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href="https://www.signsofsma.com/hu">Hungary (Magyar)<span class="flag language-link " data-lang="hu" title="HU"></span></a> 189 </li> 190 191 <li hreflang="en-IE"> 192 <a href="https://www.signsofsma.com/ie">Ireland (English)<span class="flag language-link " data-lang="en-IE" title="EN-IE"></span></a> 193 </li> 194 195 <li hreflang="it"> 196 <a href="https://www.signsofsma.it">Italy (Italiano)<span class="flag language-link " data-lang="it" title="IT"></span></a> 197 </li> 198 199 <li hreflang="pl"> 200 <a href="https://www.objawysma.pl">Poland (Polski)<span class="flag language-link" data-lang="pl" title="PL"></span></a> 201 </li> 202 203 204 <li hreflang="ro"> 205 <a href="https://www.semnealeams.ro">Romania (RomânÄ)<span class="flag language-link" data-lang="ro" title="RO"></span></a> 206 </li> 207 208 <li hreflang="ru"> 209 <a href="https://vnimaniesma.ru">Russia (ÑÑÑÑкий)<span class="flag language-link" data-lang="ru" title="RU"></span></a> 210 </li> 211 212 <li hreflang="ar-sa"> 213 <a href="https://sa.signsofsma.com">Saudi Arabia (عربÙ)<span class="flag language-link " data-lang="ar-sa" title="AR-SA"></span></a> 214 </li> 215 216 217 218 </ul> 219 </div> 220 <div class="section-link"><a class="hcp-link" href="#" data-show="#hcpNavigation">Go to Caregiver site ></a></div> 221 </div> 222 </div> 223 </nav> 224</div> 225 <div class="header-image-container compact hcp mt-xs-70 mt-md-95" 226 data-age="1" 227 title="Early symptoms of Spinal Muscular Atrophy (SMA) type 1" 228 > 229 <div class="page-header container px-0"> 230 <div class="row mt-xs-1 mt-lg-4"> 231 <div class="col-xs-12"> 232 <h1>LOOK OUT FOR EARLY WARNING SIGNS OF SPINAL MUSCULAR ATROPHY (SMA)<sup>1â3</sup></h1> 233 </div> 234 </div> 235 <a href="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-diagnosis" class="header-link">REFER FOR DIAGNOSIS</a> 236 </div> 237 </div> 238 239 <div class="container-fluid px-xs-0"> 240 <div class="faq container px-xs-0"> 241 <div class="col-xs-12 px-xs-4 mt-xs-40"> 242 <div class="top-hr bg-sma-turquoise-25"></div> 243 <h2>Frequently asked questions</h2> 244 </div> 245 246 <div class="faq hcp col-xs-12 px-xs-4"> 247 <div class="faq-item"> 248 <div class="faq-header toggle"> 249 <h3>1) What is spinal muscular atrophy (SMA)?</h3> 250 </div> 251 <div class="faq-body"> 252 <p>SMA is a rare, progressive, inherited monogenic disease, characterized by lower motor neuron degeneration and muscle weakness<sup>1â5</sup></p> 253 254 <div class="faq-references"> 255 <div class="toggle">References</div> 256 <ul> 257 <li><strong>1.</strong> Verhaart IEC, <i>et al</i>. <i>Orphanet J Rare Dis.</i> 2017;12:124.</li> 258 <li><strong>2.</strong> Richter T, <i>et al</i>. <i>Value Health.</i> 2015;18(6):906â14.</li> 259 <li><strong>3.</strong> Mercuri E, <i>et al</i>. <i>Neurology.</i> 2019;93(13):e1241â7.</li> 260 <li><strong>4.</strong> Mercuri E, <i>et al</i>. <i>Orphanet J Rare Dis.</i> 2020;15(1):84.</li> 261 <li><strong>5.</strong> Schorling DC, <i>et al</i>. <i>J Neuromuscl Dis.</i> 2020;7:1â13.</li> 262 </ul> 263 </div> 264 </div> 265 </div> 266 <div class="faq-item"> 267 <div class="faq-header toggle"> 268 <h3>2) What is the cause of spinal muscular atrophy (SMA)?