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Background: Variants in RYR1, the gene encoding the ryanodine receptor-1, can give rise to a wide spectrum of neuromuscular conditions. Muscle imaging abnormalities have been demonstrated in isolated cases of patients with a history of RYR1-related malignant hyperthermia (MH) susceptibility. Objective: To provide insights into the type and prevalence of muscle ultrasound abnormalities and muscle hypertrophy in patients carrying gain-of-function RYR1 variants associated with MH susceptibility and to contribute to delineating the wider phenotype, optimizing the diagnostic work-up and care for of MH susceptible patients. Methods: We performed a prospective cross-sectional observational muscle ultrasound study in patients with a history of RYR1-related MH susceptibility (n = 40). Study procedures included a standardized history of neuromuscular symptoms and a muscle ultrasound assessment. Muscle ultrasound images were analyzed using a quantitative and qualitative approach and compared to reference values and subsequently subjected to a screening protocol for neuromuscular disorders. Results: A total of 15 (38%) patients had an abnormal muscle ultrasound result, 4 (10%) had a borderline muscle ultrasound screening result, and 21 (53%) had a normal muscle ultrasound screening result. The proportion of symptomatic patients with an abnormal result (11 of 24; 46%) was not significantly higher compared to the proportion of asymptomatic patients with an abnormal ultrasound result (4 of 16; 25%) (P = 0.182). The mean z-scores of the biceps brachii (z = 1.45; P < 0.001), biceps femoris (z = 0.43; P = 0.002), deltoid (z = 0.31; P = 0.009), trapezius (z = 0.38; P = 0.010) and the sum of all muscles (z = 0.40; P < 0.001) were significantly higher compared to 0, indicating hypertrophy. Conclusions: Patients with RYR1 variants resulting in MH susceptibility often have muscle ultrasound abnormalities. Frequently observed muscle ultrasound abnormalities include muscle hypertrophy and increased echogenicity.

BackgroundNeuralgic amyotrophy (NA) is an acute inflammation of nerves within the brachial plexus territory leading to severe pain and multifocal paresis resulting in >60% of patients having residual complaints and functional limitations correlated with scapular dyskinesia. Our primary aim was to compare the effects of multidisciplinary rehabilitation (MR), focused on motor relearning to improve scapular dyskinesia and self-management strategies for reducing pain and fatigue, with usual care (UC) on shoulder, arm and hand functional capability in patients with NA.MethodsIn a non-blinded randomised controlled trial (RCT), patients with NA (aged≥18 years, scapular dyskinesia, >8 weeks after onset) were randomised to either an MR or an UC group. MR consisted of a diagnostic multidisciplinary consultation and eight sessions of physical and occupational therapy. Primary outcome was functional capability of the shoulder, arm and hand assessed with the Shoulder Rating Questionnaire–Dutch Language Version (SRQ-DLV).ResultsWe included 47 patients with NA; due to drop-out, there were 22 participants in MR and 15 in UC for primary analysis. The mean group difference adjusted for sex, age and SRQ-DLV baseline score was 8.60 (95%CI: 0.26 to 16.94, p=0.044). The proportion attaining a minimal clinically relevant SRQ-DLV improvement (≥12) was larger for the MR group (59%) than the UC group (33%) with a number needed to treat of 4.ConclusionThis RCT shows that an MR programme focused on motor relearning to improve scapular dyskinesia, combined with self-management strategies for reducing pain and fatigue, shows more beneficial effects on shoulder, arm and hand functional capability than UC in patients with NA.Trial registration numberNCT03441347.

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Neuralgic amyotrophy (NA) is a multifocal neuropathy involving the nerves of the upper extremity, limiting functional capability and reducing range of motion. The reachable workspace (RWS) is a computerized three-dimensinal analysis system that evaluates the relative surface area (RSA) of an individual's arm reachability and has shown utility in several neuromuscular disorders. The aims of this study were to examine the ability of the RWS to quantitatively detect limitations in upper extremity active range of motion in patients with NA, and correlate these with other upper extremity functional outcome measures.Forty-seven patients with NA and 25 healthy age- and sex-matched controls were measured with the RWS. Study participants' RSAs were correlated with scores on the Shoulder Rating Questionnaire (SRQ), the Disabilities of Arm Shoulder and Hand (DASH) questionnaire, and upper extremity strength measurements using hand-held dynamometry.Patients with NA showed significantly lower values in the affected arm for all quadrants (except for the ipsilateral lower quadrant) and total RSA compared with controls (P 0.001). We found moderate correlations between the reachable workspace, the DASH questionnaire result (r = -0.415), and serratus anterior muscle strength (r = 0.414).RWS is able to detect limitations in active range of motion of the affected arm in patients with NA, and is moderately correlated with upper extremity functional measures. RWS can demonstrate impairment of the affected upper extremity in NA and it has potential as a clinical outcome measure.

