Moderate Weakness Research Articles

Feasibility and Reproducibility of Isokinetic Dynamometry in Children with Neuromuscular Diseases.

Background/Objectives: High-precision measurement tools are needed to measure relevant changes in strength and power in children with neuromuscular diseases. The aim of this study was to determine the feasibility (i), reproducibility (ii), and validity (iii) of isokinetic dynamometry in this population. Methods: Isometric and isokinetic knee and elbow flexion and extension were measured twice on the same day. Feasibility was based on completion rate and acceptability. Acceptability was measured with a 100 mm visual analog scale. We measured reproducibility as the intraclass correlation coefficient (ICC-agreement), standard error of measurement (SEM), and smallest detectable change (SDC). We investigated relationships between isometric strength and isokinetic power with Pearson's correlation coefficient. ROC curves were used to determine the cutoff of isometric strength to conduct isokinetic measurements. Results: Fifty children with NMDs participated with completion rates of 78-90% for isometric and 39-75% for isokinetic measurements. Acceptability was high (mean (SD) = 73 (19) mm). The ICCs for all measurements were over 0.9 (95% confidence interval (CI) = 0.932-0.998). The SEM% ranged from 5 to 14% and the SDC% from 14 to 28%. The correlations of strength and power were high (Pearson's correlation coefficient >0.9 (95% CI: 0.89-0.98)). The isometric strength needed to conduct isokinetic measurements ranged from 11.1 N in elbow flexors to 24.9 N in knee extensors. Conclusions: Isokinetic dynamometry is a feasible and reproducible method for measuring isometric strength in children with neuromuscular diseases with moderate weakness to normal strength, and isokinetic measurements are only feasible in knee extension for children with moderate weakness to normal strength. The convergent validity between isometric strength and power at low velocities is high.

Pre-thymectomy disease severity predicts outcome in acetylcholine receptor antibody-positive generalised myasthenia gravis.

There are only a few studies exploring post-thymectomy outcome in patients with acetylcholine receptor antibody (AChR-Ab)-positive generalised myasthenia gravis (MG). To assess the predictors of outcome in patients with AChR-Ab-positive generalised MG who underwent thymectomy. A retrospective study of 53 patients from a single neuroscience centre in the UK. The mean disease duration from diagnosis was 6.2 ± 4.3years. Pre-thymectomy, 37 patients had mild weakness affecting muscles other than ocular muscles, 11 patients had moderate weakness and 5 patients had severe weakness. 27/53 patients had thymoma. Post-thymectomy (mean duration of 5.7 ± 4.2years), 34 patients (64%) had a good outcome characterised by Myasthenia Gravis Foundation of America Post-Intervention Status of complete stable remission (no symptoms or signs of MG for at least 1year without any therapy) or pharmacological remission (no symptoms or signs of MG with some form of therapy) or minimal manifestations (no symptoms of functional limitations from MG but weakness on examination of some muscles with or without some form of therapy) on last follow-up visit. Having thymomatous or non-thymomatous MG did not predict the outcome. The only variable that did predict outcome was pre-thymectomy disease severity; patients with mild weakness before thymectomy had a favourable outcome. We found an accuracy of 83% predicting outcome (95% confidence interval (CI) 60%, 100%) with a sensitivity of 84% (95% CI 68%, 94%) and specificity of 81% (95% CI 54%, 96%). Disease severity before thymectomy predicts outcome in patients with AChR-Ab-positive generalised MG.

Pre-Exposure Prophylaxis and Treatment with Tixagevimab/Cilgavimab for COVID-19 among Immunocompromised Pediatric Patients.

