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Orthopaedics & Traumatology, Surgery &... Feb 2018Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular... (Review)
Review
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD. The main NMDs relevant to the orthopaedic surgeon are infantile spinal muscular atrophy (a motor neuron disease), peripheral neuropathies (chiefly, Charcot-Marie-Tooth disease), congenital muscular dystrophies, progressive muscular dystrophies, and Steinert myotonic dystrophy (or myotonic dystrophy type 1). Muscle weakness is a symptom shared by all these conditions. The paediatric orthopaedic surgeon must be familiar, not only with the musculoskeletal system, but also with many other domains (particularly respiratory and cardiac function and nutrition) that may interfere with the treatment and require preoperative management. Good knowledge of the natural history of each NMD is essential to ensure optimal timing of the therapeutic interventions, which must be performed under the best possible conditions in these usually frail patients. Timing is particularly crucial for the treatment of spinal deformities due to paraspinal muscle hypotonia during growth: depending on the disease and natural history, the treatment may involve non-operative methods or growing rods, followed by spinal fusion. A multidisciplinary approach is always required. Finally, the survival gains achieved in recent years increasingly require attention to preparing for adult life, to orthopaedic problems requiring treatment before the patient leaves the paediatric environment, and to the transition towards the adult healthcare system.
Topics: Adult; Child; Humans; Muscle Weakness; Neuromuscular Diseases; Orthopedics; Pediatrics; Preoperative Care; Scoliosis
PubMed: 29196274
DOI: 10.1016/j.otsr.2017.04.019 -
International Journal of Molecular... Jul 2021The neuromuscular junction (NMJ) is a specialized synapse that bridges the motor neuron and the skeletal muscle fiber and is crucial for conversion of electrical... (Review)
Review
The neuromuscular junction (NMJ) is a specialized synapse that bridges the motor neuron and the skeletal muscle fiber and is crucial for conversion of electrical impulses originating in the motor neuron to action potentials in the muscle fiber. The consideration of contributing factors to skeletal muscle injury, muscular dystrophy and sarcopenia cannot be restricted only to processes intrinsic to the muscle, as data show that these conditions incur denervation-like findings, such as fragmented NMJ morphology and corresponding functional changes in neuromuscular transmission. Primary defects in the NMJ also influence functional loss in motor neuron disease, congenital myasthenic syndromes and myasthenia gravis, resulting in skeletal muscle weakness and heightened fatigue. Such findings underscore the role that the NMJ plays in neuromuscular performance. Regardless of cause or effect, functional denervation is now an accepted consequence of sarcopenia and muscle disease. In this short review, we provide an overview of the pathologic etiology, symptoms, and therapeutic strategies related to the NMJ. In particular, we examine the role of the NMJ as a disease modifier and a potential therapeutic target in neuromuscular injury and disease.
Topics: Aging; Animals; Humans; Muscle, Skeletal; Neuromuscular Diseases; Neuromuscular Junction
PubMed: 34360831
DOI: 10.3390/ijms22158058 -
European Respiratory Review : An... Dec 2022Neuromuscular disease causes a progressive decline in ventilatory function which respiratory muscle training may address. Previous systematic reviews have focussed on... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Neuromuscular disease causes a progressive decline in ventilatory function which respiratory muscle training may address. Previous systematic reviews have focussed on single diseases, whereas this study systematically reviewed the collective evidence for respiratory muscle training in children and adults with any neuromuscular disease.
METHODS
Seven databases were searched for randomised controlled trials. Three reviewers independently reviewed eligibility, extracted characteristics, results, determined risk of bias and combined results using narrative synthesis and meta-analysis.
RESULTS
37 studies (40 publications from 1986-2021, n=951 participants) were included. Respiratory muscle training improved forced vital capacity (standardised mean difference (SMD) 0.40 (95% confidence interval 0.12-0.69)), maximal inspiratory (SMD 0.53 (0.21-0.85)) and maximal expiratory pressure (SMD 0.70 (0.35-1.04)) compared to control (usual care, sham or alternative treatment). No impact on cough, dyspnoea, voice, physical capacity or quality of life was detected. There was high degree of variability between studies.
DISCUSSION
Study heterogeneity (children and adults, different diseases, interventions, dosage and comparators) suggests that the results should be interpreted with caution. Including all neuromuscular diseases increased the evidence pool and tested the intervention overall.
