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

Abstract

<b><i>Introduction:</i></b> 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. <b><i>Methods:</i></b> 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 <i>Q</i> statistic and the <i>I</i><sup>2</sup> statistic. <b><i>Results:</i></b> 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. <b><i>Conclusion:</i></b> 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.

Physical activities and risk of neurodegenerative diseases: A two-sample Mendelian randomization study

“…statistic was calculated to measure heterogeneity which is widely used (Huang et al, 2021;Liao et al, 2022b). A large Q statistic value indicates that the effect of individual PA phenotype-associated SNPs on outcomes enjoys a relatively large difference, which suggests the existence of heterogeneity and that the findings should be cautiously interpreted.…”

Diagnosis and Management of Myotonic Dystrophy Type 1

“…A recent genetic prevalence study of 50 382 consecutive births from the New York state newborn screening program estimated prevalence to be approximately 1:2100 individuals . This estimate is substantially higher than previously reported global estimates, which ranged from 5 to 20 per 100 000 individuals . Additional prevalence studies are needed with representative populations in other regions of the world.…”

Neurocognitive disorder in Myotonic dystrophy type 1

“…Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited progressive multisystemic disorder caused by an unstable CTG trinucleotide repeat expansion in the non-coding region of the DM1 protein kinase (DMPK) gene on chromosome 19 [ 1 ]. The disease is the most common form of adult-onset muscular dystrophy with a worldwide prevalence of 9.27/100,000 [ 2 ]. Muscular weakness is a characteristic symptom, but DM1 is also associated with ocular, cardiac, endocrine, gastrointestinal, and central nervous system impairments [ 3 ].…”