Background: Patients treated with hemato-oncological malignancies (HO) or undergoing cellular therapies such as hematopoietic stem cell transplantation (HSCT) or chimeric antigen receptor T cells (CAR-T) were significantly affected by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Despite the success of SARS-CoV-2 vaccination, immunocompromised patients remain at increased risk for severe coronavirus disease (COVID-19), rendering this group of population a high priority for additional prevention and treatment options. Tixagevimab and Cilgavimab (TIXA/CILGA, AZD7442, Evusheld®) is a combination of two fully human, long-acting monoclonal antibodies. TIXA/CILGA have been approved as pre-exposure prophylaxis and treatment in patients at risk of severe disease with impaired vaccine response. Our objective was to describe the efficacy and safety among immunocompromised pediatric patients. Methods: This was an observational multicenter cohort study of immunocompromised pediatric patients receiving TIXA/CILGA conducted at nine Polish centers of Pediatric Oncology, Hematology and Bone Marrow Transplantation. We analyzed patients in two groups; those treated with HO and those undergoing cellular therapies: HSCT or CAR-T cells. In addition, two other cohorts were identified: patients given TIXA/CILGA as pre-exposure prophylactic and therapeutic intervention. Results: A total of 78 patients were evaluated during the study period: 69 (88.5%) received TIXA/CILGA as pre-exposure prophylaxis and 9 (11.5%) as a treatment strategy. A total of 52 (66.6%) patients were treated with standard chemotherapy at HO departments; 21 (27%) underwent HSCT, and 5 (6.4%) received CAR-T cell therapy. All children with COVID-19 receiving TIXA/CILGA presented a mild degree of severity. The most common clinical manifestations were fever, cough and coryza. At least one adverse event (AE) was reported in two (3.8%) patients excluding standard injection site reactions. Reported AEs were mild or moderate in intensity. One child reported mild myalgia and one reported moderate bone pain and weakness. Conclusions: In our observational multicenter cohort study, we explored the use of TIXA/CILGA as pre-exposure prophylaxis and treatment for COVID-19 among immunocompromised pediatric patients. While our findings suggest a potential benefit in preventing and managing COVID-19 in this vulnerable population, it is important to note the study's non-comparative design. Our results highlight the need for well-designed clinical trials to confirm these observations and further assess the efficacy and safety of TIXA/CILGA in immunocompromised children.

Medication adherence of cardiovascular patients after COVID-19: 6-month follow-up

Aim. To evaluate the relationship of various factors with adherence to therapy in cardiovascular patients after a coronavirus disease 2019 (COVID-19).Material and methods. The study included 284 patients (inpatients — 176, outpatients — 108) with cardiovascular diseases (hypertension, heart failure (HF), coronary artery disease, atrial fibrillation) after COVID-19. We collected data on cardiovascular history, made a questionnaire survey about COVID-19 course (symptoms, their severity, self-assessment of the disease severity). Paraclinical diagnostic investigations were carried out. In addition, 1, 3, 6 months after recovery, all respondents were invited for examination, laboratory tests, and survey using the Hospital Anxiety and Depression Scale (HADS). Cardiovascular therapy adherence was assessed at 1, 3 and 6 months after recovery and adherence to COVID-19 treatment 1 month after inclusion in the study by comparing the compliance of the drugs prescribed at discharge with its actual use.Results. In total, 212 respondents continued study participation after 1 month, while 64,2% were adherent to cardiovascular therapy and 56,6% — to COVID-19 therapy. Compliance at 3 and 6 months was 60,4% (n=212) and 52,8% (n=188), respectively. A moderate correlation was found between adherence to treatment and the persistence of apprehension 1 month after recovery (r=0,33, p<0,05), moderate or severe weakness during disease (r=0,31, p<0,05), COVID-19 severity (r=0,39, p<0,05). Inhospital respondents with lung tissue involvement >25% (n=64, 36,4%) were more adherent to standard cardiovascular therapy, prescribed in accordance with clinical guidelines (r=0,336, p<0,05). Adverse events in the form of a hypertensive crisis, arrhythmias, decompensated HF 1, 3, 6 months after recovery significantly increased the compliance with medical recommendations (p<0,05). Medication adherence regarding COVID-19 was associated with the disease severity, HF history, apprehension and anxiety, weakness, and decreased exercise tolerance (p<0,05).Conclusion. After 1 month, adherence to cardiovascular and COVID-19 therapy did not differ significantly (p>0,05). Compliance after 1, 3, 6 months was positively influenced by COVID-19 severity, the subjective feeling of weakness, apprehension and anxiety during disease and the persistence of a subjective feeling of anxiety after recovery. Adverse events (hypertensive crisis, arrhythmia, decompensated HF) during 1, 3 and 6 months after COVID-19 significantly (p<0,05) increased adherence to treatment.

