-
The Canadian Journal of Neurological... Jan 2016The muscular dystrophies are a heterogeneous group of genetic muscle diseases with variable distribution of weakness and mode of inheritance. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The muscular dystrophies are a heterogeneous group of genetic muscle diseases with variable distribution of weakness and mode of inheritance.
METHODS
We previously performed a systematic review of worldwide population-based studies on Duchenne and Becker muscular dystrophies; the current study focused on the epidemiology of other muscular dystrophies using Medline and EMBASE databases. Two reviewers independently reviewed all abstracts, full-text articles, and abstracted data from 1985 to 2011. Pooling of prevalence estimates was performed using random-effect models.
RESULTS
A total of 1104 abstracts and 167 full-text articles were reviewed. Thirty-one studies met all eligibility criteria and were included in the final analysis. The overall pooled prevalence of combined muscular dystrophies was 16.14 (confidence interval [CI], 11.21-23.23) per 100,000. The prevalence estimates per 100,000 were 8.26 (CI, 4.99-13.68) for myotonic dystrophy, 3.95 (CI, 2.89-5.40) for facioscapulohumeral dystrophy, 1.63 (CI, 0.94-2.81) for limb girdle muscular dystrophy, and 0.99 (CI, 0.62-1.57) for congenital muscular dystrophies.
CONCLUSIONS
The studies differed widely in their approaches to case ascertainment, and substantial gaps remain in the global estimates of many other types of muscular dystrophies. Additional epidemiological studies using standardized diagnostic criteria as well as multiple sources of case ascertainment will help address the economic impact and health care burden of muscular dystrophies worldwide.
Topics: Humans; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Facioscapulohumeral; Myotonic Dystrophy
PubMed: 26786644
DOI: 10.1017/cjn.2015.311 -
Journal of Infection in Developing... Feb 2023Steinert's disease is a rare genetic disorder characterized by progressive myotonia and multi-organ damage. It is associated with respiratory and cardiological... (Review)
Review
INTRODUCTION
Steinert's disease is a rare genetic disorder characterized by progressive myotonia and multi-organ damage. It is associated with respiratory and cardiological complications often leading patients to exitus. These conditions are also traditional risk factors for severe COVID-19. SARS-CoV-2 has affected people with chronic diseases, but the impact on people with Steinert's disease is poorly defined, with only a few reported and described. More data are needed to understand whether this genetic disease is a risk factor for more serious evolution or death in patients with COVID-19.
METHODOLOGY
The study describes two cases of patients with SD and COVID-19 and summarizes available evidence of the clinical outcome of COVID-19 in patients with Steinert's disease, by performing a systematic review of the literature (following PRISMA statements and performing PROSPERO registration).
RESULTS
Overall, 5 cases were retrieved from the literature review, with a median age of 47 years, of whom 4 had advanced SD and unfortunately died. By contrast, the 2 patients from our clinical practice and 1 from literature had a good clinical outcomes. Mortality ranged from 57% (all cases) to 80% (only literature review).
CONCLUSIONS
There is a high mortality rate in patients with both Steinert's disease and COVID-19. It highlights the importance of strengthening prevention strategies, especially vaccination. All SD with SARS-CoV-2 infection/COVID-19 patients should be identified early and treated to avoid complications. It is still unknown which treatment regimen is best to use in those patients. Studies on a greater number of patients are necessary to provide clinicians with further evidence.
Topics: Humans; Middle Aged; Myotonic Dystrophy; COVID-19; SARS-CoV-2
PubMed: 36897899
DOI: 10.3855/jidc.15653 -
Cortex; a Journal Devoted To the Study... Oct 2017To examine the cognitive profile of patients with myotonic dystrophy type 1 (DM1) on the basis of a systematic review and meta-analysis of the literature. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To examine the cognitive profile of patients with myotonic dystrophy type 1 (DM1) on the basis of a systematic review and meta-analysis of the literature.
METHODS
Embase, Medline and PsycInfo were searched for studies reporting ≥1 neuropsychological test in both DM1 patients and healthy controls. Search, data extraction and risk of bias analysis were independently performed by two authors to minimize error. Neuropsychological tests were categorized into 12 cognitive domains and effect sizes (Hedges' g) were calculated for each domain and for tests administered in ≥5 studies.
RESULTS
DM1 participants demonstrated a significantly worse performance compared to controls in all cognitive domains. Effect sizes ranged from -.33 (small) for verbal memory to -1.01 (large) for visuospatial perception. Except for the domains global cognition, intelligence and social cognition, wide confidence intervals (CIs) were associated with moderate to marked statistical heterogeneity that necessitates careful interpretation of results. Out of the individual tests, the Rey-Osterrieth complex figure-copy (both non-verbal memory and visuoconstruction) showed consistent impairment with acceptable heterogeneity.
