Characteristics of myotonic dystrophy patients in the national registry of Japan

M, Sugimoto; Kuru, Satoshi; Takada, Hiroto; Horie, Riho; Yamauchi, Kosuke; Kubota, Tomoya; Matsumura, Tsuyoshi; Nakamura, Harumasa; Kimura, En; Takahashi, Masanori

doi:10.1016/j.jns.2021.120080

Cited by 5 publications

(9 citation statements)

References 46 publications

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“…The epidemiological characteristics of DM2 remain ambiguous, and related studies are lacking all over the world. Multicenter patient registry, integrated information gathering, and regular follow-ups are essential and will allow a large number of patients to be collected, which would provide prevalence information and other valuable data for global health policy-making and clinical drug development, thereby benefitting these patients [15, 49, 50].…”

Section: Discussionmentioning

confidence: 99%

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Liao

Zhang

et al. 2022

Neuroepidemiology

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Introduction: Myotonic dystrophy (DM), the most common muscular dystrophy in adults, is a group of autosomal inherited neuromuscular disorders characterized by progressive muscle weakness, myotonia, and cardiac conduction abnormalities. Due to the different gene mutations, DM has been subclassified into DM type 1 (DM1) and type 2 (DM2). However, the prevalence studies on DM and its subtypes are insufficient. Methods: The PubMed (1966–2022), MEDLINE (1950–2022), Web of Science (1864–2022), and Cochrane Library (2022) databases were searched for original research articles published in English. The quality of the included studies was assessed by a checklist adapted from Strengthening the Reporting of Observational studies in Epidemiology. 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 and the I2 statistic. Results: A total of 17 studies were included in the systematic review and meta-analysis. Of the 17 studies evaluated, 14 studies were considered medium quality, 2 studies were considered high quality, and 1 study was considered low quality. The global prevalence of DM varied widely from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM was 9.99 cases (95% CI: 5.62–15.53) per 100,000. The pooled estimate of the prevalence of DM1 was 9.27 cases (95% CI: 4.73–15.21) per 100,000, ranging from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM2 was 2.29 cases (95% CI: 0.17–6.53) per 100,000, ranging from 0.00 to 24.00 cases per 100,000. Conclusion: Our study provided accurate estimates of the prevalence of DM. 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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Section: Discussionmentioning

confidence: 99%

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Liao

Zhang

et al. 2022

Neuroepidemiology

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“…Geographically, large-scale population-based studies have been reported in Asia [ 27 , 28 , 29 , 30 ], Europe [ 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 ], North America [ 41 ], and Oceania [ 42 ]. Previous studies have reported that the incidence of DM1 is different in various ethnicities [ 43 , 44 , 45 ].…”

Section: Discussionmentioning

confidence: 99%

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

Han

Jang

Park

2022

Genes

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Myotonic dystrophy type 1 (DM1) is the most common autosomal-dominant disorder caused by the CTG repeat expansion of the DMPK, and it has been categorized into three phenotypes: mild, classic, and congenital DM1. Here, we reviewed the intergenerational influence of gender and phenotype of the transmitting parent on the occurrence of Korean DM1. A total of 44 parent–child pairs matched for the gender of the transmitting parent and the affected child and 29 parent–child pairs matched for the gender and DM1 phenotype of the transmitting parent were reviewed. The CTG repeat size of the DMPK in the affected child was found to be significantly greater when transmitted by a female parent to a female child (DM1-FF) (median, 1309 repeats; range, 400–2083) than when transmitted by a male parent to a male child (650; 160–1030; p = 0.038 and 0.048 using the Tukey HSD and the Bonferroni test) or by a male parent to a female child (480; 94–1140; p = 0.003). The difference in the CTG repeat size of the DMPK between the transmitting parent and the affected child was also lower when transmitted from a male parent with classic DM1 (−235; −280 to 0) compared to when it was transmitted from a female parent with mild DM1 (866; 612–905; p = 0.015 and 0.019) or from a female parent with classic DM1 (DM1-FC) (605; 10–1393; p = 0.005). This study highlights that gender and the DM1 phenotype of the transmitting parent had an impact on the CTG repeat size of the DMPK in the affected child, with greater increases being inherited from the DM1-FF or DM1-FC situations in Korean DM1.

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“…As reported in a previous study, a nationwide registry for patients with DM was established after review and approval of the ethics committees of the Osaka University Hospital and National Center of Neurology and Psychiatry 16 . We obtained written informed consent from all study participants.…”

Section: Methodsmentioning

confidence: 99%

“…Remudy data have been reported in previous work 16 . Although Remudy is a patient‐initiated registry, genetic information, laboratory data, and treatments are verified by attending physicians to ensure the accuracy of the data 16 …”

Section: Methodsmentioning

confidence: 99%

“…Disease registries have been used successfully to characterize the current care for DM patients worldwide 12–14 . In Japan, the Registry of Muscular Dystrophy (Remudy) is a national registry for various neuromuscular diseases 15,16 . In 2014, DM was registered as a disease in Remudy, and there are currently over 1,000 registered patients.…”

Section: Introductionmentioning

confidence: 99%

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The current status of medical care for myotonic dystrophy type 1 in the national registry of Japan

et al. 2023

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Introduction/Aims Myotonic dystrophy (DM) is a systemic disease with multiple organ complications, making the standardization of medical care a challenge. We analyzed data from Japan's national registry to clarify the current treatment patterns and demographic features of Japanese DM patients. Methods Using the Japanese National Registry of Muscular Dystrophy (Remudy), we analyzed medical care practice for the multisystemic issues associated with adult DM type 1 patients, excluding congenital DM. Results We included 809 patients with a median age of 44.2 years. Among these patients, 15.8% used ventilators; 31.7% met the index considered at risk for sudden death due to cardiac conduction defects (PR interval over 240 milliseconds or QRS duration over 120 milliseconds) and 2.8% had implanted cardiac devices. Medication for heart failure was prescribed to 9.6% of patients. Overall, 21.2% of patients had abnormal glucose metabolism, of whom 42.9% were treated with oral medications. Among the oral medications, dipeptidyl peptidase‐4 inhibitors were the most common. Cancers were observed in 3.7% of the patients, and endometrial and breast cancers were dominant. Mexiletine was prescribed for myotonia in 1.9% of the patients, and only 1% of the patients received medication for daytime sleepiness. Discussion This study shows difference in treatment patterns for DM1 in Japan compared with other countries, such as lower rates of use of implantable cardiac devices and higher rates of ventilator use. These data may be useful in discussions aimed at standardizing medical care for patients with DM.

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Characteristics of myotonic dystrophy patients in the national registry of Japan

Cited by 5 publications

References 46 publications

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1

The current status of medical care for myotonic dystrophy type 1 in the national registry of Japan

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