Contains fulltext : 282540.pdf (Publisher’s version ) (Open Access) INTRODUCTION/AIMS: Visual and quantitative muscle ultrasound are both valid diagnostic tools in neuromuscular diseases. To optimize muscle ultrasound evaluation and facilitate its use in neuromuscular disease, we examined the correlation between visual and quantitative muscle ultrasound analysis and their pitfalls. METHODS: Retrospective data from 994 patients with 13,562 muscle ultrasound images were analyzed. Differences in echogenicity z-score distribution per Heckmatt grade and corresponding correlation coefficients were calculated. RESULTS: Overall, there was a correlation of 0.60 between the two scoring systems, with a gradual increase in z-score with increasing Heckmatt grades and vice versa. Patients with a neuromuscular disorder had higher Heckmatt grades (p

Contains fulltext : 244190.pdf (Publisher’s version ) (Closed access) INTRODUCTION/AIMS: 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 courses, their design, or participants' views of this form of training. Therefore, the aims of this study were: (1) to determine the feasibility of conducting virtual neuromuscular ultrasound courses during the COVID-19 pandemic; and (2) to report the positive and negative aspects of the courses through the analyses of the responses of post-course surveys. METHODS: Two virtual neuromuscular ultrasound courses, basic and intermediate level, were conducted by the Egyptian Neuromuscular Ultrasound society during August 2020. Post-course, the attendees were directed to an electronic survey that consisted of eight questions. Ninety-three responses (23.8%) were obtained from the survey of the basic course and 156 responses (44.4%) were obtained from the survey of the intermediate course. RESULTS: Ninety-eight percent of the respondents to basic course surveys, and 100% of the respondents to the intermediate course survey found the courses useful or very useful. DISCUSSION: This report demonstrates the utility of virtual neuromuscular ultrasound courses for those participants willing to respond to a survey and describes a proposed design for such courses. Although hands-on supervised ultrasound training is ideal, virtual courses can be useful alternatives to in-person training when in-person interaction is restricted.

Contains fulltext : 244189.pdf (Publisher’s version ) (Open Access) INTRODUCTION/AIMS: 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 electrodiagnostic pattern. METHODS: In this retrospective case series, 14 patients with an NTOS diagnosis with a verified source of compression of the lower brachial plexus and abnormal findings on their electrodiagnostic testing were included. Their medical records were reviewed to obtain clinical, imaging, and electrodiagnostic data. RESULTS: Seven patients showed results consistent with the "classic" T1 axon > C8 pattern of involvement. Less typical findings included equally severe involvement of T1 and C8 axons, more severe C8 involvement, pure motor abnormalities, neurogenic changes on needle electromyography in the flexor carpi radialis and biceps brachii muscles, and one patient with an abnormal sensory nerve action potential (SNAP) amplitude for the median sensory response recorded from the third digit. Patients with atypical findings on electrodiagnostic testing underwent nerve imaging more often compared to patients with classic findings (seven of seven patients vs. five of seven respectively), especially nerve ultrasound. DISCUSSION: When there is a clinical suspicion of NTOS, an electrodiagnostic finding other than the classic T1 > C8 pattern of involvement does not rule out the diagnosis. High resolution nerve imaging is valuable to diagnose additional patients with this treatable condition.

Contains fulltext : 292855.pdf (Publisher’s version ) (Open Access)

Item does not contain fulltext INTRODUCTION/AIMS: We have previously reported that online neuromuscular ultrasound courses are feasible and were found to be useful by most survey respondents. However, our previous report lacked objective assessment of the educational value of the courses. Therefore, we aimed in this study to evaluate the learning outcomes of online neuromuscular ultrasound courses. METHODS: Each of the basic and advanced courses featured one pre- and two post-course online knowledge tests. The percentage of corrected answers and the participants' scores in the three tests were calculated and compared. RESULTS: A total of 153 out of 277 course participants answered the course test. The mean percentage of correct answers were significantly higher in the second and first post-course tests compared to the pre-course test (Basic course test: 80.2 ± 14.8%, 75.5 ± 15.9%, 64.3 ± 19.1%, respectively; Advanced course test: 80.9 ± 20.1, 78.9 ± 15.2%, 69.5 ± 20.2%, respectively). The mean scores of the participants in the basic course test significantly improved in the first and second post-course tests (from 66.6% to 77.5% and from 67.2% to 80.2%, respectively) whereas those of the participants in the advanced course test significantly improved in the first post-course test only (from 76.3% to 85.4%). DISCUSSION: This report demonstrates the capability of online neuromuscular ultrasound courses, particularly the basic-level courses, to enhance knowledge. This information can further help integrate virtual neuromuscular ultrasound teaching as a standard complementary educational format together with supervised in-person or remote hands-on training. 01 januari 2023

