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CONTEXT. Huntington’s disease (HD), an incurable, multi-generational, autosomal dominant disorder, creating unique challenges and a myriad of spiritually-related stressors in those affected and their familial caregivers. Spiritual suffering, experiences of grief/loss, and coping strategies have not been systematically studied in HD caregivers. OBJECTIVES. To comprehensively define spiritual suffering, grief/loss, and coping strategies used by HD caregivers. METHODS. A PRISMA-ScR scoping literature review was conducted. Data from included research articles were organized thematically using induction and open coding. A grounded, deductive approach was used to delineate a demarcated taxonomy of themes, which encompasses all three over-arching domains. Four reviewers, employing a modified Delphi approach, ascertained which themes were demonstrated by research participants in each study. RESULTS. 36 of 583 articles met the review criteria; none were published in the palliative care literature. Investigations primarily focused on intrapersonal (self-image) distress and existential angst; only rarely looked deeper into divine/transpersonal suffering, disrupted religious relationships, or meaning distress. HD caregivers experience profound grief/loss, expressed as disenfranchised grief that is associated with the ambiguous loss of their loved one, loss of family structure, social connectedness, and personal losses. Half of the studies reported maladaptive HD caregiver coping strategies—characterized by dysfunctional escape schemes; in contrast, transcendent/creative strategies were often unexplored. CONCLUSION. HD caregivers experience prolonged grief and other forms of spiritual suffering as they progressively lose their loved ones and disruption to their own lives. With an improved assessment tool, teams with spiritual and palliative care experts will better be able to support HD family caregivers.

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.

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

© 2021 International Parkinson and Movement Disorder Society, Background: Huntington's disease (HD) is a rare neurodegenerative disorder with protean clinical manifestations. Its management is challenging, consisting mainly of off-label treatments. Objectives: The International Parkinson and Movement Disorder Society commissioned a task force to review and evaluate the evidence of available therapies for HD gene expansion carriers. Methods: We followed the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. Eligible randomized controlled trials were identified via an electronic search of the CENTRAL, MEDLINE, and EMBASE databases. All eligible trials that evaluated one or more of 33 predetermined clinical questions were included. Risk of bias was evaluated using the Cochrane Risk of Bias tool. A framework was adapted to allow for efficacy and safety conclusions to be drawn from the balance between the GRADE level of evidence and the importance of the benefit/harm of the intervention. Results: Twenty-two eligible studies involving 17 interventions were included, providing data to address 8 clinical questions. These data supported a likely effect of deutetrabenazine on motor impairment, chorea, and dystonia and of tetrabenazine on chorea. The data did not support a disease-modifying effect for premanifest and manifest HD. There was no eligible evidence to support the use of specific treatments for depression, psychosis, irritability, apathy, or suicidality. Similarly, no evidence was eligible to support the use of physiotherapy, occupational therapy, exercise, dietary, or surgical treatments. Conclusions: Data for therapeutic interventions in HD are limited and support only the use of VMAT2 inhibitors for specific motor symptoms.

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.

ObjectiveTo evaluate the cost-effectiveness of neuromuscular ultrasound (NMUS) for the evaluation of focal neuropathies.MethodsA prior prospective, randomized, double-blind controlled trial demonstrated that NMUS, when added to electrodiagnostic testing, resulted in improved clinical outcomes after 6 months of follow-up. From this study, we abstracted quality-adjusted life-years (QALYs) from the 36-item Short Form Health Survey and entered this health-utility estimate into a mixed trial and model-based cost-effectiveness analysis from the societal perspective. Costs of intervention (NMUS) were estimated from Medicare payment rates for Current Procedural Terminology codes. Health care use was otherwise estimated to be equal, but sensitivity analyses further examined this and other key assumptions. Incremental cost-effectiveness ratio (ICER) was used as the primary outcome with a willingness-to-pay threshold of $50,000 per QALY.ResultsThe predicted mean health outcome associated with use of NMUS was 0.079 QALY, and the mean cost was $37, resulting in an ICER of $463 per QALY. Results and conclusions remained robust across all sensitivity analyses, including variations in time horizon, initial distribution of health states, costs, and effectiveness.ConclusionsFrom a societal perspective, the addition of NMUS to electrodiagnostic testing when evaluating a focal neuropathy is cost-effective. A study of longer follow-up incorporating total health care use would further quantify the value of NMUS.ClinicalTrials.gov identifier:NCT01394822.

BACKGROUND AND PURPOSE There is a lack of consensus in the literature as to which body habitus parameter most influences nerve cross-sectional area (CSA). This study was specifically designed to determine if height or weight is more influential. METHODS Fifteen young healthy participants, 8 extremely tall and 7 heavy, with no peripheral nerve symptoms were recruited. The tall cohort consisted of males who were 74 inches or taller and females who were 68 inches or taller. The heavy cohort consisted of males who were 274 lbs or heavier and females who were 200 lbs or heavier. Measurements were obtained bilaterally at 7 sites using neuromuscular ultrasound: median nerve at the wrist and mid-forearm, ulnar at the elbow, radial at the spiral groove, fibular at the knee, tibial at the ankle, and sural at the ankle. The nerve CSA at each site was measured by tracing of the nerve using the "freehand" trace function of the ultrasound device. RESULTS Weight tightly correlated with nerve CSA (R2 = .69, P < .001), while height did not significantly predict CSA (R2 = .10, P = .244). Nerve CSA for tall participants did not systematically deviate from an historical control group. Conversely, with exception of the tibial and sural nerves at the ankle, all nerve CSAs for heavy participants were higher than in the control group. CONCLUSION Weight was found to be the body habitus parameter that most influences nerve CSA. This will inform clinicians when using nerve imaging to evaluate participants at either extreme of weight.