</h3> 269 </div> 270 <div class="faq-body"> 271 <p>SMA is caused by an absent or dysfunctional survival motor neuron 1 (<i>SMN1</i>) gene<sup>1â4</sup></p> 272 <p><i>SMN1</i> is the primary gene that encodes SMN protein, which is critical for neuronal survival and neuromuscular junction formation<sup>2,5</sup></p> 273 <p>The body has a back-up gene, <i>SMN2</i>, however, it is only capable of producing a small amount of functional SMN protein, which is insufficient for motor neuron survival and function<sup>1,2,6</sup></p> 274 <p>SMN protein deficiency leads to irreversible neuronal degeneration and loss of muscle function in SMA<sup>1,2,7</sup></p> 275 <p><a href="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-symptoms">Click here</a> for more information about what causes SMA</p> 276 277 <div class="faq-references"> 278 <div class="toggle">References</div> 279 <ul> 280 <li><strong>1.</strong> Coovert DD, <i>et al</i>. <i>Hum Mol Genet.</i> 1997;6(8):1205â14.</li> 281 <li><strong>2.</strong> Anderton RS and Mastaglia FL. Expert Rev Neurother. 2015;15(8):895â908.</li> 282 <li><strong>3.</strong> Lefebvre S, <i>et al</i>. <i>Cell.</i> 1995;80:155â65.</li> 283 <li><strong>4.</strong> Monani UR, <i>et al</i>. <i>Hum Mol Genet.</i> 2000;9(3):333â9.</li> 284 <li><strong>5.</strong> Serra-Juhe C and Tizzano EF. <i>Eur J Hum Genet.</i> 2019;27(12):1774â82.</li> 285 <li><strong>6.</strong> Verhaart IEC, <i>et al</i>. <i>Orphanet J Rare Dis.</i> 2017;12:124.</li> 286 <li><strong>7.</strong> Glascock J, <i>et al</i>. <i>J Neuromuscul Dis.</i> 2018;5(2):145â58.</li> 287 </ul> 288 </div> 289 </div> 290 </div> 291 <div class="faq-item"> 292 <div class="faq-header toggle"> 293 <h3>3) What is survival motor neuron 2 (<i>SMN2</i>)?</h3> 294 </div> 295 <div class="faq-body"> 296 <p><i>SMN2</i> gene is an almost identical copy of <i>SMN1</i>. However, a critical single base change in the coding region of the <i>SMN2</i> gene causes alternative splicing, and exclusion of exon 7. As a result, only ~10% of SMN protein produced by <i>SMN2</i> is functional<sup>1,2</sup></p> 297 298 <div class="faq-references"> 299 <div class="toggle">References</div> 300 <ul> 301 <li><strong>1.</strong> Coovert DD, <i>et al</i>. <i>Hum Mol Genet.</i> 1997;6(8):1205â14.</li> 302 <li><strong>2.</strong> Anderton RS and Mastaglia FL. <i>Expert Rev Neurother.</i> 2015;15(8):895â908.</li> 303 </ul> 304 </div> 305 </div> 306 </div> 307 <div class="faq-item"> 308 <div class="faq-header toggle"> 309 <h3>4) What are the different types of spinal muscular atrophy (SMA)?</h3> 310 </div> 311 <div class="faq-body"> 312 <p>SMA is typically classified into 4 phenotypes: (Types 1â4) that range in severity. Types 1 and 2 are the most severe and common forms with onset between b
312irth and 18 months<sup>1â3</sup></p> 313 <div class="faq-references"> 314 <div class="toggle">References</div> 315 <ul> 316 <li><strong>1.</strong> Wang CH, <i>et al</i>. <i>J Child Neurol.</i> 2007;22(8):1027â49.</li> 317 <li><strong>2.</strong> Glascock J, <i>et al</i>. <i>J Neuromuscul Dis.</i> 2018;5(2):145â58.</li> 318 <li><strong>3.</strong> Schorling DC, <i>et al</i>. <i>J Neuromuscl Dis.</i> 2020;7:1â13.</li> 319 </ul> 320 </div> 321 </div> 322 </div> 323 <div class="faq-item"> 324 <div class="faq-header toggle"> 325 <h3>5) What are the differences between spinal muscular atrophy (SMA) Types 1â4?</h3> 326 </div> 327 <div class="faq-body"> 328 <p>There are different symptoms that may occur depending on the Type of SMA<sup>1</sup></p> 329 <p class="font-weight-bold">SMA Type 1 (Werdnig-Hoffmann)<sup>1</sup></p> 330 <p class="font-weight-bold">Unable to sit independently, onset age ≤6 months<sup>1,2</sup></p> 331 <ul> 332 <li><span>Hypotonia<sup>2,3</sup></span></li> 333 <li><span>Areflexia<sup>1</sup></span></li> 334 <li><span>Head lag<sup>4</sup></span></li> 335 <li><span>Difficulty breathing<sup>3</sup></span></li> 336 <li><span>Difficulty swallowing<sup>2,5</sup></span></li> 337 <li><span>Tongue fasciculation<sup>1,2,5</sup></span></li> 338 <li><span>Weak cry and cough<sup>5</sup></span></li> 339 </ul> 340 341 <p class="font-weight-bold">SMA Type 2</p> 342 <p class="font-weight-bold">Able to sit and may stand, but unable to walk independently, onset age 6â18 months<sup>1,2</sup></p> 343 <ul> 344 <li><span>Hypotonia<sup>2</sup></span></li> 345 <li><span>Areflexia<sup>1,2</sup></span></li> 346 <li><span>Fine tremor<sup>5</sup></span></li> 347 <li><span>Progressive scoliosis and joint contractures<sup>1,2,5,6</sup></span></li> 348 <li><span>Respiratory symptoms<sup>1</sup></span></li> 349 <li><span>Delayed/lost motor milestones<sup>1,5</sup></span></li> 350 </ul> 351 <p><a href="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-symptoms">Click here</a> for more information about the signs and symptoms of SMA Types 1 and 2</p> 352 353 <p class="font-weight-bold">SMA Type 3</p> 354 <p class="font-weight-bold">Independent walking, onset age >18 monthsâteens<sup>1,2</sup></p> 355 <ul> 356 <li><span>Proximal muscle weakness that is greater in the legs than in the arms<sup>2</sup></span></li> 357 <li><span>Loss of motor skills<sup>1</sup></span></li> 358 <li><span>Progressive scoliosis<sup>5</sup></span></li> 359 <li><span>Difficulty swallowing and coughing<sup>5</sup></span></li> 360 <li><span>Fatigue<sup>1</sup></span></li> 361 <li><span>Tremor<sup>1</sup></span></li> 362 </ul> 363 364 <p class="font-weight-bold">SMA Type 4</p> 365 <p class="font-weight-bold">Independent walking into adulthood, onset age >18 years<sup>1,2</sup></p> 366 <ul> 367 <li><span>In the mildest form of SMA, symptoms donât appear until adulthood<sup>1</sup></span></li> 368 <li><span>Fatigue<sup>1</sup></span></li> 369 <li><span>Mild weakness, without breathing difficulties<sup>1,5</sup></span></li> 370 </ul> 371 372 <div class="faq-references"> 373 <div class="toggle">References</div> 374 <ul> 375 <li><strong>1.</strong> Prior TW, Leach ME, Finanger E. <i>Spinal Muscular Atrophy.</i> 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al</i>., editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020.</li> 376 <li><strong>2.</strong> Kolb SJ and Kissel JT. <i>Neurol Clin.</i> 2015;33(4):831â46.</li> 377 <li><strong>3.</strong> Pera MC, <i>et al</i>. <i>PLoS One.</i> 2020;15(3):e0230677.</li> 378 <li><strong>4.</strong> Markowitz JA, <i>et al</i>. <i>J Obstet Gynecol Neonatal Nurs.</i> 2004;33:12â20.</li> 379 <li><strong>5.</strong> Wang CH, <i>et al</i>. <i>J Child Neurol.</i> 2007;22(8):1027â49.</li> 380 <li><strong>6.</strong> Fujak A, <i>et al</i>. <i>BMC Musculoskelet Disord.</i> 2013 Oct 4;14:283.</li> 381 </ul> 382 </div> 383 </div> 384 </div> 385 <div class="faq-item"> 386 <div class="faq-header toggle"> 387 <h3>6) Is spinal muscular atrophy (SMA) genetic?</h3> 388 </div> 389 <div class="faq-body"> 390 <p>Yes, SMA is a genetic disease caused by a dysfunctional or absent survival motor neuron 1 (<i>SMN1</i>) gene, which is the primary gene that encodes SMN protein.<sup>1â5</sup> SMA is an autosomal recessive disorder<sup>6</sup></p> 391 392 <div class="faq-references"> 393 <div class="toggle">References</div> 394 <ul> 395 <li><strong>1.</strong> Coovert DD, <i>et al</i>. <i>Hum Mol Genet.</i> 1997;6(8):1205â14. </li> 396 <li><strong>2.</strong> Anderton RS and Mastaglia FL. <i>Expert Rev Neurother.</i> 2015;