Evaluating the effectiveness of Baker's procedure in restoring functionality in neglected Achilles tendon injuries

Background: Neglected Achilles tendon injuries present a significant challenge in orthopedic practice, often requiring complex surgical interventions for effective treatment. This study aims to evaluate the functional outcomes of patients with neglected Achilles tendon injuries treated using Baker's procedure, a surgical technique designed for complex cases. Methods: This prospective interventional study was conducted at multiple medical centers in Dhaka, Bangladesh, from January 1, 2012, to May 31, 2013. It included 42 patients aged 18 to 60 years with signs of old Tendo-Achilles rupture. Participants were selected based on specific inclusion and exclusion criteria and underwent Baker's Procedure. Postoperative assessments included pain levels, ankle stiffness, calf-muscle weakness, footwear restrictions, range of motion, and patient satisfaction, evaluated using the Juhana Leppilahti modified score. Result: The majority of patients (85.71%) reported no pain post-treatment, while 14.29% experienced mild pain. Ankle stiffness was absent in 71.43% of the patients and mild in 28.57%. Calf-muscle weakness varied, with 64.29% showing no weakness, 28.57% mild weakness, and 7.14% moderate weakness. Footwear restrictions were minimal, with 92.86% reporting no restrictions. Active range of motion was normal (≤5°) in 64.29% of patients and mildly limited (6-10°) in 35.71%. Patient satisfaction was high, with 71.43% being 'Very satisfied' with their treatment outcomes. Conclusions: The study demonstrates that Baker's Procedure is an effective surgical intervention for neglected Achilles tendon injuries, leading to significant pain relief, restored functional mobility, and high patient satisfaction. These findings suggest that with appropriate surgical and rehabilitative care, patients with complex Achilles tendon injuries can achieve favorable outcomes, emphasizing the importance of tailored surgical approaches in orthopedic practice.

Prevalence of Carpel Tunnel Syndrome among Dentists, A Cross-Sectional Study

Background: Carpal Tunnel Syndrome (CTS) is a neuromuscular disorder predominantly seen in professions demanding repetitive and forceful hand movements, notably among dentists. This study aimed to assess the prevalence of CTS among dentists and its impact on their professional activities. Objective: To determine the prevalence of CTS in dentists and understand how it affects their daily professional tasks. Methods: This cross-sectional study utilized the Boston Carpal Tunnel Questionnaire to evaluate sensory and functional impairments in a sample of 50 dentists. The questionnaire encompassed demographic details, the Functional Status Scale (FSS), and the Symptom Severity Scale (SSS). Data analysis was conducted using SPSS version 28.0. Results: The study sample comprised 38% female and 62% male dentists, primarily aged between 20-30 years (48%), followed by 31-40 years (30%), and 41-50 years (22%). It was found that female dentists exhibited a higher prevalence of CTS compared to male counterparts. Regarding symptoms, 40% of the participants reported mild hand or wrist pain during the day, while 10% experienced moderate pain. Furthermore, 30% of the dentists reported experiencing wrist pain 1-2 times per day. A notable 40% felt slight weakness in the hands, and 6% reported moderate weakness. Conclusion: The study concludes that CTS is highly prevalent among dentists, with a more significant impact observed in female practitioners. These findings highlight the need for targeted preventive measures and ergonomic interventions in dental practice to reduce the risk and burden of CTS.

