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The Cochrane Database of Systematic... Apr 2007"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint. It may arise from many... (Review)
Review
BACKGROUND
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint. It may arise from many neuromuscular diseases.
OBJECTIVES
To conduct a systematic review of randomised trials of treatment for footdrop resulting from neuromuscular disease.
SEARCH STRATEGY
We searched the Cochrane Neuromuscular Disease Group Trials Register (July 2005), MEDLINE (January 1966 to July 2005), EMBASE (January 1980 to July 2005), AMED (January 1985 to July 2005) and CINAHL databases (January 1982 to July 2005).
SELECTION CRITERIA
Randomised and quasi-randomised trials of physical, orthotic and surgical treatments for footdrop resulting from lower motor neuron or muscle disease and related contractures were included. People with primary joint disease were excluded. Interventions included a 'wait and see' approach, physiotherapy, orthotics, surgery and pharmacological therapy. The primary outcome measure was ability to walk whilst secondary outcome measures included dorsiflexor torque and strength, measures of 'activity' and 'participation' and adverse effects.
DATA COLLECTION AND ANALYSIS
Methodological quality was evaluated by two authors using the van Tulder criteria. Three studies with altogether 139 participants were included in the review. Heterogeneity of the studies precluded pooling the data.
MAIN RESULTS
Early surgery did not significantly affect walking speed in a trial including 20 children with Duchenne muscular dystrophy. After one year, the mean difference (MD) of the 28 feet walking time was 0.00 seconds (95% confidence interval (CI) -0.83 to 0.83) and the MD of the 150 feet walking time was -2.88 seconds, (95% CI -8.18 to 2.42). In a trial with altogether 26 participants with Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy), long-term strength training significantly increased walking speed on a 6 metre timed walk (MD -0.70 seconds, 95% CI -1.17 to -0.23) but not on a 50 metre timed walk (MD -1.9 seconds, 95% CI -4.09 to 0.29). In a trial of a 24-week strength training programme in 28 participants with myotonic dystrophy, there was no significant change in walking speed on either a 6 or 50 metre walk.
AUTHORS' CONCLUSIONS
Using the primary outcome of ability to walk, only one study demonstrated a positive effect and that was an exercise programme for people with Charcot-Marie-Tooth disease. Surgery was not significantly effective in children with Duchenne Muscular Dystrophy. More evidence generated by methodologically sound trials is required.
Topics: Charcot-Marie-Tooth Disease; Child; Exercise Therapy; Gait Disorders, Neurologic; Humans; Male; Muscular Dystrophy, Duchenne; Treatment Outcome; Walking
PubMed: 17443532
DOI: 10.1002/14651858.CD003908.pub2 -
Genes Jun 2023Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is ,... (Review)
Review
BACKGROUND
Congenital myopathies are a group of clinically, genetically, and histologically heterogeneous diseases caused by mutations in a large group of genes. One of these is , which is recognized as the cause of Dihydropyridine Receptor Congenital Myopathy.
METHODS
To better characterize the phenotypic spectrum of myopathy, we conducted a systematic review of cases in the literature through three electronic databases following the PRISMA guidelines. We selected nine articles describing 23 patients with heterozygous, homozygous, or compound heterozygous mutations in and we added one patient with a compound heterozygous mutation in (c.1394-2A>G; c.1724T>C, p.L575P) followed at our Institute. We collected clinical and genetic data, muscle biopsies, and muscle MRIs when available.
RESULTS
The phenotype of this myopathy is heterogeneous, ranging from more severe forms with a lethal early onset and mild-moderate forms with a better clinical course.
CONCLUSIONS
Our patient presented a phenotype compatible with the mild-moderate form, although she presented peculiar features such as a short stature, myopia, mild sensorineural hearing loss, psychiatric symptoms, and posterior-anterior impairment gradient on thigh muscle MRI.
Topics: Female; Humans; Calcium Channels, L-Type; Muscular Diseases; Mutation; Muscle, Skeletal; Phenotype; Myotonia Congenita
PubMed: 37510268
DOI: 10.3390/genes14071363 -
Respiration; International Review of... 2021Chronic hypercapnic respiratory failure induces considerable morbidity and mortality in patients with myotonic dystrophy type 1 (DM1). This study systematically reviews...
INTRODUCTION
Chronic hypercapnic respiratory failure induces considerable morbidity and mortality in patients with myotonic dystrophy type 1 (DM1). This study systematically reviews the effects of noninvasive home mechanical ventilation (HMV) on gas exchange, quality of life, survival, and compliance in DM1 patients.
METHODS
A systematic Medline and Embase search was performed (January 1995 to January 2020). Records were screened for eligibility criteria, data were extracted from included studies, and risk of bias was assessed. We present findings mainly using a narrative synthesis.
RESULTS
Twenty-eight relevant full-text articles were screened for eligibility criteria. Nine studies were included. Randomized controlled trials were not found. Studies had either an observational (n = 8) or interventional (n = 1) design. In the pooled data analysis, HMV showed to improve mean oxygen saturation with 4.8% and decreased mean carbon dioxide values with 3 mm Hg. Compliance varied widely between studies, from no use to more than 12 h per day. Quality of life was not studied extensively, but some studies reported positive effects of HMV on symptoms of chronic respiratory failure. HMV may improve survival in DM1 patients with chronic hypercapnic respiratory failure.
