{"id":5809,"date":"2023-10-27T15:32:32","date_gmt":"2023-10-27T13:32:32","guid":{"rendered":"https:\/\/afkp.fr\/?p=5809"},"modified":"2023-11-30T23:09:44","modified_gmt":"2023-11-30T22:09:44","slug":"lamyotrophie-spinale-infantile-asi-ou-sma","status":"publish","type":"post","link":"https:\/\/afkp.fr\/index.php\/2023\/10\/27\/lamyotrophie-spinale-infantile-asi-ou-sma\/","title":{"rendered":"L&rsquo;Amyotrophie Spinale Infantile (ASI ou SMA)"},"content":{"rendered":"<div style=\"margin-top: 0px; margin-bottom: 0px;\" class=\"sharethis-inline-share-buttons\" ><\/div>\n<h3 class=\"wp-block-heading has-text-align-left has-white-color has-text-color has-background\" style=\"background-color:#237585\">Un diagnostic pr\u00e9coce favorise les meilleurs traitements, et dans certains cas, peut sauver des vies<\/h3>\n\n\n\n<p class=\"has-background\" style=\"background-color:#fadecc\">Les kin\u00e9sith\u00e9rapeutes p\u00e9diatriques re\u00e7oivent de nombreux nourrissons porteurs de troubles du neuro-d\u00e9veloppement. Dans le contexte actuel de p\u00e9nurie de p\u00e9diatre sur certains territoires, le r\u00f4le du kin\u00e9sith\u00e9rapeute dans l&rsquo;\u00e9valuation du tonus du nourrisson est un outil suppl\u00e9mentaire dans l&rsquo;aide au diagnostic de l&rsquo;ASI pour permettre l&rsquo;inclusion d&rsquo;une enfant dans le meilleurs parcours de soins.<br><br>C&rsquo;est pourquoi l&rsquo;hypotonie du jeune enfant n\u00e9cessite la plus grande attention des professionnels et doit b\u00e9n\u00e9ficier de la meilleure \u00e9valuation, afin de ne pas passer inaper\u00e7u ou \u00eatre mal \u00e9valu\u00e9e.<br><br>Dans cet article, nous traiterons de l&rsquo;ASI et des signes de d\u00e9pistage, \u00e0 v\u00e9rifier en cas de doutes, notamment face \u00e0 un nourrisson hypotonique. En cas de suspicion, il est primordial d&rsquo;orienter en urgence le nourrisson vers une consultation au centre de r\u00e9f\u00e9rence le plus proche.<\/p>\n\n\n\n<div class=\"wp-block-uagb-buttons uagb-buttons__outer-wrap uagb-btn__default-btn uagb-btn-tablet__default-btn uagb-btn-mobile__default-btn uagb-block-782a3190\"><div class=\"uagb-buttons__wrap uagb-buttons-layout-wrap\">\n<div class=\"wp-block-uagb-buttons-child uagb-buttons__outer-wrap uagb-block-f205820a wp-block-button\"><div class=\"uagb-button__wrapper\"><a class=\"uagb-buttons-repeater wp-block-button__link\" href=\"https:\/\/www.filnemus.fr\/carte-interactive\/ou-consulter\" onclick=\"return true;\" rel=\"follow noopener\" target=\"_blank\"><span class=\"uagb-button__icon uagb-button__icon-position-before\"><svg xmlns=\"https:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 640 512\"><path d=\"M172.5 131.1C228.1 75.51 320.5 75.51 376.1 131.1C426.1 181.1 433.5 260.8 392.4 318.3L391.3 319.9C381 334.2 361 337.6 346.7 327.3C332.3 317 328.9 297 339.2 282.7L340.3 281.1C363.2 249 359.6 205.1 331.7 177.2C300.3 145.8 249.2 145.8 217.7 177.2L105.5 289.5C73.99 320.1 73.99 372 105.5 403.5C133.3 431.4 177.3 435 209.3 412.1L210.9 410.1C225.3 400.7 245.3 404 255.5 418.4C265.8 432.8 262.5 452.8 248.1 463.1L246.5 464.2C188.1 505.3 110.2 498.7 60.21 448.8C3.741 392.3 3.741 300.7 60.21 244.3L172.5 131.1zM467.5 380C411 436.5 319.5 436.5 263 380C213 330 206.5 251.2 247.6 193.7L248.7 192.1C258.1 177.8 278.1 174.4 293.3 184.7C307.7 194.1 311.1 214.1 300.8 229.3L299.7 230.9C276.8 262.1 280.4 306.9 308.3 334.8C339.7 366.2 390.8 366.2 422.3 334.8L534.5 222.5C566 191 566 139.1 534.5 108.5C506.7 80.63 462.7 76.99 430.7 99.9L429.1 101C414.7 111.3 394.7 107.1 384.5 93.58C374.2 79.2 377.5 59.21 391.9 48.94L393.5 47.82C451 6.731 529.8 13.25 579.8 63.24C636.3 119.7 636.3 211.3 579.8 267.7L467.5 380z\"><\/path><\/svg><\/span><div class=\"uagb-button__link\">Centres de r\u00e9f\u00e9rence &#8211; consultation<\/div><\/a><\/div><\/div>\n<\/div><\/div>\n\n\n\n<h4 class=\"wp-block-heading\"><p>Et s&rsquo;il \u00e9tait urgent d&rsquo;orienter vers une recherche diagnostic ?<\/p><\/h4>\n\n\n\n<p>D\u00e8s les premiers mois de vie, soyons vigilants pour rep\u00e9rer les signes d&rsquo;alerte d&rsquo;une amyotrophie spinale (SMA) !<br><br>Pour les b\u00e9b\u00e9s atteints de SMA, un diagnostic pr\u00e9coce est primordial, et potentiellement vital. En effet, toute l\u00e9sion des motoneurones inf\u00e9rieurs survenant avant le traitement est irr\u00e9versible (1,3).<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:70%\">\n<h3 class=\"wp-block-heading has-white-color has-text-color has-background\" style=\"background-color:#237585\">D\u00e9couvrez l&rsquo;Amyotrophie Spinale en Podcast<\/h3>\n\n\n\n<p>La cha\u00eene \u201cRARE \u00e0 l\u2019\u00e9coute\u201d a r\u00e9alis\u00e9&nbsp;en collaboration avec la Fili\u00e8re Filnemus&nbsp;<strong>5 \u00e9pisodes&nbsp;<\/strong>de&nbsp;podcast d\u00e9di\u00e9 \u00e0 l&rsquo;amyotrophie spinale infantile.