Femoral neuropathy: A clinical and electrodiagnostic review.

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. 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. 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. 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.

Abstract 028: Chronic Subdural Hematoma Treatment with Embolization Versus Surgery Study Protocol

Introduction Chronic subdural hematoma (cSDH) is one of the most common neurosurgical diseases with a significant financial burden. Current management includes observation for mild or asymptomatic patients and surgical drainage for moderate and severe patients. However, surgical drainage is associated with a 15% reoperation rate and a mortality of up to 10%. Middle meningeal artery embolization (MMAE) is a promising minimally invasive alternative with an estimated surgical recurrence rate of 6.8% and 4.6% for standalone MMAE and combined MMAE and surgery respectively. However, randomized data is lacking for this emerging therapy. Methods CHESS is a NIH‐funded, prospective, multi‐center, randomized, open label clinical trial. Subjects with moderately symptomatic cSDH (de novo or recurrent) will be randomized in a 1:1 radio to standalone MMAE or conventional surgery. Moderately symptomatic patients are defined as patients with moderate weakness (4/5), gait ataxia and/or mild aphasia. Embosphere or PVA will be used for MMAE. Primary outcome is defined as the proportion of patients that require rescue surgery or die within 180 days. Safety outcomes include the proportion of subjects with ischemic strokes, serious/life threatening adverse events, worsening neurological status or development of new disabling neurological symptoms, seizures, and cranial neuropathies (blindness and facial paralysis) within 180 days of randomization. One interim analysis for overwhelming efficacy and futility will be performed assuming a group sequential design of O’Brien and Fleming boundary. Results Based on an effect size of 13% of the composite primary outcome, a two‐sided Type I and Type II error of 0.05 and 0.15, and a dropout rate of 10%, a sample size of 394 patients is estimated. Conclusion CHESS will be the first US randomized controlled trial to provide evidence on the safety and effectiveness of 1) standalone MMAE vs surgical drainage; 2) particles as the embolic agent, and 3) MMAE on recurrent, in addition to de novo, cSDHs.

Abstract 213: Successful Mechanical Thrombectomy in Acute Stroke With Pre‐interventional Thrombolysis‐Induced Intracerebral Hemorrhage: Case Report

