244 <a class="btn btn-link btn-fuchsia ml-xs-20" href="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-diagnosis" title="Refer for diagnosis"> 245 <div class="slider"><div class="reveal"></div></div> 246 <div class="cover"></div>
247 <span class="font-italic">REFER FOR DIAGNOSIS</span> 248 </a> 249 </div> 250 </div> 251 </div> 252 </div> 253 </div> 254 255 <div id="section-what-is-sma" class="container px-0 page-container"> 256 <div class="row mt-xs-30 mx-xs-0"> 257 <div class="col-xs-12 centered-static"> 258 <img src="/files/images/eu/signs_of_sma_turquoise.svg" class="mx-auto d-block content-logo" alt="Signs of SMA"> 259 </div> 260 </div> 261 262 <div class="paragraph paragraph-medium paragraph-width-1 paragraph-blue mt-xs-20 row mx-xs-0"> 263 <div class="col-xs-12 centered"> 264 <p>For babies with SMA fast diagnosis is vital. This is because any lower motor neuron damage occurring 265 before treatment is irreversible<sup>4,5</sup></p> 266 </div> 267 </div> 268 269 <div class="paragraph paragraph-medium paragraph-width-1 paragraph-blue mt-xs-20 row mx-xs-0"> 270 <div class="col-xs-12"> 271 <div class="top-hr bg-sma-turquoise-25"></div> 272 <h2 class="mb-xs-4">What is SMA?</h2> 273 </div> 274 </div> 275 276 <div class="paragraph paragraph-blue mt-xs-30 row mx-xs-0 mb-xs-4 mb-lg-0"> 277 <div class="col-xs-12 col-lg-4 mb-xs-40"> 278 <div class="paragraph-medium"> 279 <p class="mb-xs-4">SMA is a rare, progressive, inherited monogenic disease, characterized by lower motor neuron degeneration and muscle weakness<sup>6â10</sup></p> 280 </div> 281 <div class="paragraph-small"> 282 <p class="mb-xs-4">Untreated, SMA is the 2<sup>nd</sup> most common fatal autosomal recessive disorder after cystic fibrosis<sup>11</sup></p> 283 <p class="mb-xs-4">SMA remains the leading genetic cause of infant mortality in the absence of therapeutic intervention<sup>5,10</sup></p> 284 <p>SMA is typically classified into 4 phenotypes (Types 1â4) that range in severity. SMA Types 1 and 2 are the most severe and common forms with onset between birth and 18 months<sup>3,5,10</sup></p> 285 </div> 286 </div> 287 <div class="fact-boxes w2 col-xs-12 col-lg-4 d-flex justify-content-md-center mb-xs-4 mb-lg-0"> 288 <div class="fact-box centered col-md-10 mx-md-auto d-flex justify-content-md-center align-items-center pl-xs-0 pl-md-4 text-sma-turquoise"> 289 <div id="hcp-baby" class="svg centered" title="What is spinal muscular atrophy (SMA)"></div> 290 <p>SMA affects approximately 1 in 10,000 â 12,000 live births and can impact any race or sex<sup>6,12</sup></p> 291 </div> 292 </div> 293 <div class="fact-boxes w2 col-xs-12 col-lg-4 d-flex justify-content-md-center mb-xs-4 mb-lg-0"> 294 <div class="fact-box centered col-md-10 mx-md-auto d-flex justify-content-md-center align-items-center pl-xs-0 pl-md-4 text-sma-turquoise"> 295 <div id="hcp-1in58" class="svg centered" title="What is spinal muscular atrophy (SMA)"></div> 296 <p>Around 1 in 50 people are carriers of the disease mutation<sup>13</sup></p> 297 </div> 298 </div> 299 </div> 300 </div> 301 302 <div class="container-fluid px-xs-0"> 303 <div class="image ageContent age1 active mt-20 img1 row mx-xs-0"> 304 <div class="col-xs-12 px-xs-0"> 305 <img src="/files/images/signs-banner-1.png" height="270" alt="..."