The gross motor function measure is valid for Fukuyama congenital muscular dystrophy
The gross motor function measure is valid for Fukuyama congenital muscular dystrophy
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DOI：
10.1016/j.nmd.2016.09.014
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发表时间：
2017-01-01
影响因子：
2.8
通讯作者：
Ishigaki, Keiko
中科院分区：
文献类型：
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作者：
Sato, Takatoshi;Adachi, Michiru;Ishigaki, Keiko
福山先天性肌营养不良症（FCMD）是日本第二常见的肌营养不良症。FCMD是一种由fuklidine基因突变引起的常染色体隐性遗传疾病。FCMD的主要特征是运动性肌张力减退、全身性肌无力、眼部异常和与皮质迁移缺陷相关的智力迟钝的组合，并且大多数患者永远不能行走。迄今为止，由于伴随FCMD的中度至重度智力障碍，FMCD的定量运动量表的开发一直很困难。粗大运动功能量表（GMFM）最初是作为脑瘫运动功能的定量评定量表而开发的，它能准确、定量地评定脑瘫患儿的运动功能，且不需要复杂的指导，最近被报道可用于唐氏综合征和脊髓性肌萎缩症的评定。为了证实GMFM评估FCMD的有效性，本研究招募了41名FCMD患者（年龄范围：0.6-24.4岁）。GMFM评分与之前使用的两种运动量表评分显着相关，GMFM评分的时间依赖性变化与FCMD的自然病程一致。基于四位物理治疗师对彼此的评估结果不知情的决定，评估者间的可靠性非常好。我们的结论是GMFM是一个有用的和有效的措施FCMD患者的运动功能。(c)2016爱思唯尔B. V.保留所有权利。
Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan. FCMD is an autosomal recessive disorder caused by mutations in the fukutin gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities, and mental retardation associated with cortical migration defects, and most patients are never able to walk. To date, the development of a quantitative motor scale for FMCD has been difficult due to the moderate-to-severe intellectual impairment that accompanies FCMD. Gross motor function measure (GMFM), originally developed as a quantitative motor scale for cerebral palsy, can precisely and quantitatively assess motor function without complicated instructions, and was recently reported to be useful in the assessment of Down syndrome and spinal muscular atrophy. To confirm the validity of GMFM for the assessment of FCMD, 41 FCMD patients (age range: 0.6-24.4 years) were recruited for this study. The GMFM scores correlated significantly with those of two previously used motor scales, and the time-dependent change in GMFM scores was consistent with the natural course of FCMD. The inter-rater reliability, based on determinations made by four physiotherapists blinded to each other's assessment results, was excellent. We concluded GMFM to be a useful and valid measure of motor function in FCMD patients.(c) 2016 Elsevier B.V. All rights reserved.