Femoral neuropathy: A clinical and electrodiagnostic review.

INTRODUCTION/AIMS: Femoral neuropathies can cause severe, prolonged debility, yet there have been few clinical and electrodiagnostic (EDx) studies addressing this condition. The aim of this study was to better understand the etiologies, EDx features, and clinical course of femoral neuropathy. METHODS: We identified patients evaluated at Mayo Clinic Rochester between January 1, 1999 and July 31, 2019, with possible new femoral neuropathy ascertained via International Classification of Diseases-versions 9 and 10 diagnosis codes presenting within 6 months of symptom onset. RESULTS: A retrospective review of 1084 records was performed and we ultimately identified 159 patients with isolated femoral neuropathy for inclusion. The most common femoral neuropathy etiologies were compressive (40%), perioperative stretch (35%), and inflammatory (6%). Presenting symptoms included weakness (96%), sensory loss (73%), and pain (53%). Presenting motor physical exam findings demonstrated moderate weakness (34%) or no activation (25%) of knee extension and mild (32%) or moderate (35%) weakness of hip flexion. Seventy-two percent of patients underwent EDx testing, including 22 with femoral motor nerve conduction studies. Treatment often involved physical therapy (89%) and was otherwise etiology-specific. In patients with follow-up data available (n = 154), 83% had subjective clinical improvement at follow-up with a mean time to initial improvement of 3.3 months and mean time to recovery at final follow-up of 14.8 months. Only 48% of patients had nearly complete or complete recovery. DISCUSSION: In our cohort, the most common etiologies of femoral neuropathy were compression or perioperative stretch with high initial morbidity. Although motor recovery is common, improvement is often prolonged and incomplete.

Chronic glucocorticoid management in neuromuscular disease: A survey of neuromuscular neurologists.

INTRODUCTION/AIMS: Glucocorticoids (GC) are first-line therapy for many neuromuscular diseases. There is a lack of guidelines regarding the prevention and management of GC complications in the context of neuromuscular disease, introducing the potential for practice variation, that may compromise quality of care. Our aim was to evaluate the practice patterns among Canadian adult neuromuscular neurologists on the screening, management, and treatment of GC-related complications and to identify variances in practice. METHODS: A web-based anonymous questionnaire was disseminated to 99 Canadian adult neuromuscular neurologists. Questions addressed patterns of screening, prevention, monitoring, and treatment of GC-induced adverse events, including infection prophylaxis, vaccination, bone health, hyperglycemia, and other complications. RESULTS: Seventy-one percent completed the survey. Of those, 52% perform screening blood work prior to initiating GC, 56% screen for infections, and 18% for osteoporosis. The majority monitor glycemic control and blood pressure (>85%). Thirty-two (46%) reported that they do not primarily monitor GC complications, but rather provide recommendations to the primary care physician. Pneumocystis jiroveci pneumonia prophylaxis was never used by 29%, and 29% recommend vaccinations prior to GC initiation. Calcium supplementation was recommended by 80% to prevent osteoporosis. Only 36% were aware of any existing guidelines for preventing GC complications, and 91% endorsed a need for neurology-specific guidelines. DISCUSSION: There is substantial variability in the management of GC adverse effects among neuromuscular neurologists, often not corresponding to limited published literature. Our results support the need for improved education and neurology-specific guidelines to help standardize practice and improve and prevent complications.

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.

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.

Short-Acting Neuromuscular Blockade Improves Inter-rater Reliability of Median Somatosensory Evoked Potentials in Post-cardiac arrest Prognostication.