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.

Item does not contain fulltext Neuromuscular ultrasound is a rapidly evolving specialty with direct application for patient care. Competency assessment is an essential standard needed to ensure quality for practitioners, particularly for those newly acquiring skills with the technique. Our aim was to survey experts' opinions regarding physician competency assessment of neuromuscular ultrasound and to identify minimal competency of knowledge and skills. The opinions of 18 experts were obtained through the Delphi method using two consecutive electronic surveys. A high degree of consensus was achieved on items regarding framework and the conduct of neuromuscular ultrasound assessment and the knowledge and skills that a candidate needs to attain minimal competency in neuromuscular ultrasound. In this study, a group of neuromuscular ultrasound experts developed a general framework for neuromuscular ultrasound competency assessment and recommended testable areas of knowledge and skills suitable for establishing minimal competency.

One barrier to widespread adoption of neuromuscular ultrasound by clinical neurophysiologists is concern over how to identify and manage non-neuromuscular findings. This review addresses this concern by describing the sonographic appearance of a variety of commonly observed pathologies and anatomic variants in dermal, subcutaneous, bony, glandular, lymphatic, vascular, and other superficial tissues. Additionally, it outlines techniques to ensure proper clinical and ultrasound evaluation of unexpected or uncommon findings. Finally, it highlights strategies to manage unexpected findings, including how to best communicate findings to patients and referring clinicians to avoid unnecessary testing and ensure appropriate follow-up. Ultrasound extends the ability of the neuromuscular sonographer-clinician to contribute to patient care.

SUMMARY: PURPOSE: Laryngeal dystonia is a chronic neurologic disorder characterized by intention-induced spasms of the vocal folds driven by aberrant central motor processing. The use of in-office transcervical botulinum toxin injection for the treatment of laryngeal disorders, such as laryngeal dystonia, has been deemed safe and efficacious. There is, however, no available data outlining the hemodynamic changes experienced by patients undergoing this frequently performed procedure. METHODS: One hundred and one patients diagnosed with laryngeal dystonia were enrolled in this prospective study. These patients underwent transcervical laryngeal botulinum toxin injection to address their dysphonia. Vital signs where acquired prior to, and at the time of injection. Alterations in these parameters were then evaluated for statistical significance. RESULTS: Statistically significant increases in mean heart rate (5.8 ± 10.8 bpm, p

Limitation of functional ability is a major feature of Huntington's disease (HD). The International Parkinson and Movement Disorder Society (MDS) commissioned the appraisal of the use and clinimetric properties of clinical measures of functional ability that have been applied in HD studies and trials to date, to make recommendations regarding their use based on standardized criteria. After a systematic literature search, we included a total of 29 clinical measures grouped into two categories: (1) performance-based measures (e.g., balance, walking, and reaching/grasping), and (2) rating scales. Three performance-based measures are rated as "recommended": the Tinetti Mobility Test for screening of fall risk and for severity assessment of mobility in patients with manifest HD (up to stage III); the Berg Balance Scale for severity of balance impairment; and the Six-Minute Walk Test for assessment of walking endurance (severity) in HD subjects with preserved ambulation. No rating scale targeting functional ability reached a "recommended" status either for screening or severity measurement. The main challenges identified in this review include applying widely accepted conceptual frameworks to the identified measures, the lack of validation of clinical measures to detect change over time, and absence of validated measures for upper limb function. Furthermore, measures of capacity or ability to perform activities of daily living had ceiling effects in people with early and pre-manifest HD. We recommend that the MDS prioritize the development of new scales that capture small, but meaningful changes in function over time for outcome assessment in clinical trials, particularly in earlier stages of HD.

The compromise of quality of life in Huntington's disease is a major issue, both for individuals with the disease as well as for their caregivers. The International Parkinson and Movement Disorder Society commissioned a review of the use and clinimetric validation status of measures used in Huntington's disease to assess aspects related with quality of life and to make recommendations on their use following standardized criteria. We included both patient‐centered measures (patient health‐related quality‐of‐life measures) and caregiver‐centered measures (caregiver quality‐of‐life measures). After conducting a systematic literature search, we included 12 measures of patient health‐related quality of life and 2 measures of caregiver quality of life. Regarding patient‐centered measures, the Medical Outcomes Study 36‐Item Short‐Form Health Survey is “recommended” as a generic assessment of health‐related quality of life in patients with Huntington's disease. The 12‐Item Short Form Health Survey, the Sickness Impact Profile, the 12‐item World Health Organization Disability Assessment Schedule, and the Huntington's Disease Health‐Related Quality of Life questionnaire are “suggested.” No caregiver‐centered quality‐of‐life measure obtained a “recommended” status. The Alzheimer's Carer's Quality of Life Inventory and the Huntington's Disease Quality of Life Battery for Carers are “suggested.” Recognizing that the assessment of patient health‐related quality of life can be challenging in Huntington's disease, as patients may lack insight and there is insufficient clinimetric testing of these scales, the committee concluded that further validation of currently available health‐related quality‐of‐life measures should be undertaken, namely, those Huntington's disease–specific health‐related quality‐of‐life measures that have recently been reported and used.