&nbsp;<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-embed is-type-rich is-provider-spotify wp-block-embed-spotify wp-embed-aspect-21-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/open.spotify.com\/episode\/1HSc1TqpVUgmfZ7L48vcWR\n<\/div><\/figure>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-embed is-type-rich is-provider-spotify wp-block-embed-spotify wp-embed-aspect-21-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/open.spotify.com\/episode\/2FuWDHnlvity2QukNKV0Gn\n<\/div><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-embed is-type-rich is-provider-spotify wp-block-embed-spotify wp-embed-aspect-21-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\nhttps:\/\/open.spotify.com\/episode\/3gniGf44PsZCI3wGNkbFgx\n<\/div><\/figure>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-embed is-type-rich is-provider-spotify wp-block-embed-spotify wp-embed-aspect-21-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe title=\"Spotify Embed: Prendre en charge une Amyotrophie Spinale infantile\" style=\"border-radius: 12px\" width=\"100%\" height=\"152\" frameborder=\"0\" allowfullscreen allow=\"autoplay; clipboard-write; encrypted-media; fullscreen; picture-in-picture\" loading=\"lazy\" src=\"https:\/\/open.spotify.com\/embed\/episode\/3rg4YRYBUkAXI8Lru1iVRf?utm_source=oembed\"><\/iframe>\n<\/div><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<figure class=\"wp-block-embed is-type-rich is-provider-spotify wp-block-embed-spotify wp-embed-aspect-21-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe title=\"Spotify Embed: Vivre avec une Amyotrophie Spinale infantile\" style=\"border-radius: 12px\" width=\"100%\" height=\"152\" frameborder=\"0\" allowfullscreen allow=\"autoplay; clipboard-write; encrypted-media; fullscreen; picture-in-picture\" loading=\"lazy\" src=\"https:\/\/open.spotify.com\/embed\/episode\/7yXpfUJXiumqb6MZ8n3BHz?utm_source=oembed\"><\/iframe>\n<\/div><\/figure>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:30%\"><figure class=\"wp-block-post-featured-image\"><img fetchpriority=\"high\" decoding=\"async\" width=\"800\" height=\"800\" src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Image.jpg\" class=\"attachment-post-thumbnail size-post-thumbnail wp-post-image\" alt=\"\" style=\"object-fit:cover;\" srcset=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Image.jpg 800w, https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Image-300x300.jpg 300w, https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Image-150x150.jpg 150w, https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Image-768x768.jpg 768w, https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Image-500x500.jpg 500w\" sizes=\"(max-width: 800px) 100vw, 800px\" \/><\/figure><\/div>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading has-white-color has-text-color has-background\" style=\"background-color:#237585\">Qu&rsquo;est-ce que la SMA ?<\/h3>\n\n\n\n<p>La SMA est une maladie monog\u00e9nique rare, neurod\u00e9g\u00e9n\u00e9rative, caract\u00e9ris\u00e9e par une d\u00e9g\u00e9n\u00e9rescence des motoneurones de la corne ant\u00e9rieure de la moelle \u00e9pini\u00e8re (1).<\/p>\n\n\n\n<p>La SMA est la 2<sup>e<\/sup>&nbsp;maladie autosomique r\u00e9cessive fatale la plus fr\u00e9quente apr\u00e8s la mucoviscidose (4), elle est la principale cause g\u00e9n\u00e9tique de mortalit\u00e9 infantile (1))<\/p>\n\n\n\n<div class=\"wp-block-columns is-not-stacked-on-mobile is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<p class=\"has-ast-global-color-2-color has-text-color has-background\" style=\"background-color:#fcbf5c\">La SMA affecte environ 1\/10 000 naissances, quels que soient le sexe ou l\u2019origine ethnique (1)<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<p class=\"has-ast-global-color-2-color has-text-color has-background\" style=\"background-color:#fcbf5c\">1 sujet sur 54 est porteur de l\u2019anomalie g\u00e9n\u00e9tique : une mutation ou une d\u00e9l\u00e9tion du g\u00e8ne&nbsp;<em>SMN1<\/em> (1)<\/p>\n<\/div>\n<\/div>\n\n\n\n<p>La SMA est g\u00e9n\u00e9ralement class\u00e9e en 4 ph\u00e9notypes (Types 1-4) en fonction de l\u2019\u00e2ge au d\u00e9but des sympt\u00f4mes et de la fonction motrice la plus \u00e9lev\u00e9e atteinte. Les SMA de types 1 et 2 sont les formes les plus graves et les plus fr\u00e9quentes avec un d\u00e9but des sympt\u00f4mes le plus souvent vers l&rsquo;\u00e2ge de 3 mois, pouvant aller jusqu&rsquo;\u00e0 l&rsquo;\u00e2ge de 18 mois (1, 23)<\/p>\n\n\n\n<div class=\"wp-block-uagb-buttons uagb-buttons__outer-wrap uagb-btn__default-btn uagb-btn-tablet__default-btn uagb-btn-mobile__default-btn uagb-block-5939e3a0\"><div class=\"uagb-buttons__wrap uagb-buttons-layout-wrap\">\n<div