BACKGROUND: Although median nerve somatosensory evoked potentials are routinely used for prognostication in comatose cardiac arrest survivors, myogenic artifact can reduce inter-rater reliability, leading to unreliable or inaccurate results. To minimize this risk, we determined the benefit of neuromuscular blockade agents in improving the inter-rater reliability and signal-to-noise ratio of SSEPs in the context of prognostication. METHODS: Thirty comatose survivors of cardiac arrest were enrolled in the study, following the request from an intensivist to complete an SSEP for prognostication. Right and left median nerve SSEPs were obtained from each patient, before and after administration of an NMB agent. Clinical histories and outcomes were retrospectively reviewed. The SSEP recordings before and after NMB were randomized and reviewed by five blinded raters, who assessed the latency and amplitude of cortical and noncortical potentials (vs. absence of response) as well as the diagnostic quality of cortical recordings. The inter-rater reliability of SSEP interpretation before and after NMB was compared via Fleiss' κ score. RESULTS: Following NMB administration, Fleiss' κ score for cortical SSEP interpretation significantly improved from 0.37 to 0.60, corresponding to greater agreement among raters. The raters were also less likely to report the cortical recordings as nondiagnostic following NMB (40.7% nondiagnostic SSEPs pre-NMB; 17% post-NMB). The SNR significantly improved following NMB, especially when the pre-NMB SNR was low (< 10 dB). Across the raters, there were three patients whose SSEP interpretation changed from bilaterally absent to bilaterally present after NMB was administered (potential false positives without NMB). CONCLUSIONS: NMB significantly improves the inter-rater reliability and SNR of median SSEPs for prognostication among comatose cardiac arrest survivors. To ensure the most reliable prognostic information in comatose post-cardiac arrest survivors, pharmacologic paralysis should be consistently used before recording SSEPs.

Inclusion body myositis: correlation of clinical outcomes with histopathology, electromyography and laboratory findings.

OBJECTIVE: To determine whether histopathological, electromyographic and laboratory markers correlate with clinical measures in inclusion body myositis (IBM). METHODS: We reviewed our electronic medical records to identify patients with IBM according to European Neuromuscular Center (ENMC) 2011 criteria, seen between 2015 and 2020. We only included patients who had a muscle biopsy and needle electromyography (EMG) performed on the same muscle (opposite or same side). We used a detailed grading system [0 (normal) to 4 (severe)] to score histopathological and EMG findings. Clinical severity was assessed by the modified Rankin scale (mRS), muscle strength sum score (SSS), quadriceps strength and severity of dysphagia on swallow evaluation. Serum markers of interest were creatine kinase level and cN-1A antibodies. RESULTS: We included 50 IBM patients, with a median age of 69 years; 64% were males. Median disease duration at diagnosis was 51 months. On muscle biopsy, endomysial inflammation mainly correlated with dysphagia, and inversely correlated with mRS. Vacuoles and congophilic inclusions did not correlate with any of the clinical measures. On EMG, the shortness of motor un it potential (MUP) duration correlated with all clinical measures. Myotonic discharges, and not fibrillation potentials, correlated with the severity of inflammation. Serum markers did not have a statistically significant correlation with any of the clinical measures. CONCLUSIONS: Dysphagia was the main clinical feature of IBM correlating with endomysial inflammation. Otherwise, inclusion body myositis clinical measures had limited correlation with histopathological features in this study. The shortness of MUP duration correlated with all clinical measures.

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.

Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP.