> 306 </div> 307 </div> 308 <div class="image ageContent age2 mt-20 img1 row mx-xs-0"> 309 <div class="col-xs-12 px-xs-0"> 310 <img src="/files/images/signs-banner-2.png" height="270" alt="..."> 311 </div> 312 </div> 313 </div> 314 315 <div id="section-cause-of-sma" class="container-fluid px-xs-0 bg-sma-turquoise-25"> 316 <div class="container px-xs-0"> 317 <div class="paragraph paragraph-medium paragraph-width-0 paragraph-blue pt-xs-30 row mx-xs-0"> 318 <div class="col-xs-12 mx-md-auto"> 319 <div class="top-hr bg-sma-turquoise-50"></div> 320 <h2 class="mb-xs-30">Cause of SMA</h2> 321 <p>SMA is caused by an absent or dysfunctional survival motor neuron 1 (<em>SMN1</em>) gene<sup>14â18</sup></p> 322 </div> 323 </div> 324 325 <div class="paragraph paragraph-small paragraph-black mb-xs-20 mb-md-40 row mx-xs-0"> 326 <div class="col-xs-12 mx-md-auto"> 327 <p>The body has a back-up gene, <em>SMN2</em>, however, it is only capable of producing a small amount of 328 functional SMN protein, which is insufficient for motor neuron survival and 329 function<sup>6,14,15,17,18</sup></p> 330 </div> 331 </div> 332 333 <div id="differenceTabs" class="tabgroup hcp row mx-xs-0 mb-xs-40 pt-xs-60 pt-md-40"> 334 <div class="tabgroup-heading mt-30 col-xs-12"> 335 <p class="d-block d-md-none tabgroup-label mb-xs-10 text-sma-blue">
335Click to see the difference:</p> 336 <ul class="nav nav-tabs tab-turquoise" role="tablist"> 337 <li role="presentation" class="tab-item tab1 active"> 338 <a data-tab="#diffTab1" aria-controls="tab1" role="tab" data-toggle="tab">Unaffected individual</a> 339 </li> 340 <li role="presentation" class="tab-item tab2"> 341 <a data-tab="#diffTab2" aria-controls="tab2" role="tab" data-toggle="tab">Affected individual</a> 342 </li> 343 </ul> 344 </div> 345 <div class="tabgroup-content mt-xs-40 col-xs-12 p-xs-4"> 346 <div id="diffTab1" class="row tab-padded tab-pane show active" role="tabpanel" 347 aria-labelledby="nav-difference-unaffected-tab"> 348 <div class="col-ds-5 col-xs-12 pt-md-20 pl-md-50"> 349 <h3 class="underline">Unaffected individual:</h3> 350 <ul class="styled-list"> 351 <li><p class="small">SMN protein is critical for neuronal survival and neuromuscular junction 352 formation<sup>15</sup> 353 <p></li> 354 <li><p class="small"><em>SMN1</em> is the primary gene that encodes SMN protein with 355 <em>SMN2</em> as a back-up<sup>15,19</sup></p></li> 356 </ul> 357 <div class="diff-key d-xs-none d-ds-block ml-ds-50"> 358 <div class="key-item"> 359 <div class="circle bg-sma-fuchsia"></div> 360 <div class="circle bg-sma-turquoise"></div> 361 <p class="small">Functional SMN protein</p> 362 </div> 363 <div class="key-item"> 364 <div class="circle bg-sma-fuchsia-25 q3"></div> 365 <div class="circle bg-sma-turquoise-25 q3"></div> 366 <p class="small">Non-functional SMN protein</p> 367 </div> 368 </div> 369 </div> 370 <div class="col-lg-6 col-ds-7 mx-xs-0 mx-lg-auto pb-ds-30 col-xs-12"> 371 <video poster="/files/posters/eu/Unaffected-Individual.jpg" title="Cause of spinal muscular atrophy (SMA) in unaffected individual" playsinline webkit-playsinline