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Introduction/Aims Due to muscular weakness and cardiopulmonary dysfunction, patients with muscular dystrophy (MD) have an increased risk of serious complications from coronavirus disease 2019 (COVID-19). Although vaccination is recommended, COVID-19 vaccination safety and immunogenicity in these patients are unknown. We investigated reaction frequency, post-vaccine antibody titers after two mRNA COVID-19 vaccine doses, and clinical predictors of antibody response among patients with MD.We recruited 171 inpatients with MD receiving two BNT162b2 mRNA COVID-19 vaccine doses from seven hospitals. Blood samples were obtained from 53 inpatients before the first dose and 28-30 days after the second dose, and antibody titers were measured.Overall, 104 (60.8%) and 115 (67.6%) patients experienced side effects after the first and second doses, respectively. These were generally mild and self-limited. Multiple logistic regression analysis showed that a bedridden state was associated with reduced side effects (OR: 0.29, 95% CI: 0.12-0.71). The antibody titers of all participants changed from negative to positive after two vaccine doses. The geometric mean titer (GMT) of the inpatients was 239 (95% CI: 159.3-358.7). Older age (RR=0.97, 95% CI: 0.95-0.99) and bedridden state (RR=0.27, 95% CI: 0.14-0.51) were associated with a lower antibody titer. Patients with myotonic dystrophy type 1 (DM1) had a lower GMT than patients with other MDs (RR=0.42, 95% CI: 0.21-0.85).COVID-19 vaccination is safe and immunogenic in inpatients with MD. Patients with DM1 appear to have a poorer COVID-19 antibody response than those with other MDs. This article is protected by copyright. All rights reserved.

To reveal current status of medical practice, we made a nationwide self-questionnaire survey to Japanese certified Neurologists and Child Neurologists. Most specialists seeing patients with myotonic dystrophy (DM) were aware that genetic analysis is approved in health insurance. The ratio of pre-explanation about genetic analysis was also high however written informed consent was not always obtained. Over 60% of specialists regarded motor dysfunction, conduction block/arrhythmia, heart failure, dysphagia, hypoventilation as important complications, while no more than 35% of specialists regarded hypoxia/apnea, multi-organ complications, which are feature of myotonic dystrophy, as important. Over half specialists did not check Holter electrocardiogram, sleep respiratory examination, or swallowing function regularly. This fact implied that cumbersome examinations tended to be refrained from regular assessment. Child neurologists were more aggressive in respiratory care and consultation of cardiovascular specialists. A few neurologists hesitated to introduce mechanical ventilation and tube feeding.

We conducted a comprehensive anonymous questionnaire survey on medical care and treatment for patients with myotonic dystrophy, who registered in the Japanese national registry (Remudy) or were undergoing care in seven hospitals specializing neuromuscular diseases. The questionnaire consisted of 49 questions were distributed to 813 patients, and 342 valid responses were collected. Most prevalent symptoms or complaints were dysfunction of fingers and fatigue. One-third of the adult patients left the job, half of which was due to the disease. Twelve percent of the patients did not visit the specialist regularly, the main reason being distance. The most common reason that the patients did not follow the advice of using a ventilator by medical professionals was lack of feeling the need. One-fourth of the adult female patients had infertility treatment, 80% of which was before a diagnosis of this disorder. This first-time nationwide survey revealed the actual condition of Japanese patients with myotonic dystrophy and raised various care-related issues.

To clarify the influence of coronavirus disease-19 (COVID-19) on the care of muscular dystrophy patients, we performed a questionnaire survey that was posted on the internet on May 11, 2020. By the end of July 2020, 542 responses had been collected. Approximately 30% of patients postponed regular consultations, and one-quarter of patients who received consultation more than once a month used telephone consultations. Two of 84 patients with Duchenne muscular dystrophy had reduced their steroid doses. A shortage of ventilator accessories and infection protection equipment occurred following the onset of COVID-19, and this shortage had a serious impact on medical care and infection prevention measures. Reductions in rehabilitation and other services, and avoidance of outings, led to a decrease in exercise and an increase in caregiver burden. Inpatients were restricted from going out and visiting family members. More than 20% of patients reported physical or mental complaints; however, few required treatment. COVID-19 has seriously affected the activities and quality of life of patients with muscular dystrophy. We will continue this survey and analyze the longitudinal changes.

