{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T21:44:52Z","timestamp":1792878292978,"version":"4.5.0"},"reference-count":128,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,12,16]],"date-time":"2014-12-16T00:00:00Z","timestamp":1418688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"NIH-NICHD","award":["5K12HD001097-17"],"award-info":[{"award-number":["5K12HD001097-17"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. In this review we provide an update regarding the most common form of SMA, proximal or 5q\u2010SMA, and discuss the contemporary approach to diagnosis and treatment. Electromyography and muscle biopsy features of denervation were once the basis for diagnosis, but molecular testing for homozygous deletion or mutation of the\n                    <jats:italic>SMN1<\/jats:italic>\n                    gene allows efficient and specific diagnosis. In combination with loss of\n                    <jats:italic>SMN1<\/jats:italic>\n                    , patients retain variable numbers of copies of a second similar gene,\n                    <jats:italic>SMN2<\/jats:italic>\n                    , which produces reduced levels of the survival motor neuron (SMN) protein that are insufficient for normal motor neuron function. Despite the fact that understanding of how ubiquitous reduction of SMN protein leads to motor neuron loss remains incomplete, several promising therapeutics are now being tested in early\u2010phase clinical trials. Muscle Nerve\n                    <jats:bold>51<\/jats:bold>\n                    : 157\u2013167, 2015\n                  <\/jats:p>","DOI":"10.1002\/mus.24497","type":"journal-article","created":{"date-parts":[[2014,10,24]],"date-time":"2014-10-24T05:13:32Z","timestamp":1414127612000},"page":"157-167","source":"Crossref","is-referenced-by-count":373,"title":["Spinal muscular atrophy: Diagnosis and management in a new therapeutic era"],"prefix":"10.1002","volume":"51","author":[{"given":"W. David","family":"Arnold","sequence":"first","affiliation":[{"name":"Division of Neuromuscular Disorders, Department of Neurology Wexner Medical Center, The Ohio State University 395 West 12th Avenue Columbus Ohio 43210 USA"},{"name":"Department of Physical Medicine and Rehabilitation Wexner Medical Center, The Ohio State University Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darine","family":"Kassar","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Disorders, Department of Neurology Wexner Medical Center, The Ohio State University 395 West 12th Avenue Columbus Ohio 43210 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John T.","family":"Kissel","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Disorders, Department of Neurology Wexner Medical Center, The Ohio State University 395 West 12th Avenue Columbus Ohio 43210 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,12,16]]},"reference":[{"key":"e_1_2_15_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.6.409"},{"key":"e_1_2_15_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33474"},{"key":"e_1_2_15_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_15_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.239.33"},{"key":"e_1_2_15_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng854"},{"key":"e_1_2_15_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1207"},{"key":"e_1_2_15_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.11.6307"},{"key":"e_1_2_15_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.7.1177"},{"key":"e_1_2_15_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1995.2135"},{"key":"e_1_2_15_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0598-63"},{"key":"e_1_2_15_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.2.259"},{"key":"e_1_2_15_13_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01262-08"},{"key":"e_1_2_15_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1996.tb00725.x"},{"key":"e_1_2_15_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.18.9920"},{"key":"e_1_2_15_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2012.02.051"},{"key":"e_1_2_15_17_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.5775-11.2012"},{"key":"e_1_2_15_18_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0204-12.2012"},{"key":"e_1_2_15_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm379"},{"key":"e_1_2_15_20_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2208-10.2010"},{"key":"e_1_2_15_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.09.011"},{"key":"e_1_2_15_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.09.012"},{"key":"e_1_2_15_23_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.13.5543-5551.2005"},{"key":"e_1_2_15_24_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0000921"},{"key":"e_1_2_15_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1319280110"},{"key":"e_1_2_15_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.09.011"},{"key":"e_1_2_15_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23995"},{"key":"e_1_2_15_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2670"},{"key":"e_1_2_15_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm367"},{"key":"e_1_2_15_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn189"},{"key":"e_1_2_15_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn156"},{"key":"e_1_2_15_32_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4434-08.2009"},{"key":"e_1_2_15_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00839207"},{"key":"e_1_2_15_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(66)90016-5"},{"key":"e_1_2_15_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(67)90013-5"},{"key":"e_1_2_15_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(06)80015-5"},{"key":"e_1_2_15_37_1","doi-asserted-by":"publisher","DOI":"10.1086\/513886"},{"key":"e_1_2_15_38_1","doi-asserted-by":"publisher","DOI":"10.1086\/515465"},{"key":"e_1_2_15_39_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200201000-00004"},{"key":"e_1_2_15_40_1","doi-asserted-by":"publisher","DOI":"10.1086\/302369"},{"key":"e_1_2_15_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21350"},{"key":"e_1_2_15_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.08.002"},{"key":"e_1_2_15_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21173"},{"key":"e_1_2_15_44_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.079004"},{"key":"e_1_2_15_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00212028"},{"key":"e_1_2_15_46_1","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben JM","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_15_47_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.10.1927"},{"key":"e_1_2_15_48_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1155085"},{"key":"e_1_2_15_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.03.009"},{"key":"e_1_2_15_50_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540290108025"},{"key":"e_1_2_15_51_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305788"},{"key":"e_1_2_15_52_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-2952K"},{"key":"e_1_2_15_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(06)80008-8"},{"key":"e_1_2_15_54_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00274-7"},{"key":"e_1_2_15_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80015-4"},{"key":"e_1_2_15_56_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80012-9"},{"key":"e_1_2_15_57_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.20.11.1124"},{"key":"e_1_2_15_58_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.48.5.386"},{"key":"e_1_2_15_59_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-008-0929-0"},{"key":"e_1_2_15_60_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq300"},{"key":"e_1_2_15_61_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr600"},{"key":"e_1_2_15_62_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23582"},{"key":"e_1_2_15_63_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu052"},{"key":"e_1_2_15_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21654"},{"key":"e_1_2_15_65_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057950"},{"key":"e_1_2_15_66_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000052788.39340.45"},{"key":"e_1_2_15_67_1","first-page":"475","article-title":"Gastrointestinal