[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].

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  • Author(s): Mori-Yoshimura M;Mori-Yoshimura M; Nishino I
  • Source:
    Brain and nerve = Shinkei kenkyu no shinpo [Brain Nerve] 2015 Sep; Vol. 67 (9), pp. 1115-23.
  • Publication Type:
    English Abstract; Journal Article; Review
  • Language:
    Japanese
  • Additional Information
    • Source:
      Publisher: igaku Shoin Country of Publication: Japan NLM ID: 101299709 Publication Model: Print Cited Medium: Print ISSN: 1881-6096 (Print) Linking ISSN: 18816096 NLM ISO Abbreviation: Brain Nerve Subsets: MEDLINE
    • Publication Information:
      Original Publication: Tōkyō : igaku Shoin
    • Subject Terms:
      Distal Myopathies/*drug therapy ; Muscle, Skeletal/*pathology ; N-Acetylneuraminic Acid/*therapeutic use ; Vacuoles/*genetics; Animals ; Disease Models, Animal ; Distal Myopathies/diagnosis ; Distal Myopathies/epidemiology ; Distal Myopathies/genetics ; Humans ; Treatment Outcome ; Vacuoles/metabolism
    • Abstract:
      Distal myopathy with rimmed vacuoles or GNE myopathy, is an early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscle. Severely affected patients show marked limb muscle atrophy together with respiratory dysfunction. The disease is caused by a mutation in the GNE gene that catalyzes two rate-limiting reactions in cytosolic sialic acid synthesis. Oral treatment with sialic acid metabolite prevents muscle atrophy and weakness in a mouse GNE myopathy model and a global Phase III study is currently underway. In addition, a global patient registry of neuromuscular cases is widely accepted as a useful tool to obtain epidemiological data and bolster patient recruitment for further development of this treatment strategy.
    • Accession Number:
      GZP2782OP0 (N-Acetylneuraminic Acid)
    • Publication Date:
      Date Created: 20150903 Date Completed: 20151130 Latest Revision: 20150902
    • Publication Date:
      20221213
    • Accession Number:
      10.11477/mf.1416200269
    • Accession Number:
      26329152