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The diagnosis of lumbosacral radiculopathy includes the exclusion of common musculoskeletal conditions that can cause similar symptoms. Neurology and physiatry physicians use history taking and physical examination findings to develop a differential diagnosis. Appropriate diagnostic testing is then utilized to narrow down this differential diagnosis to determine a working hypothesis of the cause of a patient's symptoms, leading to a treatment plan. There are stark limitations of patient symptoms and physical examination findings in making the diagnosis of lumbosacral radiculopathy and added value of a combination of symptoms and signs to distinguish patients with lumbosacral radiculopathy from patients with mimic disorders. Diagnostic tests have variable strengths and limitations in helping to confirm this diagnosis, contrasting the high sensitivity and lower specificity of magnetic resonance imaging (MRI) with the high specificity but lower sensitivity of electromyography (EMG). Further complexity is added to the task of making a diagnosis and setting a treatment plan by the fact that these disorders are common and interact with each other; they are present concomitantly in up to 25% of patients presenting for electrodiagnostic evaluation. A companion paper will review common musculoskeletal mimics of lumbosacral radiculopathy and provide tools to anchor testing for those conditions to the traditional neurological evaluation of lumbosacral radiculopathy. [ABSTRACT FROM AUTHOR]

Limb‐girdle muscular dystrophies (LGMDs) constitute a diverse group of inherited disorders primarily affecting skeletal muscle. Despite the absence of cures, rehabilitative treatments offer potential for preventing and mitigating loss of muscle strength. However, the role of exercise training in LGMD patients remains contentious. This review aims to provide an overview of the currently available motor rehabilitation strategies for the most common subtypes of LGMD. To identify relevant articles, we performed a systematic search in PubMed, Embase, Cochrane Library, and Web of Science, focusing on muscular and respiratory interventions. The search resulted in 560 potentially relevant articles, of which 16 were included in the review. Eight studies concentrated on neuromuscular functional rehabilitation therapy programs, seven combined both neuromuscular rehabilitation and interventions to maintain or enhance respiratory functionality and one focused on respiratory intervention only. Altogether, the papers examined offered a comprehensive view on the rehabilitative strategies available and provided an indication of the most valuable practices to deal with patients' health and needs. Upon analysis, we conclude that, when tailored to individual needs, muscle training can enhance strength and functional abilities, positively impacting psychological well‐being. However, generic protocols may lead to limited benefits, fatigue, pain, and compliance issues. Moreover, early management of respiratory symptoms and personalized respiratory physiotherapy can enhance patients' well‐being and their capability to participate in muscle training exercises. Future studies should not only refine rehabilitation approaches but also assess their impact on patients' quality of life, including psychological factors like depression and self‐esteem. [ABSTRACT FROM AUTHOR]

Introduction/Aims: Severe spinal deformities and previous spinal orthopedic instrumentation may result in substantial technical challenges for nusinersen delivery through lumbar puncture in patients with spinal muscular atrophy (SMA). The aim of this paper was to review our experience with ultrasound‐guided cervical puncture as an alternative approach for the intrathecal administration of nusinersen. Methods: This was a retrospective medical record review of transverse interlaminar ultrasound‐guided C1‐C2 puncture for nusinersen delivery in SMA patients. The details of puncture, complications, and success rate of the procedure were summarized. Results: There were four patients who received a total of 13 cervical punctures for nusinersen delivery. All procedures were technically successful with no major complications. Full doses of nusinersen were delivered intrathecally. Discussion: Transverse interlaminar ultrasound‐guided C1‐C2 puncture is an alternative approach for administering nusinersen if lumbar puncture fails. The success of the technique requires a thorough preprocedural evaluation of cervical spine imaging, sound knowledge of the cervical sonoanatomy and careful manipulation of the needle. [ABSTRACT FROM AUTHOR]

