Fasciculations can be symptomatic, yet not progress to amyotrophic lateral sclerosis (ALS), a condition categorized as benign fasciculation syndrome (BFS). We aimed to assess electrodiagnostic changes and clinical course over time in patients with BFS.

See article on pages 428–434 in this issue

See article on pages 483–487 in this issue

Recent development of novel therapies has improved mobility and quality of life for people suffering from inheritable neuromuscular disorders. Despite this progress, the majority of neuromuscular disorders are still incurable, in part due to a lack of predictive models of neuromuscular junction (NMJ) breakdown. Improvement of predictive models of a human NMJ would be transformative in terms of expanding

Neurophysiological patterns in patients with foodborne botulism are rarely described after the acute phase. We report data from a large Italian outbreak of botulism, with patients evaluated at different timepoints after poisoning.

There is considerable heterogenicity in clinical outcomes in Duchenne muscular dystrophy (DMD). The aim of this study was to assess whether dystrophin gene (DMD) pathogenic variant location influences upper or lower extremity motor function outcomes in a large prospective cohort.

Patients with neuromuscular disorders (NMDs), including many elderly, immunosuppressed, and disabled individuals, may have been particularly affected during the coronavirus disease 2019 (COVID-19) pandemic in Lombardy, a COVID-19 high-incidence area between February and May 2020. We aimed to evaluate the effects of the COVID-19 pandemic on the quality of life (QoL) and perceived disease burden of this

There are currently three medications approved for spinal muscular atrophy (SMA), but the use of these medications in combination has not been well described.

Anti–3-hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMGCR) myopathy is a rare but serious complication of statin use. The aim of this study was to describe the imaging features of statin-associated anti-HMGCR myopathy on thigh muscle magnetic resonance imaging (MRI).

Perampanel, a selective noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) antagonist, is capable of slowing the progression of the amyotrophic lateral sclerosis (ALS) phenotype and increasing the number of anterior horn cells in transgenic mice. Trials of perampanel in epilepsy showed a favorable tolerability profile. In this study we aimed to determine the tolerability and

Approximately 16,000 persons in the United States are affected by amyotrophic lateral sclerosis (ALS).1 Persons with ALS (PALS) have distinctive pathophysiological risks and health determinants that may increase their vulnerability for infection with severe-acute-respiratory-syndrome-associated-coronavirus (SARS-CoV-2) and severe Coronavirus-2019 (COVID-19) outcome.2, 3 Data on the prevalence and impact

A 55-year-old woman was admitted to the hospital with unstable gait followed by four-limb weakness with lower limb predominance. Several days before the onset of neurological symptoms, she developed mild respiratory symptoms, generalized myalgias without fever, and an episode of diarrhea. On initial examination, she demonstrated moderate weakness mainly affecting the lower limbs (she could stand but

For cubital tunnel syndrome, the avoidance of predisposing arm positions and the use of elbow splints are common conservative treatment options. The rationale is to prevent excessive stretching and compression of the nerve in the cubital tunnel, as this mechanical stress impedes intraneural perfusion. Data regarding those upper extremity postures to avoid, or whether elbow flexion alone is detrimental

Hands-on supervised training is essential for learning diagnostic ultrasound. Unfortunately, the coronavirus disease 2019 (COVID-19) pandemic led to suspension of in-person training courses. As a result, many hands-on training courses were converted into virtual courses during the pandemic. Several reports regarding virtual ultrasound courses exist, but none has addressed virtual neuromuscular ultrasound

The variables affecting reference compound muscle (CMAP) and sensory nerve (SNAP) action potential amplitudes as compared to ones affecting conduction velocities and distal latencies have not been adequately evaluated in previous studies. In this report, this subject is studied in healthy subject cohorts mainly of Northern European extraction, Northern Plains Indians, and Latinos.

In this study, researchers evaluated the effects of lung volume recruitment treatment (LVR) – a low-tech, low-cost, manual ‘breath stacking’ technique used to help people cough with enough force to clear their airways, thereby reducing the risk of aspiration and choking – on five volitional airway clearance and protection behaviors used by people living with amyotrophic lateral sclerosis (PwALS).

Patients with acute motor axonal neuropathy (AMAN) generally have pure motor neuropathy and clinicians usually do not link pain with AMAN. The aim of this retrospective study was to describe the character, location, and intensity of pain in AMAN and acute inflammatory demyelinating polyneuropathy (AIDP) in the acute phase.

Glucocorticoid-induced osteoporosis with vertebral fractures is frequent in patients with Duchenne muscular dystrophy (DMD). In this study, we evaluated the effects of oral bisphosphonate (BP) therapy on the prevalence and severity of vertebral fractures by vertebral morphometry assessment.

As life expectancy improves for patients with Duchenne muscular dystrophy (DMD), new symptoms are likely to arise. This aims of this study are: (1) to explore the prevalence of a broad variety of symptoms in the various stages of DMD (with and without steroid use); (2) to explore the prevalence of common secondary diagnoses; and (3) to evaluate the social participation level of patients with DMD older

Klf10 is a member of the Krüppel-like family of transcription factors which is implicated in mediating muscle structure (fiber size, organization of the sarcomere), muscle metabolic activity (respiratory chain) and passive force. The aim of this study was to further characterize the roles of Klf10 in the contractile properties of skeletal muscle fibers.