Background Cerebral ventriculomegaly is an abnormal feature characteristic of myotonic dystrophy type 1 (DM1). This retrospective study investigated the morphologic changes accompanied by ventriculomegaly in DM1 on brain MRI. Methods One hundred and twelve adult patients with DM1 and 50 sex- and age-matched controls were assessed. The imaging characteristics for evaluations included the z-Evans Index (ventriculomegaly), callosal angle (CA), enlarged perivascular spaces in the centrum semiovale (CS-EPVS), temporo-polar white matter lesion (WML) on 3D fluid-attenuated inversion recovery (FLAIR), disproportionately enlarged subarachnoid-space hydrocephalus (DESH), and pathological brain atrophy. The “z-Evans Index” was defined as the maximum z-axial length of the frontal horns to the maximum cranial z-axial length. To determine the imaging characteristics and genetic information (CTG repeat numbers) that were associated with the z-Evans Index, we used binominal logistic regression analyses. Results The z-Evans Index was significantly larger in the patients than in the controls (0.30 ± 0.05 vs. 0.24 ± 0.02; p Conclusions Our MRI study revealed a normal pressure hydrocephalus (NPH)-like appearance as a morphologic finding accompanied by ventriculomegaly in DM1 that tends to occur in elderly patients.

BackgroundMyotonic dystrophy type 1 involves cardiac conduction disorders. Cardiac conduction disease can cause fatal arrhythmias or sudden death in patients with myotonic dystrophy type 1.Methods and ResultsThis study enrolled 506 patients with myotonic dystrophy type 1 (aged ≥15 years; >50 cytosine‐thymine‐guanine repeats) and was treated in 9 Japanese hospitals for neuromuscular diseases from January 2006 to August 2016. We investigated genetic and clinical backgrounds including health care, activities of daily living, dietary intake, cardiac involvement, and respiratory involvement during follow‐up. The cause of death or the occurrence of composite cardiac events (ie, ventricular arrhythmias, advanced atrioventricular blocks, and device implantations) were evaluated as significant outcomes. During a median follow‐up period of 87 months (Q1–Q3, 37–138 months), 71 patients expired. In the univariate analysis, pacemaker implantations (hazard ratio [HR], 4.35; 95% CI, 1.22–15.50) were associated with sudden death. In contrast, PQ interval ≥240 ms, QRS duration ≥120 ms, nutrition, or respiratory failure were not associated with the incidence of sudden death. The multivariable analysis revealed that a PQ interval ≥240 ms (HR, 2.79; 95% CI, 1.9–7.19,PP< 0.01) were independent factors associated with a higher occurrence of cardiac events than those observed with a PQ interval ConclusionsCardiac conduction disorders are independent markers associated with cardiac events. Further investigation on the prediction of occurrence of sudden death is warranted.