CONCLUSION
In DM1 patients, cognitive deficits may include a variable combination of global cognitive impairment with involvement across different domains, including social cognition, memory and visuospatial functioning. Although DM1 is a heterogeneous disorder, our study shows that meta-analysis is feasible, contributes to the understanding of brain involvement and may direct bedside testing. The protocol for this study has been registered in PROSPERO (International prospective register of systematic reviews) under ID: 42016037415.
Topics: Cognition; Cognition Disorders; Humans; Memory; Myotonic Dystrophy; Neuropsychological Tests; Social Perception; Space Perception; Visual Perception
PubMed: 28892766
DOI: 10.1016/j.cortex.2017.08.008 -
Neurology Aug 2017To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1). (Review)
Review
OBJECTIVE
To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1).
METHODS
We searched Embase (index period 1974-2016) and MEDLINE (index period 1946-2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT, ultrasound, PET, or SPECT. From 81 studies, we extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible.
RESULTS
In DM1, various imaging changes are widely dispersed throughout the brain, with apparently little anatomical specificity. We found general atrophy and widespread gray matter volume reductions in all 4 cortical lobes, the basal ganglia, and cerebellum. The pooled prevalence of white matter hyperintensities is 70% (95% CI 64-77), compared with 6% (95% CI 3-12) in unaffected controls. DTI shows increased mean diffusivity in all 4 lobes and reduced fractional anisotropy in virtually all major association, projection, and commissural white matter tracts. Functional studies demonstrate reduced glucose uptake and cerebral perfusion in frontal, parietal, and temporal lobes, and abnormal fMRI connectivity patterns that correlate with personality traits. There is significant between-study heterogeneity in terms of imaging methods, which together with the established clinical variability of DM1 may explain divergent results. Longitudinal studies are remarkably scarce.
CONCLUSIONS
DM1 brains show widespread white and gray matter involvement throughout the brain, which is supported by abnormal resting-state network, PET/SPECT, and MRS parameters. Longitudinal studies evaluating spatiotemporal imaging changes are essential.
Topics: Brain; Humans; Myotonic Dystrophy; Neuroimaging
PubMed: 28768849
DOI: 10.1212/WNL.0000000000004300 -
Neuropathology : Official Journal of... Feb 2021Brain involvement in myotonic dystrophy type 1 (DM1) is characterized by heterogeneous cognitive, behavioral, and affective symptoms and imaging alterations indicative...
Brain involvement in myotonic dystrophy type 1 (DM1) is characterized by heterogeneous cognitive, behavioral, and affective symptoms and imaging alterations indicative of widespread grey and white matter involvement. The aim of the present study was to systematically review the literature on brain pathology in DM1. We conducted a structured search in EMBASE (index period 1974-2017) and MEDLINE (index period 1887-2017) on December 11, 2017, using free text and index search terms related to myotonic dystrophy type 1 and brain structures or regions. Eligible studies were full-text studies reporting on microscopic brain pathology of DM1 patients without potentially interfering comorbidity. We discussed the findings based on the anatomical region and the nature of the anomaly. Neuropathological findings in DM1 can be classified as follows: (1) protein and nucleotide deposits; (2) changes in neurons and glial cells; and (3) white matter alterations. Most findings are unspecific to DM1 and may occur with physiological aging, albeit to a lesser degree. There are similarities and contrasts with Alzheimer's disease; both show the appearance of neurofibrillary tangles in the limbic system without plaque occurrence. Likewise, there is myelin loss and gliosis, and there are dilated perivascular spaces in the white matter resemblant of cerebral small vessel disease. However, we did not find evidence of lacunar infarction or microbleeding. The various neuropathological findings in DM1 are reflective of the heterogeneous clinical and neuroimaging features of the disease. The strength of conclusions from this study's findings is bounded by limited numbers of participants in studies, methodological constraints, and lack of assessed associations between histopathology and clinical or neuroimaging findings.
Topics: Brain; Gray Matter; Humans; Inclusion Bodies; Myotonic Dystrophy; Neurofibrillary Tangles; Neuroimaging; White Matter
PubMed: 33599033
DOI: 10.1111/neup.12721 -
Neuromuscular Disorders : NMD Apr 2021Cardiac involvement is recorded in about 80% of patients affected by myotonic dystrophy type 1 (DM1). The prevalence of cardiac conduction abnormalities is well...