Both neuromuscular junction (NMJ) dysfunction and altered electrophysiological properties of muscle fibers have been reported in amyotrophic lateral sclerosis (ALS) patients. ALS-related pre-clinical studies typically use rodent SOD1G93A overexpression models, but translation to the human disease has been challenged. The present work explored NMJ function and cellular electrophysiological properties

Spinal muscular atrophy (SMA) type III is a relatively mild form of SMA. Few studies have investigated the changes in both respiratory and upper limb function within this population after loss of ambulation. The aim of this study was to assess change in percentage of predicted forced vital capacity (FVC% predicted) and change in the Revised Upper Limb Module (RULM) score in these patients throughout

In comparative studies, treatment effects are typically evaluated at a specific time point. When data are collected periodically, an alternative, clinically meaningful approach could be used to assess the totality of treatment effects. We applied a well-developed analytical procedure for evaluating longitudinal treatment effects using North Star Ambulatory Assessment (NSAA) data for illustration.

High-resolution ultrasound (HRUS) is the imaging method of choice to visualize peripheral nerve size, structure, and biomechanical performance. The purpose of this study was to show and quantify the effects of active and passive wrist alignment on median nerve (MN) cross-sectional area (CSA) along the forearm in a healthy population.

Lymphatic vessels are responsible for the removal of metabolic waste from body tissues. They also play a crucial role in skeletal muscle functioning thorough their high-energy metabolism. In this study we investigated whether disuse muscle atrophy induced by hindlimb unloading is associated with an alteration in the number of lymphatic vessels and differential expression of lymphangiogenic factors

Optimal management of myasthenia gravis (MG) in individuals ≥65 y old is unknown and patient factors may limit therapeutic choices. Safety and efficacy of rituximab in older patients with MG has not been well-studied.

Amyotrophic lateral sclerosis (ALS) symptoms mimic those of other conditions and often require multiple physician and healthcare contacts for investigation and accurate diagnosis. We examined the type and frequency of healthcare service utilization prior to ALS diagnosis and tracheostomy-free survival by sex and rurality among individuals treated with riluzole in Ontario, Canada.

Many novel therapies are now available for rare neuromuscular conditions that were previously untreatable. Hereditary transthyretin amyloidosis and spinal muscular atrophy are two examples of diseases with new medications that have transformed our field. The United States and the United Kingdom have taken disparate approaches to the approval and coverage of medications, despite both providing incentives

Intrathecal nusinersen administration can be challenging in certain adult spinal muscular atrophy (SMA) patients with difficult spinal anatomy who require imaging techniques (fluoroscopy or computed tomography scans) or invasive approaches (catheter placement, laminotomy) to identify the intrathecal space. We used ultrasound (US) assistance to access the lumbar intrathecal space in patients with SMA

Stromal interaction molecule 1 (STIM1) is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Autosomal dominant mutations in STIM1 cause tubular aggregate myopathy and Stormorken syndrome or its variant York platelet syndrome. In this study we aimed to expand the features related to new variants in STIM1.

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are characterized by fat replacement of different skeletal muscles in a specific temporal order. Given the structural role of dystrophin in skeletal muscle mechanics, muscle architecture could be important in the progressive pathophysiology of muscle degeneration. Therefore, the aim of this study was to assess the role of muscle architecture

The posterior antebrachial cutaneous nerve (PACN) is one of the cutaneous branches of the radial nerve, and receives sensory input from the posterior arm and forearm. The aim of this study is to describe the ultrasonographic anatomy of the PACN.

Imbalance is a common feature of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Intravenous immunoglobulin (IVIg) exerts clinical benefit in CIDP, including improving balance, although objective markers of efficacy are lacking. Posturography is an established objective marker of balance; therefore, this study aimed to determine the utility of posturography as an objective marker

Diagnostic criteria for amyotrophic lateral sclerosis (ALS) are complex, incorporating multiple levels of certainty from possible through to definite, and are thereby prone to error. Specifically, interrater variability was previously established to be poor, thereby limiting utility as diagnostic enrollment criteria for clinical trials. In addition, the different levels of diagnostic certainty do not

Spinal muscular atrophy type 1 (SMA 1) is a devastating motor neuron disorder that leads to progressive muscle weakness, respiratory failure and premature death. Although sensory electrophysiological changes have been anecdotally found in pediatric SMA 1 patients, the age of onset of sensory neuropathy remains unknown.

