{"id":27,"date":"2019-04-05T18:26:36","date_gmt":"2019-04-05T18:26:36","guid":{"rendered":"https:\/\/lougehrig.org\/info\/2019\/04\/05\/%ec%b2%99%ec%88%98%ec%84%b1%ea%b7%bc%ec%9c%84%ec%b6%95%ec%a6%9dspinal-muscular-atrophy-sma-%ec%9c%a0%ec%a0%84%ec%9e%90-%ec%b9%98%eb%a3%8c%ea%b0%80-%ed%98%84%ec%8b%a4%eb%a1%9c\/"},"modified":"2019-04-05T18:26:36","modified_gmt":"2019-04-05T18:26:36","slug":"%ec%b2%99%ec%88%98%ec%84%b1%ea%b7%bc%ec%9c%84%ec%b6%95%ec%a6%9dspinal-muscular-atrophy-sma-%ec%9c%a0%ec%a0%84%ec%9e%90-%ec%b9%98%eb%a3%8c%ea%b0%80-%ed%98%84%ec%8b%a4%eb%a1%9c","status":"publish","type":"post","link":"https:\/\/lougehrig.org\/info\/2019\/04\/05\/%ec%b2%99%ec%88%98%ec%84%b1%ea%b7%bc%ec%9c%84%ec%b6%95%ec%a6%9dspinal-muscular-atrophy-sma-%ec%9c%a0%ec%a0%84%ec%9e%90-%ec%b9%98%eb%a3%8c%ea%b0%80-%ed%98%84%ec%8b%a4%eb%a1%9c\/","title":{"rendered":"\ucc99\uc218\uc131\uadfc\uc704\ucd95\uc99d(Spinal muscular atrophy, SMA), \uc720\uc804\uc790 \uce58\ub8cc\uac00 \ud604\uc2e4\ub85c"},"content":{"rendered":"\n<amp-fit-text layout=\"fixed-height\" min-font-size=\"14\" max-font-size=\"48\" height=\"50\"><p>\ucd5c\uadfc \uae09\uc5ec\ub97c \ubc1b\uc740 \ucc99\uc218\uc131\uadfc\uc704\ucd95\uc99d(Spinal muscular atrophy, SMA)\uc758 \uce58\ub8cc\uc81c\uc640 \uadf8 \uad00\ub828\ub41c \uc774\uc57c\uae30\ub97c \ud574\ubcfc\uae4c \ud569\ub2c8\ub2e4. <\/p><\/amp-fit-text>\n\n\n<p>\ubbf8\ub9ac \ub9d0\uc500 \ub4dc\ub9ac\uc9c0\ub9cc \ubcd1\uc758 \uc774\ud574\ub97c \ub3d5\uae30 \uc704\ud574 \uc4f0\uc774\ub294 \ub2e8\uc5b4\uac00 \uc870\uae08 \uc5b4\ub824\uc6b8 \uc218 \uc788\uc2b5\ub2c8\ub2e4. \ucd5c\ub300\ud55c \uc27d\uac8c \ud480\uc5b4\uc11c \uc124\uba85 \ub4dc\ub9ac\uaca0\uc2b5\ub2c8\ub2e4. <\/p>\n\n\n<p>\ucc99\uc218\uc131\uadfc\uc704\ucd95\uc99d\uc740 \uc0c1\uc5fc\uc0c9\uccb4 \uc5f4\uc131\uc720\uc804\uc744 \ud558\ub294 \uc720\uc804\uc801\uc778 \uc9c8\ud658\uc73c\ub85c, \uc99d\uc0c1\uc740 \ubc1c\uc0dd\ud558\ub294 \uc2dc\uae30\uc5d0 \ub530\ub77c \ub2e4\uc18c \ub2e4\ub974\uc9c0\ub9cc, \ub300\uccb4\ub85c \uc0ac\uc9c0\uadfc\ub825\uc758 \uc800\ud558\uac00 \uc788\uc73c\uba74\uc11c \uc601\uc544 \ud639\uc740 \uc2e0\uc0dd\uc544\uc758 \uacbd\uc6b0\uc5d0\ub294 \ud638\ud761\uace4\ub780\uc774 \ud568\uaed8 \ub098\ud0c0\ub0a9\ub2c8\ub2e4. \uc99d\uc0c1 \uc815\ub3c4\uc640 \ubc1c\uc0dd\uc2dc\uc810\uc5d0 \ub530\ub77c \uc544\ub798 \ud45c\uc640 \uac19\uc774 \ubd84\ub958\ud558\uac8c \ub429\ub2c8\ub2e4. <\/p>\n\n\n<table class=\"wp-block-table\"><tbody><tr><td>SMA\ud0c0\uc785<\/td><td>\ubc1c\uc0dd\ub098\uc774<\/td><td>\ucd5c\uace0 \uae30\ub2a5<\/td><td>\uc0ac\ub9dd\uc2dc\uc810<\/td><\/tr><tr><td>0<\/td><td>\uc8fc\uc0b0\uae30<\/td><td>\uc778\uacf5\ud638\ud761\uae30 \ud544\uc694<\/td><td>1\uac1c\uc6d4 \ubbf8\ub9cc<\/td><\/tr><tr><td>1<\/td><td>0-6\uac1c\uc6d4<\/td><td>\ud63c\uc790\uc11c \uc549\uc744 \uc218 \uc5c6\uc74c<\/td><td>2\uc138 \ubbf8\ub9cc<\/td><\/tr><tr><td>2<\/td><td>18\uac1c\uc6d4 \ubbf8\ub9cc<\/td><td>\ud63c\uc790\uc11c \uc11c \uc788\uc744 \uc218 \uc5c6\uc74c<\/td><td>2\uc138 \uc774\uc0c1<\/td><\/tr><tr><td>3<\/td><td>18\uac1c\uc6d4 \uc774\uc0c1<\/td><td>\ud63c\uc790\uc11c \uc11c \uc788\uc744 \uc218 \uc788\uc74c<\/td><td>\uc131\uc778<\/td><\/tr><tr><td>3a<\/td><td>18\uac1c\uc6d4-3\uc138<\/td><td>\ud63c\uc790\uc11c \uc11c \uc788\uc744 \uc218 \uc788\uc74c<\/td><td>\uc131\uc778<br \/><\/td><\/tr><tr><td>3b<\/td><td>3\uc138 \uc774\uc0c1<\/td><td>\ud63c\uc790\uc11c \uc11c \uc788\uc744 \uc218 \uc788\uc74c<\/td><td>\uc131\uc778<\/td><\/tr><tr><td>4<\/td><td>21\uc138 \uc774\uc0c1<\/td><td>\ud63c\uc790\uc11c \uc11c \uc788\uc744 \uc218 \uc788\uc74c<\/td><td>\uc131\uc778<\/td><\/tr><\/tbody><\/table>\n\n\n<p>\ubcd1\uc778\uc73c\ub85c\ub294 \uc6b0\ub9ac\ubab8\uc5d0\uc11c \uc6b4\ub3d9\uc2e0\uacbd\uc758 \uae30\ub2a5\uc744 \uc720\uc9c0\ud558\ub294 \ub2e8\ubc31\uc9c8 \uc911\uc5d0\uc11c \ud558\ub098\uc778 survival of motor neurons(SMN)\uc774\ub77c\ub294 \uac83\uc774 \uc788\ub294\ub370, \uc774 \ub2e8\ubc31\uc9c8\uc744 \ud45c\ud604\ud558\ub294 \uc720\uc804\uc790\uc758 \uc774\uc0c1(SMN1 \ub3d9\ud615\uc811\ud569 \uc720\uc804\uc790\uacb0\uc190(homozygous deletion);95%, \uc774\ud615\uc811\ud569 \uc720\uc804\uc790\uacb0\uc190(heterozygous deletion);5%, \uc810\ub3cc\uc5f0\ubcc0\uc774(point mutation);1%)\uc73c\ub85c \uc6b0\ub9ac\ubab8\uc5d0 \ud544\uc694\ud55c \uc591\uc744 \ub9cc\ub4e4\uc9c0 \ubabb\ud558\uc5ec \uc99d\uc0c1\uc774 \ubc1c\uc0dd\ud558\ub294 \uac83\uc73c\ub85c \uc54c\ub824\uc838 \uc788\uc2b5\ub2c8\ub2e4. \uc7ac\ubbf8 \uc788\uac8c\ub3c4, \uc6b0\ub9ac\ubab8\uc5d0\ub294 \ud2b9\ud788 \uc0ac\ub78c\uc758 \uacbd\uc6b0\uc5d0\ub294 SMN1\uc720\uc804\uc790\uc640 \uac70\uc758 \uac19\uc740 SMN2 \uc720\uc804\uc790\uac00 \uc788\uc73c\uba70, \ud658\uc790\uc5d0\uac8c\ub3c4 \uc774 \uc720\uc804\uc790\uc758 \ubc18\ubcf5 \uc218\ub294 \ub2e4\uc18c \ub0a8\uc544 \uc788\ub294 \uc0c1\ud0dc\uc785\ub2c8\ub2e4. <\/p>\n\n\n<p>\ub2e4\ub9cc SMN1\uc720\uc804\uc790\uc640 SMN2\uc720\uc804\uc790 \uc0ac\uc774\uc5d0\ub294 \uad6c\uc870\uc801\uc73c\ub85c \uc0ac\uc18c\ud55c \ucc28\uc774\uac00 \uc788\uc2b5\ub2c8\ub2e4. SMN2 \uc720\uc804\uc790\uc5d0\uc11c\ub294 \uc5fc\uae30\uc11c\uc5f4\uc774 