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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 -
The Cochrane Database of Systematic... Feb 2015The Cochrane Neuromuscular Disease Group withdrew this review as of Issue 2, 2015 as the methodology was out of date and new trials have been published. The content... (Review)
Review
The Cochrane Neuromuscular Disease Group withdrew this review as of Issue 2, 2015 as the methodology was out of date and new trials have been published. The content partially overlaps with other reviews. The scope will be revised and this title will be replaced by a new protocol. The editorial group responsible for this previously published document have withdrawn it from publication.
Topics: Charcot-Marie-Tooth Disease; Child; Exercise Therapy; Gait Disorders, Neurologic; Humans; Male; Muscle Weakness; Muscular Dystrophy, Duchenne; Myotonic Dystrophy; Resistance Training; Treatment Outcome; Walking
PubMed: 25927103
DOI: 10.1002/14651858.CD003908.pub4 -
International Journal of Cardiology Apr 2015Myotonic dystrophy (MD) is a multisystem, autosomal dominant disorder best known for its skeletal muscle manifestations. Cardiac manifestations arise as a result of... (Review)
Review
UNLABELLED
Myotonic dystrophy (MD) is a multisystem, autosomal dominant disorder best known for its skeletal muscle manifestations. Cardiac manifestations arise as a result of myocardial fatty infiltration, degeneration and fibrosis and present most commonly as arrhythmias or conduction disturbances. Guidelines regarding the optimal cardiac management of patients with MD are lacking. The present article provides a summary of the pathophysiology of cardiac problems in patients with MD and provides a practical approach to contemporary cardiac monitoring and management of these patients with a focus on the prevention of complications related to conduction disturbances and arrhythmias.
METHODS
A literature search was performed using PubMed and Medline. The keywords used in the search included "myotonic dystrophy", "cardiac manifestations", "heart", "arrhythmia", "pacemaker" and "defibrillator", all terms were used in combination. In addition, "myotonic dystrophy" was searched in conjunction with "electrophysiology", "electrocardiogram", "echocardiograph", "signal averaged electrocardiograph", "magnetic resonance imaging" and "exercise stress testing". The titles of all the articles revealed by the search were screened for relevance. The abstracts of relevant titles were read and those articles which concerned the cardiac manifestations of myotonic dystrophy or the investigation and management of cardiac manifestations underwent a full manuscript review.
Topics: Animals; Disease Management; Echocardiography; Electrocardiography; Heart Diseases; Humans; Myotonic Dystrophy
PubMed: 25769007
DOI: 10.1016/j.ijcard.2015.03.069 -
Neuroepidemiology 2014Determining the prevalence of neuromuscular disorders for the general population is important to identify the scope of burden on society and enable comparisons with... (Review)
Review
BACKGROUND
Determining the prevalence of neuromuscular disorders for the general population is important to identify the scope of burden on society and enable comparisons with other health conditions. This systematic review aims to identify and collate the findings of studies published between 1960 and 2013 on the prevalence of all types of muscular dystrophies.
SUMMARY
Relevant articles were identified through electronic database searches and manual searches of reference lists. There were 38 articles from across 19 countries that met the inclusion criteria. The total combined prevalence for all muscular dystrophies for studies classified as having a low risk of bias ranged between 19.8 and 25.1 per 100,000 person-years. Myotonic dystrophy (0.5-18.1 per 100,000), Duchenne muscular dystrophy (1.7-4.2) and facioscapulohumeral muscular dystrophy (3.2-4.6 per 100,000) were found to be the most common types of disorder. There was wide variation in study methodology, case ascertainment, and verification procedures and populations studied, all of which may contribute to the wide prevalence range, in addition to the likely variation in prevalence by country. Key Messages: Greater consistency in the conduct and reporting of neuroepidemiological studies is urgently needed to enable comparisons to be made between studies, countries, and over time.
Topics: Bias; Cross-Sectional Studies; Female; Humans; Male; Muscular Dystrophies; Prevalence
PubMed: 25532075
DOI: 10.1159/000369343 -
The Cochrane Database of Systematic... Dec 2014Chronic alveolar hypoventilation is a common complication of many neuromuscular and chest wall disorders. Long-term nocturnal mechanical ventilation is commonly used to... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chronic alveolar hypoventilation is a common complication of many neuromuscular and chest wall disorders. Long-term nocturnal mechanical ventilation is commonly used to treat it. This is a 2014 update of a review first published in 2000 and previously updated in 2007.