muted loop class="mb-30 video-js"> 372 <source src="/files/video/eu/Unaffected_Individual_V02.mp4" type="video/mp4"> 373 </video> 374 <div class="d-xs-block d-ds-none mb-xs-20 mb-ds-0 diff-key"> 375 <div class="key-item"> 376 <div class="circle bg-sma-fuchsia"></div> 377 <div class="circle bg-sma-turquoise"></div> 378 <p class="small">Functional SMN protein</p> 379 </div> 380 <div class="key-item"> 381 <div class="circle bg-sma-fuchsia-25 q3"></div> 382 <div class="circle bg-sma-turquoise-25 q3"></div> 383 <p class="small">Non-functional SMN protein</p> 384 </div> 385 </div> 386 </div> 387 </div> 388 <div id="diffTab2" class="row tab-padded tab-pane p-xs-0" role="tabpanel" 389 aria-labelledby="nav-difference-affected-tab"> 390 <div class="col-ds-5 col-xs-12 pt-md-20 pl-md-50"> 391 <h3 class="underline">Affected individual:</h3> 392 <ul class="styled-list"> 393 <li><p class="small"><em>SMN1</em> gene is absent or dysfunctional<sup>14â17</sup></p></li> 394 <li><p class="small"><em>SMN2</em> alone is unable to produce sufficient SMN protein<sup>6,14,15,18</sup> 395 </p></li> 396 <li><p class="small">SMN protein deficiency leads to irreversible neuronal degeneration and loss 397 of muscle function in SMA<sup>5,14,15</sup></p></li> 398 </ul> 399 <div class="diff-key ml-ds-50 d-xs-none d-ds-block ml-ds-50"> 400 <div class="key-item"> 401 <div class="circle bg-sma-turquoise"></div> 402 <p class="small">Functional SMN protein</p> 403 </div> 404 <div class="key-item"> 405 <div class="circle bg-sma-turquoise-25 q3"></div> 406 <p class="small">Non-functional SMN protein</p> 407 </div> 408 </div> 409 </div> 410 <div class="col-lg-6 col-ds-7 mx-xs-0 mx-lg-auto pb-ds-30 col-xs-12"> 411 <video poster="/files/posters/eu/Affected-Individual.jpg" title="Cause of spinal muscular atrophy (SMA) in affected
411individuals" playsinline webkit-playsinline muted loop class="mb-30 video-js"> 412 <source src="/files/video/eu/Affected_Individual_V02.mp4" type="video/mp4"> 413 </video> 414 <div class="diff-key d-xs-block d-ds-none mb-xs-20 mb-ds-0"> 415 <div class="key-item"> 416 <div class="circle bg-sma-turquoise"></div> 417 <p class="small">Functional SMN protein</p> 418 </div> 419 <div class="key-item"> 420 <div class="circle bg-sma-turquoise-25 q3"></div> 421 <p class="small">Non-functional SMN protein</p> 422 </div> 423 </div> 424 </div> 425 </div> 426 </div> 427 </div> 428 </div> 429 </div> 430 431 <div id="section-stopping-neuronal-loss" class="container-fluid px-xs-0"> 432 <div class="container px-xs-0"> 433 <div class="paragraph paragraph-medium paragraph-width-0 paragraph-blue pt-xs-30 row mx-xs-0"> 434 <div class="col-xs-12 mx-md-auto"> 435 <div class="top-hr bg-sma-turquoise-50"></div> 436 <h2 class="mb-30">STOPPING NEURONAL LOSS</h2> 437 <p>Loss of motor neurons in SMA is irreversible<sup>4,5</sup></p> 438 </div> 439 </div> 440 441 <div id="ageTabs1" class="tabgroup hcp row pt-xs-80 pt-md-40 mt-xs-10 mb-xs-0 mb-md-40 mt-md-40 mx-xs-0 ageTabs"> 442 <div class="tabgroup-heading mt-30 col-xs-12 px-xs-0"> 443 <ul class="nav nav-tabs" role="tablist"> 444 <li role="presentation" class="tab-item tab1 age1 active"> 445 <a