Contains fulltext : 291244.pdf (Publisher’s version ) (Open Access) Neuralgic amyotrophy (NA), also referred to as idiopathic brachial plexitis and Parsonage-Turner syndrome, is a peripheral nerve disorder characterized by acute severe shoulder pain followed by progressive upper limb weakness and muscle atrophy. While NA is incompletely understood and often difficult to diagnose, early recognition may prevent unnecessary tests and interventions and, in some situations, allow for prompt treatment, which can potentially minimize adverse long-term sequalae. High-resolution ultrasound (HRUS) has become a valuable tool in the diagnosis and evaluation of NA. Pathologic HRUS findings can be grouped into four categories: nerve swelling, swelling with incomplete constriction, swelling with complete constriction, and fascicular entwinement, which may represent a continuum of pathologic processes. Certain ultrasound findings may help predict the likelihood of spontaneous recovery with conservative management versus the need for surgical intervention. We recommend relying heavily on history and physical examination to determine which nerves are clinically affected and should therefore be assessed by HRUS. The nerves most frequently affected by NA are the suprascapular, long thoracic, median and anterior interosseous nerve (AIN) branch, radial and posterior interosseous nerve (PIN) branch, axillary, spinal accessory, and musculocutaneous. When distal upper limb nerves are affected (AIN, PIN, superficial radial nerve), the lesion is almost always located in their respective fascicles within the parent nerve, proximal to its branching point. The purpose of this review is to describe a reproducible, standardized, ultrasonographic approach for evaluating suspected NA, and to share reliable techniques and clinical considerations when imaging commonly affected nerves. 01 januari 2023

Malignant hyperthermia and exertional rhabdomyolysis have conventionally been considered episodic phenotypes that occur in otherwise healthy individuals in response to an external trigger. However, recent studies have demonstrated a clinical and histopathological continuum between patients with a history of malignant hyperthermia susceptibility and/or exertional rhabdomyolysis and RYR1-related congenital myopathies. We hypothesize that patients with a history of RYR1-related exertional rhabdomyolysis or malignant hyperthermia susceptibility do have permanent neuromuscular symptoms between malignant hyperthermia or exertional rhabdomyolysis episodes. We performed a prospective cross-sectional observational clinical study of neuromuscular features in patients with a history of RYR1-related exertional rhabdomyolysis and/or malignant hyperthermia susceptibility (n = 40) compared with healthy controls (n = 80). Patients with an RYR1-related congenital myopathy, manifesting as muscle weakness preceding other symptoms as well as other (neuromuscular) diseases resulting in muscle weakness were excluded. Study procedures included a standardized history of neuromuscular symptoms, a review of all relevant ancillary diagnostic tests performed up to the point of inclusion and a comprehensive, standardized neuromuscular assessment. Results of the standardized neuromuscular history were compared with healthy controls. Results of the neuromuscular assessment were compared with validated reference values. The proportion of patients suffering from cramps (P < 0.001), myalgia (P < 0.001) and exertional myalgia (P < 0.001) was higher compared with healthy controls. Healthcare professionals were consulted because of apparent neuromuscular symptoms by 17/40 (42.5%) patients and 7/80 (8.8%) healthy controls (P < 0.001). Apart from elevated creatine kinase levels in 19/40 (47.5%) patients and mild abnormalities on muscle biopsies identified in 13/16 (81.3%), ancillary investigations were normal in most patients. The Medical Research Council sum score, spirometry and results of functional measurements were also mostly normal. Three of 40 patients (7.5%) suffered from late-onset muscle weakness, most prominent in the proximal lower extremity muscles. Patients with RYR1 variants resulting in malignant hyperthermia susceptibility and/or exertional rhabdomyolysis frequently report additional neuromuscular symptoms such as myalgia and muscle cramps compared with healthy controls. These symptoms result in frequent consultation of healthcare professionals and sometimes in unnecessary invasive diagnostic procedures. Most patients do have normal strength at a younger age but may develop muscle weakness later in life.

BackgroundSELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mutations in theLAMA2gene (LAMA2-related muscular dystrophy, LAMA2-MD) has a similar clinical phenotype, with either a severe, early-onset due to complete Laminin subunit α2 deficiency (merosin-deficient congenital muscular dystrophy type 1A (MDC1A)), or a mild, childhood- or adult-onset due to partial Laminin subunit α2 deficiency. For both muscle diseases, no curative treatment options exist, yet promising preclinical studies are ongoing. Currently, there is a paucity on natural history data and appropriate clinical and functional outcome measures are needed to reach trial readiness.MethodsLAST STRONG is a natural history study in Dutch-speaking patients of all ages diagnosed with SELENON-RM or LAMA2-MD, starting August 2020. Patients have four visits at our hospital over a period of 1.5 year. At all visits, they undergo standardized neurological examination, hand-held dynamometry (age ≥ 5 years), functional measurements, questionnaires (patient report and/or parent proxy; age ≥ 2 years), muscle ultrasound including diaphragm, pulmonary function tests (spirometry, maximal inspiratory and expiratory pressure, sniff nasal inspiratory pressure; age ≥ 5 years), and accelerometry for 8 days (age ≥ 2 years); at visit one and three, they undergo cardiac evaluation (electrocardiogram, echocardiography; age ≥ 2 years), spine X-ray (age ≥ 2 years), dual-energy X-ray absorptiometry (DEXA-)scan (age ≥ 2 years) and full body magnetic resonance imaging (MRI) (age ≥ 10 years). All examinations are adapted to the patient’s age and functional abilities. Correlation between key parameters within and between subsequent visits will be assessed.DiscussionOur study will describe the natural history of patients diagnosed with SELENON-RM or LAMA2-MD, enabling us to select relevant clinical and functional outcome measures for reaching clinical trial-readiness. Moreover, our detailed description (deep phenotyping) of the clinical features will optimize clinical management and will establish a well-characterized baseline cohort for prospective follow-up.ConclusionOur natural history study is an essential step for reaching trial readiness in SELENON-RM and LAMA2-MD.Trial registrationThis study has been approved by medical ethical reviewing committee Region Arnhem-Nijmegen (NL64269.091.17, 2017–3911) and is registered atClinicalTrial.gov(NCT04478981).

