LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C. The disease is characterized by slowly progressing weakness of the scapular-brachial and pelvic-peroneal muscle groups, myodystrophy, primary joint...
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| Format: | Article |
| Language: | Russian |
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SINAPS LLC
2024-10-01
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| Series: | Архивъ внутренней медицины |
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| Online Access: | https://www.medarhive.ru/jour/article/view/1854 |
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| author | E. V. Resnik A. A. Kovaleva M. Kh. Shurdumova D. E. Emelyanovich A. P. Smirnov V. Y. Voinova |
| author_facet | E. V. Resnik A. A. Kovaleva M. Kh. Shurdumova D. E. Emelyanovich A. P. Smirnov V. Y. Voinova |
| author_sort | E. V. Resnik |
| collection | DOAJ |
| description | Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C. The disease is characterized by slowly progressing weakness of the scapular-brachial and pelvic-peroneal muscle groups, myodystrophy, primary joint contracture and cardiomyopathy with rhythm disorders and conduction abnormalities. Cardiovascular complications and life-threatening arrhythmias are the main cause of death in such patients at a young age. Depending on the leading symptoms and family history, patients are under the care of different specialists. Unfortunately, neurologists, cardiologists, cardio surgeons and orthopedics are not well informed about this rare condition and thus the disease tends to be not diagnosed in time. This article examines the data of epidemiology, pathophysiology, features of the course, diagnosis, approaches to the management of cardiovascular pathology in progressive Emery-Dreyfus muscular dystrophy with the development of LMNA cardiomyopathy. A clinical case of this disease is also given. |
| format | Article |
| id | doaj-art-af07933353124e52bb3a34efdb82b2e1 |
| institution | Kabale University |
| issn | 2226-6704 2411-6564 |
| language | Russian |
| publishDate | 2024-10-01 |
| publisher | SINAPS LLC |
| record_format | Article |
| series | Архивъ внутренней медицины |
| spelling | doaj-art-af07933353124e52bb3a34efdb82b2e12025-08-20T04:00:03ZrusSINAPS LLCАрхивъ внутренней медицины2226-67042411-65642024-10-0114538139310.20514/2226-6704-2024-14-5-381-3931013LMNA-Cardiomyopathy in Emery-Dreifuss Muscular DystrophyE. V. Resnik0A. A. Kovaleva1M. Kh. Shurdumova2D. E. Emelyanovich3A. P. Smirnov4V. Y. Voinova5Pirogov Russian National Research Medical University; City Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of MoscowPirogov Russian National Research Medical University; City Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of MoscowPirogov Russian National Research Medical University; City Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of MoscowCity Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of MoscowPirogov Russian National Research Medical University; City Polyclinic № 212 of the Department of Health of the City of MoscowPirogov Russian National Research Medical UniversityEmery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C. The disease is characterized by slowly progressing weakness of the scapular-brachial and pelvic-peroneal muscle groups, myodystrophy, primary joint contracture and cardiomyopathy with rhythm disorders and conduction abnormalities. Cardiovascular complications and life-threatening arrhythmias are the main cause of death in such patients at a young age. Depending on the leading symptoms and family history, patients are under the care of different specialists. Unfortunately, neurologists, cardiologists, cardio surgeons and orthopedics are not well informed about this rare condition and thus the disease tends to be not diagnosed in time. This article examines the data of epidemiology, pathophysiology, features of the course, diagnosis, approaches to the management of cardiovascular pathology in progressive Emery-Dreyfus muscular dystrophy with the development of LMNA cardiomyopathy. A clinical case of this disease is also given.https://www.medarhive.ru/jour/article/view/1854emery-dreifusscardiomyopathylaminopathylmnamuscular dystrophy |
| spellingShingle | E. V. Resnik A. A. Kovaleva M. Kh. Shurdumova D. E. Emelyanovich A. P. Smirnov V. Y. Voinova LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy Архивъ внутренней медицины emery-dreifuss cardiomyopathy laminopathy lmna muscular dystrophy |
| title | LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy |
| title_full | LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy |
| title_fullStr | LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy |
| title_full_unstemmed | LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy |
| title_short | LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy |
| title_sort | lmna cardiomyopathy in emery dreifuss muscular dystrophy |
| topic | emery-dreifuss cardiomyopathy laminopathy lmna muscular dystrophy |
| url | https://www.medarhive.ru/jour/article/view/1854 |
| work_keys_str_mv | AT evresnik lmnacardiomyopathyinemerydreifussmusculardystrophy AT aakovaleva lmnacardiomyopathyinemerydreifussmusculardystrophy AT mkhshurdumova lmnacardiomyopathyinemerydreifussmusculardystrophy AT deemelyanovich lmnacardiomyopathyinemerydreifussmusculardystrophy AT apsmirnov lmnacardiomyopathyinemerydreifussmusculardystrophy AT vyvoinova lmnacardiomyopathyinemerydreifussmusculardystrophy |