data-tab=".age1" aria-controls="tab1" role="tab" data-toggle="tab">Age 0â6 months</a> 446 </li> 447 <li role="presentation" class="tab-item tab2 age2"> 448 <a data-tab=".age2" aria-controls="tab2" role="tab" data-toggle="tab">Age 6â18 months</a> 449 </li> 450 </ul> 451 </div> 452 <div class="tabgroup-content mb-30 col-xs-12 px-xs-20"> 453 <div id="ageTab1" class="age1 row mx-xs-0 px-md-30 tab-padded tab-pane show active" role="tabpanel"> 454 <div class="col-xs-12 col-lg-6 mb-xs-30 px-xs-0"> 455 <h3 class="underline mx-auto">Disease progression</h3> 456 <p class="small mb-xs-10">More than 90% of untreated patients with SMA Type 1 will not survive or will need permanent ventilatory support by 2 years of age<sup>20</sup></p> 457 <p class="small mb-xs-10">Every delay in the diagnosis of SMA Type 1 can jeopardize lower motor neuron survival,<sup>4</sup> directly impacting neuromuscular function<sup>21</sup></p> 458 <p class="small"><strong>Your rapid referral is crucial to halt or delay disease progression, and enable your patient access to the best available care<sup>4,10,22</sup></strong></p> 459 </div> 460 <div class="d-none d-lg-block col-lg-6"></div> 461 <div class="col-xs-12 mb-xs-30 px-xs-0"> 462 <div id="hcp-01-d-01" class="chart-img d-xs-none d-md-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 1 disease progression in infant 0-6 months"></div> 463 <div id="hcp-01-m-01" class="chart-img d-md-none d-xs-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 1 disease progression in infant 0-6 months"></div> 464 <div class="row mx-xs-0"> 465 <div class="col-md-4 col-xs-12 px-xs-0 mb-md-0 mb-xs-4"> 466 <div class="snr-key"> 467 <div> 468 <div class="circle bg-sma-blue"></div> 469 <p class="smaller">PNCR: SMA Type 1 survival rates*</p> 470 </div> 471 <div> 472 <div class="circle bg-sma-fuchsia"></div> 473 <p class="smaller">NeuroNext: SMA Type 1 survival rates*</p> 474 </div> 475 </div> 476 </div> 477 <div class="notes col-md-8 col-xs-12 px-xs-0 mb-xs-4"> 478 <p class="footnote pl-xs-0 pl-md-4">PNCR, Pediatric Neuromuscular Clinical Research</p> 479 <p class="footnote pl-xs-0 pl-md-4">*Event-free survival for PNCR = no death, and no need 480 for â¥16 hours/day ventilation continuously for 14 days, in the absence of an acute 481 reversible illness;<sup>20</sup> n=23 (Type 1 patients with 2 copies of <em>SMN</em><sup>2</sup>). Survival for 482 NeuroNext = no death, or no intubation; n=20<sup>21</sup></p> 483 <p class="footnote pl-xs-0 pl-md-4">Adapted from Anderton RS and Mastaglia FL. 2015<sup>15</sup>, 484 Finkel RS. 2013<sup>24</sup>, Finkel RS, <em>et al</em>. 2014<sup>20</sup> and Kolb SJ, <em>et al</em>. 485 2017<sup>21</sup></p> 486 </div> 487 </div> 488 </div> 489 </div> 490 <div id="ageTab2" class="age2 row mx-xs-0 px-md-30 tab-padded tab-pane" role="tabpanel"> 491 <div class="col-lg-5 col-xs-12 pb-xs-20 px-xs-0 pr-md-4"> 492 <h3 class="underline">Disease progression</h3> 493 <p class="small mb-xs-10">While patients diagnosed with SMA Type 2 (with disease onset between 6â18 494 months of age) may possibly reach motor milestones in the first years of life, all patients will 495 show a clear and progressive decline with long-term follow-up<sup>8</sup></p> 496 <p class="small mb-xs-10">Every delay in the diagnosis of SMA can jeopardize lower motor neuron 497 survival,<sup>4</sup> directly impacting neuromuscular function<sup>4,10,22</sup></p> 498 <p class="small mb-xs-10"><strong>