Contains fulltext : 282596.pdf (Publisher’s version ) (Open Access) INTRODUCTION/AIMS: Diaphragm ultrasound is increasingly used in the diagnosis of diaphragm dysfunction and to guide respiratory management in patients with neuromuscular disorders and those who are critically ill. However, the association between diaphragm ultrasound variables and demographic factors like age, sex, and body mass index (BMI) are understudied. Such relationships are important for correct interpretation of normative values and comparison with selected patients groups. The aim of this study was to determine the associations between diaphragm ultrasound variables and subject characteristics. METHODS: B-mode ultrasound was used to image the diaphragm at the zone of apposition in 83 healthy subjects. Diaphragm thickness at resting end-expiration (T(end-exp) ), diaphragm thickness at maximal end-inspiration (T(max-insp) ), diaphragm thickening ratio (T(max-insp) /T(end-exp) ), and diaphragm echogenicity were measured. Multivariate linear regression was used to explore the associations between diaphragm ultrasound variables and subject characteristics. RESULTS: T(end-exp) , T(max-insp) , and thickening ratio do not change with age whereas diaphragm echogenicity increases with age. The thickening ratio had a weak negative association with BMI, while T(end-exp) was positively associated with BMI. Men had a larger T(end-exp) and T(max-insp) than women (T(end-exp) 1.6 ± 0.5 and 1.4 ± 0.3 mm; p = .011, T(max-insp) 3.8 ± 1.0 and 3.2 ± 0.9 mm; p = .004), but similar thickening ratios. DISCUSSION: Diaphragm thickness, thickening, and echogenicity measured with ultrasound are associated with factors such as age, BMI, and sex. Therefore, subject characteristics should be considered when interpreting diaphragm ultrasound measurements. In the absence of normative values, matched control groups are a prerequisite for research and in clinical practice.

Contains fulltext : 231785.pdf (Publisher’s version ) (Open Access) The current standard for composite tissue preservation is static cold storage (SCS) and is limited to 6 h until irreversible muscle damage occurs. Extracorporeal perfusion (ECP) is a promising technique for prolonged preservation, however, functional results have been scarcely researched. This article assessed neuromuscular function and compared results to histological alterations to predict muscle damage after ECP. Forelimbs of twelve Dutch landrace pigs were amputated and preserved by 4 h SCS at 4-6 °C (n = 6) or 18 h mid-thermic ECP with University of Wisconsin solution (n = 6). Limbs were replanted and observed for 12 h. Sham surgery was performed on contralateral forelimbs (n = 12). Histology analysis scored four subgroups representing different alterations (higher score equals more damage). Muscle contraction after median nerve stimulation was comparable between ECP, SCS, and sham limbs (P = 0.193). Histology scores were higher in ECP limbs compared to SCS limbs (4.8 vs. 1.5, P = 0.013). This was mainly based on more oedema in these limbs. In-vivo muscle contraction was well preserved after 18 h ECP compared to short SCS, although histology seemed inferior in this group. Histology, therefore, did not correlate to muscle function at 12 h after replantation. This leads to the question whether histology or neuromuscular function is the best predictor for transplant success.

Contains fulltext : 220509.pdf (Publisher’s version ) (Closed access)

Contains fulltext : 218847.pdf (Publisher’s version ) (Open Access) Brachial plexus neuropathy is often seen in the military population, especially due to pressure (backpack palsy, BPP) or idiopathic (neuralgic amyotrophy, NA). We aimed to gain insight in the disease characteristics of soldiers with brachial plexus neuropathies in the Dutch military population and to compare disease characteristics between patients with BPP and NA. In this retrospective chart review study we aimed to include all patients with brachial plexus neuropathy, who presented in the Joint Military Hospital between 1 January, 2011 and 31 December, 2016. We calculated the incidence of NA and BPP and Chi-square tests or Student t tests were performed for differences in patient characteristics between NA and BPP. We included 127 patients, 63 with BPP, 45 with NA, 10 with traumatic brachial plexus neuropathy, and 9 with other plexopathy. The incidence of brachial plexus neuropathy was 50/100 000 person years overall, 25/100 000 person years for BPP, and 18/100 000 person years for NA. Patients in the BPP group differed from the NA with regard to pain (BPP 41% vs NA 93%, P = .000), atrophy (13% BPP vs 29% NA, P = .049), and sensory symptoms (83% BPP vs 44% NA, P = .000). In the BPP group 90% had incomplete recovery and in the NA group 78%. Our study showed a high incidence of BPP and NA in the military population and suggests recovery is not so benevolent as previously thought. Future research is necessary to improve insight and outcome of military patients with brachial plexus neuropathies.

