Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre
Abstract Background Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes varies among patients from different eth...
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| Format: | Article |
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BMC
2022-01-01
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| Series: | BMC Pediatrics |
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| Online Access: | https://doi.org/10.1186/s12887-021-03024-0 |
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| author | Yu Zhang Hui Yan Jieyu Liu Huifang Yan Yinan Ma Cuijie Wei Zhaoxia Wang Hui Xiong Xingzhi Chang |
| author_facet | Yu Zhang Hui Yan Jieyu Liu Huifang Yan Yinan Ma Cuijie Wei Zhaoxia Wang Hui Xiong Xingzhi Chang |
| author_sort | Yu Zhang |
| collection | DOAJ |
| description | Abstract Background Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes varies among patients from different ethnic groups. The aim of the present study was to characterize congenital myopathies with infancy onset among patients registered at our institution. Method This retrospective study enrolled 56 patients based on the pathological and/or genetic diagnosis. Clinical, histopathological and genetic features of the patients were analysed with long-term follow-up. Results Twenty-six out of 43 patients who received next-generation sequencing had genetic confirmation, and RYR1 variations (12/26) were the most prevalent. Eighteen novel variations were identified in 6 disease-causing genes, including RYR1, NEB, TTN, TNNT1, DNM2 and ACTA1. Nemaline myopathy (17/55) was the most common histopathology. The onset ages ranged from birth to 1 year. Thirty-one patients were followed for 3.83 ± 3.05 years (ranging from 3 months to 11 years). No patient died before 1 year. Two patients died at 5 years and 8 years respectively. The motor abilities were stable or improved in 23 patients and deteriorated in 6 patients. Ten (10/31) patients developed respiratory involvement, and 9 patients (9/31) had mildly abnormal electrocardiograms and/or echocardiograms. Conclusion The severity of congenital myopathies in the neonatal/infantile period may vary in patients from different ethnic groups. More concern should be given to cardiac monitoring in patients with congenital myopathies even in those with static courses. |
| first_indexed | 2024-12-24T19:03:59Z |
| format | Article |
| id | doaj.art-18c61635d4ab41f2b8a8be123fbb3018 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-12-24T19:03:59Z |
| publishDate | 2022-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-18c61635d4ab41f2b8a8be123fbb30182022-12-21T16:43:09ZengBMCBMC Pediatrics1471-24312022-01-0122111310.1186/s12887-021-03024-0Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centreYu Zhang0Hui Yan1Jieyu Liu2Huifang Yan3Yinan Ma4Cuijie Wei5Zhaoxia Wang6Hui Xiong7Xingzhi Chang8Department of Paediatrics, Peking University First HospitalDepartment of Paediatrics, Peking University First HospitalDepartment of Paediatrics, Peking University First HospitalDepartment of Paediatrics, Peking University First HospitalDepartment of Central Laboratory, Peking University First HospitalDepartment of Paediatrics, Peking University First HospitalDepartment of Neurology, Peking University First HospitalDepartment of Paediatrics, Peking University First HospitalDepartment of Paediatrics, Peking University First HospitalAbstract Background Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes varies among patients from different ethnic groups. The aim of the present study was to characterize congenital myopathies with infancy onset among patients registered at our institution. Method This retrospective study enrolled 56 patients based on the pathological and/or genetic diagnosis. Clinical, histopathological and genetic features of the patients were analysed with long-term follow-up. Results Twenty-six out of 43 patients who received next-generation sequencing had genetic confirmation, and RYR1 variations (12/26) were the most prevalent. Eighteen novel variations were identified in 6 disease-causing genes, including RYR1, NEB, TTN, TNNT1, DNM2 and ACTA1. Nemaline myopathy (17/55) was the most common histopathology. The onset ages ranged from birth to 1 year. Thirty-one patients were followed for 3.83 ± 3.05 years (ranging from 3 months to 11 years). No patient died before 1 year. Two patients died at 5 years and 8 years respectively. The motor abilities were stable or improved in 23 patients and deteriorated in 6 patients. Ten (10/31) patients developed respiratory involvement, and 9 patients (9/31) had mildly abnormal electrocardiograms and/or echocardiograms. Conclusion The severity of congenital myopathies in the neonatal/infantile period may vary in patients from different ethnic groups. More concern should be given to cardiac monitoring in patients with congenital myopathies even in those with static courses.https://doi.org/10.1186/s12887-021-03024-0Congenital myopathyGeneticsInfancy onsetFollow-upMuscle biopsy |
| spellingShingle | Yu Zhang Hui Yan Jieyu Liu Huifang Yan Yinan Ma Cuijie Wei Zhaoxia Wang Hui Xiong Xingzhi Chang Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre BMC Pediatrics Congenital myopathy Genetics Infancy onset Follow-up Muscle biopsy |
| title | Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre |
| title_full | Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre |
| title_fullStr | Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre |
| title_full_unstemmed | Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre |
| title_short | Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre |
| title_sort | clinical and genetic features of infancy onset congenital myopathies from a chinese paediatric centre |
| topic | Congenital myopathy Genetics Infancy onset Follow-up Muscle biopsy |
| url | https://doi.org/10.1186/s12887-021-03024-0 |
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