The role of electrodiagnosis in focal neuropathies.

Electrodiagnostic (EDX) testing plays an important role in confirming a mononeuropathy, localizing the site of nerve injury, defining the pathophysiology, and assessing the severity and prognosis. The combination of nerve conduction studies (NCS) and needle electromyography findings provides the necessary information to fully assess a nerve. The pattern of NCS abnormalities reflects the underlying pathophysiology, with focal slowing or conduction block in neuropraxic injuries and reduced amplitudes in axonotmetic injuries. Needle electromyography findings, including spontaneous activity and voluntary motor unit potential changes, complement the NCS findings and further characterize chronicity and degree of axon loss and reinnervation. EDX is used as an objective marker to follow the progression of a mononeuropathy over time.

Motor unit potential recruitment reference values in common upper and lower extremity muscles.

OBJECTIVE: To define reference values for motor unit (MU) recruitment during needle EMG of six commonly examined muscles at low to moderate contraction. METHODS: Needle examination was performed for each muscle in a total of 111 subjects without neuromuscular disorders. Fastest firing rates and recruitment ratios (RRs) were calculated in at least 5 sites within each muscle. Upper limits of normal based on 97th percentile for fastest MU firing rates and RRs were calculated for each muscle. The means of fastest firing rates were compared among muscles using the Friedman and Wilcoxon signed rank tests. RESULTS: The upper limits of normal were 12-15 Hz for fastest firing rates and were slightly higher in the deltoid and triceps than the other muscles. CONCLUSION: Firing rates >15 Hz recorded at multiple sites within a single muscle exceed the 97th percentile of normal subjects and may suggest reduced MU recruitment. In some muscles, rates >12 Hz might support mildly reduced recruitment. Recruitment ratios varied depending on number of firing MUs, whereas the fastest firing MU rate did not. SIGNIFICANCE: The determination of reference values for fastest MU firing rates can help to identify mild reduction in recruitment with more accuracy.

The utility of electrodiagnostic testing in unprovoked rhabdomyolysis in the era of next-generation sequencing.

INTRODUCTION/AIMS: Rhabdomyolysis is an etiologically heterogeneous, acute necrosis of myofibers characterized by transient marked creatine kinase (CK) elevation associated with myalgia, muscle edema, and/or weakness. The study aimed to determine the role of electrodiagnostic (EDX) testing relative to genetic testing and muscle biopsy in patients with unprovoked rhabdomyolysis in identifying an underlying myopathy. METHODS: EDX database was reviewed to identify unprovoked rhabdomyolysis patients who underwent EDX testing between January 2012 and January 2022. Each patient's clinical profile, EDX findings, muscle pathology, laboratory, and genetic testing results were analyzed. RESULTS: Of 66 patients identified, 32 had myopathic electromyography (EMG). Muscle biopsy and genetic testing were performed in 41 and 37 patients, respectively. A definitive diagnosis was achieved in 15 patients (11 myopathic EMG and 4 nonmyopathic EMG; p = .04) based on abnormal muscle biopsy (4/11 patients) or genetic testing (12/12 patients, encompassing 5 patients with normal muscle biopsy and 3 patients with nonmyopathic EMG). These included seven metabolic and eight nonmetabolic myopathies (five muscular dystrophies and three ryanodine receptor 1 [RYR1]-myopathies). Patients were more likely to have baseline weakness (p < .01), elevated baseline CK (p < .01), and nonmetabolic myopathies (p = .03) when myopathic EMG was identified. DISCUSSION: Myopathic EMG occurred in approximately half of patients with unprovoked rhabdomyolysis, more likely in patients with weakness and elevated CK at baseline. Although patients with myopathic EMG were more likely to have nonmetabolic myopathies, nonmyopathic EMG did not exclude myopathy, and genetic testing was primarily helpful to identify an underlying myopathy. Genetic testing should likely be first-tier diagnostic testing following unprovoked rhabdomyolysis.

Association of Complex Repetitive Discharges With Chronicity and Clinical Symptoms in Radiculopathies.