radiologic manifestations of proximal spinal muscular atrophy (Kugelberg\u2010Welander syndrome)","volume":"74","author":"Karasick D","year":"1982","journal-title":"J Natl Med Assoc"},{"key":"e_1_2_15_68_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880170816"},{"key":"e_1_2_15_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2012.11.002"},{"key":"e_1_2_15_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pmr.2012.06.002"},{"key":"e_1_2_15_71_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318220d523"},{"key":"e_1_2_15_72_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.10"},{"key":"e_1_2_15_73_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066969"},{"key":"e_1_2_15_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"e_1_2_15_75_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807305668"},{"key":"e_1_2_15_76_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.5.1087"},{"key":"e_1_2_15_77_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/93.1.15"},{"key":"e_1_2_15_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880090106"},{"key":"e_1_2_15_79_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20473"},{"key":"e_1_2_15_80_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23722"},{"key":"e_1_2_15_81_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21838"},{"key":"e_1_2_15_82_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23967"},{"key":"e_1_2_15_83_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.34.2.121"},{"key":"e_1_2_15_84_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.1128"},{"key":"e_1_2_15_85_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10050"},{"key":"e_1_2_15_86_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182749eca"},{"key":"e_1_2_15_87_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880070402"},{"key":"e_1_2_15_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.09.006"},{"key":"e_1_2_15_89_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.23"},{"key":"e_1_2_15_90_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.13.12.1059"},{"key":"e_1_2_15_91_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.29.1.23"},{"key":"e_1_2_15_92_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880070513"},{"key":"e_1_2_15_93_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000290830.40544.b9"},{"key":"e_1_2_15_94_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-003-0743-9"},{"key":"e_1_2_15_95_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2008.00910.x"},{"key":"e_1_2_15_96_1","doi-asserted-by":"publisher","DOI":"10.1183\/09059180.00003113"},{"key":"e_1_2_15_97_1","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2004.039388"},{"key":"e_1_2_15_98_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80740-1"},{"key":"e_1_2_15_99_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00227-0"},{"key":"e_1_2_15_100_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1071-9091(98)80026-0"},{"key":"e_1_2_15_101_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-830366"},{"key":"e_1_2_15_102_1","article-title":"Nutritional practices at a glance: spinal muscular atrophy type i nutrition survey findings","author":"Davis RH","journal-title":"J Child Neurol"},{"key":"e_1_2_15_103_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199903)45:3<337::AID-ANA9>3.0.CO;2-U"},{"key":"e_1_2_15_104_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.apmr.2004.01.043"},{"key":"e_1_2_15_105_1","doi-asserted-by":"publisher","DOI":"10.5604\/15093492.933792"},{"key":"e_1_2_15_106_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181d3e308"},{"key":"e_1_2_15_107_1","first-page":"113","article-title":"Proximal spinal muscular atrophy: current orthopedic perspective","volume":"6","author":"Haaker G","year":"2013","journal-title":"Appl Clin Genet"},{"key":"e_1_2_15_108_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307388900400208"},{"key":"e_1_2_15_109_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00402-012-1610-8"},{"key":"e_1_2_15_110_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(93)90061-N"},{"key":"e_1_2_15_111_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.3.333"},{"key":"e_1_2_15_112_1","doi-asserted-by":"publisher","DOI":"10.1038\/71709"},{"key":"e_1_2_15_113_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.11.1601"},{"key":"e_1_2_15_114_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738030180080501"},{"key":"e_1_2_15_115_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0021296"},{"key":"e_1_2_15_116_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23904"},{"key":"e_1_2_15_117_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012140"},{"key":"e_1_2_15_118_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005268"},{"key":"e_1_2_15_119_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000249142.82285.d6"},{"key":"e_1_2_15_120_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2007.11.012"},{"key":"e_1_2_15_121_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1610"},{"key":"e_1_2_15_122_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr275"},{"key":"e_1_2_15_123_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI57291"},{"key":"e_1_2_15_124_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu169"},{"key":"e_1_2_15_125_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq514"},{"key":"e_1_2_15_126_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3000830"},{"key":"e_1_2_15_127_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI41615"},{"key":"e_1_2_15_128_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2012.225"},{"key":"e_1_2_15_129_1","doi-asserted-by":"crossref","first-page":"S36.002","DOI":"10.1212\/WNL.80.7_supplement.S36.002","article-title":"Results of an open\u2010label, escalating dose study to assess the safety, tolerability, and dose range finding of a single intrathecal dose of ISIS\u2010SMNRx in patients with spinal muscular atrophy (S36.002)","volume":"80","author":"Chiriboga C","year":"2013","journal-title":"Neurology"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24497","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24497","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24497","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,4]],"date-time":"2024-06-04T05:43:49Z","timestamp":1717479829000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24497"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,16]]},"references-count":128,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1002\/mus.24497"],"URL":"https:\/\/doi.org\/10.1002\/mus.24497","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,16]]}}}