class=\"wp-block-uagb-buttons-child uagb-buttons__outer-wrap uagb-block-32c08de0 wp-block-button\"><div class=\"uagb-button__wrapper\"><a class=\"uagb-buttons-repeater wp-block-button__link\" href=\"https:\/\/www.chu-lyon.fr\/amyotrophie-spinale-sma#toc--quels-sont-les-diff-rents-types-de-sma-quels-sont-les-premiers-signes-\" onclick=\"return true;\" rel=\"follow noopener\" target=\"_blank\"><span class=\"uagb-button__icon uagb-button__icon-position-before\"><svg xmlns=\"https:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 640 512\"><path d=\"M172.5 131.1C228.1 75.51 320.5 75.51 376.1 131.1C426.1 181.1 433.5 260.8 392.4 318.3L391.3 319.9C381 334.2 361 337.6 346.7 327.3C332.3 317 328.9 297 339.2 282.7L340.3 281.1C363.2 249 359.6 205.1 331.7 177.2C300.3 145.8 249.2 145.8 217.7 177.2L105.5 289.5C73.99 320.1 73.99 372 105.5 403.5C133.3 431.4 177.3 435 209.3 412.1L210.9 410.1C225.3 400.7 245.3 404 255.5 418.4C265.8 432.8 262.5 452.8 248.1 463.1L246.5 464.2C188.1 505.3 110.2 498.7 60.21 448.8C3.741 392.3 3.741 300.7 60.21 244.3L172.5 131.1zM467.5 380C411 436.5 319.5 436.5 263 380C213 330 206.5 251.2 247.6 193.7L248.7 192.1C258.1 177.8 278.1 174.4 293.3 184.7C307.7 194.1 311.1 214.1 300.8 229.3L299.7 230.9C276.8 262.1 280.4 306.9 308.3 334.8C339.7 366.2 390.8 366.2 422.3 334.8L534.5 222.5C566 191 566 139.1 534.5 108.5C506.7 80.63 462.7 76.99 430.7 99.9L429.1 101C414.7 111.3 394.7 107.1 384.5 93.58C374.2 79.2 377.5 59.21 391.9 48.94L393.5 47.82C451 6.731 529.8 13.25 579.8 63.24C636.3 119.7 636.3 211.3 579.8 267.7L467.5 380z\"><\/path><\/svg><\/span><div class=\"uagb-button__link\">En savoir plus sur la SMA &#8211; Hopitaux de Lyon<\/div><\/a><\/div><\/div>\n\n\n\n<div class=\"wp-block-uagb-buttons-child uagb-buttons__outer-wrap uagb-block-f55508d9 wp-block-button\"><div class=\"uagb-button__wrapper\"><a class=\"uagb-buttons-repeater wp-block-button__link\" href=\"https:\/\/www.has-sante.fr\/jcms\/p_3245042\/fr\/amyotrophie-spinale-infantile\" onclick=\"return true;\" rel=\"follow noopener\" target=\"_blank\"><span class=\"uagb-button__icon uagb-button__icon-position-before\"><svg xmlns=\"https:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 640 512\"><path d=\"M172.5 131.1C228.1 75.51 320.5 75.51 376.1 131.1C426.1 181.1 433.5 260.8 392.4 318.3L391.3 319.9C381 334.2 361 337.6 346.7 327.3C332.3 317 328.9 297 339.2 282.7L340.3 281.1C363.2 249 359.6 205.1 331.7 177.2C300.3 145.8 249.2 145.8 217.7 177.2L105.5 289.5C73.99 320.1 73.99 372 105.5 403.5C133.3 431.4 177.3 435 209.3 412.1L210.9 410.1C225.3 400.7 245.3 404 255.5 418.4C265.8 432.8 262.5 452.8 248.1 463.1L246.5 464.2C188.1 505.3 110.2 498.7 60.21 448.8C3.741 392.3 3.741 300.7 60.21 244.3L172.5 131.1zM467.5 380C411 436.5 319.5 436.5 263 380C213 330 206.5 251.2 247.6 193.7L248.7 192.1C258.1 177.8 278.1 174.4 293.3 184.7C307.7 194.1 311.1 214.1 300.8 229.3L299.7 230.9C276.8 262.1 280.4 306.9 308.3 334.8C339.7 366.2 390.8 366.2 422.3 334.8L534.5 222.5C566 191 566 139.1 534.5 108.5C506.7 80.63 462.7 76.99 430.7 99.9L429.1 101C414.7 111.3 394.7 107.1 384.5 93.58C374.2 79.2 377.5 59.21 391.9 48.94L393.5 47.82C451 6.731 529.8 13.25 579.8 63.24C636.3 119.7 636.3 211.3 579.8 267.7L467.5 380z\"><\/path><\/svg><\/span><div class=\"uagb-button__link\">Recommandations HAS<\/div><\/a><\/div><\/div>\n\n\n\n<div class=\"wp-block-uagb-buttons-child uagb-buttons__outer-wrap uagb-block-03da0cb1 wp-block-button\"><div class=\"uagb-button__wrapper\"><a class=\"uagb-buttons-repeater wp-block-button__link\" href=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Brochure-signes-de-la-SMA.pdf\" onclick=\"return true;\" rel=\"follow noopener\" target=\"_blank\"><span class=\"uagb-button__icon uagb-button__icon-position-before\"><svg xmlns=\"https:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 512 512\"><path d=\"M480 352h-133.5l-45.25 45.25C289.2 409.3 273.1 416 256 416s-33.16-6.656-45.25-18.75L165.5 352H32c-17.67 0-32 14.33-32 32v96c0 17.67 14.33 32 32 32h448c17.67 0 32-14.33 32-32v-96C512 366.3 497.7 352 480 352zM432 456c-13.2 0-24-10.8-24-24c0-13.2 10.8-24 24-24s24 10.8 24 24C456 445.2 445.2 456 432 456zM233.4 374.6C239.6 380.9 247.8 384 256 384s16.38-3.125 22.62-9.375l128-128c12.49-12.5 12.49-32.75 0-45.25c-12.5-12.5-32.76-12.5-45.25 0L288 274.8V32c0-17.67-14.33-32-32-32C238.3 0 224 14.33 224 32v242.8L150.6 201.4c-12.49-12.5-32.75-12.5-45.25 0c-12.49 12.5-12.49 32.75 0 45.25L233.4 374.6z\"><\/path><\/svg><\/span><div class=\"uagb-button__link\">Brochure signes de la SMA.PDF <\/div><\/a><\/div><\/div>\n<\/div><\/div>\n\n\n\n<h3 class=\"wp-block-heading has-white-color has-text-color has-background\" style=\"background-color:#237585\">La SMA Type 1 (0-6 mois) : signes d&rsquo;alerte<\/h3>\n\n\n\n<p>La SMA de Type 1 est une maladie rapidement \u00e9volutive conduisant au d\u00e9c\u00e8s ou \u00e0 une ventilation permanente avant l&rsquo;\u00e2ge de 2 ans pour plus de 90 % des patients non trait\u00e9s (22).