Cardiac involvement is recorded in about 80% of patients affected by myotonic dystrophy type 1 (DM1). The prevalence of cardiac conduction abnormalities is well described. Data regarding the prevalence of atrial fibrillation (AF) are still conflicting. The primary objective of this review was to assess the prevalence of AF in DM1. The secondary aim was to examine the association of clinical features with AF, to detect predisposing and/or influencing prognosis factors. A systematic search was developed in MEDLINE, EMBASE, Cochrane Register of Controlled Trials and Web of Science databases, to identify original reports between January 1, 2002 and January 30, 2020, assessing the prevalence of AF in DM1 population. Retrospective/prospective cohort studies and case series describing the prevalence of atrial fibrillation evaluated by periodic electrocardiogram (ECG) and/or ECG Holter 24 h, external loop recording (ELR) and implantable devices interrogation in DM1 patients were included. Case reports, simple reviews, commentaries and editorials were excluded. Thirteen reports fulfilled eligibility criteria and were included in our systematic review. According to the results from all the evaluated studies, the mean prevalence of AF in DM1 patients was 10.9% (n = 404) in 3677 DM1 patients. Male sex, conduction defects, echocardiographic findings of prolonged atrial electromechanical delay seem to be strongly associated with atrial fibrillation, representing factors favoring its onset. DM1 patients who develop AF seem to have a higher risk of cardiovascular and non-cardiovascular death. Further studies are needed to assess the prevalence of AF in DM1 patients and to investigate ECG abnormalities and other clinical features associated with this condition.
Topics: Adult; Atrial Fibrillation; Case-Control Studies; Echocardiography; Electrocardiography; Female; Humans; Male; Middle Aged; Myotonic Dystrophy; Prevalence; Prospective Studies; Retrospective Studies; Young Adult
PubMed: 33573883
DOI: 10.1016/j.nmd.2021.01.002 -
Neuromuscular Disorders : NMD Mar 2019Myotonic dystrophy type 1 (DM1) is one of the most common muscular dystrophies in adults. This review summarises the current literature regarding the natural history of...
Myotonic dystrophy type 1 (DM1) is one of the most common muscular dystrophies in adults. This review summarises the current literature regarding the natural history of respiratory dysfunction in DM1, the role of central respiratory drive and peripheral respiratory muscle involvement and its significance in respiratory function, and investigates the relationship between genetics (CTG repeat length) and respiratory dysfunction. The review included all articles that reported spirometry on 10 or more myotonic dystrophy patients. The final review included 55 articles between 1964 and 2017. The major conclusions of this review were (1) confirmation of the current consensus that respiratory dysfunction, predominantly a restrictive ventilatory pattern, is common in myotonic dystrophy and is associated with alveolar hypoventilation, chronic hypercapnia, and sleep disturbance in the form of sleep apnoea and sleep related disordered breathing; (2) contrary to commonly held belief, there is no consensus in the literature regarding the relationship between CTG repeat length and severity of respiratory dysfunction and a relationship has not been established; (3) the natural history and time-course of respiratory functional decline is very poorly understood in the current literature; (4) there is a consensus that there is a significant involvement of central respiratory drive in this alveolar hypoventilation however the current literature does not identify the mechanism for this.
Topics: Humans; Hypercapnia; Myotonic Dystrophy; Respiration Disorders; Respiratory Muscles; Sleep Wake Disorders; Trinucleotide Repeat Expansion
PubMed: 30765255
DOI: 10.1016/j.nmd.2018.12.002 -
Neuromuscular Disorders : NMD May 2022Myotonic dystrophy type 1 (DM1) is a progressive neuromuscular disease affecting both smooth and striated muscles. It has been suggested that this multisystemic disease... (Review)
Review
Myotonic dystrophy type 1 (DM1) is a progressive neuromuscular disease affecting both smooth and striated muscles. It has been suggested that this multisystemic disease also impairs the genitourinary and lower gastrointestinal systems, but information is scattered and no systematic review has been conducted. The objectives of this systematic review were to document (1) symptoms and signs associated with genitourinary and lower gastrointestinal systems in the DM1 population; (2) impacts on quality of life and participation; and (3) efficacy of treatments available to treat those conditions. Among the 75 studies included, 30 articles presented genitourinary outcomes and 67, lower gastrointestinal outcomes. A wide range of symptoms was reported for both systems but most studies were of poor quality, using medical chart reviews without the use of standardized questionnaires. Urinary incontinence, erectile dysfunction, anal incontinence, constipation, diarrhea and abdominal pain were the most described symptoms. Smooth and striated muscle impairment has been documented in small sample size studies. No experimental study evaluated the efficacy of treatments for these conditions. Few descriptive studies described altered quality of life or participation related to these conditions. Further studies should use standardized questionnaires, provide a clear definition of symptoms and investigate treatment options.