PURPOSE: Complex repetitive discharges (CRDs) are incompletely understood needle electromyography (EMG) waveforms seen in both myopathic and neurogenic disorders including radiculopathies. This study aimed to clarify the significance of CRDs in patients with radiculopathies. METHODS: This case-control study randomly identified 100 patients with needle EMG evidence of radiculopathy demonstrating at least one CRD in the electrodiagnostically involved myotome between January 2017 and January 2022. These patients were compared with 100 randomly selected patients with EMG evidence of radiculopathy without CRDs controlled for sex, age at EMG testing, and affected nerve root segment. Patient clinical symptoms, neurologic examination, EMG features, and imaging were analyzed. A paired sample t-test for categorial data and χ2 test for nonparametric data were used for statistical analysis with significance defined as P < 0.05. RESULTS: Patients with radiculopathies with CRDs had longer disease duration averaging 59 months (range 1-480) compared with patients with radiculopathies without CRDs averaging 26 months (range 1-192, P < 0.01). Clinical symptoms of paresthesias and weakness were both significantly more common in patients with radiculopathies with CRDs than those without CRDs (P < 0.01 and 0.01, respectively). Needle EMG demonstrated a greater average number of muscles with neurogenic motor unit potentials per radiculopathy in patients with radiculopathies with CRDs compared with those without CRDs. Imaging studies of patients with radiculopathies with CRDs were more likely to reveal evidence of nerve root compression (P < 0.01). CONCLUSIONS: The presence of CRDs in patients with radiculopathies is consistent with clinically more symptomatic radiculopathies and a longer duration of nerve root compromise.

Incidental complex repetitive discharges on needle electromyography.

INTRODUCTION/AIMS: Complex repetitive discharges (CRDs) are spontaneous electromyography (EMG) waveforms often associated with chronic neurogenic or myopathic diseases, but incidentally identified CRDs have also been described. In this study we describe the distribution and possible significance of incidentally seen CRDs in otherwise normal electrodiagnostic studies. METHODS: A retrospective chart review was performed of all patients with CRDs incidentally documented on otherwise normal electrodiagnostic studies at Mayo Clinic from January 2013 through December 2020. Each patient's clinical symptoms, referral reason, electrodiagnostic report, and imaging studies were analyzed using descriptive statistics. RESULTS: Ninety-four patients (86 females; mean age, 62 years; range, 20 to 86 years) and 107 CRDs were studied. The most common neuromuscular reasons for electrodiagnostic referrals included radiculopathy, peripheral neuropathy, and myopathy. Mean symptom duration was 43 months (range, 1 to 312 months). Eighty-five patients had a CRD identified in one muscle (range, in all patients, one to five muscles). CRDs were identified most frequently in tensor fasciae latae (n = 21), biceps brachii (n = 16), and gluteus maximus (n = 9). Of the 58 patients in whom imaging was available, 46 (79%) had abnormalities that corresponded to the myotome in which the CRDs were visualized, most commonly L5 (n = 19) and C6 (n = 12). Of these 46 patients, 28 (61%) were referred for radicular or limb pain. DISCUSSION: CRDs can be incidentally noted on otherwise normal electrodiagnostic studies, most commonly in L5 and C6 myotomes. The mechanism of CRDs in the absence of electrodiagnostic features of axon loss or remodeling is unknown.

Electrodiagnosis: How to Read Electromyography Reports for the Nonneurophysiologist.

An electrodiagnostic evaluation is a neurodiagnostic test commonly used to evaluate neuromuscular conditions. A typical electromyography (EMG) report consists of tabular data summarizing findings from nerve conduction studies (NCS) as well as needle EMG (nEMG). A text summary of these findings is also included, followed by a clinical interpretation that evaluates the obtained NCS and nEMG in the context of the clinical presentation. For electrophysiologists and nonelectrophysiologists alike, understanding the elements of EMG report, patterns of findings in common neuromuscular conditions, and potential technical errors that can erroneously influence the clinical interpretation is vital.

Electrodiagnostic Characteristics Suggestive of Muscle-Specific Kinase Myasthenia Gravis.