498Your rapid referral is crucial to halt or delay disease 499 progression, and enable your patient access to the best available 500 care<sup>4,10,22</sup></strong></p> 501 </div> 502 <div class="col-lg-7 col-xs-12 pb-xs-30 px-xs-0 pt-lg-60 pl-md-4"> 503 <div id="hcp-01-d-02" class="chart-img d-xs-none d-md-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 2 disease progression in infant 6-18 months"></div> 504 <div id="hcp-01-m-02" class="chart-img d-md-none d-xs-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 2 disease progression in infant 6-18 months"></div> 505 <div class="ml-xs-0 pl-md-9pc pl-xs-5pc"> 506 <p class="footnote mt-xs-10">TIMPSI: Average Test of Infant Motor Performance Screening Items</p> 507 <p class="footnote mt-xs-2">Adapted from Kolb SJ, <em>et al</em>. 2017<sup>21</sup></p> 508 </div> 509 </div> 510 </div> 511 </div> 512 </div> 513 </div> 514 </div> 515 516 <div id="section-importance-of-early-diagnosis" class="container-fluid px-xs-0 bg-sma-turquoise-10 overflow-hide-x"> 517 <div class="container px-xs-0"> 518 <div class="paragraph paragraph-medium paragraph-blue py-xs-30 pb-xs-0 pb-md-30 row"> 519 <div class="col-xs-12"> 520 <div class="top-hr bg-sma-turquoise-50"></div> 521 <h2 class="mb-md-30">IMPORTANCE OF EARLY DIAGNOSIS</h2> 522 <p>Fast diagnosis of SMA is vital, as damage that occurs before treatment is 523 irreversible<sup>4,5</sup></p> 524 </div> 525 </div> 526 <div class="row mx-xs-0"> 527 <div class="col-xs-12 p-md-4 pt-xs-20 pb-xs-0 mx-md-auto mb-xs-0 mb-md-30 bg-white"> 528 <div class="row mx-auto mb-xs-0"> 529 <div class="col-lg-5 col-ds-6 col-xs-12 pt-md-20 pl-ds-50 pr-xs-0 pr-lg-4"> 530 <h3 class="underline">Early diagnosis of SMA is critical to:<sup>25â27</sup></h3> 531 <ul class="styled-list"> 532 <li><p class="small">Begin optimal therapeutic intervention and management strategies</p></li> 533 <li><p class="small">Relieve the stress and burden experienced by patients and caregivers</p></li> 534 </ul> 535 <p class="note small mt-xs-30 mb-xs-20"> 536 <strong>Research suggests early medical intervention provides the most benefit in 537 SMA<sup>10,22,28</sup></strong> 538 </p> 539 </div> 540 <div class="col-lg-7 col-ds-6 col-xs-12 pt-md-20 pr-ds-50"> 541 <div id="hcp-01-d-03" class="chart-img d-xs-none d-md-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 1 diagnosis timeline"></div> 542 <div id="hcp-01-m-03" class="chart-img d-md-none d-xs-block my-xs-2 svg centered scroll-on-show" title="Spinal muscular atrophy (SMA) type 1 diagnosis timeline"></div> 543 <p class="smallest mt-xs-10">Adapted from Serra-Juhe C and Tizzano EF, 2019<sup>19</sup></p> 544 </div> 545 </div> 546 <div class="row clip mb-xs-0 pb-md-40 py-xs-0 py-md-30"> 547 <div class="cta-row col-xs-12 mx-xl-auto pb-xs-20 mx-xs-0 px-xs-0"> 548 <div class="call-to-action" title="Early action could limit the irreversible damage associated with SMA (4,5,10,29)"> 549 <span>Your early action could limit the