INTRODUCTION/AIMS Hourglass-like constrictions (HGCs) occur in neuralgic amyotrophy (NA), but the earliest time at which they can be recognized by imaging is poorly understood. We aimed to determine the prevalence of abnormal imaging findings in the acute phase of NA. METHODS Magnetic resonance neurography (MRN) and high-resolution ultrasound (US) examinations were performed at 5 sites. The investigation included 39 patients with acute NA who underwent imaging within 31 days of symptom onset. Correlation between imaging and electromyography (EMG) findings was measured. RESULTS US was performed in 29 patients and MRN in 23; 16 patients underwent US only, 10 MRN only, and 13 had both. US and MRN showed nerve abnormalities within 1 month from NA onset in 90% of patients. HGCs were found in 74% (29/39) of the patients: 4 within 1 week, 8 within 2 weeks, 5 within 3 weeks, and 12 within 4 weeks. The earliest HGC on US was found within 12 hours, and on MRN within 3 days from symptom onset. MRN demonstrated a denervation edema pattern of affected muscles in 91% of the patients. The shortest time to observe an edema pattern on MRN was 8 days. EMG was performed in 30 patients and revealed fibrillation potentials in affected muscles in 22 (73%). A denervation edema pattern on MRN was significantly associated with the presence of HGCs both on MRN and US, and with fibrillation potentials on EMG. DISCUSSION In the early phase of NA, US and MRN are useful diagnostic techniques for demonstrating nerve abnormalities. This article is protected by copyright. All rights reserved.

Contains fulltext : 282655.pdf (Publisher’s version ) (Open Access) INTRODUCTION/AIMS: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, progressive muscle disease. Quantitative muscle ultrasound (QMUS) assesses structural changes in muscles and is a sensitive biomarker in neuromuscular disorders. Our aim of this study was to determine whether QMUS can detect muscle pathology and can be used as longitudinal imaging biomarker in OPMD. METHODS: Genetically confirmed OPMD patients, recruited by their treating physicians or from the national neuromuscular database, were examined twice, 20 months apart, using QMUS of orofacial and limb muscles, and measurements of functional capacity and muscle strength. Absolute echo intensity (AEI) and muscle thickness of all muscles were analyzed and correlated with clinical data. RESULTS: The tongue, deltoid, iliopsoas, rectus femoris, and soleus muscles showed increased AEI at baseline compared with normal values in 43 OPMD patients, with the rectus femoris being most often affected (51%).The AEI and muscle thickness of 9 of 11 muscles correlated significantly with the motor function measure, 10-step stair test, swallowing capacity, dynamometry, Medical Research Council grade, tongue strength, and bite force (r = 0.302 to -0.711). Between baseline and follow-up, deterioration in AEI was found for the temporalis, tongue, and deltoid muscles, and decreased muscle thickness was detected for the temporalis, masseter, digastric, tongue, deltoid, iliopsoas, and soleus muscles (P

Background: Neuralgic amyotrophy (NA) is a common peripheral nerve disorder caused by auto-immune inflammation of nerves in the brachial plexus territory, characterized by acute pain and weakness of the shoulder muscles, followed by motor impairment. Recent work has confirmed that NA patients with residual motor dysfunction have abnormal cerebral sensorimotor representations of their affected upper extremity. Objective: To determine whether abnormal cerebral sensorimotor representations associated with NA can be altered by specialized, multidisciplinary outpatient rehabilitation focused on relearning motor control. Methods: 27 NA patients with residual lateralized symptoms in the right upper extremity participated in a randomized controlled trial, comparing 17 weeks of multidisciplinary rehabilitation ( n = 16) to usual care ( n = 11). We used task-based functional MRI and a hand laterality judgment task, which involves motor imagery and is sensitive to altered cerebral sensorimotor representations of the upper extremity. Results: Change in task performance and related brain activity did not differ significantly between the multidisciplinary rehabilitation and usual care groups, whereas the multidisciplinary rehabilitation group showed significantly greater clinical improvement on the Shoulder Rating Questionnaire. Both groups, however, showed a significant improvement in task performance from baseline to follow-up, and significantly increased activity in visuomotor occipito-parietal brain areas, both specific to their affected upper extremity. Conclusions: Abnormal cerebral sensorimotor representations of the upper extremity after peripheral nerve damage in NA can recover toward normality. As adaptations occurred in visuomotor brain areas, multidisciplinary rehabilitation after peripheral nerve damage may be further optimized by applying visuomotor strategies. This study is registered at ClinicalTrials.gov (NCT03441347).