INTRODUCTION/AIMS: Carpal and cubital tunnel syndrome (CTS, CuTS) are common among patients with hereditary neuropathy with liability to pressure-palsies (HNPP) and Charcot-Marie-Tooth type 1A (CMT1A) and may impact quality of life. We aimed to evaluate the utility of nerve decompression surgeries in these patients. METHODS: Medical records were reviewed for patients with PMP22 mutations confirmed in Mayo Clinic laboratories from January 1999 to December 2020, who had CTS and CuTS and underwent surgical decompression. RESULTS: CTS occurred in 53.3% of HNPP and 11.5% of CMT1A, while CuTS was present in 43.3% of HNPP and 5.8% of CMT1A patients. CTS decompression occurred in 10-HNPP and 5-CMT1A patients, and CuTS decompression with/without transposition was performed in 5-HNPP and 1-CMT1A patients. In HNPP, electrodiagnostic studies identified median neuropathy at the wrist in 9/10 patients and ultrasound showed focal enlargements at the carpal and cubital tunnels. In CMT1A, median and ulnar sensory responses were all absent, and the nerves were diffusely enlarged. After CTS surgery, pain, sensory loss, and strength improved in 4/5 CMT1A, and 6/10 HNPP patients. Of clinical, electrophysiologic and ultrasound findings, only activity-provoked features significantly correlated with CTS surgical benefit in HNPP patients (odds ratio = 117.0:95% confidence interval, 1.94 > 999.99, p = 0.01). One CMT1A and one HNPP patient improved with CuTS surgery while 2 HNPP patients worsened. DISCUSSION: CTS symptom improvement post-surgery can be seen in CMT1A and (less frequent) in HNPP patients. CuTS surgery commonly worsened course in HNPP. Activity-provoked symptoms in HNPP best informed benefits from CTS surgery.

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.

The neuromuscular fellowship portal and match.

For many years, Neuromuscular Medicine programs lacked a standardized means of handling fellowship applications and offering positions. Programs interviewed applicants and made offers as early as the first half of Post Graduate Year 3 (PGY3), a suboptimal timeline for applicants who may have had little prior exposure to neuromuscular or electrodiagnostic medicine. In 2021, the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) developed the Neuromuscular Fellowship Portal to standardize a later timeline and establish a process for fellowship applications and offers. In its first year, the Neuromuscular Fellowship Portal used a unique one-way match, in which the portal released serial offers to applicants based on rank order lists submitted by programs. Fifty-two Neuromuscular Medicine programs and seven electromyography (EMG)-focused Clinical Neurophysiology programs participated. Sixty-eight positions were filled, a similar number to previous years. A survey of fellowship directors and applicants following this process showed overwhelming support for the standardized timeline and application portal, but all program directors and most applicants favored moving to a traditional match. To maintain the existing application timeline and minimize costs for all parties, the AANEM Neuromuscular Fellowship Portal will host a two-way match, based on existing commercial match algorithms, in 2022. A match will afford a fair and efficient process for all involved. Both Neuromuscular Medicine and EMG-focused Clinical Neurophysiology programs will be encouraged to participate. The process undertaken by the AANEM can stand as an example for other neurologic subspecialties who are interested in standardizing their application timeline.

Risk factors for lumbosacral radiculoplexus neuropathy.

INTRODUCTION/AIMS: Recently, our group found an association between diabetes mellitus (DM) and lumbosacral radiculoplexus neuropathy (LRPN) in Olmsted County, Minnesota; we found a higher risk (odds ratio [OR], 7.91) for developing LRPN in diabetic compared with nondiabetic patients. However, the influence of other comorbidities and anthropomorphic variables was not studied. METHODS: Demographic and clinical data from 59 LRPN patients and 177 age/sex-matched controls were extracted using the Rochester LRPN epidemiological study. Differences between groups were compared by chi-square/Fisher exact test or Wilcoxon rank-sum test. Uni- and multivariate logistic regression analysis were performed. RESULTS: Factors predictive of LRPN on univariate analysis were DM (OR, 7.91; 95% confidence interval [CI], 4.11-15.21), dementia (OR, 6.36; 95% CI, 1.13-35.67), stroke (OR, 3.81; 95% CI, 1.32-11.01), dyslipidemia (OR, 2.844; 95% CI, 1.53-5.27), comorbid autoimmune disorders (OR, 2.72; 95% CI, 1.07-6.93), hypertension (OR, 2.25; 95% CI, 1.2-4.13), obesity (OR, 2.05; 95% CI, 1.11-3.8), body mass index (BMI) (OR, 1.1; 95% CI, 1.04-1.15), and weight (OR, 1.02; 95% CI, 1.009-1.037). On multivariate logistic regression analysis only DM (OR, 8.03; 95% CI, 3.86-16.7), comorbid autoimmune disorders (OR, 4.58; 95% CI, 1.45-14.7), stroke (OR, 4.13; 95% CI, 1.2-14.25), and BMI (OR, 1.07; 95% CI, 1.01-1.13) were risk factors for LRPN. DISCUSSION: DM is the strongest risk factor for the development of LRPN, followed by comorbid autoimmune disorders, stroke, and higher BMI. Altered metabolism and immune dysfunction seem to be the most influential factors in the development of LRPN.