irreversible damage associated with SMA<sup>4,5,10,29</sup></span> 550 <div class="clock scroll-on-show"></div> 551 </div> 552 </div> 553 </div> 554 </div> 555 </div> 556 </div> 557 </div> 558 559 <div class="container-fluid px-0 references-container"> 560 <div class="container"> 561 <div class="references row mx-xs-0"> 562 <div class="references-header col-xs-12 px-xs-0"> 563 <div class="references-header-title"> 564 <div class="references-toggle"></div> 565 <p>References</p> 566 </div> 567 </div> 568 </div> 569 </div> 570 </div> 571 <div class="container-fluid px-0 bg-sma-turquoise-5 mb-xs-40"> 572 <div class="container px-xs-0"> 573 <div class="references row mx-xs-0"> 574 <div class="col-xs-12"> 575 <div class="row px-xs-0"> 576 <div class="references-body col-xs-12 px-md-0 px-xs-0 text-sma-black-50"> 577 <p class="mt-xs-30">NMD, Neuromuscular disease.</p> 578 <h6>References</h6> 579 <ul> 580 <li><strong>1.</strong> Kolb SJ and Kissel JT. <i>Neurol Clin.</i> 2015;33(4):831â46.</li> 581 <li><strong>2.</strong> Prior TW, Leach ME, Finanger E. <i>Spinal Muscular Atrophy.</i>
581 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al.</i>, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020.</li> 582 <li><strong>3.</strong> Wang CH, <i>et al.</i> <i>J Child Neurol.</i> 2007;22(8):1027â49.</li> 583 <li><strong>4.</strong> Govoni A, <i>et al.</i> <i>Mol Neurobiol.</i> 2018;55(8):6307â18.</li> 584 <li><strong>5.</strong> Glascock J, <i>et al.</i> <i>J Neuromuscul Dis.</i> 2018;5(2):145â58.</li> 585 <li><strong>6.</strong> Verhaart IEC, <i>et al.</i> <i>Orphanet J Rare Dis.</i> 2017;12:124.</li> 586 <li><strong>7.</strong> Richter T, <i>et al.</i> <i>Value Health.</i> 2015;18(6):906â14.</li> 587 <li><strong>8.</strong> Mercuri E, <i>et al.</i> <i>Neurology.</i> 2019;93(13):e1241â7.</li> 588 <li><strong>9.</strong> Mercuri E, <i>et al.</i> <i>Orphanet J Rare Dis.</i> 2020;15(1):84.</li> 589 <li><strong>10.</strong> Schorling DC, <i>et al.</i> <i>J Neuromuscl Dis.</i> 2020;7:1â13.</li> 590 <li><strong>11.</strong> DâAmico A, <i>et al.</i> <i>Orphanet J Rare Dis.</i> 2011;6:71.</li> 591 <li><strong>12.</strong> Cure SMA (2023). About SMA. Available at: <a href="https://www.curesma.org/about/" target="_blank">https://www.curesma.org/about/</a>. Date accessed: November 2023.</li> 592 <li><strong>13.</strong> Verhaart IEC, <i>et al.</i> Additional file 2: Table S1. Overview carrier frequencies of SMA. Supplementary material to Verhaart IEC, <i>et al.</i> Orphanet J Rare Dis. 2017;12:124. Available at: <a href="https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0671-8" target="_blank">https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0671-8</a>. Date accessed: November 2023.</li> 593 <li><strong>14.</strong> Coovert DD, <i>et al.</i> <i>Hum Mol Genet.</i> 1997;6(8):1205â14.</li> 594 <li><strong>15.</strong> Anderton RS and Mastaglia FL. <i>Expert Rev Neurother.</i> 2015;15(8):895â908.</li> 595 <li><strong>16.</strong> Lefebvre S, <i>et al.</i> <i>Cell.</i> 1995;80:155â65.</li> 596 <li><strong>17.