INTRODUCTION Ultrasound can potentially identify nerves and guide recording and stimulating electrode placement for nerve conduction studies (NCS). This prospective study was performed to determine whether ultrasound guidance of sural NCS results in higher action potential amplitude, fewer stimuli required, lower stimulus strength required, and less pain experienced. METHODS Fourteen healthy individuals underwent bilateral sural NCS, both with and without ultrasound guidance. Studies were separated by at least 48 h, and the order of testing was randomly assigned. RESULTS Ultrasound guidance resulted in significantly fewer stimuli and lower stimuli strength required to obtain supramaximal responses (P

Objective We compared patterns of olfactory function over 2 years in pesticide-exposed male Latino farmworkers and male Latino workers in industries without pesticide exposure. Methods At five points over 2 years, workers completed tests of odor threshold (16 concentrations of n-butanol) using a well-established methodology. Tests at two or more time points were completed by 156 farmworkers and 118 non-farmworkers. Results Farmworkers required significantly higher odorant concentrations at Contact 1 and across the 2-year follow-up to detect the odor. When adjusted for Contact 1, between-group differences persisted, but odor threshold performance did not worsen over time. Conclusions Pesticide exposure has been linked to neurodegenerative disease, as has declining olfactory function. Persistently poorer olfactory function among pesticide-exposed workers suggests the need to monitor neurological function in this vulnerable worker population.

BACKGROUND AND PURPOSE Autonomic neuropathy is a serious and common complication of diabetes mellitus. The vagus nerve is the longest autonomic nerve, and may be affected in diabetes as a part of generalized neuropathy. Our objective was to assess for possible sonographic changes of the vagus nerve in diabetic patients. METHODS The vagus nerve was bilaterally scanned in 20 healthy volunteers and 54 patients with diabetes in the axial plane at the lateral neck. RESULTS The mean cross-sectional area of the vagus nerve was significantly smaller in patients with diabetes compared with controls. Receiver operating characteristic curve analyses revealed an area under the curve of .96, and an optimum cutoff point of 3 mm2 with a sensitivity of 85.2% and specificity of 100%. CONCLUSIONS This study demonstrates a degree of vagus nerve atrophy in patients with diabetes. This finding may have relevance in the diagnosis and treatment of diabetic neuropathy if further validated.

Some patients with chronic inflammatory demyelinating polyradiculoneuropathy who respond to initial intravenous immunoglobulin require repeated courses over prolonged periods of time; however, evidence to guide dosage and interval of intravenous immunoglobulin during maintenance therapy is limited. Optimizing treatment requires assessment of underlying disease activity and clinical outcome. Electrophysiological measures of demyelination, and clinical measures using handgrip strength and walking velocity promise to be particularly informative. Major advances in resolution and image processing have expanded clinical applications for ultrasound to include the study of peripheral nerves. Ultrasonography shows promise in diagnosing chronic inflammatory demyelinating polyradiculoneuropathy and distinguishing it from other conditions, providing first ever insight into gross pathology of peripheral nerves. Ultrasonography may also have a role in monitoring disease activity and treatment response.

Introduction An ultrahigh-frequency (70 MHZ) ultrasound device has recently been approved for human use. This study seeks to determine whether this device facilitates counting of fascicles within the median nerve at the wrist. Methods Twenty healthy volunteers underwent imaging of the median nerve at the wrist bilaterally. The number of fascicles in each nerve was counted by two independent raters. Results The mean fascicle number was 22.68. Correlation was strong between the two raters (r = 0.68, P < 0.001). Age, sex, body mass index, and nerve area did not predict fascicle number. Those with bifid median nerves and persistent median arteries had lower fascicle density than those without anatomic anomalies (1.79 vs. 2.29; P = 0.01). Discussion Fascicles within the median nerve at the wrist can be readily imaged. Ultrahigh-frequency ultrasound technology may be informative in a variety of disorders affecting the peripheral nervous system. Muscle Nerve 56: 819–822, 2017

Neuromuscular ultrasound is a distinct specialty concerned with the assessment of primary neuromuscular disorders using high-resolution ultrasonography. Ultrasound allows the assessment of the structural and anatomical aspect of the peripheral nervous system and thus complements the electrodiagnostic tests which assess the functional aspect. Given its many advantages, neuromuscular ultrasound is an attractive diagnostic, interventional, and follow-up tool in children with neuromuscular disorders. The applications of neuromuscular ultrasound in children are not fully explored but the future is promising. In this chapter, we present the principles of neuromuscular ultrasound, the general scanning techniques of peripheral nerves and skeletal muscles, the scanning protocols in nerve and muscle disorders, and the value of neuromuscular ultrasound in different pediatric neuromuscular diseases in addition to highlights on advanced ultrasound techniques, ultrasound-guided procedures, and future directions. The detailed hands-on scanning techniques of all peripheral nerves and muscles are out of scope of this chapter and are best learned through hands-on courses and workshops.