<\/p>\n\n\n\n<p class=\"has-text-align-center has-background has-medium-font-size\" style=\"background-color:#fadecc\"><strong>Les b\u00e9b\u00e9s pr\u00e9sentant ces signes restent alertes, attentifs et leur \u00e9tat cognitif n&rsquo;est pas affect\u00e9 (2).<\/strong><\/p>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0;padding-bottom:0;font-style:normal;font-weight:200\">Hypotonie (2, 5)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li>Un b\u00e9b\u00e9 souffrant d&rsquo;hypotonie est souvent d\u00e9crit&nbsp;<strong>comme \u00ab&nbsp;flasque&nbsp;\u00bb&nbsp;<\/strong>en raison de&nbsp;<strong>la faiblesse de ses bras et de ses jambes<\/strong> (2,5)<\/li>\n\n\n\n<li><strong>Une faiblesse sym\u00e9trique plus proximale que distale<\/strong>&nbsp;signifie qu&rsquo;un b\u00e9b\u00e9 aura de&nbsp;<strong>la difficult\u00e9 \u00e0 soulever ses bras et ses jambes<\/strong>, mais conservera l&rsquo;usage de ses mains et de ses doigts (6)<\/li>\n\n\n\n<li><strong>Les jambes du nourrisson<\/strong>&nbsp;peuvent sembler&nbsp;<strong>plus faibles que ses bras<\/strong> (6)<\/li>\n\n\n\n<li>Dans certains cas, le nourrisson peut avoir&nbsp;<strong>en position allong\u00e9e une posture en \u00ab&nbsp;jambes de grenouille&nbsp;\u00bb<\/strong> (2)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-video\"><video height=\"1080\" style=\"aspect-ratio: 1920 \/ 1080;\" width=\"1920\" controls src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Lhypotonie-chez-lenfant-de-0-a-6-mois-est-lun-des-symptomes-de-latrophie-musculaire-spinale-SMA-de-type-1.mp4\"><\/video><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Ar\u00e9flexie (4)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-video\"><video height=\"1080\" style=\"aspect-ratio: 1920 \/ 1080;\" width=\"1920\" controls src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/2-Lareflexie-chez-lenfant-de-0-a-6-mois-est-lun-des-symptomes-de-latrophie-musculaire-spinale-SMA-de-type-1.mp4\"><\/video><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li>L<strong>es r\u00e9flexes ost\u00e9o-tendineux absents ou r\u00e9duits sont caract\u00e9ristiques de la SMA<\/strong>&nbsp;et constituent une partie essentielle de l&rsquo;examen clinique du nourrisson en cas d&rsquo;hypotonie (2, 4, 7)<\/li>\n\n\n\n<li>L&rsquo;\u00e9valuation des r\u00e9flexes ost\u00e9o-tendineux peut \u00eatre r\u00e9alis\u00e9e par une observation attentive de la r\u00e9action du b\u00e9b\u00e9 \u00e0 la percussion des tendons avec un marteau sp\u00e9cialis\u00e9 (8)<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Contr\u00f4le de la t\u00eate absent ou incomplet<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li>Si un nourrisson semble&nbsp;<strong>incapable de lever la t\u00eate<\/strong>&nbsp;ou a&nbsp;<strong>un mauvais contr\u00f4le de la t\u00eate<\/strong>, la man\u0153uvre du \u00ab tir\u00e9 assis \u00bb peut \u00eatre utilis\u00e9e pour confirmer le non maintien de la t\u00eate<sup>2,6<\/sup><\/li>\n\n\n\n<li>Un nourrisson qui ne se d\u00e9veloppe pas normalement aura probablement&nbsp;<strong>la t\u00eate d\u00e9cal\u00e9e en arri\u00e8re, derri\u00e8re le plan du tronc<\/strong>, avec&nbsp;<strong>le cou en extension compl\u00e8te<\/strong><sup>2,8,9<\/sup><\/li>\n\n\n\n<li><strong>Ils ne peuvent pas relever la t\u00eate au-dessus de la ligne de leur dos<\/strong>&nbsp;lorsqu&rsquo;ils sont tenus horizontalement face vers le bas<sup>7,8<\/sup><\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-video\"><video height=\"1080\" style=\"aspect-ratio: 1920 \/ 1080;\" width=\"1920\" controls src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/3-Un-mauvais-port-de-tete-chez-lenfant-de-0-a-6-mois-est-un-symptome-de-latrophie-musculaire-spinale-SMA-de-type-1.mp4\"><\/video><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Difficult\u00e9s respiratoires (5)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-video\"><video height=\"1080\" style=\"aspect-ratio: 1920 \/ 1080;\" width=\"1920\" controls src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/4-La-difficulte-a-respirer-chez-lenfant-de-0-a-6-mois-est-lun-des-symptomes-de-latrophie-musculaire-spinale-SMA-de-type-1.mp4\"><\/video><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li><strong>La faiblesse des muscles intercostaux<\/strong>&nbsp;avec \u00e9pargne du diaphragme peut donner au nourrisson&nbsp;<strong>un thorax en forme de cloche<\/strong>&nbsp;et&nbsp;<strong>une respiration paradoxale<\/strong>, parfois appel\u00e9e&nbsp;<strong>\u00ab&nbsp;respiration abdominale&nbsp;\u00bb<\/strong> (2)<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Difficult\u00e9s de d\u00e9glutition (2, 6)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li><strong>Des difficult\u00e9s \u00e0 t\u00e9ter, \u00e0 s&rsquo;alimenter<\/strong>&nbsp;ou&nbsp;<strong>\u00e0 g\u00e9rer les s\u00e9cr\u00e9tions orales<\/strong>&nbsp;(salive) peuvent sugg\u00e9rer&nbsp;<strong>une faiblesse de la langue<\/strong>&nbsp;et de&nbsp;<strong>la d\u00e9glutition<\/strong>, typique de la SMA (2, 6, 9)<\/li>\n\n\n\n<li>Dans les cas plus avanc\u00e9s, des \u00e9pisodes r\u00e9currents d&rsquo;aspiration avec malaise ou une croissance lente ou r\u00e9duite peuvent \u00eatre observ\u00e9s (2, 9)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"158\" height=\"158\" src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Deglut.png\" alt=\"\" class=\"wp-image-5827\" srcset=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Deglut.png 158w, https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/Deglut-150x150.png 150w\" sizes=\"(max-width: 158px) 100vw, 158px\" \/><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Fasciculations de la langue (2, 6)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-video\"><video height=\"1080\" style=\"aspect-ratio: 1920 \/ 1080;\" width=\"1920\" controls src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/6-Une-fasciculation-de-la-langue-chez-lenfant-de-0-a-6-mois-est-lun-des-symptomes-de-latrophie-musculaire-spinale-SMA-de-type-1.mp4\"><\/video><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li>Un b\u00e9b\u00e9 atteint de SMA pr\u00e9sentera souvent une&nbsp;<strong>atrophie<\/strong>&nbsp;et des&nbsp;<strong>fasciculations<\/strong>&nbsp;ou&nbsp;<strong>des contractions de la langue<\/strong> (2, 6)<\/li>\n\n\n\n<li>Un b\u00e9b\u00e9 atteint de SMA pr\u00e9sentera souvent une&nbsp;<strong>atrophie<\/strong>&nbsp;et des&nbsp;<strong>fasciculations<\/strong>&nbsp;ou&nbsp;<strong>des contractions de la langue<\/strong> (2, 6)<\/li>\n<\/ul>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Cri faible et Difficult\u00e9 \u00e0 tousser (6)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li>Un b\u00e9b\u00e9 atteint de SMA peut avoir&nbsp;<strong>un cri faible<\/strong> 6)<\/li>\n\n\n\n<li><strong>La faiblesse des muscles respiratoires<\/strong>&nbsp;peut \u00e9galement causer de&nbsp;<strong>graves difficult\u00e9s \u00e0 tousser<\/strong> (6)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-video\"><video height=\"1080\" style=\"aspect-ratio: 1920 \/ 1080;\" width=\"1920\" controls src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/7-Une-toux-et-des-pleurs-peu-bruyants-chez-lenfant-de-0-a-6-mois-sont-des-symptomes-de-latrophie-musculaire-spinale-SMA-de-type-1.mp4\"><\/video><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading has-white-color has-text-color has-background\" style=\"background-color:#237585\">La SMA Type 2 (6-18 mois) : signes d&rsquo;alerte<\/h3>\n\n\n\n<p class=\"has-text-align-center has-background has-medium-font-size\" style=\"background-color:#fadecc\"><em><strong>Les enfants pr\u00e9sentant ces signes restent alertes avec un d\u00e9veloppement normal de la parole (17)<\/strong><\/em><\/p>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Hypotonie (2)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li><strong>Une diminution du tonus musculaire et de la force \u00e0 l&rsquo;examen clinique<\/strong>, avec des ant\u00e9c\u00e9dents de faible tonus musculaire au cours des premiers mois de la vie,&nbsp;<strong>est un signe cl\u00e9 de SMA<\/strong> (4)<\/li>\n\n\n\n<li>Pr\u00e9sence d\u2019<strong>une faiblesse des membres inf\u00e9rieurs et sup\u00e9rieurs<\/strong> (2)<\/li>\n\n\n\n<li>L\u2019enfant peut avoir&nbsp;<strong>des difficult\u00e9s \u00e0 atteindre et \u00e0 ramasser des objets<\/strong> (16)<\/li>\n\n\n\n<li>L\u2019enfant est&nbsp;<strong>incapable de se tenir debout<\/strong>&nbsp;en raison d&rsquo;<strong>une faiblesse des jambes<\/strong>&nbsp;et il est&nbsp;<strong>peu probable qu&rsquo;il marche seul<\/strong> (2, 6)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-video\"><video height=\"1080\" style=\"aspect-ratio: 1920 \/ 1080;\" width=\"1920\" controls src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/10-Lhypotonie-chez-lenfant-de-6-a-18-mois-est-un-symptome-datrophie-musculaire-spinale-SMA-de-type-2-et-SMA-de-type-3.mp4\"><\/video><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Retard \/ Perte de la fonction motrice (4, 6)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li>Bien que l&rsquo;enfant puisse avoir atteint des \u00e9tapes pr\u00e9coces de d\u00e9veloppement moteur (comme la station assise ou la station debout sans soutien), il est probable que ces \u00e9tapes aient \u00e9t\u00e9 atteintes de fa\u00e7on retard\u00e9e (2, 4, 6)<\/li>\n\n\n\n<li>Finalement,&nbsp;<strong>un