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The Cochrane Database of Systematic... Oct 2019Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular disorder. When boys with DMD reach the second decade of life, they lose their ability to walk... (Review)
Review
BACKGROUND
Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular disorder. When boys with DMD reach the second decade of life, they lose their ability to walk and become wheelchair dependent. Standing devices and orthoses are considered to be an essential component in the therapy management of DMD. Clinical opinion and research from other neurological conditions highlight the proposed benefits of standing device use, however, its effect within this population is currently unknown. A review of the evidence for the use of standing devices and orthoses is necessary to inform all stakeholders, including people with DMD, clinicians, decision makers and funders, and to guide future research.
OBJECTIVES
To assess the effects of standing devices and orthoses on musculoskeletal impairments (such as pain, contracture, scoliosis development and bone density) in boys and men with DMD, and secondarily to determine their effect on quality of life, participation in activities, and patient experience (satisfaction). We also considered any adverse events associated with their use.
SEARCH METHODS
We searched the Cochrane Neuromuscular Specialised Register, CENTRAL, MEDLINE, Embase, AMED, PsycINFO, CINAHL Plus, PEDro, and ProQuest Dissertations & Theses Global up to 5 September 2019. We checked references in identified trials, handsearched journal abstracts, and searched trials registries.
SELECTION CRITERIA
We planned to include randomised controlled trials (RCTs) and quasi-RCTs of any model of standing device for use in DMD. The control interventions would have been any other comparison group, including no standing device, a different model of standing device, usual care, or an alternative form of assistive weight bearing.
DATA COLLECTION AND ANALYSIS
We used standard Cochrane methodological procedures.
MAIN RESULTS
Although we identified 13 potentially relevant studies, none met the inclusion criteria for this review.
AUTHORS' CONCLUSIONS
Since there were no RCTs or quasi-RCTs available to evaluate the effectiveness of standing devices in people with DMD, studies are needed to investigate the effectiveness of standing devices in this population.
PubMed: 31606891
DOI: 10.1002/14651858.CD011550.pub2 -
Arquivos de Neuro-psiquiatria Sep 2016To investigate the relationship between DMD and pain. (Review)
Review
OBJECTIVE
To investigate the relationship between DMD and pain.
METHODS
We conducted a systematic review in Medline/PubMed and BVS (virtual library in health) databases. We searched for articles that showed the terms "Muscular Dystrophy, Duchenne" and "Pain" in all fields. All studies included boys diagnosed with DMD and the occurrence/amount of pain on this population.
RESULTS
Initially, there were 175 studies. 167 articles were excluded for not meeting the inclusion criteria. The remaining eight eligible studies, involving pain assessment in DMD, were analyzed.
CONCLUSION
Pain is a frequent problem in this population and this symptom is potentially tractable. Studies conclude that pain can directly influence the quality of life of this population.
Topics: Chronic Pain; Humans; Male; Muscular Dystrophy, Duchenne; Myalgia; Pain Measurement; Quality of Life
PubMed: 27706427
DOI: 10.1590/0004-282X20160107 -
Hellenic Journal of Cardiology : HJC =... 2023Duchenne muscular dystrophy is a fatal X-linked recessive disease affecting approximately 1 in 3500 births. It is characterized by a genetic lack of dystrophin, which is... (Review)
Review
Duchenne muscular dystrophy is a fatal X-linked recessive disease affecting approximately 1 in 3500 births. It is characterized by a genetic lack of dystrophin, which is an essential protein for maintaining muscle integrity. The lack of dystrophin plays a pathophysiological role in the development of dilated cardiomyopathy in Duchenne muscular dystrophy. Currently, no consensus exists on specific pharmacological therapy guidelines for these patients; however, it centers around the guidelines for heart failure management. This systematic review investigated 12 randomized control trials dating back to 2005 in the pharmacotherapy of patients with dilated cardiomyopathy Duchenne muscular dystrophy. This review specifically included angiotensin-converting enzyme inhibitors, aldosterone receptor blockers, angiotensin receptor/neprilysin inhibitors, beta-blockers, and mineralocorticoid receptor antagonists. Despite their limitations, these studies have shown promising effects in improving the overall heart function and prognosis in patients with this condition. However, to attain higher statistical significance, future studies should investigate larger populations and for longer periods.
Topics: Humans; Cardiomyopathy, Dilated; Muscular Dystrophy, Duchenne; Dystrophin; Angiotensin-Converting Enzyme Inhibitors; Adrenergic beta-Antagonists
PubMed: 37406964
DOI: 10.1016/j.hjc.2023.06.007 -
Orphanet Journal of Rare Diseases Sep 2023To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2). (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2).
STUDY DESIGN
We conducted a systematic search of NF1 and NF2 incidence or prevalence studies, in OVID Medline, OVID Embase, Web of Science, and Cinahl. Studies were appraised with the Joanna Briggs Institute Prevalence Critical Appraisal tool. Pooled incidence and prevalence rates were estimated through random-effects meta-analysis.
