Search Results (51)

Background: Individuals with neuromuscular diseases (NMDs) have low physical activity levels and an increased risk of cardiovascular and pulmonary diseases. Respiratory gas kinetics obtained during cardiopulmonary exercise testing (CPET) may provide valuable insights into disease mechanisms and cardiorespiratory fitness in individuals with NMD. Recovery from exercise is an important marker of exercise performance and overall physical health, and impaired recovery is strongly associated with poor health outcomes. This study evaluates recovery metrics in individuals with NMD after performing maximal exertion during CPET. Methods: A total of 34 individuals with NMD and 15 healthy volunteers were recruited for the study. CPET was performed using a wearable metabolic system and a wheelchair-accessible total body trainer to peak exertion. Recovery metrics assessed were (i) the time to reach 50% O₂ recovery compared with peak exercise and (ii) the ratios of ventilation and respiratory gases between peak exercise and the highest values observed during recovery (overshoot). Results: The NMD group had a significantly longer time to reach 50% O₂ recovery (T1/2 VO₂: 105 ± 43.4 vs. 76 ± 36.4 s, p = 0.02), lower respiratory overshoot (17.1 ± 13.0% vs. 28.8 ± 9.03%), and lower ventilation/VO₂ (31.9 ± 28.3 vs. 52.2 ± 23.5) compared to the control group. Conclusions: This study observes significantly impaired recovery metrics following peak exercise in individuals with NMD compared to controls. These insights may improve the understanding of exercise recovery and mechanics, thus improving prognostication and optimizing exercise prescriptions for individuals with NMD. Full article

Neuromuscular disorders (NMDs), such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies (e.g., Duchenne muscular dystrophy, DMD), are primarily driven by genetic mutations but are critically modulated by epigenetic mechanisms such as DNA methylation, histone modifications, and noncoding RNA activity. These epigenetic processes contribute to phenotypic variability and disease progression, and emerging evidence suggests that environmental factors, particularly nutrition and exercise, may further influence the molecular pathways that modulate these diseases. Dietary bioactive compounds (e.g., polyphenols and omega-3 fatty acids) exhibit epigenetic modulatory properties, which could mitigate oxidative stress, inflammation, and muscle degeneration in NMDs. For example, the inhibition of DNMTs and HDACs by curcumin in ALS models and the promyogenic effects of green tea catechins in DMD suggest plausible, though still requiring investigation, therapeutic avenues. However, the clinical application of nutriepigenetic interventions is preliminary and requires further validation. This review examines the interaction of genetic and epigenetic factors in ALS, SMA, and muscular dystrophies, highlighting their combined role in the heterogeneity of these diseases. Integrative therapeutic strategies combining gene therapies, epigenetic modulators, and lifestyle interventions may offer a multidimensional approach to the management of NMD. A deeper understanding of these interactions will be essential for advancing precision medicine and improving patient outcomes. Full article

Background/Objectives: Oropharyngeal dysphagia (OD) is a prevalent symptom in patients with neuromuscular diseases (NMDs) and increases the risk of aspiration and malnutrition. Malnutrition is frequent in these patients and is not only related to dysphagia, but also generates a vicious circle that may result in worsening muscle atrophy and weakness. Texture modification is required to ensure safe and efficient swallowing. This study evaluates the acceptability of a ready-to-mix oral nutritional supplement (ONS) containing high-quality protein and a xanthan-based thickener in patients with OD and NMDs. Methods: This cross-sectional study includes adult patients with NMDs and OD who received a xanthan gum-based protein ONS. Patients completed a questionnaire to rate their satisfaction with the ONS. Results: Seventy-two patients were included (median age = 56 years; 51% were males). The percentage of patients with moderate-to-severe OD who rated the taste, consistency, and product quality as acceptable-to-very-satisfactory (score 3–5) were 76%, 80%, and 84%, respectively. After three months, 93% of patients continued consuming the ONS. Conclusions: Our findings support that the use of protein xanthan gum-based ONS can be as a palatable and an effective nutritional intervention, given their high satisfaction and acceptance rates among patients with NMDs and OD. Full article