39615(8):895â908. </li> 397 <li><strong>3.</strong> Lefebvre S, <i>et al</i>. <i>Cell.</i> 1995;80:155â65. </li> 398 <li><strong>4.</strong> Monani UR, <i>et al</i>. <i>Hum Mol Genet.</i> 2000;9(3):333â9.</li> 399 <li><strong>5.</strong> Serra-Juhe C and Tizzano EF. <i>Eur J Hum Genet.</i> 2019;27(12):1774â82.</li> 400 <li><strong>6.</strong> DâAmico A, <i>et al</i>. <i>Orphanet J Rare Dis.</i> 2011;6:71.</li> 401 </ul> 402 </div> 403 </div> 404 </div> 405 <div class="faq-item"> 406 <div class="faq-header toggle"> 407 <h3>7) Is spinal muscular atrophy (SMA) dominant or recessive?</h3> 408 </div> 409 <div class="faq-body"> 410 <p>SMA is an autosomal recessive disorder. Untreated, SMA is the second most common fatal autosomal recessive disorder after cystic fibrosis<sup>1</sup></p> 411 412 <div class="faq-references"> 413 <div class="toggle">Reference</div> 414 <ul> 415 <li><strong>1.</strong> DâAmico A, <i>et al</i>. <i>Orphanet J Rare Dis.</i> 2011;6:71.</li> 416 </ul> 417 </div> 418 </div> 419 </div> 420 <div class="faq-item"> 421 <div class="faq-header toggle"> 422 <h3>8) What are spinal muscular atrophy (SMA) symptoms in carriers?</h3> 423 </div> 424 <div class="faq-body"> 425 <p>SMA is a recessive disease, therefore heterogenous carriers are unaffected, showing no symptoms of the disease<sup>1</sup></p> 426 <p>Carriers are typically unaware of their status until they have a child with SMA, unless there is a family history of the disease<sup>2</sup></p> 427 <p>More than 1 in 58 people are carriers of the disease mutation<sup>3</sup></p> 428 429 <div class="faq-references"> 430 <div class="toggle">References</div> 431 <ul> 432 <li><strong>1.</strong> Verhaart IEC, <i>et al.</i> <i>Orphanet J Rare Dis.</i> 2017;12:124.</li> 433 <li><strong>2.</strong> Prior TW, Leach ME, Finanger E. <i>Spinal Muscular Atrophy.</i> 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al.</i>, editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020.</li> 434 <li><strong>3.</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> <i>Orphanet J Rare Dis.</i> 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> 435 </ul> 436 </div> 437 </div> 438 </div> 439 <div class="faq-item"> 440 <div class="faq-header toggle"> 441 <h3>9) What is the incidence of spinal muscular atrophy (SMA)?</h3> 442 </div> 443 <div class="faq-body"> 444 <p>SMA is a rare condition affecting approximately 1 in 10,000â12,000 live births, and can impact any race or sex.<sup>1,2</sup> More than 1 in 58 people are carriers of the disease mutation<sup>3</sup></p> 445 446 <div class="faq-references"> 447 <div class="toggle">References</div> 448 <ul> 449 <li><strong>1.</strong> Verhaart IEC, <i>et al.</i> <i>Orphanet J Rare Dis.</i> 2017;12:124. </li> 450 <li><strong>2.</strong> Richter T, <i>et al.</i> <i>Value Health.</i> 2015;18(6):906â14.</li> 451 <li><strong>3.</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> <i>Orphanet J Rare Dis.</i> 2017;12:124. Available at: https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0671-8. Date accessed: November 2023.</li> 452 </ul> 453 </div> 454 </div> 455 </div> 456 <div class="faq-item"> 457 <div class="faq-header toggle"> 458 <h3>10) Is spinal muscular atrophy (SMA) more common in males or females?</h3> 459 </div> 460 <div class="faq-body"> 461 <p>SMA is an autosomal recessive condition, this type of inheritance pattern typically affects males and females equally<sup>1,2</sup></p> 462 463 <div class="faq-references"> 464 <div class="toggle">References</div> 465 <ul> 466 <li><strong>1.</strong> Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2019 Nov