RESULTS
From 1,939 abstracts, 20 studies were fully appraised and 12 were included in the final review. Pooled NF1 prevalence was 1 in 3,164 (95%CI: 1 in 2,132-1 in 4,712). This was higher in studies that screened for NF1, compared to identification of NF1 through medical records (1 in 2,020 and 1 in 4,329, respectively). NF1 pooled birth incidence was 1 in 2,662 (95%CI: 1 in 1,968-1 in 3,601). There were only 2 studies on NF2 prevalence, so data were not pooled. Pooled NF2 birth incidence was 1.08 per 50,000 births (95%CI: 1 in 32,829-1 in 65,019).
CONCLUSION
We present updated estimates of the incidence and prevalence of NF1 and NF2, to help plan for healthcare access and allocation. The prevalence of NF1 from screening studies is higher than from medical record studies, suggesting that the disease may be under recognized. More studies are needed regarding the prevalence of NF2.
Topics: Humans; Incidence; Neurofibromatosis 1; Prevalence; Health Services Accessibility; Medical Records
PubMed: 37710322
DOI: 10.1186/s13023-023-02911-2 -
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 -
Pharmaceuticals (Basel, Switzerland) Aug 2021The transforming growth factor beta (TGFβ) pathway could modulate the Duchenne muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association... (Review)
Review
The transforming growth factor beta (TGFβ) pathway could modulate the Duchenne muscular dystrophy (DMD) phenotype. This meta-analysis aims to estimate the association of genetic variants involved in the TGFβ pathway, including the latent transforming growth factor beta binding protein 4 () and secreted phosphoprotein 1 () genes, among others, with age of loss of ambulation (LoA) and cardiac function in patients with DMD. Meta-analyses were conducted for the hazard ratio (HR) of LoA for each genetic variant. A subgroup analysis was performed in patients treated exclusively with glucocorticoids. Eight studies were included in the systematic review and four in the meta-analyses. The systematic review suggests a protective effect of haplotype IAAM (recessive model) for LoA. It is also suggested that the rs28357094 genotype G (dominant model) is associated with early LoA in glucocorticoids-treated patients. The meta-analysis of the haplotype IAAM showed a protective association with LoA, with an HR = 0.78 (95% CI: 0.67-0.90). No association with LoA was observed for the rs28357094. The haplotype IAAM is associated with a later LoA, especially in the Caucasian population, while the rs28357094 genotype G could be associated with a poor response to glucocorticoids. Future research is suggested for rs11730582, rs710160, and rs2725797.
PubMed: 34451895
DOI: 10.3390/ph14080798 -
Neuroscience and Biobehavioral Reviews Jun 2022Brain co-morbidities in DMD are well-documented, less is known about the cognitive, behavioral and psychosocial functioning of patients with BMD. (Review)
Review
BACKGROUND
Brain co-morbidities in DMD are well-documented, less is known about the cognitive, behavioral and psychosocial functioning of patients with BMD.
METHODS
The systematic review was carried out on two databases (Pubmed and Scopus) according to the PRISMA guidelines. We included all research articles specific to BMD written after 1995.
RESULTS
Studies examining neuropsychological and neurobehavioral functioning in BMD are few and have several methods limitations. BMD population is characterized by high rates of cognitive impairment, with specific involvement of different cognitive areas. Unlike DMD, verbal skills are better preserved. Neurodevelopmental and emotional/behavioral disorders have great importance in BMD, due to their high prevalence. Lack of Dp140 or Dp71 can cause intellectual disability, these isoforms are probably responsible for the other brain-related comorbidities as well.
DISCUSSION
The results suggest that cognitive and neuropsychiatric comorbid symptoms may affect a significant proportion of BMD patients therefore it is important to mental health and neuropsychological screening. Finding tools for an adequate assessment is a priority in order to include brain outcome measures in clinical trials.
Topics: Brain; Cognition; Dystrophin; Humans; Muscular Dystrophy, Duchenne; Protein Isoforms
PubMed: 35367224
DOI: 10.1016/j.neubiorev.2022.104648 -
Journal of Neuromuscular Diseases 2023Dystrophinopathies are associated with neuropsychiatric disorders due to alterations in dystrophin/DMD expression. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Dystrophinopathies are associated with neuropsychiatric disorders due to alterations in dystrophin/DMD expression.
OBJECTIVE
The objective was to estimate the association of developmental disorders, autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), depression, anxiety disorders, and obsessive-compulsive disorder with the dystrophin/DMD genotype in population with dystrophinopathies.
METHODS
Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were performed from inception to September 2022. We included observational studies in the population with Becker or Duchenne muscular dystrophies (BMD, DMD) that estimated the prevalence of these disorders according to Dp140 and/or Dp71 genotype. Meta-analysis of the prevalence ratio (PR) of genotype comparisons was conducted for each disorder.