Background and Objectives: Muscle-specific kinase (MuSK) antibody-positive myasthenia gravis (MuSK + MG) is a form of MG with bulbar-predominant symptoms often resistant to conventional treatments. Patients with MuSK + MG may have an electrodiagnostic (EDX) profile distinct from other MG. This study compares EDX features of MuSK + MG with acetylcholine receptor (AChR) antibody-positive MG (AChR + MG) to discern whether any unique EDX pattern exists that can aid in clinical diagnosis. Methods: From January 1, 2010, through December 31, 2020, all patients with MuSK + MG at our institution were identified and randomly matched to an AChR + MG cohort in a 1:2 ratio based on sex, age at onset, and subsequently Myasthenia Gravis Foundation of America (MGFA) clinical severity for a case-control study. Each patient's clinical profile, treatment, and EDX testing were summarized and analyzed. Results: Twenty-two patients with MuSK + MG (18 female) and 44 patients with AChR + MG were studied. The average symptom duration at presentation was shorter in the MuSK + MG group (4.7 years) compared with AChR + MG (10.9 years). Myotonic discharges were rare in both groups but more frequently observed in patients with MuSK + MG (10%) identified in 5 muscles in 2 patients compared with AChR + MG (2%) noted in only 1 muscle in 1 patient. Patients with MuSK + MG more often had myopathic appearing motor unit potentials (MUPs) (41% vs 30%) compared with AChR + MG. Myopathic appearing MUPs were found in milder cases of MuSK + MG (MGFA class I-IIB) compared with AChR + MG (MGFA Class IIB-V). Discussion: Patients with MuSK + MG may have a recognizable EDX profile from AchR + MG that includes (1) myotonic discharges, (2) greater occurrence of myopathic appearing MUPs in clinically mild disease, and (3) symptoms leading to earlier testing.

Clinical and electrophysiological findings in C9ORF72 ALS.

INTRODUCTION/AIMS: Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disorder of motor neurons in which the cause is mostly unknown. Early identification of genetic ALS cases, of which C9ORF72 (C9ALS) is the most frequent, can have important implications for evaluation, prognosis, and therapeutics. Here, we aimed to characterize the clinical and electrophysiological hallmarks of C9ALS and investigate differences from C9ORF72 negative ALS (non-C9ALS). METHODS: We retrospectively reviewed clinical and electrodiagnostic (EDX) data for all genetically confirmed C9ALS cases seen between 1/1/2012 and 10/1/2020 who met Gold Coast criteria and compared them 1:1 with non-C9ALS patients within the same time frame. RESULTS: A total of 99 C9ALS and 99 non-C9ALS cases were identified. Compared to non-C9ALS, C9ALS demonstrated higher prevalence in women, lesser racial variability, stronger family history of ALS, and higher frequency of upper motor neuron signs. EDX testing of C9ALS showed higher median sensory nerve and lower fibular compound muscle action potential amplitudes. DISCUSSION: Although the differences between C9ALS and non-C9ALS reached statistical significance in certain nerve conduction parameters, they were not sufficient to discriminate between groups on a case-by-case basis. Genetic testing is required to identify C9ALS patients.

Regional anesthesia in patients with Charcot-Marie-Tooth disease: a historical cohort study of 53 patients.

PURPOSE: Anesthetic management for patients with Charcot-Marie-Tooth disease (CMT) is controversial. Description of the use of regional anesthesia (RA) in patients with CMT is limited. Regional anesthesia has traditionally been avoided because of risk of nerve injury. We retrospectively reviewed patients with CMT who received RA at our institution. METHODS: We performed a historical cohort study of all patients with CMT who received RA from 30 April 2010 to 30 April 2020 within our institution. Charts were reviewed for information on demographics, RA procedures, perioperative variables, evidence of neurologic complications, post-RA neurology consults, and perioperative electromyography (EMG) results. Electromyographs were reviewed by a neurologist who was blinded to the surgical and RA details. RESULTS: Fifty-three patients received a total of 132 regional anesthetics during the study period. Twenty-five patients received RA on more than one occasion. Fifty-five EMGs and 14 postoperative neurology consults were performed. Two patients had neurology consults with peripheral nerve block (PNB) distribution complaints years later. Neither attributed the complaints to the PNB. The other neurology consults were for unrelated complaints. No EMG results suggested injury related to PNB. CONCLUSION: This study found no evidence of documented neurologic complications or an increased risk of nerve injury related to RA in CMT patients.

