Metabolic syndrome in myotonic dystrophy type 2

Vujnic, Milorad; Calic, Zeljka; Bucma, T.; Perić, Stojan; Pešović, Jovan; Basta, Ivana; Nikolić, Aleksandra; Kačar, Aleksandra; Savić‐Pavićević, Dušanka; Rakočević-Stojanović, Vidosava

doi:10.1016/j.jns.2017.08.2331

Cited by 6 publications

(8 citation statements)

References 29 publications

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“…Studies have shown that DM1 causes insulin resistance, specifically in muscle tissue 11 . Recently, the occurrence of diabetes has also been highlighted in DM2 12 . We showed that age‐related risk of diabetes is higher in DM2 than in DM1.…”

Section: Discussionmentioning

confidence: 65%

“…11 Recently, the occurrence of diabetes has also been highlighted in DM2. 12 We showed that age-related risk of diabetes is higher in DM2 than in DM1. We postulate that this may reflect the preferential involvement in DM2 of proximal muscles, which constitute a higher fraction of muscle mass than distal muscles, or possibly the greater involvement of liver, renal, adipose, or pancreatic tissue, causing extramuscular insulin resistance or deficient insulin secretion.…”

Section: Discussionmentioning

confidence: 79%

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Milestones of progression in myotonic dystrophy type 1 and type 2

et al. 2022

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Introduction/Aims: Disease progression in myotonic dystrophy (DM) is marked by milestone events when functional thresholds are crossed. DM type 2 (DM2) is considered less severe than DM type 1 (DM1), but it is unknown whether this applies uniformly to all features. We compared the age-dependent risk for milestone events in DM1 and DM2 and tested for associations with age of onset and sex.Methods: We studied a large cohort of adult participants in a national registry of DM1 and DM2. Using annual surveys from participants, we ascertained milestone events for motor involvement (use of cane, walker, ankle brace, wheelchair, or ventilatory device), systemic involvement (diabetes, pacemaker, cancer), loss of employment due to DM, and death.Results: Mean follow-up of registry participants (929 DM1 and 222 DM2 patients) was 7 years. Disability and motor milestones occurred at earlier ages in DM1 than in DM2. In contrast, the risk of diabetes was higher and tended to occur earlier in DM2 (hazard ratio [HR], 0.56; P ≤ .001). In DM1, the milestone events tended to occur earlier, and life expectancy was reduced, when symptoms began at younger ages. In DM1, men were at greater risk for disability (HR, 1.34; P ≤ .01), use of ankle braces (HR, 1.41; P = .02), and diabetes (HR, 2.2; P ≤ .0001), whereas women were at greater risk for needing walkers (HR, 0.68; P = .001) or malignancy (HR, 0.66; P ≤ .01).Discussion: Milestone events recorded through registries can be used to assess longterm impact of DM in large cohorts. Except for diabetes, the age-related risk of milestone events is greater in DM1 than in DM2.

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Section: Discussionmentioning

confidence: 65%

Section: Discussionmentioning

confidence: 79%

Milestones of progression in myotonic dystrophy type 1 and type 2

et al. 2022

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“…Diabetes mellitus, present in approximately one-third of DM2 patients [ 19 ] is, besides myopia, a leading cause of presenile cataracts [ 22 ]. Some studies also highlight the importance of the metabolic syndrome, present in more than half of DM2 patients [ 23 ], in early-onset cataracts development [ 24 ]. Nevertheless, the presence of presenile cataracts and diabetes mellitus/metabolic syndrome should guide physicians to search for subtle muscle symptoms to diagnose or exclude myotonic dystrophy.…”

Section: Discussionmentioning

confidence: 99%

Clinical score for early diagnosis of myotonic dystrophy type 2

et al. 2022

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Introduction Myotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is considered to be highly underdiagnosed. Objective The aim of this study was to determine which symptoms, signs, and diagnostic findings in patients referred to neurological outpatient units are the most indicative to arouse suspicion of DM2. We tried to make a useful and easy-to-administer clinical scoring system for early diagnosis of DM2-DM2 early diagnosis score (DM2-EDS). Patients and methods Two hundred ninety-one patients with a clinical suspicion of DM2 were included: 69 were genetically confirmed to have DM2, and 222 patients were DM2 negative. Relevant history, neurological, and paraclinical data were obtained from the electronic medical records. Results The following parameters appeared as significant predictors of DM2 diagnosis: cataracts (beta = 0.410, p < 0.001), myotonia on needle EMG (beta = 0.298, p < 0.001), hand tremor (beta = 0.211, p = 0.001), positive family history (beta = 0.171, p = 0.012), and calf hypertrophy (beta = 0.120, p = 0.043). In the final DM2-EDS, based on the beta values, symptoms were associated with the following values: cataracts (present 3.4, absent 0), myotonia (present 2.5, absent 0), tremor (present 1.7, absent 0), family history (positive 1.4, negative 0), and calf hypertrophy (present 1.0, absent 0). A cut-off value on DM2-EDS of 3.25 of maximum 10 points had a sensitivity of 84% and specificity of 81% to diagnose DM2. Conclusion Significant predictors of DM2 diagnosis in the neurology outpatient unit were identified. We made an easy-to-administer DM2-EDS score for early diagnosis of DM2.

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“…Unlike in normal individuals, however, these decrements in respiratory muscle function may result in more severe illness and acute on chronic respiratory failure in patients with DM1 [ 4 , 5 ]. Furthermore, DM1 is often accompanied by obesity, increased insulin resistance and cardiovascular disease; three major risk factors for severe COVID-19 [ 2 , 6 – 8 ]. Avoidant personality disorder is common in DM1 which may lead to less strict adherence to medical advice such as social distancing.…”

Section: Introductionmentioning

confidence: 99%

Myotonic dystrophy type 1 as a major risk factor for severe COVID-19?

et al. 2020

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The coronavirus disease 2019 (COVID-19) pandemic is challenging health care systems worldwide. People with myotonic dystrophy type 1 (DM1) represent a high-risk population during infectious disease outbreaks, little is known about the potential impact of COVID-19 on patients with DM1. We studied the clinical course of COVID-19 in three hospitalized patients with myotonic dystrophy type 1 or Steinert's disease, between April 1, 2020-April 30-2020. All three had advanced Steinert's disease receiving non-invasive nocturnal home ventilatory support. Two of them lived in a residential care centre. Two patients had a limited respiratory capacity, whereas one patient had a rather preserved functional capacity but more comorbidities. Two out of three patients were obese, none of them had diabetes mellitus. Two patients received hydroxychloroquine. Despite maximal supportive care with oxygen therapy, antibiotics, intensive respiratory physiotherapy and noninvasive positive pressure ventilation, all three patients eventually died due to COVID-19. Our case series of three patients with DM1 admitted for COVID-19 confirms that they are at high risk for severe disease and poor outcome. Clinical trials are needed to define best practices and determinants of outcomes in this unique population.

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Metabolic syndrome in myotonic dystrophy type 2

Cited by 6 publications

References 29 publications

Milestones of progression in myotonic dystrophy type 1 and type 2

Milestones of progression in myotonic dystrophy type 1 and type 2

Clinical score for early diagnosis of myotonic dystrophy type 2

Myotonic dystrophy type 1 as a major risk factor for severe COVID-19?

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