Introduction Intravenous thrombolytics (IVT) and mechanical thrombectomy (MT) have become the standards of care for treating patients with large vessel occlusion (LVO) acute ischemic strokes (AIS) [1‐4}. Intracerebral hemorrhage (ICH) is a main complication of IVT, with prevalence reported around 3.2% in a large multicentered meta‐analysis [2,6]. However, limited data remains about the safety and efficacy for patients to undergo MT with IVT associated pre‐interventional ICH as no randomized control trials or standard of care guidelines are available [2,4,5,7]. Methods NA Results 56‐yo male with history of alcohol abuse presented via EMS as a stroke alert with acute onset right hemiplegia, global aphasia, right facial droop, and leftward gaze preference two hours prior to arrival. RACE 10+ with NIHSS 24. No known history antiplatelet or anticoagulation use. Computerized Tomography (CT) Brain scan showed left middle cerebral artery (MCA) hyperdense sign with left insular cortical ribboning. CT angiography (CTA) showed near occlusive stenosis of the left carotid bulb with an acute thrombus within Supraclinoid Internal Carotid Artery (ICA) extending into the Left MCA and origin of Left Anterior Cerebral Artery (ACA). Patient was emergently administered IV‐tissue Plasminogen Activator (IV‐tPA) and taken for endovascular thrombectomy. During initial angiogram, after crossing the stenotic cervical bulb, the left Supraclinoid ICA and MCA occlusions were visualized. There was longitudinal partially occlusive thrombus extending from the M1 into the M2 divisions. No opacification of the inferior M2 branch was visualized, with perfusion deficit over the temporal, parietal and frontal regions. Additionally, extravasation of contrast was seen within the left basal ganglia region, concerning for hemorrhagic transformation from IV‐tPA. Reversal of IV‐tPA was initiated, and patient was given cryoprecipitate, platelets, and tranexamic acid. Decision to undergo MT was made secondary to severity of debilitating neurologic symptoms, age, and large perfusion deficit observed. He underwent single pass complete recanalization, TICI 2C using Stent retriever and aspiration. Left ICA stenting was not completed secondary to hemorrhagic transformation. Repeat CT Brain confirmed moderate left frontal lobe hemorrhage with vasogenic edema and 3mm left‐to‐right midline shift. No neurosurgical intervention required. Magnetic resonance imaging (MRI) Brain showed left cerebral hematoma with mass effect, acute infarct within left caudate nucleus, and minimal posterior cortical restricted diffusion without hemorrhagic conversion. Patient was monitored for 1 week with serial brain imaging. Patient was discharged on Aspirin 81 mg daily to inpatient rehabilitation with NIHSS 21, mRS 4 (0 prestroke). Today, in rehab he ambulates with walker with moderate expressive aphasia and right upper extremity weakness. Plan to follow‐up 2‐month post‐hospitalization for left ICA stenting. Conclusion While pre‐interventional IVT‐associated ICH in AIS with LVO are rare, few cases have been shown to have positive neurological outcomes [2,5,7]. We demonstrate a unique case of early identification of reperfusion hemorrhage on fluoroscopy with prompt reversal initiated. The decision to continue with MT based on downstream occlusion of basal ganglia hemorrhage not at further risk of expansion from reperfusion. The patient did well on follow‐up imaging despite the hemorrhage. Further randomized control clinical trials are required to establish best care guidelines, safety, and efficacy.

THE EFFECT OF PASSIVE RANGE OF MOTION (ROM) ON IMPROVEMENT OF MUSCLE STRENGTH IN PATIENTS STROKE AT THE GRANDMED HOSPITAL LUBUK PAKAM IN 2023

Stroke is a disease that can cause disability in the body. As many as 30% of stroke sufferers become permanently disabled. Stroke occurs when blood vessels in the brain fail to provide oxygen to brain cells. If brain cells do not have enough oxygen, then brain cells become damaged. The pre-experimental research design uses a one group pre-post test research design where the experimental group first assesses their muscle strength, then is given treatment and measured again. The sample was determined using Accidental Sampling, namely by chance with a sample size of 21 patients. Before being given Passive ROM, muscle strength was paralyzed in 3 respondents (14.3%), weakness in 8 respondents (38.1%), and moderate weakness in 10 respondents (47.6%). After being given passive ROM, there was an increase in muscle strength in value 1 for 3 people (14.3%), value 2 for 8 people (38.1%), and value 3 for 10 people (47.6%). Based on data analysis, a significant value of 0.00 (? 0.05) was obtained, which means that there was an influence before and after being given passive ROM on the muscle strength of stroke patients at Grandmed Lubuk Pakam Hospital in 2023.

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in humans are only partially known, which is crucial for the development of new therapies aiming to slow or stop the progression of the disease. Here we have analyzed quadriceps muscle biopsies of seven DMD patients aged 2 to 4 years old and five age and gender matched controls using single nuclei RNA sequencing (snRNAseq) and correlated the results obtained with clinical data. SnRNAseq identified significant differences in the proportion of cell population present in the muscle samples, including an increase in the number of regenerative fibers, satellite cells, and fibro-adipogenic progenitor cells (FAPs) and a decrease in the number of slow fibers and smooth muscle cells. Muscle samples from the younger patients with stable mild weakness were characterized by an increase in regenerative fibers, while older patients with moderate and progressive weakness were characterized by loss of muscle fibers and an increase in FAPs. An analysis of the gene expression profile in muscle fibers identified a strong regenerative signature in DMD samples characterized by the upregulation of genes involved in myogenesis and muscle hypertrophy. In the case of FAPs, we observed upregulation of genes involved in the extracellular matrix regeneration but also several signaling pathways. Indeed, further analysis of the potential intercellular communication profile showed a dysregulation of the communication profile in DMD samples identifying FAPs as a key regulator of cell signaling in DMD muscle samples. In conclusion, our study has identified significant differences at the cellular and molecular levels in the different cell populations present in skeletal muscle samples of patients with DMD compared to controls.