CONCLUSIONS
Respiratory muscle training improves lung volumes and respiratory muscle strength in neuromuscular disease, but confidence is tempered by limitations in the underlying research.
Topics: Adult; Child; Humans; Quality of Life; Breathing Exercises; Neuromuscular Diseases; Respiratory Muscles; Cough
PubMed: 36450369
DOI: 10.1183/16000617.0065-2022 -
Muscle & Nerve Apr 2021Muscle ultrasound is a valuable addition to the neuromuscular toolkit in both the clinic and research settings, with proven value and reliability. However, it is... (Review)
Review
Muscle ultrasound is a valuable addition to the neuromuscular toolkit in both the clinic and research settings, with proven value and reliability. However, it is currently not fulfilling its full potential in the diagnostic care of patients with neuromuscular disease. This review highlights the possibilities and pitfalls of muscle ultrasound as a diagnostic tool and biomarker, and discusses challenges to its widespread implementation. We expect that limitations in visual image interpretation, posed by user inexperience, could be overcome with simpler scoring systems and the help of deep-learning algorithms. In addition, more information should be collected on the relation between specific neuromuscular disorders, disease stages, and expected ultrasound abnormalities, as this will enhance specificity of the technique and enable the use of muscle ultrasound as a biomarker. Quantified muscle ultrasound gives the most sensitive results but is hampered by the need for device-specific reference values. Efforts in creating dedicated muscle ultrasound systems and artificial intelligence to help with image interpretation are expected to improve usability. Finally, the standard inclusion of muscle and nerve ultrasound in neuromuscular teaching curricula and guidelines will facilitate further implementation in practice. Our hope is that this review will help in unleashing muscle ultrasound's full potential.
Topics: Algorithms; Artificial Intelligence; Humans; Muscle, Skeletal; Neuromuscular Diseases; Reference Values; Ultrasonography
PubMed: 33051891
DOI: 10.1002/mus.27081 -
Respiratory Care Jun 2019Neuromuscular diseases are a heterogeneous group of neurologic diseases that affect a number of neural structures including the motor nerves, neuromuscular junctions, or... (Review)
Review
Neuromuscular diseases are a heterogeneous group of neurologic diseases that affect a number of neural structures including the motor nerves, neuromuscular junctions, or the muscles themselves. Although many of the diseases are rare, the total number of individuals who present to a pulmonologist or respiratory care provider is significant. Approaches to care include regular and careful clinical follow-up of symptoms of sleep-disordered breathing, daytime hypoventilation, as well as cough and swallowing effectiveness. Noninvasive support with nocturnal mask ventilation and a pressure support device can be extraordinarily helpful and delay daytime ventilatory failure. When daytime ventilatory failure develops, other noninvasive methods are available for portable assistance. Support of cough function with manual assistance, a resuscitator bag, and/or mechanical insufflation-exsufflation can help prevent and treat infection. Referral for swallowing evaluation and treatment is very important for those with impaired bulbar function. This comprehensive respiratory care approach to individuals with neuromuscular disease and respiratory system involvement is essential to maintaining the health and longevity of these individuals.
Topics: Cough; Deglutition; Humans; Hypoventilation; Insufflation; Laryngeal Masks; Neuromuscular Diseases; Noninvasive Ventilation; Oxygen Inhalation Therapy; Respiratory Therapy; Sleep Apnea Syndromes
PubMed: 31110036
DOI: 10.4187/respcare.06827 -
Orthopaedics & Traumatology, Surgery &... Feb 2013Scoliosis is a common deformity in many types of neuromuscular disease. Severe spinal curvature can cause difficulty in sitting. Conservative and surgical treatment of... (Review)
Review
Scoliosis is a common deformity in many types of neuromuscular disease. Severe spinal curvature can cause difficulty in sitting. Conservative and surgical treatment of neuromuscular scoliosis differs from idiopathic scoliosis, being more complex and with a higher complications rate. Non-surgical measures rarely fully control progressive scoliosis, but aim to prevent spinal deformities secondary to muscular hypotonia or contracture. Twenty-four hour bracing should be adjusted throughout growth, and may induce functional impairment and loss of independence. Corrective surgery requires multidisciplinary management and perioperative screening. Pelvic obliquity is commonly associated with neuromuscular scoliosis, making sitting difficult: correction needs to be considered during surgical planning. The goal of surgical correction is to obtain and maintain a well-balanced spine above a well-positioned pelvis. Preoperative multidisciplinary assessment enables potential problems of terrain to be anticipated. Respiratory function investigation will guide possible non-invasive perioperative ventilation. Nutritional and psychosocial assessment should also be incorporated in this preparation, as should overall postoperative care. Implementing this overall strategic planning can achieve a good surgical and functional result in the vast majority of cases.