</strong> National Institute for Health (NIH) (2020a). Genetics home reference. Your guide to understanding genetic conditions. <i>SMN1</i> gene. Available at: <a href="https://ghr.nlm.nih.gov/gene/SMN1" target="_blank">https://ghr.nlm.nih.gov/gene/SMN1</a>. Date accessed: November 2023.</li> 597 <li><strong>18.</strong> NIH (2020b). Genetics home reference. Your guide to understanding genetic conditions. <i>SMN2</i> gene. Available at: <a href="https://ghr.nlm.nih.gov/gene/SMN2" target="_blank">https://ghr.nlm.nih.gov/gene/SMN2</a>. Date accessed: November 2023.</li> 598 <li><strong>19.</strong> Serra-Juhe C and Tizzano EF. <i>Eur J Hum Genet.</i> 2019;27(12):1774â82.</li> 599 <li><strong>20.</strong> Finkel RS, <i>et al.</i> <i>Neurology.</i> 2014;83(9):810â7.</li> 600 <li><strong>21.</strong> Kolb SJ, <i>et al.</i> <i>Ann Neurol.</i> 2017;82(6):883â91.</li> 601 <li><strong>22.</strong> Kirschner J, <i>et al.</i> <i>Eur J Paediatr Neurol.</i> 2020;28:38â43. Published online ahead of print.</li> 602 <li><strong>23.</strong> Swoboda KJ, <i>et al.</i> <i>Ann Neurol.</i> 2005;57(5):704â12.</li> 603 <li><strong>24.</strong> Finkel RS. <i>Neuromuscul Disord.</i> 2013;23(2):112â5.</li> 604 <li><strong>25.</strong> Qian Y, <i>et al.</i> <i>BMC Neurol.</i> 2015;15:217.</li> 605 <li><strong>26.</strong> Mammas IN and Spandidos DA. <i>Exp Ther Med.</i> 2018;15:3673â9.</li> 606 <li><strong>27.</strong> Lurio JG, <i>et al.</i> <i>Am Fam Physician.</i> 2015;91(1):38â44.</li> 607 <li><strong>28.</strong> Waldrop MA and Elsheikh BH. <i>Neurol Clin.</i> 2020;38(3):505â18.</li> 608 <li><strong>29.</strong> Lowes LP, <i>et al.</i> <i>Pediatr Neurol. </i>2019;98:39â45. </li> 609 </ul> 610 </div> 611 </div> 612 </div> 613 </div> 614 </div> 615 </div> 616 617 <div class="container px-0 page-container"> 618 <footer class="footer row pb-xs-30 mx-xs-0"> 619
620 <div class="col-md-7 col-xs-12 px-xs-4 text-sma-black-50"> 621 <img width="134" height="42" alt="Signs of SMA" src="/files/images/eu/signs_of_sma_grey.svg" class="mb-xs-30"> 622 <p class="small mb-xs-20">© 2023 Novartis Gene Therapies, Inc. Bannockburn, IL 60015</p> 623 <p class="small mb-xs-10 text-sma-turquoise"> 624 <a href="/files/pdf/eu/Terms%20of%20use.pdf" target="_blank" data-download="Terms of use" title="Terms of use" class="small">Terms of use</a> | 625 <a href="https://www.novartis.com/privacy/privacy-policy" target="_blank" data-download="Privacy policy" title="Privacy Policy & Cookie Policy" class="small">Privacy Policy & Cookie Policy</a> | 626 <!-- OneTrust Cookies Settings button start --> 627 <a href="#" id="custom-ot-sdk-btn" class="ot-sdk-show-settings"> Cookie Settings</a> 628 <!-- OneTrust Cookies Settings button end --> 629 </p> 630 <p class="small">GL-UNB-23-0009 V2 | Date of preparation: November 2023</p> 631 </div> 632 <div class="col-md-5 col-xs-12 px-xs-4 mt-xs-20 mt-md-0 d-xs-flex justify-content-md-end justify-content-xs-center align-items-md-end"> 633 <img width="184" height="30" alt="Novartis" src="/themes/sma/images/novartis_logo.svg" class="align-left"> 634 </div> 635 636</footer> 637 </div> 638 639 <div class="modal-container -bg-blue"> 640 <div id="hcpConfirmation" class="modal confirm" data-requirement="2"> 641 <p>This site is designed to help you learn about the early signs of spinal muscular atrophy (SMA) and what to do if you spot them</p> 642 <p>This website is intended for Global Healthcare Professionals only. <br>Please confirm you are a Healthcare Professional.