Femoral Neuropathy: A Comprehensive Clinical and Electrodiagnostic Review (P13-8.001)

<h3>Objective:</h3> The aim of this comprehensive study was to gain better understanding of the risk factors, etiologies, electrodiagnostic (EDX) features, and clinical course of femoral neuropathy. <h3>Background:</h3> Femoral neuropathies can cause severe and prolonged debility. Previous literature has reviewed lateral femoral cutaneous neuropathy as well as the femoral predominance in lumbosacral radiculoplexus neuropathy, but there are limited studies addressing femoral neuropathy itself. <h3>Design/Methods:</h3> We identified patients evaluated at Mayo Clinic Rochester between January 1, 1999 and July 31, 2019 with possible new femoral neuropathy ascertained via ICD 9/10 diagnosis codes presenting within 6 months of symptom onset. A retrospective review of 1084 records was performed. <h3>Results:</h3> We identified 165 cases of femoral neuropathy for inclusion. The most common femoral neuropathy etiologies included: compressive (38%) from retroperitoneal/inguinal lesions or prolonged positioning; stretch (35%) post-operatively; and toxic/inflammatory (10%). Presenting symptoms included weakness (96%), sensory loss (73%), and pain (53%). Presenting motor physical exam findings demonstrated moderate weakness (34%) or no activation (26%) of knee extension and mild (32%) or moderate (35%) weakness of hip flexion. 121 (73%) patients underwent EDX testing including 23 with femoral motor nerve conduction studies. Treatment often involved physical therapy (89%) and was otherwise etiology-specific. In patients with follow-up data available (160), 80% experienced subjective clinical improvement at last follow-up with mean time to initial improvement 3.3 months and mean time to recovery at final follow up 14.7 months. 28 (17.5%) of patients experienced no symptomatic improvement at final follow up. <h3>Conclusions:</h3> In our cohort, the most common etiologies of femoral neuropathy are compression or stretch. Although initial morbidity is high, motor recovery is common but often prolonged. <b>Disclosure:</b> Dr. Santilli has nothing to disclose. Dr. Martinez-Thompson has nothing to disclose. Dr. Speelziek has nothing to disclose. Dr. Laughlin has nothing to disclose.

Diaphragmatic paralysis associated with IgLON5 autoimmunity (P5-5.022)