d\u00e9clin progressif de la fonction motrice<\/strong>&nbsp;est observ\u00e9 et certaines \u00e9tapes seront perdues (4)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"158\" height=\"158\" src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/15-icon_9_sma_0.png\" alt=\"\" class=\"wp-image-5835\" srcset=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/15-icon_9_sma_0.png 158w, https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/15-icon_9_sma_0-150x150.png 150w\" sizes=\"(max-width: 158px) 100vw, 158px\" \/><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Ar\u00e9flexie (2, 4)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li><strong>Les r\u00e9flexes ost\u00e9o-tendineux absents ou r\u00e9duits sont caract\u00e9ristiques de la SMA<\/strong>&nbsp;et constituent une partie essentielle de l&rsquo;examen clinique de l\u2019enfant en cas d&rsquo;hypotonie (7)<\/li>\n\n\n\n<li>L&rsquo;\u00e9valuation des r\u00e9flexes ost\u00e9o-tendineux peut \u00eatre r\u00e9alis\u00e9e par une observation attentive de la r\u00e9action de l\u2019enfant \u00e0 la percussion des tendons avec un marteau sp\u00e9cialis\u00e9 (8)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-video\"><video height=\"1080\" style=\"aspect-ratio: 1920 \/ 1080;\" width=\"1920\" controls src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/11-Lareflexie-chez-lenfant-de-6-a-18-mois-est-un-symptome-datrophie-musculaire-spinale-SMA-de-type-2-et-SMA-de-type-3.mp4\"><\/video><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Tremblements fins (6)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li><strong>Tremblements fins<\/strong>&nbsp;lorsque&nbsp;<strong>les doigts sont tendus<\/strong>&nbsp;ou que&nbsp;<strong>l\u2019enfant essaie d\u2019agripper quelque chose<\/strong>&nbsp;avec sa main (6, 17)<\/li>\n\n\n\n<li><strong>Des contractions musculaires de leurs \u00e9paules<\/strong>&nbsp;peuvent \u00e9galement \u00eatre observ\u00e9es (17)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"158\" height=\"158\" src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/12-icon_13_sma.png\" alt=\"\" class=\"wp-image-5836\" srcset=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/12-icon_13_sma.png 158w, https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/12-icon_13_sma-150x150.png 150w\" sizes=\"(max-width: 158px) 100vw, 158px\" \/><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Scoliose progressive &amp; r\u00e9tractions musculo-tendineuses (2, 4, 6, 18)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li><strong>Un mouvement limit\u00e9 dans les membres inf\u00e9rieurs, plus s\u00e9v\u00e8re que dans les membres sup\u00e9rieurs<\/strong>&nbsp;est un signe de SMA (19)<\/li>\n\n\n\n<li>L\u2019enfant peut pr\u00e9senter&nbsp;<strong>une scoliose<\/strong>&nbsp;et&nbsp;<strong>des r\u00e9tractions musculo-tendineuses<\/strong>, en particulier&nbsp;<strong>du genou et de la cheville<\/strong>, qui continuent de progresser au cours du temps (2, 4, 6, 18, 19)<\/li>\n\n\n\n<li><strong>Une obliquit\u00e9 pelvienne<\/strong>&nbsp;peut \u00e9galement \u00eatre pr\u00e9sente (18)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"158\" height=\"158\" src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/13-icon_14_sma.png\" alt=\"\" class=\"wp-image-5837\" srcset=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/13-icon_14_sma.png 158w, https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/13-icon_14_sma-150x150.png 150w\" sizes=\"(max-width: 158px) 100vw, 158px\" \/><\/figure>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading has-ast-global-color-0-background-color has-background\" style=\"padding-top:0px;padding-right:49px;padding-bottom:0px;padding-left:49px\">Sympt\u00f4mes Respiratoires (4)<\/h4>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<ul class=\"wp-block-list\">\n<li><strong>Une maladie pulmonaire restrictive<\/strong>&nbsp;peut r\u00e9sulter de la&nbsp;<strong>faiblesse progressive des muscles intercostaux<\/strong>&nbsp;typique de la SMA, en particulier si l\u2019enfant pr\u00e9sente \u00e9galement une scoliose (2, 4)<\/li>\n\n\n\n<li><strong>Les signes de maladie pulmonaire restrictive<\/strong>&nbsp;comprennent&nbsp;<strong>une capacit\u00e9 pulmonaire totale<\/strong>&nbsp;et&nbsp;<strong>une capacit\u00e9 vitale forc\u00e9e r\u00e9duites<\/strong>, avec un volume expiratoire pr\u00e9serv\u00e9 (20)<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"156\" height=\"156\" src=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/14-checklist_icon_2.png\" alt=\"\" class=\"wp-image-5838\" srcset=\"https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/14-checklist_icon_2.png 156w, https:\/\/afkp.fr\/wp-content\/uploads\/2023\/10\/14-checklist_icon_2-150x150.png 