OBJECTIVES
To examine the effects on mortality of nocturnal mechanical ventilation in people with neuromuscular or chest wall disorders. Subsidiary endpoints were to examine the effects of respiratory assistance on improvement of chronic hypoventilation, sleep quality, hospital admissions and quality of life.
SEARCH METHODS
We searched the Cochrane Neuromuscular Disease Group Specialized Register, CENTRAL, MEDLINE and EMBASE on 10 June 2014. We contacted authors of identified trials and other experts in the field.
SELECTION CRITERIA
We searched for quasi-randomised or randomised controlled trials of participants of all ages with neuromuscular or chest wall disorder-related stable chronic hypoventilation of all degrees of severity, receiving any type and any mode of long-term nocturnal mechanical ventilation. The primary outcome measure was one-year mortality and secondary outcomes were unplanned hospital admission, short-term and long-term reversal of hypoventilation-related clinical symptoms and daytime hypercapnia, improvement of lung function and sleep breathing disorders.
DATA COLLECTION AND ANALYSIS
We used standard Cochrane methodology to select studies, extract data and assess the risk of bias in included studies.
MAIN RESULTS
The 10 eligible trials included a total of 173 participants. Roughly half of the trials were at low risk of selection, attrition or reporting bias, and almost all were at high risk of performance and detection bias. Four trials reported mortality data in the long term. The pooled risk ratio (RR) of dying was 0.62 (95% confidence interval (CI) 0.42 to 0.91, P value = 0.01) in favour of nocturnal mechanical ventilation compared to spontaneous breathing. There was considerable and significant heterogeneity between the trials, possibly related to differences between the study populations. Information on unplanned hospitalisation was available from two studies. The corresponding pooled RR was 0.25 (95% CI 0.08 to 0.82, P value = 0.02) in favour of nocturnal mechanical ventilation. For most of the outcome measures there was no significant long-term difference between nocturnal mechanical ventilation and no ventilation. Most of the secondary outcomes were not assessed in the eligible trials. Three out of the 10 trials, accounting for 39 participants, two with a cross-over design and one with two parallel groups, compared volume- and pressure-cycled non-invasive mechanical ventilation in the short term. From the only trial (16 participants) on parallel groups, there was no difference in mortality (one death in each arm) between volume- and pressure-cycled mechanical ventilation. Data from the two cross-over trials suggested that compared with pressure-cycled ventilation, volume-cycled ventilation was associated with less sleep time spent with an arterial oxygen saturation below 90% (mean difference (MD) 6.83 minutes, 95% CI 4.68 to 8.98, P value = 0.00001) and a lower apnoea-hypopnoea (per sleep hour) index (MD -0.65, 95% CI -0.84 to -0.46, P value = 0.00001). We found no study that compared invasive and non-invasive mechanical ventilation or intermittent positive pressure versus negative pressure ventilation.
AUTHORS' CONCLUSIONS
Current evidence about the therapeutic benefit of mechanical ventilation is of very low quality, but is consistent, suggesting alleviation of the symptoms of chronic hypoventilation in the short term. In four small studies, survival was prolonged and unplanned hospitalisation was reduced, mainly in participants with motor neuron diseases. With the exception of motor neuron disease and Duchenne muscular dystrophy, for which the natural history supports the survival benefit of mechanical ventilation against no ventilation, further larger randomised trials should assess the long-term benefit of different types and modes of nocturnal mechanical ventilation on quality of life, morbidity and mortality, and its cost-benefit ratio in neuromuscular and chest wall diseases.
Topics: Chronic Disease; Humans; Hypoventilation; Motor Neuron Disease; Muscular Dystrophy, Duchenne; Neuromuscular Diseases; Randomized Controlled Trials as Topic; Respiration, Artificial; Sleep; Thoracic Wall; Time Factors
PubMed: 25503955
DOI: 10.1002/14651858.CD001941.pub3 -
Muscle & Nerve Apr 2015In myotonic dystrophy type 1 (DM1), leg muscle weakness is a major impairment. There are challenges to obtaining a clear portrait of muscle strength impairment. A... (Review)
Review
In myotonic dystrophy type 1 (DM1), leg muscle weakness is a major impairment. There are challenges to obtaining a clear portrait of muscle strength impairment. A systematic literature review was conducted on lower limb strength impairment in late-onset and adult phenotypes to document variables which affect strength measurement. Thirty-two articles were reviewed using the COSMIN guidelines. Only a third of the studies described a reproducible protocol. Only 2 muscle groups have documented reliability for quantitative muscle testing and only 1 total score for manual muscle testing. Variables affecting muscle strength impairment are not described in most studies. This review illustrates the variability in muscle strength assessment in relation to DM1 characteristics and the questionable validity of the results with regard to undocumented methodological properties. There is therefore a clear need to adopt a consensus on the use of a standardized muscle strength assessment protocol.