Topics: Humans; Neuromuscular Diseases; Scoliosis
PubMed: 23337438
DOI: 10.1016/j.otsr.2012.11.002 -
Journal of Foot and Ankle Research Mar 2020Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these... (Review)
Review
BACKGROUND
Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of health and disability, yet gait is a complex, multi-faceted activity. Using the International Classification of Function, Health and Disability (ICF) model, assessment of gait and functional ambulation should consider the impairments, activity limitations and participation restrictions due to disease, and factors related to the environment and the individual person.
METHODS
This narrative review involved a literature search of databases including Medline, Embase and Pubmed from 1946 to October 2019. Inclusion criteria included assessments of gait, endurance and ambulatory function in paediatric (0-18 years) neuromuscular diseases.
RESULTS
Fifty-two papers were identified reporting assessments of gait speed, timed function, endurance and ambulatory capacity, gait-related balance and qualitative descriptive assessments of gait function and effect of disease on gait and gait-related activities. Gait speed is an indicator of disability and children with neuromuscular disease walk slower than typically developing peers. Increasing disease severity and age were associated with slower walking in children with Duchenne muscular dystrophy and Charcot-Marie-Tooth disease. The six-minute walk test is used widely as a test of endurance and ambulatory capacity; six-minute walk distance was substantially reduced across all paediatric neuromuscular diseases. Endurance and ambulatory capacity was more limited in children with spinal muscular atrophy type 3, congenital muscular dystrophy and older boys with Duchenne muscular dystrophy. Only a few papers considered normalisation of gait parameters accounting for the effect on gait of height in heterogeneous groups of children and linear growth in longitudinal studies. Balance related to gait was considered in five papers, mainly in children with Charcot-Marie-Tooth disease. There was limited investigation of factors including distance requirements and terrain in children's typical environments and personal factors related to self-perception of disease effect on gait and gait-related function.
CONCLUSION
Assessments of gait and functional ambulation are important considerations in documenting disease progression and treatment efficacy in the clinical setting; and in clinical trials of disease-modifying agents and physiotherapeutic interventions in paediatric neuromuscular diseases. There is a need for expert consensus on core gait and functional ambulation assessments for use in clinical and research settings.
Topics: Adolescent; Charcot-Marie-Tooth Disease; Child; Child, Preschool; Disease Progression; Female; Gait Analysis; Gait Disorders, Neurologic; Humans; Infant; Infant, Newborn; International Classification of Functioning, Disability and Health; Male; Mobility Limitation; Muscular Dystrophy, Duchenne; Neuromuscular Diseases; Walking
PubMed: 32122377
DOI: 10.1186/s13047-020-0378-2 -
Respiratory Care Feb 2020Mechanical insufflation-exsufflation (MI-E) devices increase expiratory air flow and thereby promote increased cough peak flow (CPF) in conjunction with a cough. There...
BACKGROUND
Mechanical insufflation-exsufflation (MI-E) devices increase expiratory air flow and thereby promote increased cough peak flow (CPF) in conjunction with a cough. There is little research looking at long-term use of MI-E in subjects with neuromuscular disease (NMD), and no long-term study has reported CPF, MI-E device settings, and adherence.
METHODS
We evaluated 181 patient records (130 adults, 51 children) of individuals who received a MI-E device from our center between February 2014 and February 2018. Median age (interquartile range [IQR]) was 27 (14-51) y. Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), and amyotrophic lateral sclerosis (ALS) were the 3 most common diagnoses.