SMN1 \uc720\uc804\uc790\uc640 \ube44\uad50\ud558\uc5ec \ud55c\uac1c\uac00 \ubc14\ub00c\uc5b4 \uc788\ub294\ub370, \uadf8 \uacb0\uacfc SMN2 \uc720\uc804\uc790\uc5d0 \uc758\ud574\uc11c \uc57d 85~90%\uac00 7\ubc88 \uc5d1\uc190\uc758 \ub0b4\uc6a9\uc774 \ube44\uc5b4\uc788\ub294, \uc989 \uc81c \uae30\ub2a5\uc744 \ubabb\ud558\ub294 \ub2e8\ubc31\uc9c8\uc774 \ub9cc\ub4e4\uc5b4 \uc9d1\ub2c8\ub2e4.<\/p>\n\n\n<figure class=\"wp-block-image\" data-amp-lightbox=\"true\"><img decoding=\"async\" src=\"http:\/\/lougehrig.org\/wp-content\/uploads\/2019\/04\/SMN2_cartoon-1024x393.jpg\" alt=\"\" class=\"wp-image-101\"\/><figcaption>SMN2\uc5d0\uc11c\ub294 840\uc704\uce58\uc758 \uc5fc\uae30\uc11c\uc5f4\uc774 C\uc5d0\uc11c T\ub85c \ubc14\ub00c\uc5b4 \uc9e7\uc740 SMN \ub2e8\ubc31\uc774 \ub9cc\ub4e4\uc5b4\uc838\uc11c \uae30\ub2a5\uc744 \ubabb\ud569\ub2c8\ub2e4.<br \/><\/figcaption><\/figure>\n\n\n<p>\ucd5c\uadfc \uce58\ub8cc\ubc95\uc758 \ubc1c\ub2ec\uc5d0 \ub530\ub77c \uc720\uc804\uc790 \uce58\ub8cc \uae30\ubc95\uc774 \uc18c\uac1c\ub418\uc5c8\uc73c\uba70, 2019\ub144 3\uc6d4 \uc6b0\ub9ac\ub098\ub77c\uc5d0\uc11c\ub3c4 \uae09\uc5ec\ub97c \ubc1b\uac8c \ub418\uc5b4, \ud604\uc2e4\uc801\uc73c\ub85c \uce58\ub8cc\ub97c \ubc1b\uc744 \uc218 \uc788\ub294 \uc2a4\ud540\ub77c\uc790(Spinraza, Nusinersen)\uc5d0 \ub300\ud574 \uac04\ub2e8\ud788 \uc54c\ub824\ub4dc\ub9bd\ub2c8\ub2e4. <\/p>\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"http:\/\/lougehrig.org\/wp-content\/uploads\/2019\/04\/MOA-1024x459.png\" alt=\"\" class=\"wp-image-104\"\/><\/figure>\n\n\n<p>\uc704\uc5d0\uc11c \uc5b8\uae09\ud588\ub4ef\uc774 SMN2 \uc720\uc804\uc790\uc5d0 \uc758\ud574 \uc0dd\uc131\ub418\ub294 \ub2e8\ubc31\uc9c8\uc740 7\ubc88 \uc5d1\uc190\uc758 \ub0b4\uc6a9\uc774 \uc5c6\ub294\ub370, \uc2a4\ud540\ub77c\uc790\ub294 7\ubc88\uc5d1\uc190 \ub4a4\uc5d0 \uc791\uc6a9\ud558\uc5ec \uc804\uccb4 \uae38\uc774\uc758 mRNA\uac00 \uc0dd\uc131\ub418\ub3c4\ub85d \ud558\uba70, \ucd5c\uc885\uc801\uc73c\ub85c SMN1 \uc720\uc804\uc790\uc5d0 \uc0dd\uc131\ub418\ub294 \ub2e8\ubc31\uc9c8\uacfc \uac19\uc740 \uc804\uccb4\uae38\uc774\ub97c \ubaa8\ub450 \uac16\ub294 \ub2e8\ubc31\uc9c8\uc744 \ub9cc\ub4e4\uac8c \ud558\uc5ec \uc99d\uc0c1\uc744 \uac1c\uc120\ud569\ub2c8\ub2e4.