Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports

Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-analysis of the literature.Methods: The PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched for original research articles published in English prior to July 30, 2021. The quality of the included studies was assessed by a checklist adapted from STrengthening the Reporting of OBservational studies in Epidemiology (STROBE). To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random effects model. Heterogeneity was assessed using the Cochrane Q statistic as well as the I2 statistic.Results: A total of 11 studies were included in the systematic review and meta-analysis. Of the 11 studies included, 10 (90.9%) were considered medium-quality, one (9.1%) was considered low-quality, and no study was assessed as having a high overall quality. The pooled prevalence of congenital myopathy in the all-age population was 1.50 (95% CI, 0.93–2.06) per 100,000, while the prevalence in the child population was 2.73 (95% CI, 1.34–4.12) per 100,000. In the pediatric population, the prevalence among males was 2.92 (95% CI, −1.70 to 7.55) per 100,000, while the prevalence among females was 2.47 (95% CI, −1.67 to 6.61) per 100,000. The prevalence estimates of the all-age population per 100,000 were 0.20 (95% CI 0.10–0.35) for nemaline myopathy, 0.37 (95% CI 0.21–0.53) for core myopathy, 0.08 (95% CI −0.01 to 0.18) for centronuclear myopathy, 0.23 (95% CI 0.04–0.42) for congenital fiber-type disproportion myopathy, and 0.34 (95% CI, 0.24–0.44) for unspecified congenital myopathies. In addition, the prevalence estimates of the pediatric population per 100,000 were 0.22 (95% CI 0.03–0.40) for nemaline myopathy, 0.46 (95% CI 0.03–0.90) for core myopathy, 0.44 (95% CI 0.03–0.84) for centronuclear myopathy, 0.25 (95% CI −0.05 to 0.54) for congenital fiber-type disproportion myopathy, and 2.63 (95% CI 1.64–3.62) for unspecified congenital myopathies.Conclusions: Accurate estimates of the prevalence of congenital myopathy are fundamental to supporting public health decision-making. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher-quality studies on orphan diseases.

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“…The search strategy used was modified from previous study ( 16 ). The literature search was restricted to articles published in English.…”

Section: Methodsmentioning

confidence: 99%

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Huang

Yang

2021

Front. Neurol.

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“…28 Recently, NGS has become more widely available, leading to an increasing understanding not only of GNE myopathy-related mutations, but also of other myopathies. 29 At present, there is no effective therapy available for GNE myopathy. 30,31 Preclinical studies have identified that the use of oral monosaccharides reversed muscle hyposialylation in a GNE myopathy mouse model.…”

Section: Discussionmentioning

confidence: 99%

“… 28 Recently, NGS has become more widely available, leading to an increasing understanding not only of GNE myopathy‐related mutations, but also of other myopathies. 29 …”

Section: Discussionmentioning

confidence: 99%

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

Zhang

Duan

et al. 2021

J Cellular Molecular Medi

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GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder. Although GNE, which is the mutated gene responsible for the disease, is well known as the key enzyme in the biosynthesis pathway of sialic acid, the clinicopathological-genetic spectrum of GNE mutant patients is still unclear and expanding. This study presents ten unrelated patients with GNE myopathy, discovering five novel missense mutations. Clinical, electrophysiological, imaging, pathological and genetic data are presented in a retrospective manner. Interestingly, several patients in the cohort were found to have peripheral neuropathy and inflammatory cell infiltration in muscle biopsies, which have seldom been reported. This study, conducted by a neuromuscular centre in China, is the first attempt to highlight these abnormal clinicopathological features and associate them with genetic mutations in GNE myopathy.

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“…The Pearson chi-square (χ 2 ) test was used to compare the frequency distribution of categorical variables. The Mann-Whitney U test or Kruskal-Wallis test was used to compare the difference among different groups as previously used 13 . The statistical analysis was performed using the Statistical Package for Social Sciences (SPSS Inc., Chicago, IL, USA) Version 20.…”

Section: Methodsmentioning

confidence: 99%

Repositive RT-PCR test in discharged COVID-19 patients during medical isolation observation

Huang¹,

Li²,

Zhou³

et al. 2021

Int. J. Med. Sci.

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Objectives: The epidemiological and clinical characteristics of patients with coronavirus disease 2019 (COVID-19) have been researched. However, the prevalence of repositivity by real-time PCR for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remains unclear. Methods: A retrospective study was conducted involving 599 discharged patients with COVID-19 in a single medical centre. The clinical features of patients during their hospitalization and 14-day post-discharge quarantine were collected. Results: A total of 122 patients (20.4%) out of 599 patients retested positive after discharge. Specifically, 94 (15.7%) retested positive within 24 h of discharge, and another 28 patients (4.7%) were repositive on day 7 after discharge, although none showed any clinical symptomatic recurrence. Both repositives and non‑repositives have similar patterns of IgG and IgM. Notably, the length of hospitalization of non-repositive patients was longer than that of 24-h repositive patients and 7-day repositive patients. In addition, the length of hospitalization of 24-h repositive patients was shorter than that of 7-day repositive patients, indicating that the length of hospitalization was also a determinant of viral shedding. Conclusion: Our study provides further information for improving the management of recovered and discharged patients, and further studies should be performed to elucidate the infectiveness of individuals with prolonged or RNA repositivity.

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Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports

Cited by 18 publications

References 36 publications

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

Repositive RT-PCR test in discharged COVID-19 patients during medical isolation observation

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