Coordination of Intraoperative Neurophysiologic Monitoring Technologist and Surgery Schedules.

Resource coordination in surgical scheduling remains challenging in health care delivery systems. This is especially the case in highly-specialized settings such as coordinating Intraoperative Neurophysiologic Monitoring (IONM) resources. Inefficient coordination yields higher costs, limited access to care, and creates constraints to surgical quality and outcomes. To maximize utilization of IONM resources, optimization-based algorithms are proposed to effectively schedule IONM surgical cases and technologists and evaluate staffing needs. Data with 10 days of case volumes, their surgery durations, and technologist staffing was used to demonstrate method effectiveness. An iterative optimization-based model that determines both optimal surgery and technologist start time (operational scenario 4) was built in an Excel spreadsheet along with Excel's Solver settings. It was compared with current practice (operational scenario 1) and optimization solution on only surgery start time (operational scenario 2) or technologist start time (operational scenario 3). Comparisons are made with respect to technologist overtime and under-utilization time. The results conclude that scenario 4 significantly reduces overtime by 74% and under-utilization time by 86% as well as technologist needs by 10%. For practices that do not have flexibility to alter surgeon preference on surgery start time or IONM technologist staffing levels, both scenarios 2 and 3 also result in substantial reductions in technologist overtime and under-utilization. Moreover, IONM technologist staffing options are discussed to accommodate technologist preferences and set constraints for surgical case scheduling. All optimization-based approaches presented in this paper are able to improve utilization of IONM resources and ultimately improve the coordination and efficiency of highly-specialized resources.

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.

Perioperative Ulnar Neuropathy: A Contemporary Estimate of Incidence and Risk Factors.

BACKGROUND: Retrospective and prospective studies 2 decades ago from the authors' institution reported the incidence of perioperative ulnar neuropathy persisting for at least several months in a noncardiac adult surgical population to be between 30 and 40 per 100,000 cases. The aim of this project was to assess the incidence and explore risk factors for perioperative ulnar neuropathy in a recent cohort of patients from the same institution using a similar definition for ulnar neuropathy. METHODS: We performed a retrospective incidence and case-control study of all adults (≥18 years) undergoing noncardiac procedures with anesthesia services between 2011 and 2015. Each incident case of persistent ulnar neuropathy within 6 months of surgery was matched by age, sex, procedure date, and procedure type to 5 surgical patient controls. For the case-control study, separate conditional logistic regression analyses were performed to assess specific risk factors including the patient's body position and arm position, as well as body mass index (BMI), surgical duration, and selected patient comorbidities. RESULTS: Persistent ulnar neuropathy of at least 2 months duration was found in 22 of 324,124 anesthetics for patients who underwent these procedures during the study period for an incidence rate of 6.8 (95% confidence interval [CI], 4.3-10.3) per 100,000 anesthetics. The incidence of ulnar neuropathy was higher in men compared to women (10.7 vs 3.0 per 100,000; P = .016). From the matched case-control study, the odds of ulnar neuropathy increased with higher BMI (odds ratio [OR] = 1.67 [1.16-2.42] per 5 kg/m2 increase in BMI; P = .006), history of cancer (OR = 6.46 [1.64-25.49]; P = .008), longer procedures (OR = 1.53 [1.18-1.99] per hour; P = .001), and when 1 or both arms were tucked during surgery (OR = 6.16 [1.85-20.59]; P = .003). CONCLUSIONS: The incidence of persistent perioperative ulnar neuropathy observed in this study was lower than the incidence reported 2 decades ago from the same institution and using a similar definition for ulnar neuropathy. Several of the previously reported risk factors continue to be associated with the development of persistent perioperative ulnar neuropathy, providing ongoing targets for practice changes that might further decrease the incidence of this problem.

