Myotonic Dystrophy Type 2 – Data from the Serbian Registry

Božović, Ivo; Perić, Stojan; Pešović, Jovan; Bjelica, Bogdan; Brkušanin, Miloš; Basta, Ivana; Božić, Marija; Senćanić, Ivan; Marjanovic, Ana; Branković, Marija; Savić‐Pavićević, Dušanka; Rakočević-Stojanović, Vidosava

doi:10.3233/jnd-180328

Cited by 14 publications

(15 citation statements)

References 28 publications

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“…Data were collected from Akhenaten , the Serbian registry for myotonic dystrophies, founded in 2008 ( 8 ). The formation of the registry was approved by the Ethics Committee of the Faculty of Medicine, University of Belgrade.…”

Section: Methodsmentioning

confidence: 99%

Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

et al. 2022

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IntroductionMyotonic dystrophy type 2 (DM2) is a rare autosomal dominant multisystemic disease with highly variable clinical presentation. Several case reports and one cohort study suggested a significant association between DM2 and autoimmune diseases (AIDs).AimThe aim of this study is to analyze the frequency and type of AIDs in patients with DM2 from the Serbian DM registry.Patients and MethodsA total of 131 patients with DM2 from 108 families were included, [62.6% women, mean age at DM2 onset 40.4 (with standard deviation 13) years, age at entering the registry 52 (12.8) years, and age at analysis 58.4 (12.8) years]. Data were obtained from Akhenaten, the Serbian registry for DM, and through the hospital electronic data system.ResultsUpon entering the registry, 35 (26.7%) of the 131 patients with DM2 had AIDs including Hashimoto thyroiditis (18.1%), rheumatoid arthritis, diabetes mellitus type 1, systemic lupus, Sjogren's disease, localized scleroderma, psoriasis, celiac disease, Graves's disease, neuromyelitis optica, myasthenia gravis, and Guillain-Barre syndrome. At the time of data analysis, one additional patient developed new AIDs, so eventually, 36 (28.8%) of 125 DM2 survivors had AIDs. Antinuclear antibodies (ANAs) were found in 14 (10.7%) of 63 tested patients, including 12 without defined corresponding AID (all in low titers, 1:40 to 1:160). Antineutrophil cytoplasmic antibodies (ANCAs) were negative in all 50 tested cases. The percentage of women was significantly higher among patients with AIDs (82.9% vs. 55.2%, p <0.01).ConclusionAIDs were present in as high as 30% of the patients with DM2. Thus, screening for AIDs in DM2 seems reasonable. Presence of AIDs and/or ANAs may lead to under-diagnosis of DM2.

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Section: Methodsmentioning

confidence: 99%

Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

et al. 2022

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“…Geographically, 13 studies were conducted in European regions, and 4 studies were conducted on other continents (3 studies in Asia and 1 study in Oceania). Among these 17 studies, 4 studies involved prevalence information on both DM1 and DM2 [4,15,25,26], 10 studies only mentioned DM1 [3,24,[27][28][29][30][31][32][33][34], 1 study only mentioned DM2 [35], and 2 studies did not provide enough information to determine DM subtype [36,37].…”

Section: Study Identification and Characteristicsmentioning

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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“…The main clinical feature of DM1 is myotonia (sustained muscle contractions) at the skeletal muscle level, progressive weakening of the distal muscles, and also affects other organ systems (e.g., eyes, heart, lungs) ( Table 1) [1,4,18]. Additionally, other multisystem characteristics are observed namely, insulin resistance, dyslipidemia, defects in cardiac conduction, gonodal atrophy, alterations in the central nervous system (CNS), and breathing problems (Table 1) [1,2,20]. DM1 is caused by the expansion of unstable repetitions of CTG in the 3'UTR DMPK gene ( Figure S1).…”

Section: Epidemiology and Molecular Characteristics Of Dm1mentioning

confidence: 99%

“…Table 1. Summary of principal clinical features of DM1 [1,2,7,15,16,19]. Present The number of CTG repeats in the DMPK gene is polymorphic and is correlated with the severity of DM1.…”

Section: Epidemiology and Molecular Characteristics Of Dm1mentioning

confidence: 99%

“…Myotonic dystrophy type 1 (DM1) is a multisystemic and autosomal dominant hereditary disease mainly characterized by progressive distal muscle weakness and myotonia (sustained muscle contractions) [1][2][3][4][5]. DM1 is caused by the expansion of unstable repetitions of cytosine-thymine-guanine trinucleotide (CTG) in the 3' untranslated region (3'UTR) of the Myotonic Dystrophy Protein Kinase (DMPK) gene located at chromosome 19q13.3 [4,6,7].…”

Section: Introductionmentioning

confidence: 99%

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Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin

Mateus

Martins

Nunes

et al. 2021

IJERPH

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Myotonic dystrophy type 1 (DM1) is an autosomal dominant hereditary and multisystemic disease, characterized by progressive distal muscle weakness and myotonia. Despite huge efforts, the pathophysiological mechanisms underlying DM1 remain elusive. In this review, the metabolic alterations observed in patients with DM1 and their connection with lipin proteins are discussed. We start by briefly describing the epidemiology, the physiopathological and systemic features of DM1. The molecular mechanisms proposed for DM1 are explored and summarized. An overview of metabolic syndrome, dyslipidemia, and the summary of metabolic alterations observed in patients with DM1 are presented. Patients with DM1 present clinical evidence of metabolic alterations, namely increased levels of triacylglycerol and low-density lipoprotein, increased insulin and glucose levels, increased abdominal obesity, and low levels of high-density lipoprotein. These metabolic alterations may be associated with lipins, which are phosphatidate phosphatase enzymes that regulates the triacylglycerol levels, phospholipids, lipid signaling pathways, and are transcriptional co-activators. Furthermore, lipins are also important for autophagy, inflammasome activation and lipoproteins synthesis. We demonstrate the association of lipin with the metabolic alterations in patients with DM1, which supports further clinical studies and a proper exploration of lipin proteins as therapeutic targets for metabolic syndrome, which is important for controlling many diseases including DM1.

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Myotonic Dystrophy Type 2 – Data from the Serbian Registry

Abstract: This registry offers a spectrum of different features presented in Serbian DM2 population, which could be at service of earlier diagnosis and better treatment.

Cited by 14 publications

References 28 publications

Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2

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

Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin

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