Contains fulltext : 248859.pdf (Publisher’s version ) (Closed access) Expert consensus was sought to guide clinicians on the use of electrodiagnostic tests (EDX) and neuromuscular ultrasound (NMUS) in the investigation of suspected carpal tunnel syndrome (CTS). Consensus was achieved using the Delphi method via three consecutive anonymised surveys of 15 experts and was defined as rating agreement ≥ 80%. The panel agreed that combining EDX and NMUS is more informative than using each modality alone. NMUS adds value in patients with clinically suspected CTS with non-localizing or normal EDX, atypical EDX, failed CTS surgery, polyneuropathy, and CTS suspected to be secondary to structural pathology. The median nerve cross-sectional area should be measured at the site of maximal nerve enlargement, and the nerve should be scanned from mid-forearm to the palm. The group also identified those situations where the wrist-to-forearm area ratio and longitudinal scans of the median nerve should also be obtained. EDX should always be performed to quantify CTS severity and in individuals over age 70. This document is an initial step to guide clinicians on the combined investigation of CTS using EDX and NMUS, to be updated regularly with the emergence of new research.

Contains fulltext : 246951.pdf (Publisher’s version ) (Open Access) Neuralgic amyotrophy is a common peripheral nerve disorder caused by auto-immune inflammation of the brachial plexus, clinically characterized by acute pain and weakness of the shoulder muscles, followed by motor impairment. Despite recovery of the peripheral nerves, patients often have residual motor dysfunction of the upper extremity, leading to persistent pain related to altered biomechanics of the shoulder region. Building on clinical signs that suggest a role for cerebral mechanisms in these residual complaints, here we show and characterize cerebral alterations following neuralgic amyotrophy. Neuralgic amyotrophy patients often develop alternative motor strategies, which suggests that (mal)adaptations may occur in somatomotor and/or visuomotor brain areas. Here we tested where changes in cerebral sensorimotor representations occur in neuralgic amyotrophy, while controlling for altered motor execution due to peripheral neuropathy. We additionally explore the relation between potential cerebral alterations in neuralgic amyotrophy and clinical symptoms. During functional MRI scanning, 39 neuralgic amyotrophy patients with persistent, lateralized symptoms in the right upper extremity and 23 matched healthy participants solved a hand laterality judgment task that can activate sensorimotor representations of the upper extremity, across somatomotor and visuomotor brain areas. Behavioural and cerebral responses confirmed the involvement of embodied, sensorimotor processes across groups. Compared to healthy participants, neuralgic amyotrophy patients were slower in hand laterality judgment, and had decreased cerebral activity specific to their affected limb in two higher-order visual brain regions: the right extrastriate cortex and the parieto-occipital sulcus. Exploratory analyses revealed that across patients, extrastriate activity specific to the affected limb decreased as persistent pain increased, and affected limb-related parieto-occipital activity decreased as imagery performance of the affected limb became slower. These findings suggest that maladaptive cerebral plasticity in visuomotor areas involved in sensorimotor integration plays a role in residual motor dysfunction and subsequent persistent pain in neuralgic amyotrophy. Rehabilitation interventions that apply visuomotor strategies to improve sensorimotor integration may help to treat neuralgic amyotrophy patients. 16 p.

Contains fulltext : 238508.pdf (Publisher’s version ) (Closed access)

Background Dysphagia is reported in patients with Duchenne or Becker muscular dystrophy. Our clinical experience suggests that, compared with Duchenne patients, impaired mastication and swallowing occur early in Becker patients relative to their skeletal muscle involvement. The aim of this study was to assess dysphagia in Duchenne and Becker patients in relation to ambulatory capacity. Methods In patients in the early ambulatory stage, clinical symptoms, quantitative muscle ultrasound of the orofacial muscles, and maximum bite force were assessed. The 6‐Minute Walk Test (6MWT) was used to measure ambulatory capacity. Results Eleven Duchenne and 11 Becker patients were included. Although Becker patients had a greater 6MWT distance than Duchenne patients, the occurrence of mastication and swallowing difficulties was similar. The temporalis muscle was significantly thicker in Becker patients. Conclusions Clinicians should be aware of dysphagia in both groups, even when ambulation is still well preserved.

Background Strength testing of the serratus anterior muscle with hand held dynamometry (HDD) in supine subjects has low reproducibility, and is influenced by compensatory activity of other muscles like the pectoralis major and upper trapezius. Previously, two manual maximum voluntary isometric contraction tests of the serratus anterior muscle were reported that recruited optimal surface electromyography (sEMG) activity in a sitting position. We adapted three manual muscle tests to make them suitable for HHD and investigated their validity and reliability. Methods Twenty-one healthy adults were examined by two assessors in one supine and two seated positions. Each test was repeated twice. Construct validity was determined by evaluating force production (assessed with HHD) in relation to sEMG of the serratus anterior, upper trapezius and pectoralis major muscles, comparing the three test positions. Intra- and interrater reliability were determined by calculating intra-class correlation coefficients (ICC) smallest detectable change (SDC) and standard error of measurement (SEM). Results Serratus anterior muscle sEMG activity was most isolated in a seated position with the humerus in 90 degrees anteflexion in the scapular plane. This resulted in the lowest measured force levels in this position with a mean force of 296 N (SEM 15.8 N). Intrarater reliability yielded an ICC of 0.658 (95% CI 0.325; 0.846) and an interrater reliability of 0.277 (95% CI -0.089;0.605). SDC was 127 Newton, SEM 45.8 Newton. Conclusion The results indicate that validity for strength testing of the serratus anterior muscle is optimal with subjects in a seated position and the shoulder flexed at 90 degrees in the scapular plane. Intrarater reliability is moderate and interrater reliability of this procedure is poor. However the high SDC values make it difficult to use the measurement in repeated measurements.