Needle electromyography and histopathologic correlation in myopathies.

INTRODUCTION: Needle electromyography (EMG) findings help confirm myopathy and may indicate specific pathologic changes on muscle biopsy. METHODS: We conducted a retrospective chart review of 218 consecutive patients referred for muscle biopsy. Presence of specific needle EMG findings was correlated with pathologic findings of inflammation, necrosis, splitting, and vacuolar changes. Sensitivity, specificity, and positive and negative predictive values of specific EMG findings for pathologic changes were calculated. RESULTS: Short-duration motor unit potentials (MUP) were sensitive (83%-94%) but not specific (34%-49%) for pathologic changes. Fibrillation potentials were 65%-74% sensitive and 58%-81% specific for inflammation, necrosis, splitting, or vacuolar changes. The absence of fibrillation potentials had high negative predictive value (82%-93%) for inflammation, splitting, or vacuolar changes. DISCUSSION: Fibrillation potentials and short-duration MUPs predict pathologic changes of muscle fiber necrosis, splitting, and/or vacuolar changes (as seen with inflammatory myopathies and muscular dystrophies). Absence of fibrillation potentials suggests other myopathologic changes (e.g., congenital myopathy). Muscle Nerve 59:315-320, 2019.

Neuromuscular transmission defects in myopathies: Rare but worth searching for.

INTRODUCTION: Decremental responses in repetitive nerve stimulation have been reported in a few hereditary myopathies. We examined the frequency of decrement in a cohort of myopathy patients. METHODS: We reviewed all patients referred for myopathy who underwent repetitive nerve stimulation between January 2007 and May 2017. We included patients with decrement (>10%) and either a pathological or molecular diagnosis of myopathy. RESULTS: Among 157 patients with myopathies, 4 patients had decrement (2 hydroxychloroquine-associated vacuolar myopathy, 1 centronuclear myopathy, and 1 distal myopathy). One hydroxychloroquine-associated vacuolar myopathy patient also had inflammatory myopathy. Pyridostigmine improved weakness in the centronuclear myopathy patient, but not in the distal myopathy patient. No patient with an acquired myopathy received pyridostigmine. CONCLUSIONS: Despite the rare occurrence of decrement in myopathy, its presence may urge consideration of pharmacological intervention. Muscle Nerve 59:475-478, 2019.

Clinical spectrum of neuropathy after primary total knee arthroplasty: A series of 54 cases.

INTRODUCTION: Neuropathy after total knee arthroplasty (TKA) can cause significant morbidity but is inconsistently reported. METHODS: We reviewed the clinical, electrodiagnostic and perioperative features of all patients who underwent primary TKA at our institution and developed a new neuropathy within 8 weeks postoperatively. RESULTS: Fifty-four cases were identified (incidence 0.37% [95% confidence interval, 0.28-0.49]) affecting the following nerve(s): peroneal (37), sciatic (11), ulnar (2), tibial (2), sural (1), and lumbosacral plexus (1). In all cases with follow-up data, motor recovery typically occurred within 1 year and was complete or near-complete. CONCLUSIONS: Post-TKA neuropathy is uncommon, typically does not require intervention and usually resolves within 1 year. Post-TKA neuropathy most often affects the nerves surgically at risk. Anesthesia type does not correlate with post-TKA neuropathy. An inflammatory etiology for post-TKA neuropathy is rare but should be considered in specific cases. Muscle Nerve 59:679-682, 2019.

Nerve conduction normal values for electrodiagnosis in pediatric patients.