Topics: Animals; Humans; Lower Extremity; Muscle Strength; Muscle Weakness; Muscle, Skeletal; Myotonic Dystrophy; Practice Guidelines as Topic
PubMed: 25399769
DOI: 10.1002/mus.24521 -
Dysphagia Jun 2014A systematic review was conducted to investigate the pathophysiology of and diagnostic procedures for oropharyngeal dysphagia in myotonic dystrophy (MD). The electronic... (Review)
Review
A systematic review was conducted to investigate the pathophysiology of and diagnostic procedures for oropharyngeal dysphagia in myotonic dystrophy (MD). The electronic databases Embase, PubMed, and The Cochrane Library were used. The search was limited to English, Dutch, French, German, Spanish, and Portuguese publications. Sixteen studies met the inclusion criteria. Two independent reviewers assessed the methodological quality of the included articles. Swallowing assessment tools, the corresponding protocols, the studies' outcome measurements, and main findings are summarized and presented. The body of literature on pathophysiology of swallowing in dysphagic patients with MD type 1 remains scant. The included studies are heterogeneous with respect to design and outcome measures and hence are not directly comparable. More importantly, most studies had methodological problems. These are discussed in detail and recommendations for further research on diagnostic examinations for swallowing disorders in patients with MD type 1 are provided.
Topics: Barium Sulfate; Contrast Media; Deglutition; Deglutition Disorders; Endoscopy; Fluoroscopy; Humans; Interviews as Topic; Manometry; Medical History Taking; Myotonic Dystrophy; Radionuclide Imaging; Surveys and Questionnaires
PubMed: 24458731
DOI: 10.1007/s00455-013-9510-9 -
The Cochrane Database of Systematic... Jul 2013Strength training or aerobic exercise programmes might optimise muscle and cardiorespiratory function and prevent additional disuse atrophy and deconditioning in people... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Strength training or aerobic exercise programmes might optimise muscle and cardiorespiratory function and prevent additional disuse atrophy and deconditioning in people with a muscle disease. This is an update of a review first published in 2004.
OBJECTIVES
To examine the safety and efficacy of strength training and aerobic exercise training in people with a muscle disease.
SEARCH METHODS
We searched the Cochrane Neuromuscular Disease Group Specialized Register (July 2012), CENTRAL (2012 Issue 3 of 4), MEDLINE (January 1946 to July 2012), EMBASE (January 1974 to July 2012), EMBASE Classic (1947 to 1973) and CINAHL (January 1982 to July 2012).
SELECTION CRITERIA
Randomised or quasi-randomised controlled trials comparing strength training or aerobic exercise programmes, or both, to no training, and lasting at least six weeks, in people with a well-described diagnosis of a muscle disease.We did not use the reporting of specific outcomes as a study selection criterion.
DATA COLLECTION AND ANALYSIS
Two authors independently assessed trial quality and extracted the data obtained from the full text-articles and from the original investigators. We collected adverse event data from included studies.
MAIN RESULTS
We included five trials (170 participants). The first trial compared the effect of strength training versus no training in 36 people with myotonic dystrophy. The second trial compared aerobic exercise training versus no training in 14 people with polymyositis and dermatomyositis. The third trial compared strength training versus no training in a factorial trial that also compared albuterol with placebo, in 65 people with facioscapulohumeral muscular dystrophy (FSHD). The fourth trial compared combined strength training and aerobic exercise versus no training in 18 people with mitochondrial myopathy. The fifth trial compared combined strength training and aerobic exercise versus no training in 35 people with myotonic dystrophy type 1.In both myotonic dystrophy trials and the dermatomyositis and polymyositis trial there were no significant differences between training and non-training groups for primary and secondary outcome measures. The risk of bias of the strength training trial in myotonic dystrophy and the aerobic exercise trial in polymyositis and dermatomyositis was judged as uncertain, and for the combined strength training and aerobic exercise trial, the risk of bias was judged as adequate. In the FSHD trial, for which the risk of bias was judged as adequate, a +1.17 kg difference (95% confidence interval (CI) 0.18 to 2.16) in dynamic strength of elbow flexors in favour of the training group reached statistical significance. In the mitochondrial myopathy trial, there were no significant differences in dynamic strength measures between training and non-training groups. Exercise duration and distance cycled in a submaximal endurance test increased significantly in the training group compared to the control group. The differences in mean time and mean distance cycled till exhaustion between groups were 23.70 min (95% CI 2.63 to 44.77) and 9.70 km (95% CI 1.51 to 17.89), respectively. The risk of bias was judged as uncertain. In all trials, no adverse events were reported.