RéSUMé: OBJECTIF: La prise en charge anesthésique des patients atteints de la maladie de Charcot-Marie-Tooth (CMT) est controversée. Les descriptions de l'utilisation de l'anesthésie régionale (AR) chez les patients atteints de CMT sont limitées. L'anesthésie régionale est traditionnellement évitée en raison du risque de lésion nerveuse. Nous avons rétrospectivement passé en revue les dossiers des patients atteints de CMT ayant reçu une AR dans notre établissement. MéTHODE: Nous avons réalisé une étude de cohorte historique de tous les patients atteints de CMT ayant reçu une AR entre le 30 avril 2010 et le 30 avril 2020 au sein de notre établissement. Les dossiers ont été passés en revue pour en tirer des renseignements sur les données démographiques, les interventions d'AR, les variables périopératoires, les signes de complications neurologiques, les consultations en neurologie post-AR et les résultats de l'électromyographie (EMG) périopératoire. Les électromyographes ont été examinés par un neurologue qui n'avait pas accès aux détails concernant la chirurgie et l'AR. RéSULTATS: Cinquante-trois patients ont reçu un total de 132 anesthésies régionales au cours de la période d'étude. Vingt-cinq patients ont reçu une AR à plus d'une occasion. Cinquante-cinq EMG et 14 consultations postopératoires en neurologie ont été effectuées. Deux patients ont consulté en neurologie après s'être plaints de la distribution du bloc nerveux périphérique (BNP) des années plus tard. Ni l'un ni l'autre n'a attribué ces problèmes au BNP. Les autres consultations en neurologie concernaient des plaintes non liées au BNP. Aucun résultat d'EMG n'a suggéré de lésion liée au BNP. CONCLUSION: Cette étude n'a trouvé aucune preuve de complications neurologiques documentées ou d'un risque accru de lésion nerveuse liée à l'AR chez les patients atteints de CMT.

Assessing electrodiagnostic skills among residents and fellows: Relationships between workplace-based assessments using the Electromyography Direct Observation Tool and other measures of trainee performance.

INTRODUCTION/AIMS: Graduate medical education programs must ensure residents and fellows acquire skills needed for independent practice. Workplace-based observational assessments are informative but can be time- and resource-intensive. In this study we sought to gather "relations-to-other-variables" validity evidence for scores generated by the Electromyography Direct Observation Tool (EMG-DOT) to inform its use as a measure of electrodiagnostic skill acquisition. METHODS: Scores on multiple assessments were compiled by trainees during Clinical Neurophysiology and Electromyography rotations at a large US academic medical center. Relationships between workplace-based EMG-DOT scores (n = 298) and scores on a prerequisite simulated patient exercise, patient experience surveys (n = 199), end-of-rotation evaluations (n = 301), and an American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) self-assessment examination were assessed using Pearson correlations. RESULTS: Among 23 trainees, EMG-DOT scores assigned by physician raters correlated positively with end-of-rotation evaluations (r = 0.63, P = .001), but EMG-DOT scores assigned by technician raters did not (r = 0.10, P = .663). When physician and technician ratings were combined, higher EMG-DOT scores correlated with better patient experience survey scores (r = 0.42, P = .047), but not with simulated patient or AANEM self-assessment examination scores. DISCUSSION: End-of-rotation evaluations can provide valid assessments of trainee performance when completed by individuals with ample opportunities to directly observe trainees. Inclusion of observational assessments by technicians and patients provides a more comprehensive view of trainee performance. Workplace- and classroom-based assessments provide complementary information about trainee performance, reflecting underlying differences in types of skills measured.

Comparison of Proximal and Distal Techniques for the Medial Antebrachial Cutaneous Sensory Nerve Conduction Study.