46614]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al</i>., editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020.</li> 467 <li><strong>2.</strong> Gulani A and Weiler T. Genetics, Autosomal Recessive. 2021 Jan [Updated 2021 May]. In StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan. </li> 468 </ul> 469 </div> 470 </div> 471 </div> 472 <div class="faq-item"> 473 <div class="faq-header toggle"> 474 <h3>11) What are the early symptoms of spinal muscular atrophy (SMA)?</h3> 475 </div> 476 <div class="faq-body"> 477 <p>The early signs of SMA are important to look out for<sup>1</sup></p> 478 <p>As a healthcare professional, you are uniquely placed to spot whether a baby is developing as they should, whether this is at a routine check-up, or if parents or caregivers raise any concerns<sup>2</sup></p> 479 480 <p class="font-weight-bold">For babies aged 0â6 months:<sup>2</sup></p> 481 <ul> 482 <li><span>Hypotonia<sup>3,4</sup></span></li> 483 <li><span>Areflexia<sup>1</sup></span></li> 484 <li><span>Head lag<sup>5</sup></span></li> 485 <li><span>Difficulty breathing<sup>4</sup></span></li> 486 <li><span>Difficulty swallowing<sup>3,6</sup></span></li> 487 <li><span>Tongue fasciculation<sup>1,3,6</sup></span></li> 488 <li><span>Weak cry and cough<sup>6</sup></span></li> 489 </ul> 490 491 <p class="font-weight-bold">For babies aged 6â18 months:<sup>1</sup></p> 492 <ul> 493 <li><span>Hypotonia<sup>3</sup></span></li> 494 <li><span>Areflexia<sup>1,3</sup></span></li> 495 <li><span>Fine tremor<sup>6</sup></span></li> 496 <li><span>Progressive scoliosis and joint contractures<sup>1,3,6,7</sup></span></li> 497 <li><span>Respiratory symptoms<sup>1</sup></span></li> 498 <li><span>Delayed/lost motor milestones<sup>1,6</sup></span></li> 499 </ul> 500 <p>Babies with these signs remain alert, attentive and cognition is not affected<sup>3</sup></p> 501 <p><a href="https://www.signsofsma.com/hcp-spinal-muscular-atrophy-symptoms">Click here</a> for more information about the signs and symptoms</p> 502 503 <div class="faq-references"> 504 <div class="toggle">References</div> 505 <ul> 506 <li><strong>1.</strong> Prior TW, Leach ME, Finanger E. <i>Spinal Muscular Atrophy.</i> 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al</i>., editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020.</li> 507 <li><strong>2.</strong> Qian Y, <i>et al</i>. <i>BMC Neurol.</i> 2015;15:217.</li> 508 <li><strong>3.</strong> Kolb SJ and Kissel JT. <i>Neurol Clin.</i> 2015;33(4):831â46.</li> 509 <li><strong>4.</strong> Pera MC, <i>et al</i>. <i>PLoS One.</i> 2020;15(3):e0230677.</li> 510 <li><strong>5.</strong> Markowitz JA, <i>et al</i>. <i>J Obstet Gynecol Neonatal Nurs.</i> 2004;33:12â20.</li> 511 <li><strong>6.</strong> Wang CH, <i>et al</i>. <i>J Child Neurol.</i> 2007;22(8):1027â49.</li> 512 <li><strong>7.</strong> Fujak A, <i>et al</i>. <i>BMC Musculoskelet Disord.</i> 2013 Oct 4;14:283.</li> 513 </ul> 514 </div> 515 </div> 516 </div> 517 <div class="faq-item"> 518 <div class="faq-header toggle"> 519 <h3>12) What are the symptoms of spinal muscular atrophy (SMA) in adults?</h3> 520 </div> 521 <div class="faq-body"> 522 <p>In adults with SMA Type 4, the onset of weakness is usually in the second or third decade of life. Motor impairment is mild in these patients, without respiratory or gastrointestinal problems<sup>1</sup></p> 523 524 <div class="faq-references"> 525 <div class="toggle">Reference</div> 526 <ul> 527 <li><strong>1.</strong> Wang CH, <i>et al</i>. <i>J Child Neurol.</i> 2007;22(8):1027â49.