Neuromuscular diseases (NMDs) encompass various hereditary conditions affecting motor neurons, the neuromuscular junction, and skeletal muscles. These disorders are characterized by progressive muscle weakness and can manifest at different stages of life, from birth to adulthood. NMDs, such as Duchenne and Becker muscular dystrophies, myotonic dystrophy, and limb–girdle muscular dystrophies, often involve cardiac complications, including cardiomyopathies and arrhythmias. Underlying genetic mutations contribute to skeletal and cardiac muscle dysfunction, particularly in the DMD, EMD, and LMNA genes. The progressive nature of muscle deterioration significantly reduces life expectancy, mainly due to respiratory and cardiac failure. The early detection of cardiac involvement through electrocardiography (ECG) and cardiac imaging is crucial for timely intervention. Pharmacological treatment focuses on managing cardiomyopathies and arrhythmias, with an emerging interest in gene therapies aimed at correcting underlying genetic defects. Heart transplantation, though historically controversial in patients with muscular dystrophies, is increasingly recognized as a viable option for individuals with advanced heart failure and moderate muscle impairment, leading to improved survival rates. Careful patient selection and management are critical to optimizing outcomes in these complex cases. Full article

Background: The accessibility of effective SMA (spinal muscular atrophy) treatment is resulting in a growing number of affected women reaching fertility age and deciding to conceive. Pregnancy in women with SMA is associated with a high risk of rapid progression of symptoms, including increased weakness, growing paresis, or even onset of respiratory failure requiring ventilation support. Muscle weakness frequently leads to disability, which in a high percentage is irreversible. Pre-term labor and delivery by cesarean section are the most commonly described cases in the literature. Methods: This paper aims to describe the first case in Europe, a 21-year-old patient treated with Nusinersen under the drug program during the third trimester of pregnancy. Despite the significant progression of the disease during pregnancy, the patient did not lose gait function. The pregnancy was ended at 33Hbd, and the baby’s condition was unremarkable. In addition to clinical data, this paper also discusses the economic aspects. Conclusions: Thanks to the rapid initiation of treatment, the patient did not lose her ability to walk, and a significant improvement in motor function was observed after the postpartum period. No side effects or negative effects on the fetus were observed. Full article

Background: Neuromuscular diseases (NMDs) are rare, predominantly hereditary, with progressive course disorders. Furthermore, diagnosis can be delayed by years after symptoms emerge, resulting in missed opportunities for modifying disease progression, specific therapeutic approaches, and counseling. Some NMDs have high levels of creatine phosphokinase (CK). Thus, its measurement can indicate an NMD associated with muscle involvement. Objectives: We aimed to identify myopathies and muscular dystrophies through elevated CK levels for early detection of these disorders. Methods: A prospective, observational, and analytical study of children and teenagers showing high levels of CK, showing mild symptoms, or who were asymptomatic with elevation of transaminases from all pediatric units in the north of Portugal was performed. All diagnosed patients were referred to our Center for Neuromuscular Diseases. Additionally, CK level confirmation, clinical examination, and investigation were performed according to best-practice clinical guidelines. Results: We found 33 patients from 8/12 pediatric units. A diagnosis with implications for care measures and treatment was performed in half of the patients. A total of 30% presented an NMD diagnosis. Dystrophinopathies represented the largest group (21%). Conclusions: Therefore, NMDs should be considered in children and teenagers with high CK levels, even those with mild symptoms. Screening for CK elevation should be used to promote an earlier diagnosis of many NMDs. Full article

Neuromuscular disorders (NMDs) encompass a broad range of hereditary and acquired conditions that affect motor units, significantly impacting patients’ quality of life and reproductive health. This narrative review aims to explore in detail the reproductive challenges associated with major hereditary NMDs, including Charcot–Marie–Tooth disease (CMT), dystrophinopathies, Myotonic Dystrophy (DM), Facioscapulohumeral Muscular Dystrophy (FSHD), Spinal Muscular Atrophy (SMA), Limb–Girdle Muscular Dystrophy (LGMD), and Amyotrophic Lateral Sclerosis (ALS). Specifically, it discusses the stages of diagnosis and genetic testing, recurrence risk estimation, options for preimplantation genetic testing (PGT) and prenatal diagnosis (PND), the reciprocal influence between pregnancy and disease, potential obstetric complications, and risks to the newborn. Full article