<h3>Objective:</h3> To describe a rare presentation of IgLON5 IgG mediated neurological disorder <h3>Background:</h3> IgLON5 autoimmunity was previously described with sleep disorder, rhombencephalopathy, vocal cord paresis, progressive-supranuclear-palsy-like syndrome, and recently motor-neuron-disease (MND)-like syndrome. Although diaphragmatic paralysis has been known as a presenting symptom of degenerative (MND) but has never been reported with IgLON5 autoimmunity. <h3>Design/Methods:</h3> Case report <h3>Results:</h3> A 67-year-old man with obstructive sleep apnea and history of vocal cord paralysis 11 years ago, presented with 2-year history of dream enactment behavior, progressive dyspnea and orthopnea. The symptoms became more noticeable and rapidly progressive in the past 10 months. Initially, he felt shortness of breath during the daytime when he bent over. Within a few months, he had to sleep on the recliner with a minimal tilt back at night. Neurological examination demonstrated moderate right facial weakness, mild weakness of interossei muscles of right hand, and triceps. Deep tendon reflexes were marginally brisk without Babinski sign. Sensory examination was normal. Occasional fasciculation was noted in deltoid region. Right upper extremity electromyography was normal. Diaphragmatic ultrasound showed no diaphragmatic expansion during inspiration. Ultrasound-guided electromyography of diaphragm and phrenic nerve conduction study showed no phrenic nerve response on the right, and markedly reduced amplitude of diaphragmatic compound motor action potential on the left side. Brain MRI and cervical spine was essentially unremarkable. Blood work showed normal vitamin B12, creatinine kinase and monoclonal gammopathy screen. Serological evaluation of neural specific antibodies was remarkable for IgLON5-IgG (titer 1:480). The patient was treated with high-dose methylprednisolone and is scheduled to follow up in autoimmune neurology clinic for outcome assessment. <h3>Conclusions:</h3> IgLON5 autoimmunity should be considered in patients with diaphragmatic paralysis, especially ones with sleep disorder, vocal cord paresis, and episodic respiratory disturbances. <b>Disclosure:</b> Dr. Thakolwiboon has nothing to disclose. Dr. Klein has a non-compensated relationship as a Klein with Neurology Journal that is relevant to AAN interests or activities. The institution of Dr. Dubey has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. The institution of Dr. Dubey has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Astellas. The institution of Dr. Dubey has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Argenx. Dr. Dubey has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for AGRIMS. Dr. Dubey has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Advances in Neurology . Dr. Dubey has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Moffit Cancer Center . Dr. Dubey has received research support from Department of Defense . Dr. Dubey has received intellectual property interests from a discovery or technology relating to health care. Dr. Dubey has received intellectual property interests from a discovery or technology relating to health care. Dr. Dubey has received intellectual property interests from a discovery or technology relating to health care.

The clinical and genetic characteristics of 17 cases with Congenital Myasthenic Syndrome: Data from a single center (P2-8.002)

<h3>Objective:</h3> The aim of this study to investigate the clinical and genetic features of patients with Congenital Myasthenic Syndrome (CMS) in Muscle Disease Center, Koç University Hospital, Turkey. <h3>Background:</h3> CMS is a group of hereditary disorders of impaired neuromuscular transmission characterized by fatigable muscle weakness. <h3>Design/Methods:</h3> Herein, we present the characteristics of 17 patients from 14 unrelated families. <h3>Results:</h3> The mean age (3 male, 14 female) was 18.4+13.6, the onset age ranged between the first day and the first 3 months of life in 11 cases, and 1 and 16 years in 6 patients. The most common complaints at the first 3 months were ptosis (6/11), feeding difficulty (7/11), difficulty in breathing (3/11). After the first age of life, walking late (2/6) and fatigue triggered by movement (6/6) were common. <i>CHRNE</i> (homozygous [c.1219+2T&gt;G]; [c.199 G&gt;T]; and novel [c.452_454delAGG]; heterozygous [c.1220-8+8dup and c.1327–1327delG]; [ c. .1327delG and c803-2A&lt;G]) (5 patients): All showed mildly weakness in ocular, bulbar and limbs muscles and good response to pyridostigmine. <i>DOK7</i> (homozygous [c.93_95delCTGLP+c.1120_1121insGCCTP]) (3 siblings). Mild ocular and bulbar muscle weakness, moderate limbs weakness were found and benefiting from salbutamol. <i>GFPT1</i> (composite heterozygous [c.50G&gt;A and c.408+5G&gt;A]; homozygous [c.686-2A&gt;G]; [c.44C&gt;T, p.]) (3 patients) and <i>CHAT</i> ([c.1669G&gt;A]) (1 patient): All were ambulatory and had good response to pyridostigmine. <i>COLQ</i> (homozygous [14–15 exons] deletion and c.44G&gt;A,) (3 patients ): Two siblings worsened under pyridostigmine, and had a marked response to salbutamol. The other one benefited from 3,4-diaminopyridine. <i>AchR</i> epsilon subunit (combined heterozygous [L240I and C302Y]) (1 patient): , She showed respiratory distress and markedly response to pyridostigmine. <i>AGRN</i> (novel,homozygous [c.5387G&gt;A and C4217 A&gt;C]) (1 Patient). She had fatigue and worsened with pyridostigmine and had a dramatic response from salbutamol. <h3>Conclusions:</h3> In our study, similar to many studies, the most common findings were ocular and bulbar symptoms, and the most common genetic disorder was postsynaptic (65%) conduction defects. <b>Disclosure:</b> Dr. Yunisova has nothing to disclose. Dr. ARDUC AKCAY has nothing to disclose. Dr. Avci has nothing to disclose. The institution of Dr. Eraslan has received research support from THE SCIENTIFIC AND TECHNOLOGICAL RESEARCH COUNCIL OF TURKEY. Prof. Kayserili has received research support from TUBITAK . Prof. Kayserili has received personal compensation in the range of $500-$4,999 for serving as a Projecct PI, advisor, researccher with TUBITAK . Prof. University has nothing to disclose.

