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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 -
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 -
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 Patient Aug 2019Adult-onset myotonic dystrophy type 1 (DM1) is a chronic, multisystem disorder that leads to disability and premature death.
BACKGROUND
Adult-onset myotonic dystrophy type 1 (DM1) is a chronic, multisystem disorder that leads to disability and premature death.
OBJECTIVES
The objective of our study was to conduct a systematic literature review of the health-related quality of life (HRQoL) of patients with DM1.
METHODS
We searched Embase, Web of Science, and PubMed for English language full-text articles reporting results from studies of HRQoL in patients with adult-onset DM1 published between 1 January 2000 and 21 February 2018. We excluded reviews, editorials, and studies reporting results for a sample with fewer than five patients (to allow for meaningful inference).
RESULTS
The search identified 266 unique publications. Of these, 231 were excluded following title and abstract screening and 16 after full-text review, leaving 19 articles for data synthesis. We found 15 articles measuring the HRQoL of patients with adult-onset DM1 using the 36-Item Short Form Health Survey (SF-36), six using the Individualized Neuromuscular Quality of Life Questionnaire (INQoL), and one using Cantril's Ladder. Available evidence shows that patient HRQoL is impaired in DM1, mainly due to compromised physical health, but also reveals that substantial heterogeneity exists in estimates across studies.
CONCLUSIONS
HRQoL in adult-onset DM1 has been extensively studied using the SF-36 and the INQoL, but current estimates are inconclusive, and little is known of the impact of the disease as measured using other instruments. Our data synthesis should help characterize the patient burden of DM1 and inform future studies of HRQoL in this indication.
Topics: Humans; Myotonic Dystrophy; Quality of Life; Reproducibility of Results; Severity of Illness Index; Surveys and Questionnaires
PubMed: 30714084
DOI: 10.1007/s40271-019-00357-y -
Journal of Neuromuscular Diseases Aug 2016Quality of life and well-being are frequently restricted in adults with neuromuscular disorders. As such, identification of appropriate interventions is imperative. The... (Review)
Review
Quality of life and well-being are frequently restricted in adults with neuromuscular disorders. As such, identification of appropriate interventions is imperative. The objective of this paper was to systematically review and critically appraise quantitative studies (RCTs, controlled trials and cohort studies) of psychosocial interventions designed to improve quality of life and well-being in adults with neuromuscular disorders. A systematic review of the published and unpublished literature was conducted. Studies meeting inclusion criteria were appraised using a validated quality assessment tool and results presented in a narrative synthesis. Out of 3,136 studies identified, ten studies met criteria for inclusion within the review. Included studies comprised a range of interventions including: cognitive behavioural therapy, dignity therapy, hypnosis, expressive disclosure, gratitude lists, group psychoeducation and psychologically informed rehabilitation. Five of the interventions were for patients with Amyotrophic Lateral Sclerosis (ALS). The remainder were for patients with post-polio syndrome, muscular dystrophies and mixed disorders, such as Charcot-Marie-Tooth disease, myasthenia gravis and myotonic dystrophy. Across varied interventions and neuromuscular disorders, seven studies reported a short-term beneficial effect of intervention on quality of life and well-being. Whilst such findings are encouraging, widespread issues with the methodological quality of these studies significantly compromised the results. There is no strong evidence that psychosocial interventions improve quality of life and well-being in adults with neuromuscular disorders, due to a paucity of high quality research in this field. Multi-site, randomised controlled trials with active controls, standardised outcome measurement and longer term follow-ups are urgently required.
Topics: Amyotrophic Lateral Sclerosis; Charcot-Marie-Tooth Disease; Cognitive Behavioral Therapy; Disclosure; Humans; Hypnosis; Mental Health; Muscular Dystrophies; Myasthenia Gravis; Myotonic Dystrophy; Neuromuscular Diseases; Patient Education as Topic; Postpoliomyelitis Syndrome; Quality of Life
PubMed: 27854227
DOI: 10.3233/JND-160155 -
The Cochrane Database of Systematic... Jan 2010Strength 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.
OBJECTIVES
To examine the safety and efficacy of strength training and aerobic exercise training in people with a muscle disease.
SEARCH STRATEGY
We searched the Cochrane Neuromuscular Disease Group Trials Specialized Register (July 2009), the Cochrane Rehabilitation and Related Therapies Field Register (October 2002, August 2008 and July 2009), The Cochrane Central Register of Controlled Trials (The Cochrane Library Issue 3, 2009) MEDLINE (January 1966 to July 2009), EMBASE (January 1974 to July 2009), EMBASE Classic (1947 to 1973) and CINAHL (January 1982 to July 2009).
SELECTION CRITERIA
Randomised or quasi-randomised controlled trials comparing strength training or aerobic exercise programmes, or both, to no training, and lasting at least 10 weeks.For strength training Primary outcome: static or dynamic muscle strength. Secondary: muscle endurance or muscle fatigue, functional assessments, quality of life, muscle membrane permeability, pain and experienced fatigue.For aerobic exercise training Primary outcome: aerobic capacity expressed as work capacity. Secondary: aerobic capacity (oxygen consumption, parameters of cardiac or respiratory function), functional assessments, quality of life, muscle membrane permeability, pain and experienced fatigue.
