A rare case of monozygotic triplets with Duchenne muscular dystrophy |
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| Authors: | Liang Wang Jinfu Lin Fu Xiong Yingyin Liang Huan Li Ziyu Liao Cheng Zhang |
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| Affiliation: | 1. Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology. Guangzhou, China;2. Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China;1. The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom;2. Department of Musculoskeletal Histopathology and the Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital NHS Trust, Oswestry, SY10 7AG, United Kingdom;3. Department of Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance NHS Group, Stott Lane, Salford M6 8HD, United Kingdom;4. The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom;5. The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health 30 Guildford Street, London, WC1N 1EH, United Kingdom;6. Atkinson-Morley Neuromuscular Centre, Department of Neurology, St George’s University Hospitals NHS Foundation Trust, London, SW17 0QT, United Kingdom;7. Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom;8. Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom;1. Department of Pathology, Vivantes Friedrichshain Hospital, Vivantes Hospital Group, Charité Academic Teaching Hospital, Berlin, Germany;2. Department of Neuropathology, Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117 Berlin, Germany;3. Private practice of Human Genetics, Berlin, Germany and Private practice of Human Genetics and Molecular Pathology, Rostock, Germany;4. Center for Prenatal Diagnosis-Friedrichstrasse, Berlin, Germany;5. Clinic for Obstetric Medicine and Center for Prenatal Medicine, Vivantes Neukölln Hospital, Vivantes Hospital Group, Charité Academic Teaching Hospital, Berlin, Germany;6. Department of Paediatrics, Vivantes Neukölln Hospital, Vivantes Hospital Group, Charité Academic Teaching Hospital, Berlin, Germany;7. Folkhälsan Research Center, Folkhälsan Institute of Genetics, Biomedicum, Helsinki, Finland;8. Department of Medical and Clinical Genetics, Biomedicum, University of Helsinki, Helsinki, Finland;9. Faculty of Biological and EnviroNEMental Sciences, Molecular and Integrative Biosciences Research Programme, University of Helsinki, Helsinki, Finland;10. Department of Neuropathology, Universitätsmedizin Mainz, Germany;11. Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany;12. Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität Munich, Munich, Germany;1. Neurology IV Unit, Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;2. Department of Neurology-Stroke Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy;3. Department of Neurosciences, Azienda Ospedaliero-Universitaria di Modena, Ospedale Civile di Baggiovara, Modena, Italy;4. Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, Brescia, Italy;5. Neurological Unit, Ospedale Civile di Macerata, Italy;6. Department of Neurosciences, Reproductive, and Odontostomatological Sciences, University Federico II, Naples, Italy;7. Neurological Clinic, University of Verona, Verona, Italy;8. Department of Neurosciences, University of Padova, Padova, Italy;9. Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy;10. Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, “Aldo Ravelli” Center for Neurotechnology and Experimental Brain Therapeutics, Università degli Studi di Milano, Milan, Italy;11. DIBINEM-Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy;12. Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy;13. Neuromuscular Pediatric Unit, IRRCS Istituto delle Scienze Neurologiche di Bologna;14. Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;15. Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy;p. Department of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", Bari, Italy;q. Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari "Aldo Moro", Bari, Italy;1. Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India;2. Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India;3. Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kerala, India;4. Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India;5. Department of Pediatrics, King Edward Memorial Hospital, Mumbai, India;6. Department of Clinical Genetics, Centre for Human Genetics, Bangalore, India;7. Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India;8. Medical Director, Sanofi Genzyme, India;9. Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA;1. School of Biology, College of Science, University of Tehran, Tehran, Iran;2. Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran;3. Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran;4. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;5. UCLA School of Public Health, Los Angeles, CA, United States;6. Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran;1. Department of Cardiology, University Children''s Hospital, Belgrade 11000, Serbia;2. Faculty of Medicine, University of Belgrade, Belgrade 11000, Serbia;3. Clinic of Neurology and Psychiatry for Children and Youth, Belgrade 11000, Serbia;4. Special hospital for cerebrovascular diseases “Saint Sava”, Belgrade 11000, Serbia;5. Institute of Epidemiology, Belgrade 11000, Serbia;6. Department of Radiology, University Children''s Hospital, Belgrade 11000, Serbia;7. Department of Endocrinology, University Children''s Hospital, Belgrade 11000, Serbia;8. Department of Medical Genetics, University Children''s Hospital, Belgrade 11000, Serbia |
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| Abstract: | Twins with Duchenne muscular dystrophy (DMD) have been widely studied. We report the first rare case of monozygotic triplets with DMD who shared consistent phenotypes, including delayed motor and language milestones, muscle wasting and weakness, joint contracture, and lumbar lordosis. Muscle magnetic resonance imaging and biopsy revealed the similar muscle injury characteristics and dystrophin absence. Short tandem repeat analysis confirmed monozygosity. A de novo mutation (exon 49–52 deletion) was found in the triplets but not in their mother. Treatment included prednisone, idebenone, and rehabilitation management. At the 2-year follow-up, motor function had deteriorated, and muscle fatty infiltration was more extensive and severe. Our case offers a unique opportunity for genetic and therapeutic research. Furthermore, it highlights the critical role of genetic factors in DMD phenotypes and provides a potential choice for treatment observations. |
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