PURPOSE: The medial antebrachial cutaneous (MAC) sensory nerve conduction study (NCS) is a technique performed to evaluate for medial cord/lower trunk plexopathies. Low-amplitude responses and muscle artifact pose technical challenges for MAC NCS. To compare the recorded sensory NCS responses using a proximal MAC (pMAC) NCS technique with a distal (dMAC) technique.To compare the recorded sensory NCS responses using a proximal MAC (pMAC) NCS technique with a distal (dMAC) technique. METHODS: Adults referred to our neurophysiology laboratory for whom MAC NCS were clinically indicated were included. Medial antebrachial cutaneous NCS were performed using dMAC (stimulating at the elbow) and pMAC (stimulating in upper arm) techniques. Amplitudes and peak latencies were compared. RESULTS: Forty-eight patients (82 arms: 39 right and 43 left) were studied. The mean amplitude difference (95% confidence interval) in right pMAC over right dMAC was 4.4 µV (range, 2.78-6.09 µV; P < 0.0001) and that of left pMAC over left dMAC was 5.23 µV (range, 3.35-7.12 µV; P < 0.0001). CONCLUSIONS: The pMAC technique recorded larger mean amplitudes than the dMAC technique, which may improve the technical reliability and diagnostic accuracy when identifying plexopathies.

Clinical Neurophysiology Fellowship Program Directors Survey on a Standardized Fellowship Match Process: A Call for Action.

PURPOSE: To survey US Clinical Neurophysiology (CNP) fellowship program directors on the nature of CNP and related training programs, current recruitment cycle, and views for a standardized process. METHODS: A 23-question electronic survey was sent to all 93 US Accreditation Council for Graduate Medical Education-accredited CNP fellowship program directors from December 2020 to January 2021. RESULTS: The response rate was 60%. There was great variability in the number of CNP positions and CNP tracks offered. The following tracks were identified: 48% EEG dominant, 26% EMG dominant, 22% split equally between EEG and EMG, and 2% and 1% were neurophysiologic intraoperative monitoring and autonomic dominant, respectively. Of the responding institutions, 43% offered a second year of training options to CNP fellows, mainly in conjunction with Epilepsy fellowship, which was pursued by 25% of CNP fellows. Many programs indicated flexibility in their design between different CNP tracks or between CNP and other related training programs based on the available candidates. The median percentage of CNP fellowship positions filled over the last 5 years was 80%, and there was great variation in the recruitment timeline across institutions. Overall, 86% of program directors favored a universal timeline and 71% favored a formal match for CNP. The respondents were split between an independent CNP match (39%) and joining the initiatives of affiliate societies on a standardized process (61%). CONCLUSIONS: There is significant heterogeneity in the makeup of the CNP fellowship programs and the recruitment process. The majority of CNP program directors are in favor of standardization of the recruitment process.

Electromyography Case Examples: Practical Approaches to Neuromuscular Symptoms.

Many neuromuscular complaints are evaluated with electrodiagnostic testing. In practice, physicians must plan the electrodiagnostic study to provide the most useful information addressing patients' symptoms. The approach to each study must be individualized based on the symptoms and findings of each previous result. This article reviews five real cases with common reasons for referral to the neurophysiology laboratory with discussion of the approach to testing, interpretation of the results, and practical decision-making points relevant to each case. The goal is to provide rationale for why specific studies were selected and how each was helpful in deriving the final diagnosis.

Needle Electromyography Waveforms During Needle Electromyography.

Needle electromyography (EMG) waveforms recorded during needle EMG help to define the type, temporal course, and severity of a neuromuscular disorder. Accurate interpretation of EMG waveforms is a critical component of an electrodiagnostic examination. This article reviews the significance of spontaneous EMG waveforms and changes in voluntary motor unit potentials in neuromuscular disorders.

Guillain-Barré Syndrome After Acute Hepatitis E Infection: A Case Report and Literature Review.