150w\" sizes=\"(max-width: 156px) 100vw, 156px\" \/><\/figure>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-28f84493 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:100%\">\n<div class=\"wp-block-uagb-buttons uagb-buttons__outer-wrap uagb-btn__default-btn uagb-btn-tablet__default-btn uagb-btn-mobile__default-btn uagb-block-5bdc4805\"><div class=\"uagb-buttons__wrap uagb-buttons-layout-wrap\">\n<div class=\"wp-block-uagb-buttons-child uagb-buttons__outer-wrap uagb-block-eeab03a7 wp-block-button\"><div class=\"uagb-button__wrapper\"><a class=\"uagb-buttons-repeater wp-block-button__link\" href=\"https:\/\/www.signesdelasma.fr\/\" onclick=\"return true;\" rel=\"follow noopener\" target=\"_blank\"><div class=\"uagb-button__link\">En savoir plus &#8211; signes de la Sma<\/div><span class=\"uagb-button__icon uagb-button__icon-position-after\"><svg xmlns=\"https:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 640 512\"><path d=\"M172.5 131.1C228.1 75.51 320.5 75.51 376.1 131.1C426.1 181.1 433.5 260.8 392.4 318.3L391.3 319.9C381 334.2 361 337.6 346.7 327.3C332.3 317 328.9 297 339.2 282.7L340.3 281.1C363.2 249 359.6 205.1 331.7 177.2C300.3 145.8 249.2 145.8 217.7 177.2L105.5 289.5C73.99 320.1 73.99 372 105.5 403.5C133.3 431.4 177.3 435 209.3 412.1L210.9 410.1C225.3 400.7 245.3 404 255.5 418.4C265.8 432.8 262.5 452.8 248.1 463.1L246.5 464.2C188.1 505.3 110.2 498.7 60.21 448.8C3.741 392.3 3.741 300.7 60.21 244.3L172.5 131.1zM467.5 380C411 436.5 319.5 436.5 263 380C213 330 206.5 251.2 247.6 193.7L248.7 192.1C258.1 177.8 278.1 174.4 293.3 184.7C307.7 194.1 311.1 214.1 300.8 229.3L299.7 230.9C276.8 262.1 280.4 306.9 308.3 334.8C339.7 366.2 390.8 366.2 422.3 334.8L534.5 222.5C566 191 566 139.1 534.5 108.5C506.7 80.63 462.7 76.99 430.7 99.9L429.1 101C414.7 111.3 394.7 107.1 384.5 93.58C374.2 79.2 377.5 59.21 391.9 48.94L393.5 47.82C451 6.731 529.8 13.25 579.8 63.24C636.3 119.7 636.3 211.3 579.8 267.7L467.5 380z\"><\/path><\/svg><\/span><\/a><\/div><\/div>\n\n\n\n<div class=\"wp-block-uagb-buttons-child uagb-buttons__outer-wrap uagb-block-be57654f wp-block-button\"><div class=\"uagb-button__wrapper\"><a class=\"uagb-buttons-repeater wp-block-button__link\" href=\"https:\/\/www.filnemus.fr\/carte-interactive\/ou-consulter\" onclick=\"return true;\" rel=\"follow noopener\" target=\"_blank\"><div class=\"uagb-button__link\">Centres de r\u00e9f\u00e9rence &#8211; consultation<\/div><span class=\"uagb-button__icon uagb-button__icon-position-after\"><svg xmlns=\"https:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 640 512\"><path d=\"M172.5 131.1C228.1 75.51 320.5 75.51 376.1 131.1C426.1 181.1 433.5 260.8 392.4 318.3L391.3 319.9C381 334.2 361 337.6 346.7 327.3C332.3 317 328.9 297 339.2 282.7L340.3 281.1C363.2 249 359.6 205.1 331.7 177.2C300.3 145.8 249.2 145.8 217.7 177.2L105.5 289.5C73.99 320.1 73.99 372 105.5 403.5C133.3 431.4 177.3 435 209.3 412.1L210.9 410.1C225.3 400.7 245.3 404 255.5 418.4C265.8 432.8 262.5 452.8 248.1 463.1L246.5 464.2C188.1 505.3 110.2 498.7 60.21 448.8C3.741 392.3 3.741 300.7 60.21 244.3L172.5 131.1zM467.5 380C411 436.5 319.5 436.5 263 380C213 330 206.5 251.2 247.6 193.7L248.7 192.1C258.1 177.8 278.1 174.4 293.3 184.7C307.7 194.1 311.1 214.1 300.8 229.3L299.7 230.9C276.8 262.1 280.4 306.9 308.3 334.8C339.7 366.2 390.8 366.2 422.3 334.8L534.5 222.5C566 191 566 139.1 534.5 108.5C506.7 80.63 462.7 76.99 430.7 99.9L429.1 101C414.7 111.3 394.7 107.1 384.5 93.58C374.2 79.2 377.5 59.21 391.9 48.94L393.5 47.82C451 6.731 529.8 13.25 579.8 63.24C636.3 119.7 636.3 211.3 579.8 267.7L467.5 380z\"><\/path><\/svg><\/span><\/a><\/div><\/div>\n<\/div><\/div>\n<\/div>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading has-white-color has-text-color has-background\" style=\"background-color:#237585\">Bibliographie <\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Chen TH. New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand? Int. J. Mol. Sci. 2020;21:3297.<\/li>\n\n\n\n<li>Kolb J S et Kissel T J. Spinal Muscular Atrophy.&nbsp;<em>Neurol Clin.<\/em>&nbsp;2015;33:831\u2013846.<\/li>\n\n\n\n<li>Govoni A,&nbsp;<em>et al.<\/em>&nbsp;Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy. Mol Neurobiol 2018;55:6307\u20136318.<\/li>\n\n\n\n<li>Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA,&nbsp;<em>et al.<\/em>, editors.&nbsp;<em>GeneReviews\u00ae<\/em>&nbsp;[Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132020.<\/li>\n\n\n\n<li>Pera MC,&nbsp;<em>et al.<\/em>&nbsp;Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?&nbsp;<em>PLoS One.<\/em>&nbsp;2020;15(3):e0230677.<\/li>\n\n\n\n<li>Wang CH,&nbsp;<em>et al.<\/em>&nbsp;Consensus Statement for Standard of Care in Spinal Muscular Atrophy. J Child Neurol. 2007;22(8):1027\u201349.<\/li>\n\n\n\n<li>Leyenaar J,&nbsp;<em>et al.