Contains fulltext : 203051.pdf (Publisher’s version ) (Open Access) OBJECTIVES: Oxaliplatin-induced neurotoxicity can be a dose-limiting side effect to effective chemotherapy. Acute hyperexcitability causes cold-evoked sensory and motor symptoms, which resemble neuromyotonia. An accessible and non-invasive technique for early detection could help select patients for potential treatments. We assessed the use of a simple surface electromyography (sEMG) in patients directly after oxaliplatin infusion. METHODS: In patients with colorectal cancer, acute neurotoxicity was evaluated by means of a physical examination, a questionnaire, and sEMG directly after the second and fourth cycle of oxaliplatin. Questionnaires were also assessed 1 day after infusion. RESULTS: 14 patients were measured after the second cycle and 8 patients were also measured after the fourth cycle of oxaliplatin. All patients reported to a variable degree oxaliplatin induced neurotoxicity symptoms: sensitivity to touching cold or swallowing cold items were reported as most severe. Clinical signs of hyperexcitability were observed in 55% of the measurements. Spontaneous activity compatible with neuromyotonia was observed in 82% of the sEMG recordings. CONCLUSIONS: Patient reported symptoms, physical examination and simple sEMG are complementary measurements to detect acute oxaliplatin induced neurotoxicity. After further validation, sEMG recording can be used as a simple objective screenings tool to detect nerve hyperexcitability directly after oxaliplatin administration.

Item does not contain fulltext PURPOSE OF REVIEW: This review focuses on the current insights and developments in neuralgic amyotrophy (NA), an auto-immune multifocal peripheral nervous system disorder that leaves many patients permanently impaired if not recognized and treated properly. RECENT FINDINGS: NA is not as rare as previously thought. The phenotype is broad, and recent nerve imaging developments suggest that NA is the most common cause of acute anterior or posterior interosseous nerve palsy. Phrenic nerve involvement occurs in 8% of all NA patients, often with debilitating consequences. Acute phase treatment of NA with steroids or i.v. immunoglobulin may benefit patients. Long-term consequences are the rule, and persisting symptoms are mainly caused by a combination of decreased endurance in the affected nerves and an altered posture and movement pattern, not by the axonal damage itself. Patients benefit from specific rehabilitation treatment. For nerves that do not recover, surgery may be an option. SUMMARY: NA is not uncommon, and has a long-term impact on patients' well-being. Early immunomodulating treatment, and identifying phrenic neuropathy or complete nerve paralysis is important for optimal recovery. For persistent symptoms a specific treatment strategy aiming at regaining an energy balance and well-coordinated scapular movement are paramount.

Ultrasound imaging is a patient-friendly and robust technique for studying physiological and pathological muscles. An automatic deep learning (DL) system for the analysis of ultrasound images could be useful to support an expert operator, allowing the study of large datasets requiring less human interaction. The purpose of this study is to present a deep learning algorithm for the cross-sectional area (CSA) segmentation in transverse musculoskeletal ultrasound images, providing a quantitative grayscale analysis which is useful for studying muscles, and to validate the results in a large dataset. The dataset included 3917 images of biceps brachii, tibialis anterior and gastrocnemius medialis acquired on 1283 subjects (mean age 50 ± 21 years, 729 male). The algorithm was based on multiple deep-learning architectures, and its performance was compared to a manual expert segmentation. We compared the mean grayscale value inside the automatic and manual CSA using Bland-Altman plots and a correlation analysis. Classification in healthy and abnormal muscles between automatic and manual segmentation were compared using the grayscale value z-scores. In the test set, a Precision of 0.88 ± 0.12 and a Recall of 0.92 ± 0.09 was achieved. The network segmentation performance was slightly less in abnormal muscles, without a loss of discrimination between healthy and abnormal muscle images. Bland-Altman plots showed no clear trend in the error distribution and the two readings have a 0.99 Pearson's correlation coefficient (p 0.001, test set). The ICC(A, 1) calculated between the z-score readings was 0.99. The algorithm achieves robust CSA segmentation performance and gives mean grayscale level information comparable to a manual operator. This could provide a helpful tool for clinicians in neuromuscular disease diagnosis and follow-up. The entire dataset and code are made available for the research community.