DATA COLLECTION AND ANALYSIS
Two authors independently assessed trial quality and extracted the data.
MAIN RESULTS
We included three trials (121 participants). The first compared the effect of strength training versus no training in 36 people with myotonic dystrophy. The second trial compared strength training versus no training, both combined with albuterol or placebo, in 65 people with facioscapulohumeral muscular dystrophy. The third trial compared combined strength training and aerobic exercise versus no training in 18 people with mitochondrial myopathy. In the myotonic dystrophy trial there were no significant differences between training and non-training groups for primary and secondary outcome measures. In the facioscapulohumeral muscular dystrophy trial only a +1.17 kg difference (95% confidence interval 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.
AUTHORS' CONCLUSIONS
In myotonic dystrophy and facioscapulohumeral muscular dystrophy, moderate-intensity strength training appears not to do harm but there is insufficient evidence to conclude that it offers 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: Exercise; Humans; Mitochondrial Myopathies; Muscular Dystrophy, Facioscapulohumeral; Myotonic Dystrophy; Physical Fitness; Randomized Controlled Trials as Topic
PubMed: 20091552
DOI: 10.1002/14651858.CD003907.pub3 -
Journal of Neuromuscular Diseases 2024Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There...
BACKGROUND
Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities.
OBJECTIVE
We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD. Therefore, the aim of this review is to collect symptomatic treatment approaches that target facial muscle function and psychosocial interventions in various neurological diseases with altered facial expression in order to discuss the applicability to FSHD.
METHODS
A systematic search was performed. Selected studies had to include FSHD, Bell's palsy, Moebius syndrome, myotonic dystrophy type 1, or Parkinson's disease and treatment options which target altered facial expression. Data was extracted for study and patients' characteristics, outcome assessment tools, treatment, outcome of facial expression and or psychosocial functioning.
RESULTS
Forty studies met the inclusion criteria, of which only three studies included FSHD patients exclusively. Most, twenty-one, studies were performed in patients with Bell's palsy. Studies included twelve different therapy categories and results were assessed with different outcomes measures.
CONCLUSIONS
Five therapy categories were considered applicable to FSHD: training of (non-verbal) communication compensation strategies, speech training, physical therapy, conference attendance, and smile restoration surgery. Further research is needed to establish the effect of these therapies in FSHD. We recommend to include outcome measures in these studies that cover at least cosmetic, functional, communication, and quality of life domains.
Topics: Muscular Dystrophy, Facioscapulohumeral; Humans; Facial Expression; Facial Muscles; Bell Palsy
PubMed: 38517799
DOI: 10.3233/JND-230213 -
The Cochrane Database of Systematic... 2002Excessive daytime sleepiness is a common symptom of myotonic dystrophy. Psychostimulants are drugs increasingly used to treat hypersomnia in myotonic dystrophy. (Review)
Review
BACKGROUND
Excessive daytime sleepiness is a common symptom of myotonic dystrophy. Psychostimulants are drugs increasingly used to treat hypersomnia in myotonic dystrophy.
OBJECTIVES
To search systematically for, and combine all evidence from, randomised trials relating to the effects of psychostimulants in myotonic dystrophy patients with hypersomnia.
SEARCH STRATEGY
We searched the Cochrane Neuromuscular Disease Trial Register (searched May 2001) for randomised trials concerning psychostimulants in myotonic dystrophy, we searched of the bibliographies of identified papers and we contacted the authors of the papers.
SELECTION CRITERIA
We considered all randomised or quasi randomised trials that have evaluated any type of psychostimulants (versus a placebo or no treatment) in children or adults with proven myotonic dystrophy and hypersomnia.
DATA COLLECTION AND ANALYSIS
Potentially relevant papers were scrutinised by two reviewers and the selection of eligible studies was agreed by them and a third reviewer. Data were extracted by one reviewer and checked by a second reviewer.
MAIN RESULTS
Primary outcome We found no trial that assessed the effect of a psychostimulant on the results of the maintenance of wakefulness tests. Secondary outcomes Only one eligible trial was found. In this crossover double blind study of 10 patients with myotonic dystrophy, the efficacy of selegiline was evaluated against a placebo on the multiple sleep latency test. There was no difference between the selegiline and placebo periods in mean improvement in the multiple sleep latency test scale.
REVIEWER'S CONCLUSIONS
There is no evidence to support the use of a psychostimulant to treat hypersomnia in myotonic dystrophy. Randomised trials are needed to evaluate the efficacy and safety of psychostimulants.
Topics: Disorders of Excessive Somnolence; Humans; Monoamine Oxidase Inhibitors; Myotonic Dystrophy; Psychotropic Drugs; Randomized Controlled Trials as Topic; Selegiline
PubMed: 12519589
DOI: 10.1002/14651858.CD003218 -
The Cochrane Database of Systematic... Jul 2006Excessive daytime sleepiness is a common symptom of myotonic dystrophy. Psychostimulants are drugs increasingly used to treat hypersomnia in myotonic dystrophy. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Excessive daytime sleepiness is a common symptom of myotonic dystrophy. Psychostimulants are drugs increasingly used to treat hypersomnia in myotonic dystrophy.