AUTHORS' CONCLUSIONS
Moderate-intensity strength training in myotonic dystrophy and FSHD and aerobic exercise training in dermatomyositis and polymyositis and myotonic dystrophy type I appear to do no harm, but there is insufficient evidence to conclude that they offer benefit. In mitochondrial myopathy, aerobic exercise combined with strength training appears to be safe and may be effective in increasing submaximal endurance capacity. Limitations in the design of studies in other muscle diseases prevent more general conclusions in these disorders.
Topics: Dermatomyositis; Exercise; Humans; Mitochondrial Myopathies; Muscular Diseases; Muscular Dystrophy, Facioscapulohumeral; Myotonic Dystrophy; Physical Fitness; Polymyositis; Randomized Controlled Trials as Topic; Resistance Training
PubMed: 23835682
DOI: 10.1002/14651858.CD003907.pub4 -
The Cochrane Database of Systematic... Jun 2013Progressive muscle weakness is a main symptom of most hereditary and acquired muscle diseases. Creatine improves muscle performance in healthy individuals. This is an... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Progressive muscle weakness is a main symptom of most hereditary and acquired muscle diseases. Creatine improves muscle performance in healthy individuals. This is an update of our 2007 Cochrane review that evaluated creatine treatment in muscle disorders. Previous updates were in 2009 and 2011.
OBJECTIVES
To evaluate the efficacy of creatine compared to placebo for the treatment of muscle weakness in muscle diseases.
SEARCH METHODS
On 11 September 2012, we searched the Cochrane Neuromuscular Disease Group Specialized Register, CENTRAL (2012, Issue 9 in The Cochrane Library), MEDLINE (January 1966 to September 2012) and EMBASE (January 1980 to September 2012) for randomised controlled trials (RCTs) of creatine used to treat muscle diseases.
SELECTION CRITERIA
RCTs or quasi-RCTs of creatine treatment compared to placebo in hereditary muscle diseases or idiopathic inflammatory myopathies.
DATA COLLECTION AND ANALYSIS
Two authors independently applied the selection criteria, assessed trial quality and extracted data. We obtained missing data from investigators.
MAIN RESULTS
A total of 14 trials, including 364 randomised participants, met the selection criteria. The risk of bias was low in most studies. Only one trial had a high risk of selection, performance and detection bias. No new studies were identified at this update.Meta-analysis of six trials in muscular dystrophies including 192 participants revealed a significant increase in muscle strength in the creatine group compared to placebo, with a mean difference of 8.47%; (95% confidence intervals (CI) 3.55 to 13.38). Pooled data of four trials including 115 participants showed that a significantly higher number of participants felt better during creatine treatment compared to placebo with a risk ratio of 4.51 (95% CI 2.33 to 8.74). One trial in 37 participants with idiopathic inflammatory myopathies also showed a significant improvement in functional performance. No trial reported any clinically relevant adverse event.In metabolic myopathies, meta-analyses of three cross-over trials including 33 participants revealed no significant difference in muscle strength. One trial reported a significant deterioration of activities of daily living (mean difference 0.54 on a 1 to 10 scale; 95% CI 0.14 to 0.93) and an increase in muscle pain during high-dose creatine treatment in McArdle disease.
AUTHORS' CONCLUSIONS
High quality evidence from RCTs shows that short- and medium-term creatine treatment increases muscle strength in muscular dystrophies. There is also evidence that creatine improves functional performance in muscular dystrophy and idiopathic inflammatory myopathy. Creatine is well tolerated in these people. High quality but limited evidence from RCTs does not show significant improvement in muscle strength in metabolic myopathies. High-dose creatine treatment impaired activities of daily living and increased muscle pain in McArdle disease.
