Patient reported quality of life in limb girdle muscular dystrophy |
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| Affiliation: | 1. Department of Neurology, Virginia Commonwealth University, 1101 E Marshall St Box 980599, Richmond, VA 23298 USA;2. Department of Neurology, Kansas University Medical Center, 2100?W. 36th Avenue Suite 122, Kansas City, KS 66103 USA;3. Department of Neurology Washington University, Campus Box 8111 660 S. Euclid Ave., St Louis, MO 63110 USA;4. Paul & Sheila Wellstone Muscular Dystrophy Center and Department of Neurology, University of Minnesota, 516 Delaware ST SE, Minneapolis, MN 55455 USA;5. Center for Gene Therapy, Nationwide Children''s Hospital, 575 Children''s Crossroad Columbus, OH 43205 USA;6. Department of Neurology, University of California, Irvine, 200 S. Manchester Ave. Ste. 206, Orange, CA 92868 USA;7. John Walton Muscular Dystrophy Research Centre, Newcastle University, Central Pkwy, Newcastle upon Tyne NE1 3BZ, UK;8. Department of Neurology, University of Colorado, 12700 East 19th Avenue 5018, Aurora, CO 80045 USA;9. Department of Neurology, University of Rochester, Box 673 601 Elmwood Ave. Rochester, NY 14642 USA;10. Center for Health and Technology, University of Rochester, 265 Crittenden Blvd, CU 420694 Rochester, NY 14642 USA;1. Departments of Neurology, Mayo Clinic, Rochester, MN;2. Departments of Radiology, Mayo Clinic, Rochester, MN;1. Friedrich-Baur-Institute, Department of Neurology, University Hospital, LMU Munich, Munich, Germany;2. Department of Dermatology and Allergology, University Hospital, LMU Munich, Munich, Germany;3. Department of Internal Medicine III, University Hospital, LMU Munich, Munich, Germany;4. Medical Genetics Center, MGZ, Munich, Germany;1. Department of Neurology, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-8655, Japan;2. Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-8655, Japan;3. Department of Physical Therapy, Tokyo University of Technology, 5-25-8, Nishi-kamata, Ohta-ku, Tokyo 144-0051, Japan;4. Department of Neurology, National Center of Neurology and Psychiatry, National Center Hospital, , 4-1-1, Ogawa-higashimachi, Kodaira-shi, Tokyo 187-8551, Japan;5. Department of Neurology and Anti-aging Medicine, National Defense Medical College, 3-2, Namiki, Tokorozawa-shi, Saitama 359-8513, Japan;6. Department of Neurology, Mitsui Memorial Hospital, 1 Kanda-izumicho, Chiyoda-ku, Tokyo 101-8643, Japan;7. Department of Neurology, Jichi Medical University Saitama Medical Center, 1-847, Amanuma-cho, Ohmiya-ku, Saitama-shi, Saitama 330-0834, Japan;8. Department of Neurology, National Center for Global Health and Medicine, 1-21-1, Toyama, Shinjuku-ku, Tokyo 162-8655, Japan;9. Department of Neurology, Tokyo Teishin Hospital, 2-14-23, Fujimi, Chiyoda-ku, Tokyo 102-0071, Japan;10. Department of Neurology, Toranomon Hospital, 2-2-2, Toranomon, Minato-ku, Tokyo 105-8470, Japan;11. Department of Neurology, Japanese Red Cross Medical Center, 4-1-22, Hiroo, Shibuya-ku, Tokyo 150-8935, Japan;12. Department of Neurology, International University of Health and Welfare Mita Hospital, 1-4-3, Mita, Minato-ku, Tokyo 108-8329, Japan;13. Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Yoshida-konoecho, Sakyo-ku, Kyoto-shi, Kyoto 606-8303, Japan;14. Ijinkai Takeda General Hospital, Ishidamoriminamicho, Fushimi-ku, Kyoto-shi, Kyoto 601-1495, Japan;1. Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy;2. Queen Square Center for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK;3. Dubowitz Neuromuscular Center, UCL GOS Institute of Child Health, UK;4. Paediatric neuroradiology, Sidra Medicine, Qatar;5. Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy;6. Department of Pediatric Neurology, Catholic University, Rome, Italy;7. Centro Clinico Nemo, Policlinico Universitario A Gemelli IRCCS, Rome, Italy;8. NIHR Great Ormond Street Hospital Biomedical Research Center, Great Ormond Street Institute of Child Health University College London and Great Ormond Street Hospital Trust, London, UK;9. Neuroradiological Academic Unit, Queen Square UCL Institute of Neurology and Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, UCLH, London, UK;1. APHP, Service de Radiologie GH Université Paris-Saclay DMU Smart Imaging, Hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré, Garches 94400, France;2. AP-HP, Service de Neurologie, GH Université Paris-Saclay, DMU Neuro-Handicap, Hôpital Raymond-Poincaré, Garches, France;3. Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, France;4. AP-HP, Hôpital Pitié-Salpêtrière, Paris 75013, France;5. APHP, Laboratoire de Génétique Moléculaire, Université Paris Saclay, Hôpital Antoine Béclère, Clamart 92140, France;6. Neurosciences Department (DNS), University of Padova, Padova, Italy;7. AIM & CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France;8. UMR 1179, Université Versailles Saint Quentin en Yvelines, Paris Saclay, France |
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| Abstract: | This study determined the frequency and impact of symptoms on quality of life in patients diagnosed with limb girdle muscular dystrophy (LGMD). Participants with a diagnosis of LGMD in registries based at the Coalition to Cure Calpain-3, the Jain foundation, and the Global FKRP Registry competed a survey to report the frequency and relative impact of themes and symptoms of LGMD. Frequency, mean impact, and population impact scores were calculated, and responses were categorized by age, symptom duration, gender, employment status, use of assistive devices, and LGMD subtypes. 134 participants completed the survey. The most prevalent themes included an inability to do activities (100%), limitation with mobility (99.3%), and lower extremity weakness (97.0%). Themes with the greatest impact were: limitations with mobility, lower extremity weakness, and an inability to do activities. Symptom duration and the use of assistive devices were associated with the presence of multiple themes. Employment was associated with the impact of several themes with no differences in frequency. The prevalence and impact of these themes vary in the LMGD population. The most prevalent and impactful themes were related to weakness, but additional concerns related to emotional challenges should also be considered in clinical and research settings. |
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