Abstract：
BACKGROUND:Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder associated with spinal motor neuron loss and characterized by generalized muscle weakness. Only a few reports exist on SMA epidemiology in Japan. Additionally, nusinersen recently became available as a treatment for this condition. We estimated the prevalence of each type of SMA on Shikoku, Japan's fourth-largest major island. METHODS:We sent a questionnaire to all 131 hospitals in Shikoku that have pediatrics or neurology departments from March to September 2019, asking whether each hospital had SMA patients at that time. If so, we sent a second questionnaire to obtain more detailed information on the clinical data and treatment of each patient. RESULTS:A total of 117 hospitals (89.3%) responded to our first questionnaire, and 21 SMA patients were reported, 16 of whom had homozygous deletion of SMN1. Of the 21, nine had SMA type 1, five were type 2, five were type 3, one was type 4, and one was unidentified. The estimated prevalence for all instances of SMA and 5q-SMA was 0.56 and 0.43 per 100,000 people, respectively. Thirteen patients had received nusinersen therapy. Its outcomes varied from no obvious effects and being unable to sit to being able to sit independently. CONCLUSION:Our data showed the prevalence of SMA types 2 and 3 was relatively low on Shikoku compared with previous reports from other countries, suggesting delayed diagnosis may affect the results. Remaining motor function may be one predicting factor. Greater awareness of SMA among clinicians and patients seems necessary for more accurate epidemiological studies.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Okamoto K,Motoki T,Saito I,Urate R,Aibara K,Jogamoto T,Fukuda M,Wakamoto H,Maniwa S,Kondo Y,Toda Y,Goji A,Mori T,Soga T,Konishi Y,Nagai S,Takami Y,Tokorodani C,Nishiuchi R,Usui D,Ando R,Tada S,Yamanishi Y,Nadoi
10.1016/j.braindev.2020.05.004subject
Has Abstractpub_date
2020-09-01 00:00:00pages
594-602issue
8eissn
0387-7604issn
1872-7131pii
S0387-7604(20)30145-5journal_volume
42pub_type
杂志文章abstract：:From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80054-x
更新日期：1981-01-01 00:00:00
abstract：BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.07.003
更新日期：2019-11-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.11.011
更新日期：2014-10-01 00:00:00
abstract：:Glutamic acid decarboxylase (GAD) activity in the cerebrospinal fluid (CSF) of normal infants (n:14) and children (n:28) was determined by measuring the amount of 14CO2 released from L-[1-14C]-glutamic acid. The mean GAD activity in CSF of infants and children was 5.2 +/- 2.5 pmol CO2 formed/hr/ml. Dividing these subj...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80079-5
更新日期：1983-01-01 00:00:00
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journal_title：Brain & development
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doi：10.1016/j.braindev.2010.03.003
更新日期：2011-02-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2003.11.002
更新日期：2004-09-01 00:00:00
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journal_title：Brain & development
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.braindev.2011.01.007
更新日期：2011-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.02.002
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pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80026-0
更新日期：1982-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)00054-8
更新日期：2003-09-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80046-7
更新日期：1984-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80008-9
更新日期：1982-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.08.004
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pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80299-3
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.04.004
更新日期：2007-11-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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pub_type： 杂志文章
doi：10.1016/0387-7604(94)90114-7
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pub_type： 杂志文章,评审
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journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2010-03-01 00:00:00
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journal_title：Brain & development
pub_type： 临床试验,杂志文章,多中心研究
doi：
更新日期：1995-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2020-06-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.010
更新日期：2013-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00496-2
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.07.008
更新日期：2009-06-01 00:00:00