BACKGROUND: Our study aim was to evaluate neuromuscular ultrasound (NMUS) for the assessment of taxane chemotherapy-induced peripheral neuropathy (CIPN), the dose-limiting toxicity of this agent. METHODS: This cross-sectional study of breast cancer patients with taxane CIPN measured nerve cross-sectional area (CSA) by NMUS and compared with healthy historical controls. Correlations were determined between CSA and symptom scale, nerve conduction studies, and intraepidermal nerve fiber density (IENFD). RESULTS: A total of 20 participants reported moderate CIPN symptoms at a median of 3.8 months following the last taxane dose. Sural nerve CSA was 1.2 mm(2) smaller than healthy controls (P ≤ .01). Older age and time since taxane were associated with smaller sural nerve CSA. For each 1 mm(2) decrease in sural nerve CSA, distal IENFD decreased by 2.1 nerve/mm (R(2) 0.30; P = .04). CONCLUSIONS: These data support a sensory predominant taxane neuropathy or neuronopathy and warrant future research on longitudinal NMUS assessment of CIPN.

Neuromuscular ultrasound has become an essential tool in the diagnostic evaluation of various neuromuscular disorders, and, as such, there is growing interest in neuromuscular ultrasound training. Effective training is critical in mastering this modality. Our aim was to develop consensus-based guidelines for neuromuscular ultrasound training courses. A total of 18 experts participated. Expert opinion was sought through the Delphi method using 4 consecutive electronic surveys. A high degree of consensus was achieved with regard to the general structure of neuromuscular ultrasound training; the categorization of training into basic, intermediate, and advanced levels; the learning objectives; and the curriculum for each level. In this study, a group of neuromuscular ultrasound experts established consensus-based guidelines for neuromuscular ultrasound training. These guidelines can be used in the development of the specialty and the standardization of neuromuscular ultrasound training courses and workshops.

Migrant tobacco farmworkers experience regular occupational exposure to pesticides and nicotine. The present study was designed to determine whether there are differences in brain anatomy between Latino farmworkers and non-farmworkers.Magnetic resonance brain images were compared between farmworkers and non-farmworkers. In addition, blood cholinesterase activity and urinary cotinine levels were also used to identify associations with pesticide and nicotine exposure.Farmworkers had greater gray matter signal in putamen and cerebellum, and lower gray matter signal in frontal and temporal lobes. Urinary cotinine was associated with the observed differences in brain anatomy, but blood cholinesterase activity was not.Nicotine exposure was associated with neuroanatomical differences between Latino farmworkers and non-farmworkers. Future studies are needed to differentiate iron deposition from brain atrophy and to further assess the potential role of nicotine and pesticide exposure.

We compared olfactory function in pesticide-exposed Latino farmworkers and nonfarmworkers to explore its use as a subclinical indicator of neurological pesticide effects.We recruited 304 current farmworkers and 247 nonfarmworkers. All completed odor identification (14 odors) and threshold tests (16 concentrations of n-butanol) using a well-established methodology.Farmworkers reported significantly greater lifetime pesticide exposure. Performance on both olfactory tests declined with age. Odor identification performance did not differ between groups. For odor threshold, farmworkers needed significantly higher concentrations to detect the odor. Results were unchanged when adjusted for sex, age, and smoking.Olfactory function differences between farmworkers and nonfarmworkers suggest possible neurological effects. Because declining olfactory function is an early symptom of Parkinson disease and related conditions, it is a possible subclinical indicator of neurodegenerative disease in this vulnerable worker population.

Introduction The association between musculoskeletal injuries and carpal tunnel syndrome (CTS) has not been investigated in a large, population-based study. Methods Latino manual laborers were recruited as part of a study of work-related health conditions. Each had a clinical examination, completed a hand diagram, and had nerve conduction studies. Results A total of 512 individuals completed all testing. An association was found between rotator cuff syndrome and CTS, with an adjusted odds ratio of 2.25 (P = 0.01) for the right arm, 2.08 (P = 0.03) for the left arm, and 1.84 (P = 0.03) for all individuals. Associations between epicondylitis and CTS did not reach statistical significance. Conclusions Individuals with rotator cuff syndrome have a higher prevalence of CTS. Further investigations will be needed to examine for causation and to determine if 1 condition typically occurs first and leads to the other. Muscle Nerve 54: 31-35, 2016.

BackgroundThe huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments.ObjectiveThis prospective observational study defined the frequency at which rs362307 (SNP1) or rs362331 (SNP2) was found on the same allele with pathogenic CAG expansions.MethodsAcross 7 US sites, 202 individuals with HD provided blood samples that were processed centrally to determine the number and size of CAG repeats, presence and heterozygosity of SNPs, and whether SNPs were present on the mutant HTT allele using long-read sequencing and phasing.ResultsHeterozygosity of SNP1 and/or SNP2 was identified in 146 (72%) individuals. The 2 polymorphisms were associated only with the mHTT allele in 61% (95% high density interval: 55%, 67%) of individuals.ConclusionsThese results are consistent with previous reports and demonstrate the feasibility of genotyping, phasing, and targeting of HTT SNPs for personalized treatment of HD.