</p> 643 <div id="hcpConfirmButton" data-visitor="2" class="btn btn-link -double" title="Healthcare professionals click here"> 644 <div class="slider"> 645 <div class="reveal"></div> 646 </div> 647 <div class="cover"></div> 648 <span class="wrap">I AM A HEALTHCARE PROFESSIONAL</span> 649 </div> 650 <a class="btn btn-link btn-fuchsia pull-right -double" data-visitor="1" href="https://www.signsofsma.com/spinal-muscular-atrophy-baby-milestones" title="Caregivers click here"> 651 <div class="slider"> 652 <div class="reveal"></div> 653 </div> 654 <div class="cover"></div> 655 <span class="wrap">I AM A CAREGIVER (PARENT / GUARDIAN)</span> 656 </a> 657 </div> 658 <div id="hcpNavigation" class="modal"> 659 <p>You are now leaving the Healthcare Professionals (HCP) website</p> 660 <div class="btn btn-link -double" data-hide="#hcpNavigation" title="Healthcare professionals click here"> 661 <div class="slider"> 662 <div class="reveal"></div> 663 </div> 664 <div class="cover"></div> 665 <span class="wrap">Stay on HCP website</span> 666 </div> 667 <a class="btn btn-link btn-fuchsia pull-right -double" href="https://www.signsofsma.com/spinal-muscular-atrophy-baby-milestones" title="Caregivers click here"> 668 <div class="slider"> 669 <div class="reveal"></div> 670 </div> 671 <div class="cover"></div> 672 <span class="wrap">GO TO CAREGIVER WEBSITE</span> 673 </a> 674 </div> 675 <div id="externalLink" class="modal paragraph-blue px-md-0"> 676 <h2 class="text-centered -smaller mb-xs-4">NOTICE</h2> 677 <p>Novartis Gene Therapies provides links to third-party sites as a convenience and is not responsible for the content of these sites.</p> 678 <p>Would you like to proceed? Click âCancelâ to keep browsing signsofsma.com</p> 679 <div class="d-sm-flex flex-sm-row justify-content-sm-center"> 680 <div class="btn btn-link mr-sm-4 -double" data-hide="#externalLink" title="Stay on signsofsma.com"> 681 <div class="slider"> 682 <div class="reveal"></div> 683 </div> 684 <div class="cover"></div> 685 <span class="wrap">CANCEL</span> 686 </div> 687 <a class="btn btn-link btn-fuchsia pull-right -double" href="" target="_blank" data-hide="#externalLink" title="Continue to third-party site"> 688 <div class="slider"> 689 <div class="reveal"></div> 690 </div> 691 <div class="cover"></div>
692 <span class="wrap">PROCEED</span> 693 </a> 694 </div> 695 </div> 696</div> 697
697<script src="/themes/sma/js/jquery-slim.min.js?d=202401190956"></script>
697 698
698<script src="/themes/sma/js/video.js?d=202401190956"></script>
698 699
699<script src="/themes/sma/js/svg-data.js?d=202401190956"></script>
699 700
700<script src="/files/images/eu/svg/hcp-svg-data.js?d=202401190956"></script>
700 701
701<script src="/themes/sma/js/main_v3.js?d=202401190956"></script>
701 702</body> 703</html>
Line numbers count LF bytes from the start of the resource, as the search results do. Vendor segments are library code the classifier recognised; they are stored but not indexed. Bytes are shown as Latin1 characters, one per byte.