Introduction/Aims: The impact of treatment expectations on active treatment outcomes has not been specifically investigated in neuromuscular disorders. We thus explored in myasthenia gravis (MG) the contribution of patients' pre‐treatment expectations combined with an immunosuppressant drug on treatment outcomes. Methods: This pilot correlational study involved 17 patients with generalized MG, scheduled to start immunosuppressant azathioprine. At baseline, a healthcare professional administered: (i) the Stanford Expectations of Treatment Scale; (ii) a structured checklist paper form asking patients which side‐effects they expected to develop after starting azathioprine, coupled with a standardized framing of statements. Quantitative Myasthenia Gravis (QMG) score and daily dose of concomitant drugs were assessed by neurologists as clinical outcomes. Clinical outcomes and side‐effects were re‐assessed at 3 and 6 months, and clinical outcomes were monitored at 18 months. Results: Clinically significant improvement in the QMG scores was achieved at 3 or 6 months. The level of state anxiety appeared to act as moderator of pre‐treatment negative expectations (strong, positive, indicative correlation, rs =.733, p =.001). The latter were, in turn, associated with the fulfillment of side‐effects that patients expected to develop with the new treatment (moderate, positive, indicative correlation, rs =.699, p =.002). No significant correlation emerged between positive and negative expectations. Discussion: Our findings show a very quick clinical response and also suggest that patients' expectations and anxiety contributed to treatment outcomes, highlighting the importance of promoting safety messages and education strategies around newly introduced treatments. Future goals include evaluating a larger cohort that includes a matched control group. [ABSTRACT FROM AUTHOR]

Electrodiagnostic studies (EDx) are frequently performed in the diagnostic evaluation of peripheral nerve disorders. There is increasing interest in the use of newer, alternative diagnostic modalities, in particular imaging, either to complement or replace established EDx protocols. However, the evidence to support this approach has not been expansively reviewed. In this paper, diagnostic performance data from studies of EDx and other diagnostic modalities in common peripheral nerve disorders have been analyzed and described, with a focus on radiculopathy, plexopathy, compressive neuropathies, and the important neuropathy subtypes of Guillain‐Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), vasculitic neuropathy and diabetic neuropathy. Overall EDx retains its place as a primary diagnostic modality in the evaluated peripheral nerve disorders. Magnetic resonance imaging and ultrasound have developed important complementary diagnostic roles in compressive and traumatic neuropathies and atypical CIDP, but their value is more limited in other neuropathy subtypes. Identification of hourglass constriction in nerves of patients with neuralgic amyotrophy may have therapeutic implications. Investigation of radiculopathy is confounded by poor correlation between clinical features and imaging findings and the lack of a diagnostic gold standard. There is a need to enhance the literature on the utility of these newer diagnostic modalities. [ABSTRACT FROM AUTHOR]

There is a great demand for accurate non‐invasive measures to better define the natural history of disease progression or treatment outcome in Duchenne muscular dystrophy (DMD) and to facilitate the inclusion of a large range of participants in DMD clinical trials. This review aims to investigate which MRI sequences and analysis methods have been used and to identify future needs. Medline, Embase, Scopus, Web of Science, Inspec, and Compendex databases were searched up to 2 November 2019, using keywords "magnetic resonance imaging" and "Duchenne muscular dystrophy." The review showed the trend of using T1w and T2w MRI images for semi‐qualitative inspection of structural alterations of DMD muscle using a diversity of grading scales, with increasing use of T2map, Dixon, and MR spectroscopy (MRS). High‐field (>3T) MRI dominated the studies with animal models. The quantitative MRI techniques have allowed a more precise estimation of local or generalized disease severity. Longitudinal studies assessing the effect of an intervention have also become more prominent, in both clinical and animal model subjects. Quality assessment of the included longitudinal studies was performed using the Newcastle‐Ottawa Quality Assessment Scale adapted to comprise bias in selection, comparability, exposure, and outcome. Additional large clinical trials are needed to consolidate research using MRI as a biomarker in DMD and to validate findings against established gold standards. This future work should use a multiparametric and quantitative MRI acquisition protocol, assess the repeatability of measurements, and correlate findings to histologic parameters. [ABSTRACT FROM AUTHOR]

