サトウ　タカトシ   Satou Takatoshi   佐藤　孝俊    所属   医学部 医学科（東京女子医科大学病院）    職種   助教
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy.
掲載誌名	正式名：Neuromuscular disorders : NMD 略　 称：Neuromuscul Disord ISSNコード：18732364/09608966
掲載区分	国外
巻・号・頁	27(1),pp.45-49
著者・共著者	Sato Takatoshi, Adachi Michiru, Nakamura Kaho, Zushi Masaya, Goto Keisuke, Murakami Terumi, Ishiguro Kumiko, Shichiji Minobu, Saito Kayoko, Ikai Tetsuo, Osawa Makiko, Kondo Izumi, Nagata Satoru, Ishigaki Keiko
発行年月	2017/01
概要	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.
DOI	10.1016/j.nmd.2016.09.014
PMID	27818010