INTRODUCTION: Guillain-Barré syndrome precipitated by hepatitis E virus infection is rare, yet its incidence is increasing. CLINICAL FINDINGS: A 57-year-old man was transferred from another facility with fatigue, orange urine, and progressive weakness over 4 to 6 weeks. Initial laboratory results included total bilirubin, 9.0 mg/dL; direct bilirubin, 6.4 mg/dL; aspartate aminotransferase, 1551 U/L; alanine aminotransferase, 3872 U/L; and alkaline phosphatase, 430 U/L. Immunoglobulin M and quantitative polymerase chain reaction test results were positive for hepatitis E virus. Contrast-enhanced magnetic resonance imaging of the brain and spine showed no gross abnormalities. Analysis of cerebrospinal fluid obtained by lumbar puncture revealed the following (reference values in parentheses): total white blood cell count, 15/µL (0-5/µL), with 33% neutrophils and 54% lymphocytes; protein, 0.045 g/dL (0.015-0.045 g/dL); and glucose, 95 mg/dL (within reference range). Neurological examination revealed weakness in both upper extremities, with proximal strength greater than distal strength. The patient could not elevate either lower extremity off the bed and had areflexia and reduced sensation throughout all extremities. DIAGNOSIS: Guillain-Barré syndrome secondary to acute hepatitis E virus infection was diagnosed on the basis of clinical characteristics, serum and cerebrospinal fluid analyses, and nerve conduction studies. CONCLUSIONS: Nurses and clinicians should obtain a thorough history and consider hepatitis E virus infection as a precipitating factor in patients with sensory and motor disturbances consistent with Guillain-Barré syndrome. The case gives insight into the diagnostic process for Guillain-Barré syndrome and highlights the vital role of bedside nurses in evaluating and treating these patients.

Quantitative analysis of myokymic discharges in radiation versus nonradiation cases.

INTRODUCTION: Myokymic discharges are classically associated with nerve injury from prior radiation but may occur in other neuromuscular disorders. Using quantitative analysis we aimed to identify the spectrum of conditions in which myokymic discharges are present and determine if there are electrophysiological features that distinguish postradiation from nonradiation causes of myokymia. METHODS: We reviewed the clinical history of all patients examined in our electromyography labs with myokymic discharges recorded from June 2017 to February 2020. Quantitative analysis of each myokymic discharge was performed using a custom MATLAB script, assessing features such as burst frequency, spikes per burst, and burst regularity. RESULTS: Eighty-eight distinct myokymic discharges (70 patients) were analyzed: 51 postradiation recordings from 35 patients and 37 recordings from 35 nonradiation patients. The diagnostic spectrum of nonradiation cases was diverse, with common causes being median neuropathy (n = 8), cervical (n = 7), and lumbar (n = 5) radiculopathy, and motor neuron disease (n = 5). On quantitative analysis, postradiation myokymia had an increased burst-to-silence ratio (median, 0.29; nonradiation, 0.08) and greater peak number (median, 15; nonradiation, 7). Except for one patient with hereditary peripheral nerve hyperexcitability, all patients who had two or more muscles demonstrating myokymic discharges belonged to postradiation group. CONCLUSIONS: Myokymic discharges can be seen in diverse neuromuscular conditions; most common in our cohort was chronic median neuropathy. Postradiation myokymia appears to have distinguishing morphological features when quantitatively analyzed compared with nonradiation cases.

Two Years of Improved Neurological Function With Nusinersen in a 48-Year-Old Patient With Spinal Muscular Atrophy Type 3.

INTRODUCTION: Nusinersen antisense oligonucleotide infusions have been shown to be effective in the treatment spinal muscular atrophy. The majority of the evidence has been collected in young type 1 and type 2 patients, and evidence of efficacy in adult patients is limited. CASE REPORT: A 48-year-old woman with spinal muscular atrophy type 3 who has received the loading dose and 8 maintenance infusions over an 8-month period. Grip and pinch strength, measured by hand-held dynamometry measured at baseline and in 6 to 12 months interval improved over a 24-month period. She also reported multiple other subjective improvements in function. CONCLUSIONS: This is the first published case of nusinersen in a middle-aged adult with spinal muscular atrophy. Sustained clinically meaningful improvement may be possible with nusinersen initiation in mid adulthood.