OBJECTIVES
To search systematically for, and combine all evidence from, randomised trials relating to the effects of psychostimulants in myotonic dystrophy patients with hypersomnia.
SEARCH STRATEGY
We searched the Cochrane Neuromuscular Disease Trials Register (January 2006), MEDLINE (from January 1966 to January 2006) and EMBASE (from January 1980 to January 2006) for randomised trials concerning psychostimulants in myotonic dystrophy, checked the bibliographies of identified papers and made enquiries of the authors of the papers. The search for relevant studies was updated in January 2006.
SELECTION CRITERIA
We considered all randomised or quasi randomised trials that have evaluated any type of psychostimulants (versus a placebo or no treatment) in children or adults with proven myotonic dystrophy and hypersomnia.
DATA COLLECTION AND ANALYSIS
Potentially relevant papers were scrutinised by two authors and the selection of eligible studies was agreed by them and a third author. Data were extracted by one author and checked by a second author.
MAIN RESULTS
Primary outcome. One trial using a modified maintenance of wakefulness test showed an improvement by 5.70 (95% confidence intervals 0.1 to 11.3) minutes more in the modafinil than the control group. Secondary outcomes. In a double-blind crossover study of 10 participants with myotonic dystrophy, there was no difference between the selegiline and placebo periods in mean improvement in the multiple sleep latency test. Two trials, involving 60 participants in total, evaluated the efficacy and safety of modafinil in adults with myotonic dystrophy-related daytime sleepiness. The weighted mean difference on the Epworth Sleepiness Scale was -1.59 (95% confidence intervals, -2.77 to -0.42) in favour of modafinil.
AUTHORS' CONCLUSIONS
There is no evidence to support the routine use of psychostimulants to treat hypersomnia in myotonic dystrophy. There is some evidence from two studies that modafinil may improve daytime sleepiness. More randomised trials are needed to evaluate the efficacy and safety of psychostimulants.
Topics: Benzhydryl Compounds; Disorders of Excessive Somnolence; Humans; Modafinil; Monoamine Oxidase Inhibitors; Myotonic Dystrophy; Psychotropic Drugs; Randomized Controlled Trials as Topic; Selegiline
PubMed: 16855999
DOI: 10.1002/14651858.CD003218.pub2 -
JAMA Neurology Nov 2016Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunction or may be caused indirectly by neuronal and neuromuscular junction... (Review)
Review
IMPORTANCE
Muscle weakness, the most common symptom of neuromuscular disease, may result from muscle dysfunction or may be caused indirectly by neuronal and neuromuscular junction abnormalities. To date, more than 780 monogenic neuromuscular diseases, linked to 417 different genes, have been identified in humans. Genome-editing methods, especially the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 (CRISPR-associated protein 9) system, hold clinical potential for curing many monogenic disorders, including neuromuscular diseases such as Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myotonic dystrophy type 1.
OBJECTIVES
To provide an overview of genome-editing approaches; to summarize published reports on the feasibility, efficacy, and safety of current genome-editing methods as they relate to the potential correction of monogenic neuromuscular diseases; and to highlight scientific and clinical opportunities and obstacles toward permanent correction of disease-causing mutations responsible for monogenic neuromuscular diseases by genome editing.
EVIDENCE REVIEW
PubMed and Google Scholar were searched for articles published from June 30, 1989, through June 9, 2016, using the following keywords: genome editing, CRISPR-Cas9, neuromuscular disease, Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myotonic dystrophy type 1. The following sources were reviewed: 341 articles describing different approaches to edit mammalian genomes; 330 articles describing CRISPR-Cas9-mediated genome editing in cell culture lines (in vitro) and animal models (in vivo); 16 websites used to generate single-guide RNA; 4 websites for off-target effects; and 382 articles describing viral and nonviral delivery systems. Articles describing neuromuscular diseases, including Duchenne muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, and myotonic dystrophy type 1, were also reviewed.
FINDINGS
Multiple proof-of-concept studies reveal the feasibility and efficacy of genome-editing-meditated correction of monogenic neuromuscular diseases in cultured cells and animal models.
CONCLUSIONS AND RELEVANCE
Genome editing is a rapidly evolving technology with enormous translational potential once efficacy, delivery, and safety issues are addressed. The clinical impact of this technology is that genome editing can permanently correct disease-causing mutations and circumvent the hurdles of traditional gene- and cell-based therapies.
Topics: Amyotrophic Lateral Sclerosis; Animals; Clustered Regularly Interspaced Short Palindromic Repeats; Gene Editing; Genetic Therapy; Humans; Muscular Atrophy, Spinal; Muscular Dystrophy, Duchenne; Myotonic Dystrophy
PubMed: 27668807
DOI: 10.1001/jamaneurol.2016.3388