</li> 528 </ul> 529 </div> 530 </div> 531 </div> 532 <div class="faq-item"> 533 <div class="faq-header toggle"> 534 <h3>13) What causes hypotonia in spinal muscular atrophy (SMA)? </h3> 535 </div> 536 <div class="faq-body"> 537 <p>SMN protein deficiency in SMA leads to irreversible neuronal degeneration and loss of muscle function and weakness, meaning children with SMA will present with hypotonia<sup>1â4</sup></p> 538 539 <div class="faq-references"> 540 <div class="toggle">References</div> 541 <ul> 542 <li><strong>1.</strong> Glascock J, <i>et al</i>. <i>J Neuromuscul Dis.</i> 2018;5(2):145â58. </li> 543 <li><strong>2.</strong> Coovert DD, <i>et al</i>. <i>Hum Mol Genet.</i> 1997;6(8):1205â14. </li> 544 <li><strong>3.</strong> Anderton RS and Mastaglia FL. <i>Expert Rev Neurother.</i> 2015;
54415(8):895â908. </li> 545 <li><strong>4.</strong> Kolb SJ and Kissel JT. <i>Neurol Clin.</i> 2015;33(4):831â46.</li> 546 </ul> 547 </div> 548 </div> 549 </div> 550 <div class="faq-item"> 551 <div class="faq-header toggle"> 552 <h3>14) What is fasciculation of the tongue? </h3> 553 </div> 554 <div class="faq-body"> 555 <p>Tongue fasciculations, is a twitching of the tongue, which is often seen together with atrophy<sup>1â4</sup></p> 556 557 <div class="faq-references"> 558 <div class="toggle">References</div> 559 <ul> 560 <li><strong>1.</strong> Kolb SJ and Kissel JT. <i>Neurol Clin.</i> 2015;33(4):831â46.</li> 561 <li><strong>2.</strong> Prior TW, Leach ME, Finanger E. <i>Spinal Muscular Atrophy.</i> 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al</i>., editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020. </li> 562 <li><strong>3.</strong> Wang CH, <i>et al</i>. <i>J Child Neurol.</i> 2007;22(8):1027â49.</li> 563 <li><strong>4.</strong> Emmady PD and Bodle J. Werdnig Hoffmann Disease. [Updated 2022 Jun 5]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan. Available from: <a href="https://www.ncbi.nlm.nih.gov/books/NBK558933/" target="_blank">https://www.ncbi.nlm.nih.gov/books/NBK558933/</a>. Date accessed: November 2023.</li> 564 </ul> 565 </div> 566 </div> 567 </div> 568 <div class="faq-item"> 569 <div class="faq-header toggle"> 570 <h3>15) What is areflexia?</h3> 571 </div> 572 <div class="faq-body"> 573 <p>Areflexia is the reduction or absence of deep tendon reflexes<sup>1â3</sup></p> 574 <div class="faq-references"> 575 <div class="toggle">References</div> 576 <ul> 577 <li><strong>1.</strong> Kolb SJ and Kissel JT. <i>Neurol Clin.</i> 2015;33(4):831â46.</li> 578 <li><strong>2.</strong> Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al</i>., editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020.</li> 579 <li><strong>3.</strong> Goswami JN, <i>et al</i>. <i>Indian J Pediatr.</i> 2018;85(8):702.</li> 580 </ul> 581 </div> 582 </div> 583 </div> 584 <div class="faq-item"> 585 <div class="faq-header toggle"> 586 <h3>16) Can you cure spinal muscular atrophy (SMA)?</h3> 587 </div> 588 <div class="faq-body"> 589 <p>There is currently no cure for SMA.<sup>1</sup> However, there are treatments available that can modify disease outcomes for patients<sup>2,3</sup></p> 590 591 <div class="faq-references"> 592 <div class="toggle">References</div> 593 <ul> 594 <li><strong>1.</strong> Spinal Muscular Atrophy UK (2023). Drug Treatments & Screening â Whatâs Happening Now? Available at: <a href="https://smauk.org.uk/drug-treatments-screening-whats-happening-now" target="_blank">https://smauk.org.uk/drug-treatments-screening-whats-happening-now</a>. Date accessed: November 2023.</li> 595 <li><strong>2.</strong> Schorling DC, <i>et al.</i> <i>J Neuromuscl Dis.</i> 2020;7:1â13.</li> 596 <li><strong>3.</strong> Kirschner J, <i>et al.</i> <i>Eur J Paediatr Neurol.