Topics: Creatine; Dietary Supplements; Humans; Muscle Contraction; Muscle Strength; Muscular Diseases; Muscular Dystrophies; Myositis; Randomized Controlled Trials as Topic
PubMed: 23740606
DOI: 10.1002/14651858.CD004760.pub4 -
The Cochrane Database of Systematic... Oct 2012Oropharyngeal dysphagia encompasses problems with the oral preparatory phase of swallowing (chewing and preparing the food), oral phase (moving the food or fluid... (Review)
Review
BACKGROUND
Oropharyngeal dysphagia encompasses problems with the oral preparatory phase of swallowing (chewing and preparing the food), oral phase (moving the food or fluid posteriorly through the oral cavity with the tongue into the back of the throat) and pharyngeal phase (swallowing the food or fluid and moving it through the pharynx to the oesophagus). Populations of children with neurological impairment who commonly experience dysphagia include, but are not limited to, those with acquired brain impairment (for example, cerebral palsy, traumatic brain injury, stroke), genetic syndromes (for example, Down syndrome, Rett syndrome) and degenerative conditions (for example, myotonic dystrophy).
OBJECTIVES
To examine the effectiveness of interventions for oropharyngeal dysphagia in children with neurological impairment.
SEARCH METHODS
We searched the following electronic databases in October 2011: CENTRAL 2011(3), MEDLINE (1948 to September Week 4 2011), EMBASE (1980 to 2011 Week 40) , CINAHL (1937 to current) , ERIC (1966 to current), PsycINFO (1806 to October Week 1 2011), Science Citation Index (1970 to 7 October 2011), Social Science Citation Index (1970 to 7 October 2011), Cochrane Database of Systematic Reviews, 2011(3), DARE 2011(3), Current Controlled Trials (ISRCTN Register) (15 October 2011), ClinicalTrials.gov (15 October 2011) and WHO ICTRP (15 October 2011). We searched for dissertations and theses using Networked Digital Library of Theses and Dissertations, Australasian Digital Theses Program and DART-Europe E-theses Portal (11 October 2011). Finally, additional references were also obtained from reference lists from articles.
SELECTION CRITERIA
The review included randomised controlled trials and quasi-randomised controlled trials for children with oropharyngeal dysphagia and neurological impairment.
DATA COLLECTION AND ANALYSIS
All three review authors (AM, PD and EW) independently screened titles and abstracts for inclusion and discussed results. In cases of uncertainty over whether an abstract met inclusion criterion, review authors obtained the full-text article and independently evaluated each paper for inclusion. The data were categorised for comparisons depending on the nature of the control group (for example, oral sensorimotor treatment versus no treatment). Effectiveness of the oropharyngeal dysphagia intervention was assessed by considering primary outcomes of physiological functions of the oropharyngeal mechanism for swallowing (for example, lip seal maintenance), the presence of chest infection and pneumonia, and diet consistency a child is able to consume. Secondary outcomes were changes in growth, child's level of participation in the mealtime routine and the level of parent or carer stress associated with feeding.
MAIN RESULTS
Three studies met the inclusion criteria for the review. Two studies were based on oral sensorimotor interventions for participants with cerebral palsy compared to standard care and a third study trialled lip strengthening exercises for children with myotonic dystrophy type 1 compared to no treatment (Sjogreen 2010). A meta-analysis combining results across the three studies was not possible because one of the studies had participants with a different condition, and the remaining two, although using oral sensorimotor treatments, used vastly different approaches with different intensities and durations. The decision not to combine these was in line with our protocol. In this review, we present the results from individual studies for four outcomes: physiological functions of the oropharyngeal mechanism for swallowing, the presence of chest infection and pneumonia, diet consistency, and changes in growth. However, it is not possible to reach definitive conclusions on the effectiveness of particular interventions for oropharyngeal dysphagia based on these studies. One study had a high risk of attrition bias owing to missing data, had statistically significant differences (in weight) across experimental and control groups at baseline, and did not describe other aspects of the trial sufficiently to enable assessment of other potential risks of bias. Another study was at high risk of detection bias as some outcomes were assessed by parents who knew whether their child was in the intervention or control group. The third study overall seemed to be at low risk of bias, but like the other two studies, suffered from a small sample size.
AUTHORS' CONCLUSIONS
The review demonstrates that there is currently insufficient high-quality evidence from randomised controlled trials or quasi-randomised controlled trials to provide conclusive results about the effectiveness of any particular type of oral-motor therapy for children with neurological impairment. There is an urgent need for larger-scale (appropriately statistically powered), randomised trials to evaluate the efficacy of interventions for oropharyngeal dysphagia.
Topics: Cerebral Palsy; Child; Deglutition; Deglutition Disorders; Exercise Therapy; Humans; Myotonic Dystrophy
PubMed: 23076958
DOI: 10.1002/14651858.CD009456.pub2