Item does not contain fulltext OBJECTIVE: Gray scale ultrasound (US) has been demonstrated to be a sensitive and specific tool in the diagnosis of pediatric neuromuscular disease (NMD). With recent advances in genetic testing, the diagnostic work up for NMD has evolved. The purpose of this study was to compare the current diagnostic value of gray scale US to previously defined sensitivities and specificities to determine when this test can add value to a patient's diagnostic workup. METHODS: Standardized quantitative gray scale US imaging was performed on 148 pediatric patients presenting for electrodiagnostic testing to evaluate for NMD. Patients were categorized as having an NMD, a non-NMD, or as "uncertain." The US results were defined as normal, borderline or abnormal based on echointensity values. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of the test were calculated. RESULTS: Forty-five percent of the patients had an NMD, 54% a non-NMD, and in 1% the diagnosis remained uncertain. US was abnormal in 73% of myopathies, 63% of neuromuscular junction disorders, 60% of generalized neuropathies and 58% of focal neuropathies. After excluding patients in whom muscle US was not expected to be abnormal (eg, sensory neuropathy), sensitivity was 83%, specificity 79%, PPV 75%, NPV 86%, and accuracy 81%. CONCLUSIONS: Quantitative gray scale muscle US still has good diagnostic value as a screening tool in pediatric NMD. As with any diagnostic test, muscle US is best used in conjunction with history and physical examination to increase specificity and diagnostic yield.

Background and ObjectivesData on the natural history of facioscapulohumeral dystrophy (FSHD) in childhood are limited and critical for improved patient care and clinical trial readiness. Our objective was to describe the disease course of FSHD in children.MethodsWe performed a nationwide, single-center, prospective cohort study of FSHD in childhood assessing muscle functioning, imaging, and quality of life over 2 years of follow-up.ResultsWe included 20 children with genetically confirmed FSHD who were 2 to 17 years of age. Overall, symptoms were slowly progressive, and the mean FSHD clinical score increased from 2.1 to 2.8 (p = 0.003). The rate of progression was highly variable. At baseline, 16 of 20 symptomatic children had facial weakness; after 2 years, facial weakness was observed in 19 of 20 children. Muscle strength did not change between baseline and follow-up. The most frequently and most severely affected muscles were the trapezius and deltoid. The functional exercise capacity, measured with the 6-minute walk test, improved. Systemic features were infrequent and nonprogressive. Weakness-associated complications such as lumbar hyperlordosis and dysarthria were common, and their prevalence increased during follow-up. Pain and fatigue were frequent complaints in children, and their prevalence also increased during follow-up. Muscle ultrasonography revealed a progressive increase in echogenicity.DiscussionFSHD in childhood has a slowly progressive but variable course over 2 years of follow-up. The most promising outcome measures to detect progression were the FSHD clinical score and muscle ultrasonography. Despite this disease progression, an improvement on functional capacity may still occur as the child grows up. Pain, fatigue, and a decreased quality of life were common symptoms and need to be addressed in the management of childhood FSHD. Our data can be used to counsel patients and as baseline measures for treatment trials in childhood FSHD.

Background: The Society for Vascular Surgery (SVS)-reporting standards for neurogenic thoracic outlet syndrome (NTOS) were published in 2016 to produce more consistency in the diagnosis and treatment of NTOS, but outcomes after following these standards are not yet available. We report the results of a standardized multidisciplinary care pathway for NTOS based on the SVS-reporting standards TOS. Methods: Patients referred between August 2016 and December 2019 suspected of TOS were evaluated. Diagnosis and treatment were performed according to a care pathway based on the SVS-reporting standards. Outcome of surgically treated patients was determined by the Derkash score, the TOS disability scale (TDS), CBSQ, DASH Dutch language version (DASH-DLV) and SF-12 at 3, 6, 12, and 24 months. Findings: Of 856 referred patients, 476 (56%) patients were diagnosed with NTOS. Dedicated physical therapy was successful in 186 patients (39%). Surgical treatment was performed in 290 (61%) patients of which 274 were included in final follow up. At a mean follow-up of 16·9 months, significant improvement (P

Contains fulltext : 238533.pdf (Publisher’s version ) (Open Access) The addition of ultrasound (US) to electrodiagnostic (EDX) tests can significantly enhance the accuracy of testing for ulnar neuropathy at the elbow (UNE). We aimed to obtain expert consensus to guide clinicians on the combined use of EDX and US in UNE investigation. Consensus was achieved using the Delphi method. Two consecutive anonymised questionnaires were submitted to 15 experts, who were asked to choose their level of agreement with each statement. Consensus was pre-defined as ≥ 80% rating agreement. The experts concluded that all investigations of UNE should include both nerve conduction studies and US. There was consensus that US should include cross-sectional area measurement and assessment of nerve mobility at the elbow, and that the entire ulnar nerve should be imaged. This study defined expert opinion on the 'core' techniques that should be used routinely in the UNE investigation using EDX and US. Areas with lack of consensus highlighted some controversial issues in the current use of these diagnostic modalities and the need for future research. This document is an initial step to guide clinicians on the combined investigation of UNE using EDX and US, to be regularly updated as new research emerges.

Contains fulltext : 235657.pdf (Publisher’s version ) (Open Access) 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.