CONCLUSION
This review shows that HMV can improve gas exchange and relieve symptoms with a possible survival benefit in DM1 patients with chronic hypercapnic respiratory failure. Future studies should focus on developing strategies to optimize the timing of HMV initiation and to promote compliance.
Topics: Adult; Humans; Myotonic Dystrophy; Noninvasive Ventilation; Patient Compliance; Pulmonary Gas Exchange; Quality of Life; Respiratory Insufficiency
PubMed: 33965950
DOI: 10.1159/000515453 -
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 -
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 -
Frontiers in Neuroscience 2021Iron has been increasingly implicated in the pathology of neurodegenerative diseases. In the past decade, development of the new magnetic resonance imaging technique,...
Iron has been increasingly implicated in the pathology of neurodegenerative diseases. In the past decade, development of the new magnetic resonance imaging technique, quantitative susceptibility mapping (QSM), has enabled for the more comprehensive investigation of iron distribution in the brain. The aim of this systematic review was to provide a synthesis of the findings from existing QSM studies in neurodegenerative diseases. We identified 80 records by searching MEDLINE, Embase, Scopus, and PsycInfo databases. The disorders investigated in these studies included Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, Wilson's disease, Huntington's disease, Friedreich's ataxia, spinocerebellar ataxia, Fabry disease, myotonic dystrophy, pantothenate-kinase-associated neurodegeneration, and mitochondrial membrane protein-associated neurodegeneration. As a general pattern, QSM revealed increased magnetic susceptibility (suggestive of increased iron content) in the brain regions associated with the pathology of each disorder, such as the amygdala and caudate nucleus in Alzheimer's disease, the substantia nigra in Parkinson's disease, motor cortex in amyotrophic lateral sclerosis, basal ganglia in Huntington's disease, and cerebellar dentate nucleus in Friedreich's ataxia. Furthermore, the increased magnetic susceptibility correlated with disease duration and severity of clinical features in some disorders. Although the number of studies is still limited in most of the neurodegenerative diseases, the existing evidence suggests that QSM can be a promising tool in the investigation of neurodegeneration.
PubMed: 33679303
DOI: 10.3389/fnins.2021.618435 -
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 -
Scientific Reports Mar 2018Antisense oligonucleotide (AON)-based therapies hold promise for a range of neurodegenerative and neuromuscular diseases and have shown benefit in animal models and... (Meta-Analysis)
Meta-Analysis
Antisense oligonucleotide (AON)-based therapies hold promise for a range of neurodegenerative and neuromuscular diseases and have shown benefit in animal models and patients. Success in the clinic is nevertheless still limited, due to unfavourable biodistribution and poor cellular uptake of AONs. Extensive research is currently being conducted into the formulation of AONs to improve delivery, but thus far there is no consensus on which of those strategies will be the most effective. This systematic review was designed to answer in an unbiased manner which delivery strategies most strongly enhance the efficacy of AONs in animal models of heritable neurodegenerative and neuromuscular diseases. In total, 95 primary studies met the predefined inclusion criteria. Study characteristics and data on biodistribution and toxicity were extracted and reporting quality and risk of bias were assessed. Twenty studies were eligible for meta-analysis. We found that even though the use of delivery systems provides an advantage over naked AONs, it is not yet possible to select the most promising strategies. Importantly, standardisation of experimental procedures is warranted in order to reach conclusions about the most efficient delivery strategies. Our best practice guidelines for future experiments serve as a step in that direction.
Topics: Animals; Disease Models, Animal; Drug Delivery Systems; Heredodegenerative Disorders, Nervous System; Neuromuscular Diseases; Oligonucleotides, Antisense
PubMed: 29520012
DOI: 10.1038/s41598-018-22316-7 -
Journal of Neuromuscular Diseases 2021Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital...
BACKGROUND
Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM), periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital myopathies. The treatment of these diseases is mainly symptomatic, aimed at reducing muscle excitability in NDM or modifying triggers of attacks in PP.
OBJECTIVE
This systematic review collected the evidences regarding effects of pharmacological treatment on muscle ion channelopathies, focusing on the possible link between treatments and genetic background.
METHODS
We searched databases for randomized clinical trials (RCT) and other human studies reporting pharmacological treatments. Preclinical studies were considered to gain further information regarding mutation-dependent drug effects. All steps were performed by two independent investigators, while two others critically reviewed the entire process.
RESULTS
For NMD, RCT showed therapeutic benefits of mexiletine and lamotrigine, while other human studies suggest some efficacy of various sodium channel blockers and of the carbonic anhydrase inhibitor (CAI) acetazolamide. Preclinical studies suggest that mutations may alter sensitivity of the channel to sodium channel blockers in vitro, which has been translated to humans in some cases. For hyperkalemic and hypokalemic PP, RCT showed efficacy of the CAI dichlorphenamide in preventing paralysis. However, hypokalemic PP patients carrying sodium channel mutations may have fewer benefits from CAI compared to those carrying calcium channel mutations. Few data are available for treatment of congenital myopathies.
CONCLUSIONS
These studies provided limited information about the response to treatments of individual mutations or groups of mutations. A major effort is needed to perform human studies for designing a mutation-driven precision medicine in muscle ion channelopathies.
Topics: Channelopathies; Humans; Hypokalemic Periodic Paralysis; Lamotrigine; Mexiletine; Muscle, Skeletal; Mutation; Myasthenic Syndromes, Congenital; Myotonic Disorders; Precision Medicine; Randomized Controlled Trials as Topic; Sodium Channel Blockers
PubMed: 33325393
DOI: 10.3233/JND-200582