National registry of patients with Fukuyama congenital muscular dystrophy in Japan |
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| Institution: | 1. Department of Pediatrics, Tokyo Women''s Medical University, School of Medicine, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan;2. The Japan Muscular Dystrophy Association, Tokyo, Japan;3. Clinical Research Support Office, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan;4. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan;5. Department of Biostatistics, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan;6. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan;7. Extra Early Exploratory Clinical Trial Unit, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan;8. Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan;1. Department of Pathology, Charité – Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany;2. Department of Neuropathology, Charité – Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany;3. Department of Neurology, Charité – Universitätsmedizin Berlin, Chariteplatz 1, 10117 Berlin, Germany;4. Cryo EM, CAM, Universität Heidelberg, Im Neuenheimer Feld 225 69120 Heidelberg, Germany;5. Cryo EM, BioQuant, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 225 69120 Heidelberg, Germany;6. Department of Pathology, CHU de Nice, University Côte d''Azur, Hopital Saint Roch 5 rue Pierre Devoluy, France;7. Peripheral Nervous System, Muscle and ALS Department, Institute for Research on Cancer and Aging of Nice (IRCAN), CNRS UMR 7284, INSERM U1081, University Côte d''Azur, CHU Nice, 30, Avenue de la Voie Romaine, France;1. UOC di Fisiopatologia, Malattie e Riabilitazione Respiratoria, AO Ospedali dei Colli, Napoli PO Monaldi Ospedale, Italy;2. Intensive Care Unit, Hospital Morales Meseguer, Murcia, Spain;1. Service d''Explorations Fonctionnelles Respiratoires, AP-HP, Hôpital Raymond Poincaré, INSERM U1179, UVSQ, 92380, Garches, France;2. CIC 1429, AP-HP, Hôpital Raymond Poincaré, INSERM U1179, UVSQ, 92380, Garches, France;3. Service de réanimation, AP-HP, Hôpital Raymond Poincaré, 92380, Garches, France;4. CIC 1429, INSERM, AP-HP, Hôpital Raymond Poincaré, 92380, Garches, France;5. Service de cardiologie, Hôpital Cochin, APHP, Université Paris Descartes-Sorbonne Paris Cité, Paris, France;6. Centre de Référence de Pathologie Neuromusculaire Paris-Est, GH Pitié-Salpêtrière, Institut de Myologie, Paris, France;7. INSERM U1179, AFM-Téléthon. UVSQ, Evry. France;1. Service of Clinical Pharmacology, Lausanne University Hospital (CHUV), Bugnon 17, 1011 Lausanne, Switzerland;2. Center for Molecular Diseases, Division of Genetic Medicine, Lausanne University Hospital (CHUV), Pierre-Decker 2, 1011 Lausanne, Switzerland;3. Paediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital (CHUV), Pierre-Decker 5, 1011 Lausanne, Switzerland;4. Pediatric Neurology, University Children''s Hospital Basel, UKBB, and Inselspital Bern, Switzerland;5. Institute of Social and Preventive Medicine, University of Bern, Switzerland |
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| Abstract: | Fukuyama congenital muscular dystrophy (FCMD) is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene. In 2011, the Japan Muscular Dystrophy Association (JMDA) developed a nationwide registry of genetically confirmed patients with FCMD. We retrospectively reviewed the registry dataset of patients with FCMD to obtain data, including age, sex, developmental milestones, intellectual level, complications, and primary treatments. In total, 207 patients with FCMD (104 boys and 103 girls) were registered by the end of September 2013. Mean patient age at first registration was 8.1 ± 7.8 years (median, 6 years; range, 0–42 years). A homozygous 3-kb founder insertion mutation in the FKTN gene was present in 80% of registrants, whereas 20% had a compound heterozygous mutation. Sixty-nine patients (33%) had febrile seizures and/or epilepsy. Myopia was the most frequently detected abnormality (8.7%), followed by strabismus (5.9%). Overall, 16% of patients required respiratory support and this percentage increased with age. Cardiac dysfunction was detected in 16%, and dysphagia was observed in 22% of patients with FCMD. The FCMD patient registry is useful for clarifying the natural history of FCMD and recruiting patients for clinical trials. |
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