Neurogenic thoracic outlet syndrome (NTOS) is a heterogeneous and often disputed entity. An electrodiagnostic pattern of T1 > C8 axon involvement is considered characteristic for the diagnosis of NTOS. However, since the advent of high-resolution nerve ultrasound (US) imaging, we have encountered several patients with a proven entrapment of the lower brachial plexus who showed a different, variable

Ultrasound (US) studies have demonstrated patchy enlargement of spinal and peripheral nerves in Guillain-Barré syndrome (GBS). However, whether ultrasound yields useful information for early classification of GBS has not been established. We aimed to evaluate nerve ultrasound in patients with GBS in northern China and compare the sonographic characteristics between demyelinating and axonal subtypes

The treatment of entrapment neuropathies, such as carpal tunnel syndrome or cubital tunnel syndrome, has significant challenges that have yet to be solved. To a large extent, the success of the treatment of peripheral nerve damage is dependent on brain plasticity during the recovery process. Recently, noninvasive brain stimulation procedures, such as transcranial direct current stimulation (tDCS),

See article on pages 270–276 in this issue.

Immunoglobulin G (IgG) therapy is an established long-term treatment in chronic inflammatory demyelinating polyneuropathy (CIDP) that is commonly administered intravenously (IVIg). The subcutaneous immunoglobulin (SCIg) administration route is a safe and effective alternative option, approved by the United States Food and Drug Administration (FDA) in 2018, for maintenance treatment of adults with CIDP

Despite recent advances in the understanding of inherited muscle and neuromuscular junction diseases, as well as the advent of a wide range of genetic tests, patients continue to face delays in diagnosis of sometimes treatable disorders. These guidelines outline an approach to genetic testing in such disorders. Initially, a patient's phenotype is evaluated to identify myopathies requiring directed

We explored correlates of night-time and exercise-associated lower limb cramps in participants of the 1000 Norms Project.

Videonystagmography (VNG) which directly records eye movements using infrared video goggles with mini-cameras, is used to measure nystagmus. Our aim is to explore whether VNG can be used to detect a decrement in the extraocular muscle (EOM) activity of patients with myasthenia gravis (MG).

Exertional rhabdomyolysis (ER) often occurs during prolonged intense exercise in hot environments, posing a threat to the health of military personnel. In this study we aimed to investigate possible risk factors for ER and provide further empirical data for prevention and clinical treatment strategies.

Long-term efficacy and safety of dichlorphenamide (DCP) were characterized in patients with primary periodic paralysis (PPP).

The initial surge of the coronavirus disease-2019 (COVID-19) pandemic in early 2020 led to widespread cancellation of elective medical procedures in the United States, including nonurgent outpatient and inpatient electrodiagnostic (EDx) studies. As certain regions later showed a downtrend in daily new cases, EDx laboratories have reopened under the guidance of the American Association of Neuromuscular

Obesity is a factor contributing to suboptimal improvement of motor function in peripheral nerve disorders. In this study we aimed to evaluate the skeletal muscles during denervation and reinnervation after nerve crush injury in leptin-deficient (ob/ob) mice.

We report two patients with slowly progressive amyotrophic lateral sclerosis (ALS) who experienced rapid functional decline after contracting severe acute respiratory virus–coronavirus-2 (SARS-CoV-2). A 78-year-old man developed proximal leg weakness in 2014 and was diagnosed with probable ALS based on El Escorial criteria1 in 2016. His revised ALS Functional Rating Scale (ALSFRS-R) assessment, administered

Erratum to Harada Y, Sheng S, Thombre VA, et al. A neuromuscular-based analysis of the open payments program. Muscle & Nerve. 2021;63:96–99. https://doi.org/10.1002/mus.27016. Yohei Harada's affiliation information was incomplete as it appeared in the above-mentioned article. The complete affiliation details follow: Yohei Harada MD.1,6 1Department of Neurology, University of Arkansas for Medical

It has been well established that spasticity interferes with smooth joint movements. Although the degree of spasticity is related to the excitability of anterior horn cells and is thought to improve after repetitive movements, the effect of the rhythm of repetitive movements on the excitability of anterior horn cells remains unknown. Therefore, we investigated the excitability of anterior horn cells

The clinical spectrum of small fiber neuropathy (SFN) encompasses manifestations related to the involvement of thinly myelinated A-delta and unmyelinated C fibers, including not only the classical distal phenotype, but also a non–length-dependent (NLD) presentation that can be patchy, asymmetrical, upper limb-predominant, or diffuse. This narrative review is focused on NLD-SFN. The diagnosis of NLD-SFN

The Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM) have been widely used in natural history studies and clinical trials. Our aim was to establish how the scales relate to each other at different age points in spinal muscular atrophy (SMA) type 2 and 3, and to describe their coherence over 12 mo.

Over the past 2 decades, the surgical treatment of brachial plexus and peripheral nerve injuries has advanced considerably. Nerve transfers have become an important surgical tool in addition to nerve repair and grafting. Electrodiagnosis has traditionally played a role in the diagnosis and localization of peripheral nervous system injuries, but a different approach is needed for surgical decision-making

Chronic inflammatory demyelinating polyneuropathy (CIDP) may be rarely preceded by infection. A causative link remains unproven, in contrast to Guillain-Barré syndrome (GBS), which is commonly postinfectious with well-demonstrated pathophysiological mechanisms of molecular mimicry following Campylobacter jejuni enteritis. Uncommonly, infections are reported before the onset of CIDP. In this study we

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