Makiko Endo,1 Kaori Odaira,2 Ryohei Ono,3 Go Kurauchi,4 Atsushi Koseki,5 Momoko Goto,3 Yumi Sato,4 Seiko Kon,6 Norio Watanabe,7 Norio Sugawara,8 Hiroto Takada,6 En Kimura9 1Clinical Research Unit, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; 2Regional Medical Liaison Office, National Hospital Organization, Aomori Hospital, Namioka, Aomori 038-1331, Japan; 3Section for Development and Disability Training, National Hospital Organization, Aomori Hospital, Namioka, Aomori 038-1331, Japan; 4Department of Rehabilitation, National Hospital Organization, Aomori Hospital, Namioka, Aomori 038-1331, Japan; 5Section for Development and Disability Training, National Hospital Organization, Hanamaki Hospital, Hanamaki, Iwate 025-0033, Japan; 6Department of Neurology, National Hospital Organization, Aomori Hospital, Namioka, Aomori 038-1331, Japan; 7School of Public Health, Graduate School of Medicine, Kyoto University, Sakyo-ku, Kyoto 606-8501, Japan; 8Department of Clinical Epidemiology, Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan; 9Department of Clinical Research Support, Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan Purpose: Myotonic dystrophy type 1 (DM1) is a common form of muscular dystrophy that presents with a variety of symptoms that can affect patients’ quality of life (QoL). Despite the importance of clarifying patients’ subjective experience in both physical and psychosocial aspects for improved symptom management, there is lack of evidence concerning QoL of patients with DM1 in Japan.Patients and methods: A cross-sectional study was performed with 51 DM1 patients who completed questionnaires that measured health-related QoL (HRQoL), depression, and daytime sleepiness. Activities of daily living, body mass index (BMI), and genetic information were also collected, together with general demographic information. Correlation analyses using these variables were performed. Furthermore, regression analysis was utilized to assess the relationship that HRQoL, depression, and daytime sleepiness scores have with other variables.Results: Physical component summary (PCS) score was affected by the disease more than the mental component summary (MCS) score among study participants. Moderate correlation was observed between PCS and depression, PCS and Barthel index, and depression and daytime sleepiness. Regression analysis revealed that age, sex, cytosine–thymine–guanine repeats, and BMI did not predict the aforementioned dependent variables.Conclusion: DM1 symptoms influenced physical component scores more than mental component scores, although the state of physical wellness seemed to affect patients’ mood. Explaining the QoL of these patients only using biologic and genetic characteristics was not sufficient. We conclude that social and psychological aspects of these patients’ lives and the nature of adjustments made by patients due to DM1 to require further examination in order to improve the standard of care. Keywords: depression, excessive daytime sleepiness, chronic illness, psychosocial perspective&nbsp

Background: Although functional impairment in patients with myotonic dystrophy is an important determinant of quality of life (QoL), it is possible that QoL could further be influenced by the subjective evaluation of symptoms. The aim of this study was to investigate the subjective symptom impact on the QoL, after controlling for functional impairment. Methods: Eligible patients with myotonic dystrophy type 1 (DM1) were recruited from four hospitals in Japan. Subjective symptom impact across four domains (muscle weakness, fatigue, pain, and myotonia) and overall QoL were evaluated using the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Functional impairment was assessed using the modified Rankin scale. Results: Eighty-six patients with DM1 were included in this study. On multiple regression analysis, a portion of the variance in the overall QoL was significantly accounted for by demographic variables and functional impairment (adjusted R2 = 0.32). In addition to these variables, subjective symptom impact (muscular weakness, fatigue, and myotonia) explained additional variance in the overall QoL (adjusted R2 = 0.80). Difficulties in activities of daily living and participation caused by each symptom consistently predicted overall QoL across three symptom domains (muscular weakness, fatigue, and myotonia). Conclusions: Subjective symptom impact needs to be considered, in addition to functional impairment, when evaluating the QoL of patients with DM1.

Insulin resistance is a characteristic feature of glucose intolerance in myotonic dystrophy type 1 (DM1). DM1 patients with dysglycaemia have liver insulin resistance as well as muscle insulin resistance, and also abnormality of insulin secretion. Insulin resistance in DM1 might result in multiple metabolic defects. Low level of fasting plasma glucose is a characteristic feature in the early stage of glucose intolerance in DM1, Early intervention against insulin resistance in DM1 is suggested because glucose intolerance could deteriorate in a certain degree of cases. Metformin treatment is useful to improve insulin resistance in DM1. Diabetic patients with DM1 usually show mild hyperglycemia. However, poorly controlled patients with hyperglycemic pattern tending to rise from morning to evening exist. Intensive insulin therapy might be necessary in such cases. We should pay attention to hypoglycemia due to hyperinsulinemia, pseudo improvement of glucose control according to exacerbated dysphagia, and acute aggravation caused by infections, at a bedside.