Introduction/Aims: Previous papers on ultrasound (US)‐guided delivery of nusinersen in patients with spinal muscle atrophy (SMA) described good results with translaminar approach. However, this approach is not possible in patients with spinal fusion and no visible interlaminar space on pre‐procedural computed tomography (CT). US‐guided transforaminal nusinersen delivery is a potential option that warrants investigation. Methods: Twenty adult SMA patients with challenging access were treated in our institution under cone beam CT (CBCT) guidance. The patients were already in the maintenance phase of the dosing protocol and were prospectively evaluated for US‐guided transforaminal approach. After they completed one injection via US‐guided transforaminal approach, success and safety of the approach were analyzed. Patients shared their experience on US‐guided in comparison to CBCT‐guided injections. Results: US‐guided transforaminal puncture was possible in 14 (70.0%) patients, although 2 of them required needle repositioning under fluoroscopy due to inadvertent access of a prominent vein. US‐guided transforaminal approach was therefore successful in 60% of patients. Mild adverse events were recorded in four patients. The survey on patients' experience showed that seven reported no difference in the two approaches, six preferred the US‐guided procedure, and one preferred the CBCT‐guided procedure. Discussion: US‐guided transforaminal lumbar approach is an effective and safe method of intrathecal nusinersen delivery in adult SMA patients with challenging spinal access and could be considered the first option in appropriately selected adult SMA patients requiring transforaminal nusinersen delivery. [ABSTRACT FROM AUTHOR]

Bulbar dysfunction is a common presentation of amyotrophic lateral sclerosis (ALS) and significantly impacts quality of life of people with ALS (PALS). The current paper reviews measurements of dysarthria and dysphagia specific to ALS to identify efficient and valid assessment measures. Using such assessment measures will lead to improved management of bulbar dysfunction in ALS. Measures reviewed for dysarthria in PALS are organized into three categories: acoustic, kinematic, and strength. A set of criteria are used to evaluate the effectiveness of the measures' identification of speech impairments, measurement of functional verbal communication, and clinical applicability. Assessments reviewed for dysphagia in PALS are organized into six categories: patient reported outcomes, dietary intake, pulmonary function and airway defense capacity, bulbar function, dysphagia/aspiration screens, and instrumental evaluations. Measurements that have good potential for clinical use are highlighted in both topic areas. Additionally, areas of improvement for clinical practice and research are identified and discussed. In general, no single speech measure fulfilled all the criteria, although a few measures were identified as potential diagnostic tools. Similarly, few objective measures that were validated and replicated with large sample sizes were found for diagnosis of dysphagia in PALS. Importantly, clinical applicability was found to be limited; thus, a collaborative team focused on implementation science would be helpful to improve the clinical uptake of assessments. Overall, the review highlights the need for further development of clinically viable and efficient measurements that use a multidisciplinary approach. [ABSTRACT FROM AUTHOR]

Introduction/Aims: Telemedicine may be particularly well‐suited for myasthenia gravis (MG) due to the disorder's need for specialized care, its hallmark fluctuating muscle weakness, and the potential for increased risk of virus exposure among patients with MG during the coronavirus disease 2019 (COVID‐19) pandemic during in‐person clinical visits. A disease‐specific telemedicine physical examination to reflect myasthenic weakness does not currently exist. Methods: This paper outlines step‐by‐step guidance on the fundamentals of a telemedicine assessment for MG. The Myasthenia Gravis Core Exam (MG‐CE) is introduced as a MG‐specific, telemedicine, physical examination, which contains eight components (ptosis, diplopia, facial strength, bulbar strength, dysarthria, single breath count, arm strength, and sit to stand) and takes approximately 10 minutes to complete. Results: Pre‐visit preparation, remote ascertainment of patient‐reported outcome scales and visit documentation are also addressed. Discussion: Additional knowledge gaps in telemedicine specific to MG care are identified for future investigation. See Editorial on pages 241–242 in this issue. [ABSTRACT FROM AUTHOR]

