The most severe form of LMNA-associated congenital muscular dystrophy |
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Institution: | 1. Division of Neurology, National Center for Child Health and Development (NCCHD), 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan;2. Department of General Pediatrics and Interdisciplinary Medicine, NCCHD, Tokyo, Japan;3. Division of Cardiology, NCCHD, Tokyo, Japan;4. Department of Pediatrics, Shimada Ryoiku Medical Center for Challenged Children, 1-31-1 Nakazawa, Tama City, Tokyo 206-0036, Japan |
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Abstract: | Alterations in the LMNA gene cause a wide spectrum of diseases collectively called laminopathies. LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes infantile onset of muscle weakness, predominantly in the cervical-axial muscles, and motor developmental retardation. Cardiac symptoms during the first decade of life are rare. We report a case of LMNA-associated congenital muscular dystrophy in which the patient did not achieve head control and experienced facial muscle weakness. Cardiac dysrhythmias were observed at 5 years with development of dilated cardiomyopathy and ischemic strokes at 7 years. Despite intensive medical intervention, he died suddenly at 9 years. This report broadens the spectrum of phenotypes of this disorder with the most severe symptoms during the first decade of life. Our case underscores the need for early genetic testing for LMNA in patients with congenital muscular dystrophy to screen for cardiac manifestations and intervene as necessary. |
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Keywords: | LMNA Laminopathies Congenital muscular dystrophy Congenital diaphragmatic eventration Cardiomyopathy Cardiac dysrhythmias |
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