Topics: Fecal Incontinence; Humans; Male; Muscle, Skeletal; Myotonic Dystrophy; Quality of Life; Surveys and Questionnaires
PubMed: 35305881
DOI: 10.1016/j.nmd.2022.01.008 -
Journal of Affective Disorders May 2019To gain insight into the prevalence of apathy, depression and anxiety symptoms in myotonic dystrophy type 1 (DM1) patients on the basis of a systematic review with a... (Meta-Analysis)
Meta-Analysis
BACKGROUND
To gain insight into the prevalence of apathy, depression and anxiety symptoms in myotonic dystrophy type 1 (DM1) patients on the basis of a systematic review with a meta-analysis.
METHODS
One author systematically searched and selected studies from Embase, Medline, PsychInfo and Web of Science (index periods up to August 2018). Data extraction and bias assessment were performed independently by two authors. We calculated (1) a weighted pooled prevalence and (2) weighted pooled standardized mean difference (Hedges' g) from studies comparing DM1 patients to healthy and/or neuromuscular disease controls separately for symptoms of depression, anxiety and apathy.
RESULTS
The pooled prevalences of depression (26 studies, n = 1267 DM1 patients), anxiety (19 studies, n = 896) and apathy (5 studies, n = 428), were 18% (95%CI: 12-25), 16 (95%CI: 13-18) and 55% (95%CI: 50-60), respectively. Effect sizes (Hedges' g) for depression, anxiety and apathy in DM1 patients compared to healthy controls were 1.04 (95%-CI: 0.71 to 1.37), 0.87 (95%-CI: 0.51 to 1.24) and 1.13 (95%-CI:0.54-1.71). Effect sizes for symptoms of depression, anxiety and apathy were 0.29 (95% CI: -0.12 to 0.70), 0.45 (95%-CI: -0.31 to 1.22) and 1.12 (95%-CI: 0.32-1.93) for DM1 patients versus neuromuscular disease controls. In most analyses, statistical heterogeneity was high.
CONCLUSIONS
Estimated pooled prevalences of clinically significant levels of symptoms of depression, anxiety and apathy in DM1 are 19, 17 and 55% respectively. Symptoms of depression and anxiety in DM1 may reflect reactive adjustment to progressive impairment and restricted participation similar to other chronic neuromuscular disease. The literature on the prevalence and severity of apathy, although a clinically relevant and characteristic symptom of DM1, is relatively scarce.
Topics: Affective Symptoms; Anxiety Disorders; Apathy; Depressive Disorder; Humans; Myotonic Dystrophy; Prevalence
PubMed: 30870776
DOI: 10.1016/j.jad.2019.03.036 -
Journal of Cardiac Failure Oct 2020Cardiac involvement is recorded in about 80% of patients affected by myotonic dystrophy type 1 (DM1). The prevalence of cardiac conduction abnormalities and arrhythmias... (Review)
Review
Cardiac involvement is recorded in about 80% of patients affected by myotonic dystrophy type 1 (DM1). The prevalence of cardiac conduction abnormalities and arrhythmias has been well described. Data regarding the prevalence of left ventricle systolic dysfunction (LVSD) and heart failure (HF) are still conflicting. The primary objective of this review was to assess the prevalence of LVSD and HF in DM1. The secondary aim was to examine the association of clinical features with LVSD and to detect predisposing and influencing prognosis factors. A systematic search was developed in MEDLINE, EMBASE, Cochrane Register of Controlled Trials, and Web of Science databases to identify original reports between January 1, 2009, and September 30, 2017, assessing the prevalence of LVSD and HF in populations with DM1. Retrospective and prospective cohort studies and case series describing the prevalence of LVSD, as evaluated by echocardiography, and HF in patients with DM1 were included. Case reports, simple reviews, commentaries and editorials were excluded. Seven studies were identified as eligible, of which 1 was a retrospective population-based cohort study, and 6 were retrospective single-center-based cohort studies. Echocardiographic data concerning LV function were available for 647 of the 876 patients with DM1 who were included in the analysis. The prevalence of LVSD in patients with DM1, defined as LVEF < 55%, was 13.8%, 4.5-fold higher than in general population. Patients with DM1 and LVSD were older, were more likely to be male, had longer baseline atrioventricular and intraventricular conduction-time durations, had higher incidences of atrial arrhythmias, and were more likely to have undergone device implantation. Also, symptomatic HF is more prevalent in patients with DM1 despite their limited levels of physical activity. Further studies are needed to evaluate the prevalence of LVSD and HF in patients with DM1 and to investigate electrocardiographic abnormalities and other clinical features associated with this condition.
Topics: Cohort Studies; Female; Heart Failure; Humans; Male; Myotonic Dystrophy; Prevalence; Prospective Studies; Retrospective Studies; Ventricular Dysfunction, Left
PubMed: 31415861
DOI: 10.1016/j.cardfail.2019.07.548