RESULTS
MI-E devices were provided to the weakest subjects with a CPF < 160 L/min. Median (IQR) settings were insufflation, 25 (23-30) cm HO, exsufflation -35 (-30 to -40) cm HO, insufflation time 1.5 (1.3-1.7) s, exsufflation time 1.8 (1.5-2.0) s, and pause 1.5 (1.3-2.0) s. The inspiratory flow profile was set to high in all subjects, and no subject used supplemental oxygen with the MI-E device. When comparing insufflation pressures to exsufflation pressures, a greater negative pressure was used relative to positive pressure ( < .001). When comparing insufflation to exsufflation time, there was a significantly longer exsufflation duration ( < .001). Median (IQR) CPF at the start of MI-E was 60 (10-100) L/min. There was no correlation between either insufflation or exsufflation pressures and CPF. Median (IQR) usage for the group was 60% (13.5-100%) of days for the total days. Subjects with tracheostomies or SMA type I had the greatest adherence to treatment. Median (IQR) duration of MI-E use was 17 (8.5-32) months. Ninety-six percent of subjects were receiving ventilatory support.
CONCLUSIONS
Greater exsufflation pressures than insufflation pressures, together with a shorter insufflation time than exsufflation time, were used. Predicting good adherence among the subjects was difficult. Subjects who produced daily secretions were more likely to use MI-E every day.
Topics: Adolescent; Adult; Cough; Female; Humans; Insufflation; Male; Middle Aged; Neuromuscular Diseases; Peak Expiratory Flow Rate; Young Adult
PubMed: 31690614
DOI: 10.4187/respcare.06882 -
BMJ Open Sep 2021This systematic review aimed in assessing the effects of different weaning protocols in people with neuromuscular disease (NMD) receiving invasive mechanical...
OBJECTIVE
This systematic review aimed in assessing the effects of different weaning protocols in people with neuromuscular disease (NMD) receiving invasive mechanical ventilation, identifying which protocol is the best and how different protocols can affect weaning outcome success, duration of weaning, intensive care unit (ICU) and hospital stay and mortality.
DESIGN
Systematic review.
DATA SOURCES
Electronic databases (MEDLINE, EMBASE, Web of Science and Scopus) were searched from January 2009 to August 2020.
ELIGIBILITY CRITERIA FOR SELECTING STUDIES
Randomised controlled trials (RCTs) and non-RCT that evaluated patients with NMD (adults and children from 5 years old) in the weaning process managed with a protocol (pressure support ventilation; synchronised intermittent mandatory ventilation; continuous positive airway pressure; 'T' piece).
PRIMARY OUTCOME
Weaning success.
SECONDARY OUTCOMES
Weaning duration, ICU stay, hospital stay, ICU mortality, complications (pneumothorax, ventilation-associated pneumonia).
DATA EXTRACTION AND SYNTHESIS
Two review authors assessed the titles and the abstracts for inclusion and reviewed the full texts independently.
RESULTS
We found no studies that fulfilled the inclusion criteria.
CONCLUSIONS
The absence of studies about different weaning protocols for patients with NMD does not allow concluding the superiority of any specific weaning protocol for patients with NMD or determining the impact of different types of protocols on other outcomes. The result of this review encourages further studies.
PROSPERO REGISTRATION NUMBER
CRD42019117393.
Topics: Adult; Child; Child, Preschool; Continuous Positive Airway Pressure; Humans; Intensive Care Units; Neuromuscular Diseases; Respiration, Artificial; Ventilator Weaning
PubMed: 34521661
DOI: 10.1136/bmjopen-2020-047449 -
Clinics in Chest Medicine Dec 2016Although precise numbers are difficult to obtain, the population of patients receiving long-term ventilation has increased over the last 20 years, and includes patients... (Review)
Review
Although precise numbers are difficult to obtain, the population of patients receiving long-term ventilation has increased over the last 20 years, and includes patients with chronic lung diseases, neuromuscular diseases, spinal cord injury, and children with complex disorders. This article reviews the equipment and logistics involved with ventilation outside of the hospital. Discussed are common locations for long-term ventilation, airway and secretion management, and many of the potential challenges faced by individuals on long-term ventilation.
Topics: Chronic Disease; Humans; Neuromuscular Diseases; Respiration, Artificial; Respiratory Insufficiency; Tracheostomy
PubMed: 27842754
DOI: 10.1016/j.ccm.2016.07.014