Journal
NEUROMUSCULAR DISORDERS
Volume 24, Issue 5, Pages 380-386Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2014.02.008
Keywords
GNE myopathy; Distal myopathy with rimmed vacuoles (DMRV); Natural history; Respiratory function
Categories
Funding
- Research on Rare and Intractable Diseases and Labour Sciences Research Grants
- Comprehensive Research on Disability Health and Welfare Grants
- Health and Labour Science Research Grants
- Intramural Research Grants for Neurological and Psychiatric Disorders from the National Center of Neurology and Psychiatry [23-4/24-6]
- Grants-in-Aid for Scientific Research [25461323] Funding Source: KAKEN
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Mutations in the glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene cause ONE myopathy, a mildly progressive autosomal recessive myopathy. We performed a prospective natural history study in 24 patients with ONE 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-mM 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. (C) 2014 Elsevier B.V. All rights reserved.
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