Ambulatory capacity in Japanese patients with Duchenne muscular dystrophy [0.03%]
日本杜氏肌营养不良症患者门诊就诊能力调查研究
Hiroyuki Awano,Chieko Itoh,Yasuhiro Takeshima et al.
Hiroyuki Awano et al.
Introduction: Few long-term cohort studies have addressed changes in the ambulatory capacity of patients with Duchenne muscular dystrophy (DMD), and no reports have evaluated the factors associated with ambulatory capacit...
Successful hemispherotomy in two refractory epilepsy patients with cerebral hemiatrophy and contralateral EEG abnormalities [0.03%]
半球萎缩伴对侧脑电图异常的难治性癫痫患者行半球离断术效果良好
Rumiko Takayama,Katsumi Imai,Hiroko Ikeda et al.
Rumiko Takayama et al.
We describe two cases of refractory epilepsy with cerebral hemiatrophy and contralateral electroencephalographic (EEG) abnormalities, in which hemispherotomy of the atrophic hemisphere effectively controlled seizures. Case 1 was a 5-year-1-...
A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl [0.03%]
一个新的STXBP1突变导致一个日本女孩出现典型的雷特综合征症状
Kotaro Yuge,Kazuhiro Iwama,Chihiro Yonee et al.
Kotaro Yuge et al.
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese...
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span [0.03%]
KIF1C基因突变导致的遗传性痉挛性截瘫一生中的临床表型特征分析
Didem Yücel-Yılmaz,Emrah Yücesan,Dilek Yalnızoğlu et al.
Didem Yücel-Yılmaz et al.
Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic causes of HSP and associated with pu...
Identification of sleep hypoventilation in young individuals with Becker muscular dystrophy: A pilot study [0.03%]
贝克尔型肌营养不良症青年患者睡眠性低通气的识别：一项试点研究
Yuko Nakamura,Yoshiaki Saito,Norika Kubota et al.
Yuko Nakamura et al.
Aim: To report on sleep hypercapnia in Becker muscular dystrophy (BMD) at earlier stages than ever recognized. Subjects and methods: Th...
De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies [0.03%]
组蛋白脱乙酰酶8的新突变引起雷特病相关综合征及其特有的面容和多发畸形
Tomoko Saikusa,Munetsugu Hara,Kazuhiro Iwama et al.
Tomoko Saikusa et al.
We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, cong...
Effect of botulinum toxin type A treatment in children with cerebral palsy: Sequential physical changes for 3 months after the injection [0.03%]
肉毒杆菌素A治疗脑瘫患儿的疗效及其注射后三个月内临床及运动功能变化规律的研究
Mayumi Matsuda,Kazuhide Tomita,Arito Yozu et al.
Mayumi Matsuda et al.
Purpose: This study investigated the sequential physical changes after botulinum toxin type A (BTX-A) injected in children with cerebral palsy. Methods: ...
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation [0.03%]
NDUFA1杂合突变导致脊髓受累的 Leigh综合征
Akihiko Miyauchi,Hitoshi Osaka,Masako Nagashima et al.
Akihiko Miyauchi et al.
Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal ganglia and/or ...
A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins [0.03%]
中国双胞胎中PGIA的新突变导致早发性癫痫性脑病
Ling-Ling Xie,Xiao-Jie Song,Tian-Yi Li et al.
Ling-Ling Xie et al.
We report a case of 14-month-old male monozygotic twins showing early-onset intractable epilepsy, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. They presented with refractory partial and secondary generalized to...
Fazio-Londe syndrome in siblings from India with different phenotypes [0.03%]
印度两兄弟姐妹中的法乔-隆德综合征及不同临床表现
Vykuntaraju K Gowda,Tamilarasan Udhayabanu,Perumal Varalakshmi et al.
Vykuntaraju K Gowda et al.
Background: Fazio-Londe syndrome also called progressive bulbar palsy of childhood is a very rare motor neuron disease of pediatric age group characterized by progressive paralysis of lower cranial nerves. ...