Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients |
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| Affiliation: | 1. Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy;2. Radiology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy;3. Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy;4. Clinical Psychology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy;5. Physical Medicine and Rehabilitation Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy;6. Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy;7. Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy;8. Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health – DINOGMI, University of Genova, Genova, Italy;1. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan;2. Department of Pediatrics, School of Medicine, Iwate Medical University, Iwate, Japan;3. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;4. Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan;5. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan;1. Department of Pediatrics, National Hospital Organization Ureshino Medical Center, Ureshino, Saga, Japan;2. Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan;3. Department of Neurosurgery, Faculty of Medicine, Saga University, Saga, Japan;1. Faculty of Medicine, Vilnius University, Vilnius, Lithuania;2. Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania;1. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan;2. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan;3. Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Japan;4. Center for Medical Education, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Japan;5. Division of Neurology, Department of Internal Medicine, St. Marianna University School of Medicine, Japan;6. Department of Neurosurgery, National Center Hospital, National Center of Neurology and Psychiatry, Japan;7. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan;8. Department of Laboratory Medicine, St. Marianna University, School of Medicine, Japan;9. Forefront Research Center, Graduate School of Science, Osaka University, Japan |
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| Abstract: | IntroductionPOMT2-related limb girdle muscular dystrophy (LGMDR14) is a rare muscular dystrophy caused by mutations in the POMT2 gene. Thus far only 26 LGMDR14 subjects have been reported and no longitudinal natural history data are available.Case reportWe describe two LGMDR14 patients followed for 20 years since infancy. Both patients presented a childhood-onset, slowly progressive pelvic girdle muscular weakness leading to loss of ambulation in the second decade in one patient, and cognitive impairment without detectable brain structural abnormalities. Glutei, paraspinal, and adductor muscles were the primarily involved muscles at MRI.DiscussionThis report provides natural history data on LGMDR14 subjects, with a focus on longitudinal muscle MRI. We also reviewed the LGMDR14 literature data, providing information on the LGMDR14 disease progression. Considering the high prevalence of cognitive impairment in LGMDR14 patients, a reliable application of functional outcome measures can be challenging, therefore a muscle MRI follow-up to assess disease evolution is recommended. |
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| Keywords: | Limb girdle muscular dystrophy LGMDR14 POMT2 gene Muscle MRI |
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