</i> 2020 ;28:38â43. </li> 597 </ul> 598 </div> 599 </div> 600 </div> 601 <div class="faq-item"> 602 <div class="faq-header toggle"> 603 <h3>17) Is there a treatment for spinal muscular atrophy (SMA)?</h3> 604 </div> 605 <div class="faq-body"> 606 <p>Yes, there are medications approved for use to treat SMA.<sup>1â3</sup> Speak to a specialist for more information about treatment options and patient care<sup>1</sup></p> 607 608 <div class="faq-references"> 609 <div class="toggle">References</div> 610 <ul> 611 <li><strong>1.</strong> Glascock J, <i>et al</i>. <i>J Neuromuscul Dis.</i> 2018;5(2):145â58.</li> 612 </ul> 613 </div> 614 </div> 615 </div> 616 <div class="faq-item"> 617 <div class="faq-header toggle"> 618 <h3>18) How do you test for spinal muscular atrophy (SMA)?</h3> 619 </div> 620 <div class="faq-body"> 621 <p>The diagnosis of SMA is based on molecular genetic testing. Genetic testing of survival motor neuron 1/2 (<i>SMN1</i>/<i>SMN2</i>) is highly reliable and should be the first line of investigation if SMA is suspected. Unless there is a family history, diagnosis is generally prompted by the clinical signs of SMA<sup>1</sup></p> 622 <p>Genetic testing is carried out via quantitative analysis of both <i>SMN1</i> and <i>SMN2</i> using multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR) or next generation sequencing (NGS)<sup>1</sup></p> 623 <p>The absence of both full <i>SMN1</i> copies provides a diagnosis of SMA. If only 1 full copy is present and clinical phenotype is compatible with SMA, the remaining <i>SMN1</i> gene should be sequenced looking for other subtle mutations<sup>1</sup></p> 624 <p>The number of <i>SMN2</i> copies is not essential to reach a diagnosis of SMA but should be assessed as an important factor influencing the severity of the SMA phenotype<sup>1</sup></p> 625 626 <div class="faq-references"> 627 <div class="toggle">Reference</div> 628 <ul> 629 <li><strong>1.</strong> Mercuri E, <i>et al</i>. <i>Neuromuscul Disord.</i> 2018;28(2):103â15.</li> 630 </ul> 631 </div> 632 </div> 633 </div> 634 <div class="faq-item"> 635 <div class="faq-header toggle"> 636 <h3>19) Can spinal muscular atrophy (SMA) be detected during pregnancy?</h3> 637 </div> 638 <div class="faq-body"> 639 <p>Yes, prenatal testing for pregnancies at increased risk is possible if the diagnosis of SMA has been confirmed by molecular genetic testing in an affected family member </p> 640 <p>Although it would be predicted that a fetus with the same genotype (i.e., molecular genetic test result) as a previously affected sibling would have similar clinical findings, there can be intrafamilial variability in phenotypic presentation </p> 641 <p>An survival motor neuron 2 (<i>SMN2</i>) copy number determination on the prenatal specimen may help to better predict the phenotype of the affected child. Interpretation of test results and prediction of clinical findings in an affected child may be difficult and should be done in the context of formal genetic counseling<sup>1</sup></p> 642 643 <div class="faq-references"> 644 <div class="toggle">Reference</div> 645 <ul> 646 <li><strong>1.</strong> Prior TW, Leach ME, Finanger E. <i>Spinal Muscular Atrophy.</i>