INTRODUCTION: Existing normal value references for pediatric nerve conduction studies (NCS) are based on limited sample sizes with uncertain reliability, suggesting a need for better normative data. METHODS: Electronic medical records were reviewed for pediatric patients (0 to <18 years) with normal findings on electromyography and NCS during the period from January 1, 1997 through September 20, 2017. Electrodiagnostic and demographic data were collected. Gaussian and descriptive statistics were used to establish normal values by age group. RESULTS: In this study we analyzed 1,918 normal NCS on 1,849 unique pediatric patients. Patients were stratified by age: 0 to <1 month; 1 to <6 months; 6 to <12 months; 12 to <24 months; 2 to <3 years; 3 to <4 years; 4 to <5 years; 5 to <10 years; 10 to <15 years; and 15 to <18 years. Normal reference ranges for amplitude, conduction velocity, and distal latency were established for each age group for 4 motor and 4 sensory nerves. DISCUSSION: The large sample size of this study provides reliable reference values for interpreting pediatric NCS. Muscle Nerve 60: 155-160, 2019.

Clinical, physiological and pathological characterisation of the sensory predominant peripheral neuropathy in copper deficiency.

INTRODUCTION: Myelopathy is considered the most common neurological complication of copper deficiency. Concurrent peripheral neuropathy has been recognised in association with copper deficiency but has not been well characterised. OBJECTIVES: To characterise the clinical, physiological and pathological features of copper-deficient peripheral neuropathy. METHODS: Patients with simultaneous copper deficiency (<0.78 µg/mL) and peripheral neuropathy seen at the Mayo Clinic from 1985 to 2005 were identified. RESULTS: 34 patients were identified (median age 55 years, range 36-78) including 24 women and 10 men. Myelopathy was found in 21 patients. Median serum copper level was 0.11 µg/mL (range 0-0.58). The most frequent clinical and electrophysiological pattern of neuropathy was a sensory predominant length-dependent peripheral neuropathy (71%). Somatosensory evoked potentials demonstrated central slowing supporting myelopathy (96%). Quantitative sensory testing demonstrated both small and large fibre involvement (100%). Autonomic reflex screens (77%) and thermoregulatory sweat test (67%) confirmed sudomotor dysfunction. 14 cutaneous nerve biopsies revealed loss of myelinated nerve fibres (86%), increased regenerative clusters (50%), increased rates of axonal degeneration (91%) and increased numbers of empty nerve strands (73%). 71% of biopsies demonstrated epineurial perivascular inflammation. CONCLUSIONS: An axonal, length-dependent sensory predominant peripheral neuropathy causing sensory ataxia is characteristic of copper deficiency usually co-occurring with myelopathy. Neurophysiological testing confirms involvement of large, greater than small fibres. The pathological findings suggest axonal degeneration and repair. Inflammatory infiltrates are common but are small and of doubtful pathological significance.

Unusual presentation Of Sjögren-associated neuropathy with plasma cell-rich infiltrate.

INTRODUCTION: Sjögren syndrome is thought to be a lymphocyte-driven process. Peripheral nervous system involvement occurs in about 20%-25% of patients. A sensory-predominant, large-fiber peripheral neuropathy is most common, and it is usually associated with a subacute to chronic presentation. METHODS: We report a rare case of an acute Sjögren-associated, sensory predominant, length-dependent peripheral neuropathy mimicking Guillain-Barré syndrome. The patient presented with sensory ataxia preceded by fever and polyarthralgia. She gave a history of years of dry eyes and dry mouth. RESULTS: She had a positive Shirmer test, abnormal salivary gland scan, and positive SS-A and SS-B antibodies. A sural nerve biopsy showed an unusual, dense, non-IgG4, polyclonal, plasma-cell perivascular infiltrate. The patient responded to treatment with weekly pulse intravenous methylprednisolone. CONCLUSIONS: Sjögren syndrome can present with acute-onset, sensory predominant peripheral neuropathy. The role of plasma cells in Sjögren syndrome is unexplored and deserves further study. Muscle Nerve 55: 605-608, 2017.