title: Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan.
abstract: The national muscular dystrophy wards database of Japan lists 118 long-term Duchenne muscular dystrophy (DMD) patients who were at least 40 years old as of October 1, 2013. To elucidate the clinical features of DMD patients aged 40 years and older, we obtained gene analysis and muscle biopsy findings, as well as medical condition information. Ninety-four of the registered patients consented to participate, of whom 55 meeting genetic or biochemical criteria confirming DMD were analyzed. The mean age at the time of the study was 43.6 ± 3.0 years, while at the time of independent ambulation loss it was 10.6 ± 1.5 years and at mechanical ventilation introduction it was 24.1 ± 5.5 years. All were receiving continuous ventilation support, 27 with non-invasive positive pressure ventilation and 28 with tracheal intermittent positive pressure ventilation. Thirty-eight were receiving β-blockers or a renin-angiotensin system inhibitor, while 9 were free from those agents. Forty had maintained oral nutrition. The 55 analyzed patients had survived into their 40s by receiving multidisciplinary intervention. Our findings emphasize the need of future studies to investigate disease modifiers and the mechanism of long-term survival. In addition, establishment of a worldwide care standard with focus on quality of life for adult males with DMD is important.
authors.affiliation: Division of Child Neurology, Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Osaka, Japan. Electronic address: saitot@toneyama.go.jp.
authors.forename: Toshio
authors.initials: T
authors.lastname: Saito
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Kawai
authors.affiliation: National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: En
authors.initials: E
authors.lastname: Kimura
authors.affiliation: Department of Neurology, National Hospital Organization Higashisaitama Hospital, Hasuda, Saitama, Japan.
authors.forename: Katsuhisa
authors.initials: K
authors.lastname: Ogata
authors.affiliation: Department of Neurology, National Hospital Organization Sendai-Nishitaga National Hospital, Sendai, Miyagi, Japan.
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Takahashi
authors.affiliation: Department of Neurology, National Hospital Organization National Akita Hospital, Yurihonjo, Akita, Japan.
authors.forename: Michio
authors.initials: M
authors.lastname: Kobayashi
authors.affiliation: Department of Neurology, National Hospital Organization National Aomori Hospital, Aomori, Japan.
authors.forename: Hiroto
authors.initials: H
authors.lastname: Takada
authors.affiliation: Department of Neurology, National Hospital Organization National Suzuka Hospital, Suzuka, Mie, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kuru
authors.affiliation: Department of Neurology, National Hospital Organization National Shimoshizu Hospital, Yotsukaido, Chiba, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Mikata
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Osaka, Japan.
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Matsumura
authors.affiliation: National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Naohiro
authors.initials: N
authors.lastname: Yonemoto
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Osaka, Japan.
authors.forename: Harutoshi
authors.initials: H
authors.lastname: Fujimura
authors.affiliation: Department of Neurology, National Hospital Organization Toneyama National Hospital, Toyonaka, Osaka, Japan.
authors.forename: Saburo
authors.initials: S
authors.lastname: Sakoda
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D006801:Humans; D007326:Institutionalization; D007564:Japan; D008297:Male; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000188:drug therapy / Q000503:physiopathology / Q000628:therapy*; D017741:Survivors
keywords: Conventional multidisciplinary care; Duchenne muscular dystrophy (DMD); Long-term survivor