Neuromuscular disorders (NMDs) are a heterogeneous group of conditions characterized by progressive muscle weakness, motor impairment and risk of malnutrition, affecting the quality of life (QoL) of patients. While pharmacological treatments are essential for the management of symptoms, the role of diet, nutrition and other lifestyle factors remains underexplored. This narrative systematic review, performed on PubMed, Web of Science, and Scopus following PRISMA guidelines, aimed to investigate the relationship between lifestyle, the progression of NMDs and the QoL. A total of 30 studies (n=5055 patients) met inclusion criteria. According to our search strategy, the most representative lifestyle factors were diet (70%), physical activity (53.3%) and emotional perception and care (36.7%); 7 papers (23.3%) evaluated three or more lifestyle aspects. Overall, both quantitative and qualitative deficiencies emerged: calories, proteins, lipids and fibres, as well as vitamin C, vitamin E, zinc, selenium and calcium were lower than recommended. A reduced consumption of fruits, vegetables, legumes, nuts and seeds, replaced by ultra-processed foods, was detected. Diets optimised for calorie and nutrients intake, rich in anti-inflammatory foods, have shown benefits both in mitigating oxidative stress and muscle degeneration. Regarding other aspects of lifestyle, although physical activity was associated with improved motor performance and QoL, adherence was low, particularly among females. Negative emotional status emerged as a critical factor influencing patients’ overall well-being. Even in the most complex neuromuscular disease settings, addressing nutrition and dietary habits, in the context of lifestyle, could support patients and their families throughout the disease course and improve their QoL.

Successful management of focal spasticity requires access to botulinum toxin type A (BoNT-A) injections, physiotherapy, occupational therapy, and orthoses/bracing. To assess the quality of focal spasticity care across Canada, we sent a survey consisting of 22 questions to physiatrists involved in the management of outpatient spasticity. Thirty-four physiatrists from all 10 provinces responded to the survey. Wait time for BoNT-A treatment averaged 12.7 weeks from time of referral across Canada. More than 75% of patients faced barriers to obtaining physical therapy and orthoses. Access to best quality care for spasticity patients across Canada varies widely.

Advances in high-resolution ultrasound have provided clinicians with unique opportunities to study diseases of the peripheral nervous system. Ultrasound complements the clinical and electrophysiology exam by showing the degree of abnormalities in myopathies, as well as spontaneous muscle activities in motor neuron diseases and other disorders. In experienced hands, ultrasound is more sensitive than MRI in detecting peripheral nerve pathologies. It can also guide needle placement for electromyography exam, therapeutic injections, and muscle biopsy. Ultrasound enhances the ability to detect carpal tunnel syndrome and other focal nerve entrapment, as well as pathological nerve enlargements in genetic and acquired neuropathies. Furthermore, ultrasound can potentially be used as a biomarker for muscular dystrophy and spinal muscular atrophy. The combination of electromyography and ultrasound can increase the diagnostic certainty of amyotrophic lateral sclerosis, aid in the localization of brachial plexus or peripheral nerve trauma and allow for surveillance of nerve tumor progression in neurofibromatosis. Potential limitations of ultrasound include an inability to image deeper structures, with lower sensitivities in detecting neuromuscular diseases in young children and those with mitochondrial myopathies, due to subtle changes or early phase of the disease. As well, its utility in detecting critical illness neuromyopathy remains unclear. This review will focus on the clinical applications of neuromuscular ultrasound. The diagnostic values of ultrasound for screening of myopathies, neuropathies, and motor neuron diseases will be presented.

Background: Preliminary studies have supported the utility of exercise as a treatment for Charcot–Marie–Tooth disease (CMT) patients. Despite being the most common inherited neuropathy, there remains a paucity of guidelines for CMT management. Methods: A retrospective chart review was performed on 297 CMT patients. Self-reported exercise and strength results from standardized dynamometer testing were obtained from adult patients’ first visits. Values were converted and analyzed based on previously reported age- and sex-matched normative values. Results: Participants with CMT2 had greater strength values than those with CMT1 in hand grip, elbow flexion, and dorsiflexion (p<0.05). Participants with CMT1 and CMT2 who exercised were statistically significantly stronger in elbow flexion and dorsiflexion than those who did not exercise. Conclusions: These preliminary results suggest that self-directed exercise is associated with greater strength in CMT patients of both CMT1 and CMT2 subtypes. Self-directed exercise may be a convenient, sustainable, and effective method of improving strength and decreasing disability in this population. Future research should explore the type of exercise prescription that best addresses the needs of the CMT population.

Background: Myotonic dystrophy type 1 is an autosomal dominant condition affecting distal hand strength, energy, and cognition. Increasingly, patients and families are seeking information online. An online neuromuscular patient portal under development can help patients access resources and interact with each other regardless of location. It is unknown how individuals living with myotonic dystrophy interact with technology and whether barriers to access exist. We aimed to characterize technology use among participants with myotonic dystrophy and to determine whether there is interest in a patient portal. Methods: Surveys were mailed to 156 participants with myotonic dystrophy type 1 registered with the Canadian Neuromuscular Disease Registry. Results: Seventy-five participants (60% female) responded; almost half were younger than 46 years. Most (84%) used the internet; almost half of the responders (47%) used social media. The complexity and cost of technology were commonly cited reasons not to use technology. The majority of responders (76%) were interested in a myotonic dystrophy patient portal. Conclusions: Patients in a Canada-wide registry of myotonic dystrophy have access to and use technology such as computers and mobile phones. These patients expressed interest in a portal that would provide them with an opportunity to network with others with myotonic dystrophy and to access information about the disease.