Introduction Nerve conduction studies (NCS) are sensitive for carpal tunnel syndrome (CTS), but a small proportion of patients with clinical CTS have normal NCS. This retrospective study was designed to assess the neuromuscular ultrasound findings in a group of CTS patients. Methods The electronic medical record was reviewed by a neurologist to identify patients who had a diagnosis of CTS with normal NCS, including either mixed median–ulnar comparison or transcarpal sensory studies, and complete neuromuscular ultrasound evaluation for CTS. Results Fourteen individuals (22 wrists) met all criteria. A total of 92.3% had median nerve cross-sectional area enlargement at the wrist (mean 16.3 mm2), 100% had increased wrist-to-forearm median nerve area ratio (mean 2.4), 82.4% had decreased median nerve echogenicity, 75.0% had decreased median nerve mobility, and 7.1% had increased median nerve vascularity. Conclusion A large proportion of patients with clinical CTS but normal NCS have abnormal neuromuscular ultrasound findings. Muscle Nerve 55: 913–915, 2017

Inclusion body myositis (IBM) can have clinical and electrodiagnostic features similar to other neuromuscular diseases, making it a diagnostic challenge. This prospective study was designed to determine the accuracy of forearm ultrasound for IBM.Sixty adults were recruited (15 with IBM, 15 with amyotrophic lateral sclerosis [ALS], 15 with other myopathies, and 15 healthy controls), and each underwent ultrasound of the bilateral forearms (imaging the flexor digitorum profundus and flexor carpi ulnaris muscles). Three clinicians with varying ultrasound expertise assigned a diagnosis of IBM, ALS, other myopathy, or control, based on images alone.Intrarater reliability was moderately strong. Interrater reliability varied based on clinician experience. Sensitivity was 73.33% and 66.67% for the expert raters. Specificity was strong for all 3 clinicians (93.33%, 84.44%, and 91.11%).Neuromuscular ultrasound of the forearm is reliable and accurate for the diagnosis of IBM, although sensitivity was higher among experienced clinicians. Muscle Nerve 59:478-481, 2019.

Background: In cubital tunnel syndrome (CuTS), chronic compression often occurs at the origin of the flexor carpi ulnaris at the medial epicondyle. Motor nerve conduction velocity (NCV) across the elbow is assessed preoperatively to corroborate the clinical impression of CuTS. The purpose of this study was to correlate preoperative NCV to the direct measurements of ulnar nerve size about the elbow at the time of surgery in patients with clinical and/or electrodiagnostic evidence of CuTS. Methods: Data from 51 consecutive patients who underwent cubital tunnel release over a 2-year period were reviewed. Intraoperative measurements of the decompressed nerve were taken at 3 locations: at 4 cm proximal to the medial epicondyle, at the medial epicondyle, and at the distal aspect of Osborne fascia at the flexor aponeurotic origin. Correlation analysis was performed comparing nerve size measurements to slowing of ulnar motor nerve conduction velocities (NCV) below the normal threshold of 49 m/s across the elbow. Results: Enlargement of the ulnar nerve at the medial epicondyle and nerve compression at the flexor aponeurotic origin was a consistent finding. The mean calculated cross-sectional area of the ulnar nerve was 0.21 cm2 above the medial epicondyle, 0.30 cm2 at the medial epicondyle, and 0.20 cm2 at the flexor aponeurotic origin ( P < .001). There was an inverse correlation between change in nerve diameter and NCV slowing ( r = −0.529, P < .001). Conclusions: For patients with significantly reduced preoperative NCV and clinical findings of advanced ulnar neuropathy, surgeons can expect nerve enlargement, all of which may affect their surgical decision-making.

Item does not contain fulltext Over the last two decades, dozens of applications have emerged for ultrasonography in neuromuscular disorders. We wanted to measure its impact on practice in laboratories where the technique is in frequent use. After identifying experts in neuromuscular ultrasound and electrodiagnosis, we assessed their use of ultrasonography for different indications and their expectations for its future evolution. We then identified the earliest papers to provide convincing evidence of the utility of ultrasound for particular indications and analyzed the relationship of their date of publication with expert usage. We found that experts use ultrasonography often for inflammatory, hereditary, traumatic, compressive and neoplastic neuropathies, and somewhat less often for neuronopathies and myopathies. Usage significantly correlated with the timing of key publications in the field. We review these findings and the extensive evidence supporting the value of neuromuscular ultrasound. Advancement of the field of clinical neurophysiology depends on widespread translation of these findings.

Introduction: Neuromuscular ultrasound is valid, reliable, and accurate, but it is not known whether combining it with electrodiagnostic studies leads to better outcomes in individuals with focal neuropathies. Methods: One hundred twenty individuals with focal neuropathy, based on history, examination, and electrodiagnosis, were enrolled in this study. All patients underwent neuromuscular ultrasound and were randomized to either have their ultrasound results sent to the referring physician or not have them sent. Outcomes were assessed at 6 months by evaluators blinded to group assignment. Results: The Overall Disability Sum Score and 7 of 8 domains of the Medical Outcomes Study 36-item Short-Form Health Survey (SF-36) showed more improvement in the “report sent” group, although only the general health perception domain was significant (P = 0.005). Conclusions: Most 6-month outcomes did not reach statistical significance between the 2 groups. However, the “report sent” group had trends toward better outcomes, with significance being reached in the general health perception domain of the SF-36. Muscle Nerve 52: 746–753, 2015

Sleep problems are associated with physical and mental health disorders and place individuals at an increased risk of workplace injuries. The demand-control-support model posits that job demands and the capacity to control work processes influence workers' level of distress, thereby affecting their physical and mental health; supervisor support can buffer the negative effect of high demands and low control. Data on the sleep quality and the organization of work of Latino men were collected in agricultural areas in North Carolina in 2012. 147 Mexican-born farmworkers ages 30 and older, most of whom had H-2A visas, provided information about sleep quality and organization of work. Most (83 %) farmworkers reported good sleep quality. The association between working more than 40 h per week and reporting poor sleep quality approached statistical significance. Additional research is needed to understand whether job demands, job control, and social support affect farmworkers' sleep quality.