Magnesium (Mg) is a vital element for various metabolic and physiological functions in the human body, including its crucial role in skeletal muscle health. Hypomagnesaemia is frequently reported in many muscle diseases, and it also seems to contribute to the pathogenesis of skeletal muscle impairment in patients with neuromuscular diseases. The aim of this scoping review is to analyze the role of Mg in skeletal muscle, particularly its biological effects on muscle tissue in neuromuscular diseases (NMDs) in terms of biological effects and clinical implications. This scoping review followed the PRISMA-ScR (Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews) guidelines. From the 305 studies identified, 20 studies were included: 4 preclinical and 16 clinical studies. Preclinical research has demonstrated that Mg plays a critical role in modulating pathways affecting skeletal muscle homeostasis and oxidative stress in muscles. Clinical studies have shown that Mg supplementation can improve muscle mass, respiratory muscle strength, and exercise recovery and reduce muscle soreness and inflammation in athletes and patients with various conditions. Despite the significant role of Mg in muscle health, there is a lack of research on Mg supplementation in NMDs. Given the potential similarities in pathogenic mechanisms between NMDs and Mg deficiency, further studies on the effects of Mg supplementation in NMDs are warranted. Overall, maintaining optimal Mg levels through dietary intake or supplementation may have important implications for improving muscle health and function, particularly in conditions associated with muscle weakness and atrophy. Full article

Background/Objectives: Increasing evidence shows an involvement of brain plasticity mechanisms in both motor and central manifestations of neuromuscular disorders (NMDs). These mechanisms could be specifically addressed with neuromodulation or rehabilitation protocols. The aim of this scoping review is to summarise the evidence on plasticity mechanisms’ involvement in NMDs to encourage future research. Methods: A scoping review was conducted searching the PubMed and Scopus electronic databases. We selected papers addressing brain plasticity and central nervous system (CNS) studies through non-invasive brain stimulation techniques in myopathies, muscular dystrophies, myositis and spinal muscular atrophy. Results: A total of 49 papers were selected for full-text examination. Regardless of the variety of pathogenetic and clinical characteristics of NMDs, studies show widespread changes in intracortical inhibition mechanisms, as well as disruptions in glutamatergic and GABAergic transmission, resulting in altered brain plasticity. Therapeutic interventions with neurostimulation techniques, despite being conducted only anecdotally or on small samples, show promising results; Conclusions: despite challenges posed by the rarity and heterogeneity of NMDs, recent evidence suggests that synaptic plasticity may play a role in the pathogenesis of various muscular diseases, affecting not only central symptoms but also strength and fatigue. Key questions remain unanswered about the role of plasticity and its potential as a therapeutic target. As disease-modifying therapies advance, understanding CNS involvement in NMDs could lead to more tailored treatments. Full article

Background/Objectives: High-precision measurement tools are needed to measure relevant changes in strength and power in children with neuromuscular diseases. The aim of this study was to determine the feasibility (i), reproducibility (ii), and validity (iii) of isokinetic dynamometry in this population. Methods: Isometric and isokinetic knee and elbow flexion and extension were measured twice on the same day. Feasibility was based on completion rate and acceptability. Acceptability was measured with a 100 mm visual analog scale. We measured reproducibility as the intraclass correlation coefficient (ICC-agreement), standard error of measurement (SEM), and smallest detectable change (SDC). We investigated relationships between isometric strength and isokinetic power with Pearson’s correlation coefficient. ROC curves were used to determine the cutoff of isometric strength to conduct isokinetic measurements. Results: Fifty children with NMDs participated with completion rates of 78–90% for isometric and 39–75% for isokinetic measurements. Acceptability was high (mean (SD) = 73 (19) mm). The ICCs for all measurements were over 0.9 (95% confidence interval (CI) = 0.932–0.998). The SEM% ranged from 5 to 14% and the SDC% from 14 to 28%. The correlations of strength and power were high (Pearson’s correlation coefficient >0.9 (95% CI: 0.89–0.98)). The isometric strength needed to conduct isokinetic measurements ranged from 11.1 N in elbow flexors to 24.9 N in knee extensors. Conclusions: Isokinetic dynamometry is a feasible and reproducible method for measuring isometric strength in children with neuromuscular diseases with moderate weakness to normal strength, and isokinetic measurements are only feasible in knee extension for children with moderate weakness to normal strength. The convergent validity between isometric strength and power at low velocities is high. Full article