<\/em>&nbsp;A schematic approach to hypotonia in infancy. Paediatr Child Health. 2005;10(7):397\u2013400.<\/li>\n\n\n\n<li>Zimmerman B and Hubbard JB. Deep Tendon Reflexes (Stretch Reflexes) [Updated 2020 Jul 31]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan.<\/li>\n\n\n\n<li>Markowitz JA,&nbsp;<em>et al.<\/em>&nbsp;Spinal Muscular Atrophy in the Neonate.&nbsp;<em>JOGNN.<\/em>&nbsp;2004;33:12\u201320.<\/li>\n\n\n\n<li>Mercuri E&nbsp;<em>et al.<\/em>&nbsp;Diagnosis and management of spinal muscular atrophy: Part 1:Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders 2018;28:103\u2013115.<\/li>\n\n\n\n<li>Lin CW,&nbsp;<em>et al.<\/em>&nbsp;Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediat Neurol. 2015;53(4):293\u2013300.<\/li>\n\n\n\n<li>European Alliance for Newborn Screening in Spinal Muscular Atrophy (2020). Opening a new horizon for children born with SMA. Disponible \u00e0 l&rsquo;adresse: https:\/\/www.smaeurope.eu\/wp-content\/uploads\/2020\/09\/SMA-NBS-Alliance-pages-1.pdf. Site consult\u00e9 en mai 2021.<\/li>\n\n\n\n<li>Lee HN and Lee Y-M. J Integrated diagnostic approach of pediatric neuromuscular disorders. Genet Med. 2018;15(2):55\u201363.<\/li>\n\n\n\n<li>McDonald CM. Clinical Approach to the Diagnostic Evaluation of Herditary and Acquired Neuromuscular Diseases. Phys Med Rehabil Clin N Am. 2012;23(3):495\u2013563.<\/li>\n\n\n\n<li>Lisi EC and Cohn RD. Genetic evaluation of the pediatric enfant with hypotonia: perspective from a hypotonia specialty clinic and review of the literature. Dev Med Child Neurol. 2011;53(7):586\u201399.<\/li>\n\n\n\n<li>Spinal Muscular Atrophy UK (2019). Toys and play for babies and children who have spinal muscular atrophy \u2013 A professional\u2019s guide.&nbsp; Disponible \u00e0 l&rsquo;adresse: https:\/\/smauk.org.uk\/toys-and-play-a-guide-for-professionals. Site consult\u00e9 : Juillet 2021.<\/li>\n\n\n\n<li>SMA Europe (Type 2). Disponible \u00e0 l&rsquo;adresse: https:\/\/www.smaeurope.eu\/essentials\/spinal-muscular-atrophy-sma\/type-2\/. Site consult\u00e9 : Juillet 2021.<\/li>\n\n\n\n<li>Fujak A,&nbsp;<em>et al.<\/em>&nbsp;Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 enfants. BMC Musculoskelet Disord. 2013 Oct 4;14:2.<\/li>\n\n\n\n<li>Wang HY,&nbsp;<em>et al.<\/em>&nbsp;Joint Range of Motion Limitations in Children and Young Adults With Spinal Muscular Atrophy. Arch Phys Med Rehabil. 2004;85(10):1689\u201393.<\/li>\n\n\n\n<li>Martinez-Pitre PJ, Sabbula BR, Cascella M. Restrictive Lung Disease. [Updated 2020 Jul 15]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan.<\/li>\n\n\n\n<li>Shababi M,&nbsp;<em>et al.<\/em>&nbsp;Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? J Anat. 2014;224(1):15\u201328.<\/li>\n\n\n\n<li>Finkel RS, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014; 83(9):810-17<\/li>\n\n\n\n<li>Schorling DC, et al. Advances in Treatment of Spinal Muscular Atrophy &#8211; New Phenotypes, New Challenges, New Implications for Care. Journal of Neuromuscular Diseases 2020,7:1-13<\/li>\n<\/ol>\n\n\n\n<p><\/p>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Les kin\u00e9sith\u00e9rapeutes p\u00e9diatriques rencontrent de nombreux nourrissons, parfois dans un parcours de soin d\u00e9licat, dans un contexte de manque de P\u00e9diatres dans certains territoires.<\/p>\n<p>Dans ce cadre, une hypotonie du jeune enfant peut passer inaper\u00e7u ou \u00eatre mal \u00e9valu\u00e9e.<\/p>\n<p>Et pourtant, si c&rsquo;\u00e9tait urgent d&rsquo;orienter ?<\/p>\n<p>D\u00e8s les premiers mois de vie, soyons vigilants pour rep\u00e9rer les signes d&rsquo;alerte d&rsquo;une amyotrophie spinale (SMA) !<\/p>\n<p>Pour les b\u00e9b\u00e9s atteints de SMA, un diagnostic pr\u00e9coce est vital. En effet, toute l\u00e9sion des motoneurones inf\u00e9rieurs survenant avant le traitement est irr\u00e9versible.<\/p>\n","protected":false},"author":109,"featured_media":5842,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","_uag_custom_page_level_css":"","site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[1],"tags":[],"class_list":["post-5809","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-non-classe"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>L&#039;Amyotrophie Spinale Infantile (ASI ou SMA) - AFKP<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/afkp.fr\/index.php\/2023\/10\/27\/lamyotrophie-spinale-infantile-asi-ou-sma\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"L&#039;Amyotrophie Spinale Infantile (ASI ou SMA) - AFKP\" \/>\n<meta property=\"og:description\" content=\"Les kin\u00e9sith\u00e9rapeutes p\u00e9diatriques rencontrent de nombreux nourrissons, parfois dans un parcours de soin d\u00e9licat, dans un contexte de manque de P\u00e9diatres dans certains territoires. 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