BACKGROUND AND PURPOSE Neuromuscular ultrasound of the cranial nerves is an emerging field which may help in the assessment of cranial neuropathies. The aim of this study was to evaluate the role of neuromuscular ultrasound in Bell's palsy. A second objective was to assess the possibility of any associated vagus nerve abnormality. METHODS Twenty healthy controls and 12 Bell's palsy patients were recruited. The bilateral facial nerves, vagus nerves, and frontalis muscles were scanned using an 18 MHz linear array transducer. Facial nerve diameter, vagus nerve cross-sectional area, and frontalis thickness were measured. RESULTS Mean facial nerve diameter was .8 ± .2 mm in controls and 1.1 ± .3 mm in patients group. The facial nerve diameter was significantly larger in patients than controls (P = .006, 95% CI for the difference between groups of .12-.48), with a significant side-to-side difference in patients as well (P = .004, 95% CI for side-to-side difference of .08-.52). ROC curve analysis of the absolute facial nerve diameter revealed a sensitivity of 75% and a specificity of 70%. No significant differences in vagus nerve cross-sectional area or frontalis thickness were detected between patients and controls. CONCLUSIONS Ultrasound can detect facial nerve enlargement in Bell's palsy and may have a role in assessment, or follow-up, of Bell's palsy and other facial nerve disorders. The low sensitivity of the current technique precludes its routine use for diagnosis, however, this study demonstrates its validity and potential for future research.

High-resolution ultrasound has made it possible to view most nerves and muscles in real time and to identify pathologic change in size, echo texture, and vascularity. This article focuses on the principles underlying ultrasound imaging and the application of ultrasound imaging to clinical disorders commonly seen in an electrodiagnostic laboratory.Ultrasound is a sensitive and specific tool for evaluating myopathic and neurogenic muscle disease. It provides useful information about muscles difficult to study with other technologies, such as the tongue and diaphragm, and is also helpful in evaluating smaller muscles in the hands or feet where correlation with electrodiagnostic studies is possible. For nerves, the resolution of ultrasound is such that it can sensitively identify focal nerve enlargement, which is accurate in the diagnosis of entrapment neuropathies. Furthermore, it can recognize diffuse or multifocal nerve enlargement seen in hereditary and inflammatory neuropathies.Neuromuscular ultrasound is an informative noninvasive tool for evaluating nerve and muscle disease. As the technology continues to advance and becomes widely available, it may become a routine part of residency training, neuromuscular research, and clinical practice.

Purpose of review:The use of ultrasonography for diagnosis of neuromuscular disorders is a relatively new but rapidly expanding field. This review covers key ultrasound findings in primary disease of muscle and nerve.Recent findings:Ultrasonography is used routinely for evaluation of entrapment neuropathies, hereditary and inflammatory neuropathies, polyneuropathies, myopathies, and motor neuron disease. When used in association with other electrodiagnostic testing, ultrasound has allowed physicians to increase the yield of clinical evaluation in diagnostic laboratories.Summary:While ultrasonography has not yet replaced the need for electrodiagnostic studies, it has become a useful accompaniment.

This analysis uses a longitudinal design to examine the associations of work organization and health outcomes among Latino manual workers. Participants included 247 Latino workers who completed baseline and 1-year follow-up interviews and clinical examinations. Health outcome measures were epicondylitis, rotator cuff syndrome, back pain, and depressive symptoms. Independent measures were measures of job demand, job control, and job support. Workers commonly experienced rotator cuff syndrome (6.5%), back pain (8.9%), and depressive symptoms (11.2%); fewer experienced epicondylitis (2.4%). Psychological demand was associated with rotator cuff syndrome; awkward position and decision latitude were associated with back pain. Decreased skill variety but increased decision latitude was associated with elevated depressive symptoms. Work context factors are important for health outcomes among vulnerable workers. Further research is needed to expand upon this work, particularly cultural perspectives on job ...