Neuromuscular diseases (NMD) cover a broad spectrum of different rare diagnoses in which the primary lesion is in the peripheral nervous system. The impairment caused by an NMD does not only interfere with physical status but also has a clear impact on health-related quality of life (HRQoL). It is therefore essential to know the coping style used by these patients. This study aims to analyze the coping strategies in a sample of people with NMD and how their coping style affects their HRQoL. This cross-sectional study included 61 adult patients diagnosed with a rare NMD. WHO-DAS II, SIP, SF-36, and COPE-60 instruments were administered. The results showed that people affected by NMDs tend to use more frequent coping strategies such as active planning, personal growth, and acceptance. In contrast, the least-used strategies were restraint, mental disengagement, venting, humor, and religion, which affected HRQoL negatively. Moreover, the degree of disability was a relevant variable, with an impact on HRQoL. Social support can be considered the main coping strategy that leads to an improvement in the psychosocial HRQoL (β = 503, p < 0.001). These findings are relevant to clinical practice, given the need to understand the coping variable to improve HRQoL. Full article

Background: Quantitative muscle MRI (qMRI) is a promising tool for evaluating and monitoring neuromuscular disorders (NMD). However, the application of different imaging protocols and processing pipelines restricts comparison between patient cohorts and disorders. In this qMRI study, we aim to compare dystrophic (limb-girdle muscular dystrophy), inflammatory (inclusion body myositis), and metabolic myopathy (Pompe disease) as well as patients with post-COVID-19 conditions suffering from myalgia to healthy controls. Methods: Ten subjects of each group underwent a 3T lower extremity muscle MRI, including a multi-echo, gradient-echo, Dixon-based sequence, a multi-echo, spin-echo (MESE) T2 mapping sequence, and a spin-echo EPI diffusion-weighted sequence. Furthermore, the following clinical assessments were performed: Quick Motor Function Measure, patient questionnaires for daily life activities, and 6-min walking distance. Results: Different involvement patterns of conspicuous qMRI parameters for different NMDs were observed. qMRI metrics correlated significantly with clinical assessments. Conclusions: qMRI metrics are suitable for evaluating patients with NMD since they show differences in muscular involvement in different NMDs and correlate with clinical assessments. Still, standardisation of acquisition and processing is needed for broad clinical use. Full article

Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of SORD-neuropathy, HADHB-related disease, ATXN2-ALS, MECP2 related progressive gait decline and spasticity, and DNMT1-related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs. Full article

The existing literature has explored carpal tunnel syndrome (CTS) and determined that it could be a risk for coronary artery disease (CAD), but there has been little research comparing the relevance of CAD with other neuromuscular disorders (NMDs) to CTS. This case–control study explored the association between CTS, stenosing tenosynovitis (ST), and ulnar side NMDs and CAD. The study utilized data from Taiwan’s National Health Insurance Research Database, focusing on health insurance claims. Between January 2000 and December 2011, we employed the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) diagnostic codes to identify 64,025 CAD patients as the case group. The control group consisted of an equal number of individuals without CAD, matched for age, sex, and index year of CAD. Logistic regression analysis was employed to calculate the odds ratios (ORs) and 95% confidence intervals (CIs) for each variable. Multivariate analysis, after adjusting for sociodemographic factors and comorbidities, revealed a significantly higher likelihood of a previous diagnosis of CTS in the CAD group compared to the comparison control group. However, neither ST nor the ulnar side NMDs had any statistical significance. These results indicated that median nerve injury, rather than other NMDs, may uniquely serve as a predisposing factor of CAD. Full article

Background: Quarantine was one of the strategies adopted by governments against the spread of COVID-19. This restriction has caused an increase in sedentary behaviors and a decrease in the practice of physical activity (PA), with a consequent negative impact on lifestyle both in healthy people and in those who need constant practice of PA to combat diseases, such as patients suffering from neuromuscular diseases (NMDs). Hence, this study aimed to compare PA levels among patients with NMD during and after quarantine. Methods: An adapted version of the International Physical Activity Questionnaire Short-Form and the Short-Form Health Survey were administered during COVID-19 quarantine (T0) and after 3 years (T1) to 91 Italian patients with NMDs. Results: We found a significant increase in the total PA level at T1, with no significant changes in vigorous-intensity PA. Moreover, a significant decrease in the PA level was found among the patients with different NMDs. No significant changes in physical component scores and mental component scores were detected. Conclusions: Our results suggest that it would be necessary to provide alternative indoor exercise settings to prevent the adoption of sedentary behaviors. Full article