title: GNE myopathy: a prospective natural history study of disease progression.
abstract: Mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene cause GNE myopathy, a mildly progressive autosomal recessive myopathy. We performed a prospective natural history study in 24 patients with GNE myopathy to select evaluation tools for use in upcoming clinical trials. Patient clinical conditions were evaluated at study entry and one-year follow-up. Of the 24 patients, eight (33.3%) completed a standard 6-min walk test without assistance. No cardiac events were observed. Summed manual muscle testing of 17 muscles, grip power, and percent force vital capacity (%FVC) were significantly reduced (p<0.05), and scores for 6-min walk test and gross motor function measure were decreased (p<0.1) after one year. The decrement in %FVC was significant among non-ambulant patients, whereas the decrement in grip power tended to be greater among ambulant patients. The 6-min walk test, gross motor function measure, manual muscle testing, grip power, and %FVC reflect annual changes and are thus considered good evaluation tools for clinical trials.
authors.affiliation: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. Electronic address: yoshimur@ncnp.go.jp.
authors.forename: Madoka
authors.initials: M
authors.lastname: Mori-Yoshimura
authors.affiliation: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Oya
authors.affiliation: Department of Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Yajima
authors.affiliation: Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Naohiro
authors.initials: N
authors.lastname: Yonemoto
authors.affiliation: Department of Rehabilitation, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Kobayashi
authors.affiliation: Department of Neurophysiology, Tokyo Medical University, Shinjuku, Tokyo, Japan; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Noguchi
authors.affiliation: Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.affiliation: Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Murata
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004185:Disability Evaluation; D018450:Disease Progression; D049310:Distal Myopathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D018737:Hand Strength; D006334:Heart Function Tests; D006801:Humans; D008297:Male; D008875:Middle Aged; D009043:Motor Activity; D009097:Multienzyme Complexes / Q000235:genetics; D053580:Muscle Strength; D011446:Prospective Studies; D012129:Respiratory Function Tests; D016138:Walking; D055815:Young Adult
chemical_list: D009097:Multienzyme Complexes; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
keywords: Distal myopathy with rimmed vacuoles (DMRV); GNE myopathy; Natural history; Respiratory function