Introduction: The aim of this study was to determine whether there is an association between flexor digitorum and lumbrical muscle intrusion into the carpal tunnel and carpal tunnel syndrome (CTS). Methods: Five hundred thirteen manual laborers (1026 wrists) were evaluated with ultrasound to determine whether those with CTS had more muscle intrusion into the carpal tunnel than those without CTS. One hundred ninety of the participants without CTS at baseline (363 wrists) were followed over 1 year to determine whether muscle intrusion at baseline predicted the development of CTS. Results: Participants with CTS had more muscle within the carpal tunnel with the wrist in the neutral (P = 0.026) and flexed (P = 0.018) positions than those without CTS. Baseline muscle intrusion did not predict development of CTS at 1 year. Conclusions: Muscle intrusion into the carpal tunnel is associated with CTS, but muscle intrusion alone does not predict the development of CTS over the course of a year. Muscle Nerve 50: 517–522, 2014

Background Pesticide exposure poses a health risk for farmworkers. This analysis documents lifetime and current pesticide exposure of North Carolina Latino migrant farmworkers, with comparison to non-farmworker Latino immigrants. Methods During May to October 2012, 235 Latino farmworkers and 212 Latino non-farmworkers completed interviews with items to construct measures of lifetime, current residential and occupational pesticide exposure. Results Farmworkers experience levels of lifetime and residential pesticide exposure that are consistently greater than among non-farmworkers. Farmworkers report a large number of occupational pesticide exposures. Lifetime exposure and current residential pesticide exposure are related to social determinants. Education is inversely related to lifetime pesticide exposure for farmworkers and non-farmworkers; farmworkers with H-2A visas report greater residential pesticide exposure than those without H-2A visas. Conclusions Occupational safety policy needs to consider these patterns of lifetime exposure when setting standards. Health care providers should be aware of the lifetime and current exposure of this vulnerable population. Am. J. Ind. Med. 57:776–787, 2014. © 2014 Wiley Periodicals, Inc.

BACKGROUND: This analysis examines the associations of work organization attributes among Latino women in manual occupations with musculoskeletal and neurological injuries. METHODS: Participants included 234 women in western North Carolina. Outcome measures included epicondylitis, rotator cuff syndrome, back pain, and carpal tunnel syndrome. Independent measures included indicators of job demand, job control, and job support, as well as personal characteristics. RESULTS: Latina workers commonly experienced epicondylitis, rotator cuff syndrome, back pain, and CTS. Awkward posture and decision latitude were associated with epicondylitis. Rotator cuff syndrome was associated with awkward posture and psychological demand. Awkward posture and psychological demand, and decreased skill variety and job control were related to CTS. CONCLUSIONS: Work organization factors are potentially important for musculoskeletal and neurological injury among vulnerable workers. Research is required to understand the associations of work and health outcomes of these women. Policy initiatives need to consider how work organization affects health. Am. J. Ind. Med. 9999:1-8, 2014. © 2014 Wiley Periodicals, Inc. Language: en

e23152 Background: Chemotherapy-induced peripheral neuropathy (CIPN) is a dose-limiting toxicity for breast cancer patients that leads to early treatment discontinuation and worse outcomes. Neuromuscular ultrasound (NMUS) is a non-invasive assessment of peripheral nerves that has not been studied in taxane CIPN. Methods: This cross-sectional study enrolled breast cancer patients with subjective complaints of CIPN symptoms during or after taxane chemotherapy and compared nerve cross-sectional area (CSA) by NMUS with historical values in 120 healthy adults. Findings were correlated with self-reported symptom scale (EORTC-QLQ CIPN20, range 0-72, higher more severe); nerve conduction studies; and skin biopsies for intraepidermal nerve fiber density (IENF). Results: We evaluated 20 participants (mean 55.4 ± 10.5 yrs) with NMUS at 74 nerve sites after median 3.7 months (IQR 1.0-6.1) since last taxane (paclitaxel 10, docetaxel 8, nab-paclitaxel 2). Participants reported moderate-to-severe CIPN symptoms which were predominantly sensory (19.1 ±4.9, max 32) as opposed to motor (15.6 ±5.8, max 32) or autonomic (3.3 ±1.6, max 8). Sural sensory nerve CSA was 1.2 mm2 smaller than in historical controls (4.1 vs. 5.3 mm2, 2-sample t-test p = 0.005) and decreased with more days from last taxane (Spearman’s r -0.46, p = 0.04). Tibial motor nerve was not significantly different from controls (p = 0.35). Median nerve CSA was enlarged at the distal wrist crease entrapment site (12.5 vs 10.1, p = 0.03). Older age was associated with smaller sural CSA (r = -0.72, p < 0.001). When controlling for age and days from last taxane, for each 1mm2 decrease in sural CSA, distal IENF reduced by 2.1 nerve/mm2 (p = 0.04, R2 = 0.30). Conclusions: NMUS showed expected sensory predominant distal axonopathy in taxane CIPN. Evaluation of nerve CSA by non-invasive NMUS may serve as an objective point-of-care assessment to risk-stratify women with taxane CIPN prior to the development of debilitating symptoms. Clinical trial information: NCT03139435. [Table: see text]