One of the seminal events in the history of neurology was the identification of primary diseases of muscle and their separation from diseases in which muscle weakness was secondary to injury involving the anterior horns of the spinal cord (“progressive muscular atrophy”). Not surprisingly, one of the first groups of primary muscle diseases to be satisfactorily characterized belonged to what would today be classified as muscular dystrophies. Pride of place in this group belongs to Duchenne muscular dystrophy (DMD). DMD's primacy as the first well-characterized muscular dystrophy was due both to the fact that it is relatively common, as well as to the clinically striking feature, apparent in many cases, of apparent paradoxical enlargement of severely weakened muscles (“pseudo-hypertrophy”). This review traces the historical roots of DMD in the 19th century, from the early papers by Conte, Bell, Partridge, and Meryon through the classic monographs by Duchenne and Gowers. In addition, the first American contributions to DMD are reviewed, including those by Pepper, Hammond, and S. Weir Mitchell. Many of the original papers describing this disease are now unavailable outside of major medical libraries, and several important contributions, excepting those of Duchenne, which are recognized eponymously, are now virtually forgotten. Muscle Nerve 28: 402–422, 2003 [ABSTRACT FROM AUTHOR]

As we complete another volume of the journal, it is again time to express my gratitude to all of the individuals who have volunteered their time and expertise to serve as peer reviewers. These colleagues have reviewed papers of the past 6 months, and I hope that the list that follows is complete. We have called on some of these individuals multiple times to do reviews, and I am impressed that the reviews are thorough, thoughtful, and helpful to the authors (and the editors). Authors frequently express gratitude to the reviewers for their suggestions that have improved the clarity and accuracy of their papers, and I know that I frequently learn from the reviews. On behalf of all of the editorial staff, I thank each of the individuals on the list for helping to improve the journal. [ABSTRACT FROM AUTHOR]

Previous resistance training (RT) recommendations and position stands have addressed variables that can be manipulated when producing RT interventions. However, 1 variable that has received little discussion is set endpoints (i.e., the endpoint of a set of repetitions). Set endpoints in RT are often considered to be proximity to momentary failure and are thought to be a primary variable determining effort in RT. Further, there has been ambiguity in the use and definition of terminology that has created issues in interpretation of research findings. The purpose of this paper was to: (1) provide an overview of the ambiguity in historical terminology around set endpoints; (2) propose a clearer set of definitions related to set endpoints; and (3) highlight the issues created by poor terminology and definitions. It is hoped this may permit greater clarity in reporting, interpretation, and application of RT interventions for researchers and practitioners. Muscle Nerve 56: 368-374, 2017. [ABSTRACT FROM AUTHOR]

Introduction: Sporadic inclusion body myositis (sIBM) is a progressive idiopathic inflammatory myopathy characterized by atrophy and weakness of proximal and distal muscle groups that results in a loss of independence and the need for assistive devices and supportive care. To assess treatment benefit of new therapies, a patient-reported outcome measure of physical function was developed.Methods: The tool was rigorously developed in accordance with the United States Food and Drug Administration (FDA) patient-reported outcomes (PRO) guidance. A single-visit, observational study was conducted. Standard qualitative analytical methods were employed to analyze interview data and generate questionnaire items.Results: Twenty concept elicitation and 19 cognitive debriefing interviews were conducted, and 6 expert physicians were consulted. The tool consists of 11 items scored on a 0-10 numerical rating scale. Subjects completed the questionnaire utilizing either paper or electronic administration.Conclusion: We have developed a PRO tool in alignment with FDA PRO guidance for use in the functional assessment of treatment benefit in sIBM. Muscle Nerve, 2016 Muscle Nerve 54: -, 2016 Muscle Nerve 54: 653-657, 2016. [ABSTRACT FROM AUTHOR]

In this paper we revisit a topic originally discussed in 1955, namely the lack of direct evidence that muscle hypertrophy from exercise plays an important role in increasing strength. To this day, long-term adaptations in strength are thought to be primarily contingent on changes in muscle size. Given this assumption, there has been considerable attention placed on programs designed to allow for maximization of both muscle size and strength. However, the conclusion that a change in muscle size affects a change in strength is surprisingly based on little evidence. We suggest that these changes may be completely separate phenomena based on: (1) the weak correlation between the change in muscle size and the change in muscle strength after training; (2) the loss of muscle mass with detraining, yet a maintenance of muscle strength; and (3) the similar muscle growth between low-load and high-load resistance training, yet divergent results in strength. Muscle Nerve 54: 1012-1014, 2016. [ABSTRACT FROM AUTHOR]