646 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al</i>., editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020. </li> 647 </ul> 648 </div> 649 </div> 650 </div> 651 <div class="faq-item"> 652 <div class="faq-header toggle"> 653 <h3>20) What is the life expectancy of a child with spinal muscular atrophy (SMA)?</h3> 654 </div> 655 <div class="faq-body"> 656 <p>This depends on the type of SMA the child has and whether they are receiving any disease-modifying therapies<sup>1</sup></p> 657 658 <p>Typical life expectancy in untreated SMA:<sup>1â3</sup></p> 659 <ul> 660 <li><span>Type 1: <2 years</span></li> 661 <li><span>Type 2: 70% alive at 25 years</span></li> 662 <li><span>Type 3: Normal </span></li> 663 <li><span>Type 4: Normal </span></li> 664 </ul> 665 <p>As current therapies are novel, how these will impact life expectancies for the different SMA types is not yet clear<sup>1</sup></p> 666 667 <div class="faq-references"> 668 <div class="toggle">References</div> 669 <ul> 670 <li><strong>1.</strong> Prior TW, Leach ME, Finanger E. <i>Spinal Muscular Atrophy.</i> 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al</i>., editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020. </li> 671 <li><strong>2.</strong> Kolb SJ and Kissel JT.<i> Neurol Clin.</i> 2015;33(4):831â46.</li> 672 <li><strong>3.</strong> Wang CH, <i>et al</i>. <i>J Child Neurol.</i> 2007;22(8):1027â49.</li> 673 </ul> 674 </div> 675 </div> 676 </div> 677 <div class="faq-item"> 678 <div class="faq-header toggle"> 679 <h3>21) Spinal muscular atrophy (SMA) differential diagnosis vs: Duchenne muscular dystrophy; amyotrophic lateral sclerosis (ALS); cerebral palsy </h3> 680 </div> 681 <div class="faq-body"> 682 <p>Certain signs of SMA are readily identifiable, but symptoms can overlap with other common infantile neuromuscular diseases (NMDs)<sup>1,2</sup></p> 683 <p>Hypotonia is the most common reason for referral in children with NMDs but other signs and symptoms are often described by parents of children with suspected NMDs<sup>1</sup></p> 684 <p>Disorders to consider in the differential diagnosis of SMA:<sup>3</sup></p> 685 686 687 <p class="font-weight-bold">Duchenne muscular dystrophy:<sup>3</sup></p> 688 <ul> 689 <li><span>Signs in common: muscle weakness and motor regression </span></li> 690 <li><span>Signs distinct: serum creatine kinase concentration >10â20x normal</span></li> 691 </ul> 692 693 <p class="font-weight-bold">Amyotrophic lateral sclerosis (ALS):<sup>3</sup></p> 694 <ul> 695 <li><span>Signs in common: often begins with lower motor neuron signs</span></li> 696 <li><span>Signs distinct: onset in adulthood only, progressive neurodegeneration involves both the upper and lower motor neurons </span></li> 697 </ul> 698 699 <p class="font-weight-bold">Cerebral palsy:<sup>3,4</sup></p> 700 <ul> 701 <li><span>Signs in common: hypotonia and weakness, delay in motor development</span></li> 702 <li><span>Signs distinct: spasticity, dystonia, ataxia, choreoathetosis, hyperreflexia and incoordination </span></li> 703 </ul> 704 705 <div class="faq-references"> 706 <div class="toggle">References</div> 707 <ul> 708 <li><strong>1.</strong> McDonald CM. <i>Phys Med Rehabil Clin N Am.</i> 2012;23(3):495â563. </li> 709 <li><strong>2.</strong> Lee HN and Lee Y-M. <i>J Genet Med.</i> 2018;15(2):55â63.</li> 710 <li><strong>3.</strong> Prior TW, Leach ME, Finanger E. <i>Spinal Muscular Atrophy.</i> 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, <i>et al</i>., editors. GeneReviews<sup>®</sup> [Internet]. Seattle (WA): University of Washington, Seattle; 1993â2020. </li> 711 <li><strong>4.</strong> Hallman-Cooper JL and Rocha Cabrero F. <i>Cerebral Palsy.</i> 2021 Jan [Updated 2021 April]. In StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan.</li> 712 </ul> 713 </div> 714 </div> 715 </div> 716</div> </div> 717 </div> 718 </div> 719 720 <div class="container px-0 page-container"> 721 <footer class="footer row pb-xs-30 mx-xs-0"> 722
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