<\/p>\n\n\n<p>\uc2a4\ud540\ub77c\uc790\ub294 \ub2e4\uc74c \uae09\uc5ec \uc870\uac74\uc744 \ubaa8\ub450 \ub9cc\uc871\ud558\uc5ec\uc57c \ud558\uba70, \uc720\uc9c0 \uc6a9\ubc95 \uc2dc\uc5d0\ub294 \uc6b4\ub3d9 \uae30\ub2a5\uc758 \uc720\uc9c0 \ubc0f \uac1c\uc120\uc774 \ub418\uc5b4\uc57c \uacc4\uc18d \uc4f8 \uc218 \uc788\uc2b5\ub2c8\ub2e4. \uadf8\ub9ac\uace0, \uc5b8\uc81c \uce58\ub8cc\ub97c \uc911\ub2e8\ud558\uc5ec\uc57c \ud55c\ub2e4\ub294 \uac83\uc740 \uc544\uc9c1 \uae30\uc900\uc774 \uc5c6\uc2b5\ub2c8\ub2e4. <\/p>\n\n\n<ol class=\"wp-block-list\"><li>SMN1\uc720\uc804\uc790\uc758 \uacb0\uc190 \ub610\ub294 \ubcc0\uc774 \ud655\uc778<\/li><li>\ub9cc3\uc138 \uc774\ud558 \ub54c\uc5d0 \ucc99\uc218\uc131\uadfc\uc704\ucd95\uc99d\uc758 \uc784\uc0c1 \uc99d\uc0c1\uacfc \uc9d5\ud6c4 \ubc1c\ud604<\/li><li>\uc601\uad6c\uc801 \uc778\uacf5\ud638\ud761\uae30\ub97c \uc0ac\uc6a9\ud558\uace0 \uc788\uc9c0 \uc54a\uc740 \uacbd\uc6b0<\/li><\/ol>\n\n\n<p>\uc8fc\uc0ac\uc81c\ub294 \uc77c\ubc18\uc801\uc73c\ub85c \uc0dd\uac01\ud558\ub294 \uc815\uc8fc \ud639\uc740 \uba39\ub294 \uc57d\uc774 \uc544\ub2c8\uace0 \uacbd\ub9c9\ub0b4 \ud22c\uc5ec\ud558\uc5ec\uc57c \ud569\ub2c8\ub2e4. \uc989, \ucc99\uc218\uc561 \uac80\uc0ac\uc640 \uac19\uc774 \ud5c8\ub9ac\uc5d0 \ucc9c\uc790\ub97c \ud558\uace0 \ucc99\uc218\uc561\uc744 \uc8fc\uc0ac\uc561 \uc6a9\ub7c9\ub9cc\ud07c \uc81c\uac70\ud55c \ud6c4, \uc8fc\uc0ac\uc561\uc744 \ub123\uc5b4\uc57c \ud569\ub2c8\ub2e4.<\/p>\n\n\n<p>\uadf8\ub9ac\uace0 \uc8fc\uc0ac\uc561\uc758 \uc2a4\ucf00\uc904\uc740 \ub2e4\uc74c\uacfc \uac19\uc2b5\ub2c8\ub2e4. \uc8fc\uc0ac\uc57d\uc744 \uc2dc\uc791\ud558\uace0 2\uc8fc\uac04\uaca9\uc73c\ub85c 2\ucc28,3\ucc28\ub97c \uc2dc\ud589\ud558\uc5ec\uc57c \ud558\uba70, \ud55c\ub2ec\ud6c4 4\ucc28, \uadf8\ub9ac\uace0 4\uac1c\uc6d4 \ub9c8\ub2e4 \uc720\uc9c0 \uc6a9\ubc95\uc744 \ud574\uc57c \ud569\ub2c8\ub2e4. \uadf8\ub798\uc11c \uccab\ud574\uc5d0\ub294 \ucd1d 6\ubc88 \uc8fc\uc0ac\ub97c \uc2dc\ud589\ud558\uac8c \ub429\ub2c8\ub2e4. <\/p>\n\n\n<p>\uadf8\ub9ac\uace0, \uc57d\uc81c \ud22c\uc5ec\uc804, 4\ud68c \ud22c\uc5ec(\ub3c4\uc785\ud22c\uc5ec)\uc774\ud6c4, 5\ud68c \ud22c\uc5ec\uc804(\ucc98\uc74c \uc720\uc9c0 \ud22c\uc5ec), \ub9e4 \uc720\uc9c0\ud22c\uc5ec \uc774\uc804\uc5d0 \uc784\uc0c1\uc801\uc73c\ub85c  \ud3c9\uac00\ub97c \ud558\uac8c \ub418\uba70, 2\ud68c \uc774\uc0c1, \ud604 \uc0c1\ud0dc \uc720\uc9c0 \ud639\uc740 \uac1c\uc120\uc774 \ub418\uc9c0 \uc54a\uc73c\uba74 \uae09\uc5ec\uac00 \uc911\uc9c0\ub429\ub2c8\ub2e4.<\/p>\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"http:\/\/lougehrig.org\/wp-content\/uploads\/2019\/04\/1511904289829-1024x290.png\" alt=\"\" class=\"wp-image-113\"\/><\/figure>\n\n\n<p>\uc9c0\uae08\uae4c\uc9c0 \uc9c4\ub2e8\uc744 \ubc1b\uace0, \uce58\ub8cc\uac00 \uc5c6\ub294 \ubcd1\uc774 \uc2e0\uacbd\uadfc\uc721\uc9c8\ud658\uc5d0\uc11c\ub294 \uad49\uc7a5\ud788 \ub9ce\uc558\ub294\ub370, \ud604\uc2e4\uc801\uc73c\ub85c \ud658\uc790\uac00 \ub3c4\uc6c0\uc744 \ubc1b\uc744 \uc218 \uc788\ub294 \uae38\uc774 \uc5f4\ub824 \uad49\uc7a5\ud788 \uace0\ubb34\uc801\uc73c\ub85c \uc0dd\uac01\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. <\/p>\n\n\n<p style=\"font-size:13px\"> \ucc38\uace0\uc790\ub8cc<br \/>1. https:\/\/spinraza-hcp.com<br \/>2. Kolb, S. J. and J. T. Kissel (2011). &#8220;Spinal muscular atrophy: a timely review.&#8221; Arch Neurol 68(8): 979-984. <\/p>\n","protected":false},"excerpt":{"rendered":"<p>\ucd5c\uadfc \uae09\uc5ec\ub97c \ubc1b\uc740 \ucc99\uc218\uc131\uadfc\uc704\ucd95\uc99d(Spinal muscular atrophy, SMA)\uc758 \uce58\ub8cc\uc81c\uc640 \uadf8 \uad00\ub828\ub41c \uc774\uc57c\uae30\ub97c \ud574\ubcfc\uae4c \ud569\ub2c8\ub2e4. \ubbf8\ub9ac \ub9d0\uc500 \ub4dc\ub9ac\uc9c0\ub9cc \ubcd1\uc758 \uc774\ud574\ub97c \ub3d5\uae30 \uc704\ud574 \uc4f0\uc774\ub294 \ub2e8\uc5b4\uac00 \uc870\uae08 \uc5b4\ub824\uc6b8 \uc218 \uc788\uc2b5\ub2c8\ub2e4. \ucd5c\ub300\ud55c \uc27d\uac8c \ud480\uc5b4\uc11c \uc124\uba85 \ub4dc\ub9ac\uaca0\uc2b5\ub2c8\ub2e4. \ucc99\uc218\uc131\uadfc\uc704\ucd95\uc99d\uc740 \uc0c1\uc5fc\uc0c9\uccb4 \uc5f4\uc131\uc720\uc804\uc744 \ud558\ub294 \uc720\uc804\uc801\uc778 \uc9c8\ud658\uc73c\ub85c, \uc99d\uc0c1\uc740 \ubc1c\uc0dd\ud558\ub294 \uc2dc\uae30\uc5d0 \ub530\ub77c \ub2e4\uc18c \ub2e4\ub974\uc9c0\ub9cc, \ub300\uccb4\ub85c \uc0ac\uc9c0\uadfc\ub825\uc758 \uc800\ud558\uac00 \uc788\uc73c\uba74\uc11c \uc601\uc544 \ud639\uc740 \uc2e0\uc0dd\uc544\uc758 \uacbd\uc6b0\uc5d0\ub294 \ud638\ud761\uace4\ub780\uc774 \ud568\uaed8 \ub098\ud0c0\ub0a9\ub2c8\ub2e4. \uc99d\uc0c1 [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":28,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"tdm_status":"","tdm_grid_status":"","footnotes":""},"categories":[1],"tags":[],"class_list":{"0":"post-27","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-1"},"_links":{"self":[{"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/posts\/27","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/comments?post=27"}],"version-history":[{"count":0,"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/posts\/27\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/media\/28"}],"wp:attachment":[{"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/media?parent=27"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/categories?post=27"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lougehrig.org\/info\/wp-json\/wp\/v2\/tags?post=27"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}