Introduction: We describe a unique method that combines ultrasound and electromyography to guide intra- muscular diaphragm injections in anesthetized large animals. Methods: Ultrasound was used to visualize the diaphragm on each side of spontaneously breathing, anesthetized beagle dogs and cynomolgus macaques. An electromyography (EMG) needle was introduced and directed by ultrasound to confirm that the needle entered the muscular portion of the diaphragm, and methylene blue was injected. Injection accuracy was con- firmed upon necropsy by tracking the spread of methylene blue. Results: All methylene blue injections were confirmed to have been placed appropriately into the diaphragm. Conclusions: This study demonstrates the feasibility and accuracy of using ultrasound and EMG to guide injections and to reduce compli- cations associated with conventional blind techniques. Ultra- sound guidance can be used for clinical EMG of the diaphragm. Future applications may include targeted diaphragm injections with gene replacement therapy in neuromuscular diseases. Muscle Nerve 51: 287-289, 2015 Needle electromyography (EMG) of the dia- phragm is usually done blindly using techniques guided only by anatomic landmarks. 1 It can be challenging due to the thinness of the diaphragm muscle and its proximity to the lung and liver. The possible complications include pneumothorax caused by inadvertent lung puncture or liver hema- toma. 2 Ultrasound imaging provides excellent non- invasive direct and real-time visualization of soft tis- sue with good distinction of anatomic landmarks, fascial planes, and neurovascular structures adja- cent to the intended target. Recent advances in technology have made high-resolution ultrasound machines affordable, portable, and widely available for a variety of clinical applications. Direct visual- ization of the diaphragm in real time using ultraso- nography can be particularly helpful, given the dynamic nature of the diaphragm muscle. The util- ity of diaphragm ultrasound has been reported recently in animals. 3-5 We describe a unique method that combines real-time ultrasound and EMG to guide intramuscular diaphragm injections in anesthetized large animals. METHODS

Disulfiram toxicity can cause multiple neurologic problems, including a reversible distal sensorimotor axonal polyneuropathy. Although electrodiagnosis and biopsy results have been described in the diagnosis and management of patients with disulfiram associated polyneuropathy, neuromuscular ultrasound findings have not been reported. The authors present a case of electrodiagnostically confirmed axonal polyneuropathy with relative sural sparing secondary to disulfiram and describe the neuromuscular ultrasound findings in this individual. Ultrasound demonstrated distal enlargement with slight side-to-side asymmetry and normal proximal cross-sectional area in the lower extremity nerves. Neuromuscular ultrasound is another diagnostic modality that may be used to assist in the diagnosis of patients with polyneuropathy secondary to disulfiram.

Neuromuscular ultrasound involves the use of high-resolution ultrasound to image the peripheral nervous system of patients with suspected neuromuscular diseases. It complements electrodiagnostic studies well by providing anatomic information regarding nerves, muscles, vessels, tendons, ligaments, bones, and other structures that cannot be obtained with nerve conduction studies and electromyography. Neuromuscular ultrasound has been studied extensively over the past 10 years and has been used most often in the assessment of entrapment neuropathies. This review focuses on the use of neuromuscular ultrasound in 4 of the most common entrapment neuropathies: carpal tunnel syndrome, ulnar neuropathy at the elbow and wrist, and fibular neuropathy at the knee.

Objective To determine the incidence of carpal tunnel syndrome (CTS) over 1 year in Latino poultry processing workers. Methods Symptoms and nerve conduction studies were used to identify Latino poultry processing workers (106 wrists) and Latinos in other manual labor occupations (257 wrists) that did not have CTS at baseline, and these individuals were then evaluated in the same manner 1 year later. Results Based on wrists, the 1-year incidence of CTS was higher in poultry processing workers than non-poultry manual workers (19.8% vs. 11.7%, P = 0.022). Poultry workers had a higher odds (1.89; P = 0.089) of developing CTS over 1 year compared to non-poultry manual workers. Discussion Latino poultry processing workers have an incidence of CTS that is possibly higher than Latinos in other manual labor positions. Latino poultry workers' high absolute and relative risk of CTS likely results from the repetitive and strenuous nature of poultry processing work. Am. J. Ind. Med. 57:362–369, 2014. © 2013 Wiley Periodicals, Inc.

Introduction: The prevalence of bifid median nerves and persistent median arteries, their co-occurrence, and their relationship to carpal tunnel syndrome (CTS) are only understood partially. Methods: We screened 1026 wrists of 513 Latino manual laborers in North Carolina for bifid median nerves and persistent median arteries using electrodiagnosis and ultrasound. Results: A total of 8.6% of wrists had a bifid median nerve, and 3.7% of wrists had a persistent median artery independent of subgroup ethnicity, age, gender, or type of work. An association with definite carpal tunnel syndrome was not found. The presence of either anatomic variant was associated with a high likelihood of co-occurrence of another variant in the same or the contralateral wrist. Conclusions: The occurrence of median anatomic variants can be determined in field studies using ultrasound. Persistent median arteries and bifid median nerves tend to co-occur but do not put manual laborers at additional risk of developing CTS. Abbreviations BMI: body mass index BMN: bifid median nerve CTS: carpal tunnel syndrome

Introduction: Nerve cross-sectional area reference values have been reported for many nerves, but there have been few studies in pediatric and geriatric populations. This study was conducted to determine the influence of age on nerve cross-sectional area. Methods: Thirty-two children (3 months to 16 years) and 20 geriatric adults (67–92 years) without known neurologic conditions underwent bilateral ultrasound to measure the area of the following nerves: median at the wrist and forearm; ulnar at the wrist and elbow; radial in the spiral groove; sciatic in the distal thigh; fibular at the knee; tibial at the knee and ankle; and sural at the ankle. Results: In general, nerve cross-sectional area increased with age. Nerve size correlated most closely with age, but a correlation was also seen with body mass index. Conclusions: Nerve cross-sectional area increases with age, which is important to note when using ultrasound to evaluate children and geriatric patients. Muscle Nerve 47: 890–893, 2013