RESULTS
Ten studies were included in the systematic review. In BMD, Dp140+ vs. Dp140- and Dp71+ vs. Dp71- were associated with developmental disorders with a PR of 0.11 (0.04, 0.34) and 0.22 (0.07, 0.67), respectively. In DMD, Dp140+/Dp71+ vs. Dp140- /Dp71- had a PR of 0.40 (0.28, 0.57), and Dp71+ vs. Dp71- had a PR of 0.47 (0.36, 0.63) for ADHD. However, there was no association of genotype with ASD, only a trend was observed for Dp71+ vs. Dp71-, with a PR of 0.61 (0.35, 1.06). Moreover, the data showed no association of these isoforms with emotional-related disorders.
CONCLUSIONS
In BMD, Dp140 and Dp71 could be associated with developmental disorders, while ADHD might be associated with the Dp71 genotype in DMD. Further research is needed regarding Dp140 and Dp71, especially in DMD for ASD.
Topics: Humans; Dystrophin; Genetic Predisposition to Disease; Genotype; Mental Disorders; Muscular Dystrophies; Muscular Dystrophy, Duchenne; Prevalence
PubMed: 36565132
DOI: 10.3233/JND-221586 -
European Neurology 2022Increasing evidence has shown that oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD). Oxidative stress impairs muscle function,... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Increasing evidence has shown that oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD). Oxidative stress impairs muscle function, reduces regenerative capacity, and leads to atrophy and muscle weakness. The present study aimed to evaluate the effectiveness and safety of antioxidants in treatment of DMD patients.
METHODS
Medline, Embase, EBSCOhost, and Cochrane Library databases were searched using relevant keywords regarding DMD and antioxidants. The risk of bias for all included studies was assessed using the Cochrane risk of bias tool. The effectiveness of antioxidants in improving pulmonary function and muscle strength in DMD patients and their rate of adverse events was evaluated by meta-analysis.
RESULTS
A total of nine eligible studies were identified. Among these, two studies involving 85 patients compared idebenone with placebo. Pooled data showed a significant improvement in pulmonary function after idebenone treatment. Flavonoids- and omega 3-based compounds (FLAVOMEGA) significantly improved muscle strength. Two studies evaluated coenzyme Q10 (CoQ10) and reported clinical improvement in physical activity. The remaining four studies evaluated pentoxifylline, superoxide dismutase, vitamin E combination with penicillamine and penicillamine alone, respectively, and found no significant differences between the intervention and placebo groups, measured by pulmonary function, muscle strength, movement function, or quality of life. Most adverse events were mild, while the rates of dropout and serious adverse events were low with respect to antioxidants.
CONCLUSIONS
Idebenone appeared to be safe and effective in improving pulmonary function in DMD patients, while pentoxifylline, superoxide dismutase, penicillamine, or a combination of vitamin E with penicillamine did not show a significant therapeutic effect. CoQ10 and FLAVOMEGA might be beneficial in improving muscle strength or physical activity in DMD patients. However, additional trials with more participants are warranted in the future.
Topics: Antioxidants; Flavonoids; Humans; Muscular Dystrophy, Duchenne; Penicillamine; Pentoxifylline; Quality of Life; Superoxide Dismutase; Vitamin E
PubMed: 35697003
DOI: 10.1159/000525045 -
Gait & Posture May 2018Although prolonged ambulation is considered important in children with Duchenne muscular dystrophy (DMD), articles describing gait deviations in DMD are scarce. (Review)
Review
BACKGROUND
Although prolonged ambulation is considered important in children with Duchenne muscular dystrophy (DMD), articles describing gait deviations in DMD are scarce.
RESEARCH QUESTION
Therefore, our research questions were the following: 1) what are the most consistently reported spatiotemporal-, kinematic-, kinetic-, and muscle activity deviations in children with DMD in literature, 2) what is the quality of the studies describing these deviations, and 3) is there need for further research?
METHODS
We conducted a systematic literature search for studies published before the end of June 2017 in six online databases. We created a data extraction form to define information on materials and methods and on the analyzed gait parameters for each paper included in the review. If enough information was available, we calculated standardized mean differences (SMDs).
RESULTS
The search yielded nine articles, but generalizability was poor. Seventy-nine parameters were analyzed by seven research groups, but they only agreed on a decrease in walking speed (minimal SMD: 1.26), stride length (1.83), step length (1.80), dorsiflexion during swing (1.43), maximal power generation at the hip (0.92), maximal knee extension torque (0.99), maximal dorsiflexion torque (-1.30), and maximal power generation at the ankle (0.92), and an increased knee range of motion (-0.82) in DMD.
SIGNIFICANCE
In order to keep children with DMD ambulant as long as possible, a clear understanding of their pathological gait pattern is necessary. However, gait deviations in DMD appear not well defined. Previous studies appear to be of an exploratory nature while using predefined gait parameters to assess an undirected null hypothesis. This made them prone to regional focus bias, thereby increasing the chance of a type I error. Therefore, further research is required to define the altered gait pattern in children with DMD.
Topics: Biomechanical Phenomena; Child; Gait; Gait Disorders, Neurologic; Humans; Kinetics; Muscular Dystrophy, Duchenne
PubMed: 29579701
DOI: 10.1016/j.gaitpost.2018.03.020