“Trident Sign” in Spinal Cord Lymphoma (P7-4.003)

<h3>Objective:</h3> N/A <h3>Background:</h3> Chronic, progressive myelopathies with longitudinally-extensive T2-hyperintense lesions and specific gadolinium enhancement patterns, such as the axial “trident sign” of enhancement, have shown to be strongly suggestive of spinal cord sarcoidosis. However, the sensitivity and specificity of such enhancement patterns are not known. <h3>Design/Methods:</h3> Case report with description of history, examination, laboratory values, and imaging findings. <h3>Results:</h3> A 50-year-old woman presented with progressive left spastic hemiparesis over three weeks. MRI of the cervical spine revealed a longitudinally-extensive T2-hyperintense lesion with linear dorsal subpial enhancement and an axial trident pattern of enhancement. Cerebrospinal fluid analysis revealed a pleocytosis with a white blood cell count 20 cells/mm³ (89% lymphocytes), protein of 50 mg/dL, and glucose of 59 mg/dL with negative oligoclonal bands, cytology, and flow cytometry. Aquaporin-4-IgG and Myelin Oligodendrocyte Glycoprotein-IgG in serum were negative. Whole-body FDG-PET revealed increased uptake in the cervical cord but no other areas of systemic hypermetabolism. She was treated with three courses of IV methylprednisolone but her weakness continued to progress. Repeat MRI two months after her initial presentation showed persistent enhancement. Her neurologic examination revealed left spastic hemiplegia and moderate weakness of her right upper extremity. Given the chronic, progressive myelopathy, persistent trident enhancement pattern suggestive of spinal cord sarcoidosis, and the potential risks involved with a cervical cord biopsy, a course of infliximab was trialed empirically. Despite this, she continued to worsen neurologically and developed hypercarbic respiratory failure. Spinal cord biopsy was pursued, ultimately revealing infiltration by diffuse large B-cell lymphoma. <h3>Conclusions:</h3> Spinal cord lymphoma should be considered in patients presenting with chronic, progressive myelopathy and can present with similar enhancement patterns as spinal cord sarcoidosis. Atypical clinical features, such as rapid and severe neurologic worsening despite immunosuppression, should raise suspicion for diagnoses other than spinal cord sarcoidosis to allow for earlier detection and expedited disease-directed treatment. <b>Disclosure:</b> Dr. Griffin has nothing to disclose. Dr. Toledano has nothing to disclose. The institution of Dr. Flanagan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. Dr. Flanagan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Flanagan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Horizon Therapeutics. Dr. Flanagan has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Pharmacy times. The institution of Dr. Flanagan has received research support from Viela Bio. Dr. Flanagan has received research support from UCB. Dr. Flanagan has received publishing royalties from a publication relating to health care. Dr. Flanagan has a non-compensated relationship as a Member of medical Advisory Board with The MOG Project that is relevant to AAN interests or activities. Dr. Flanagan has a non-compensated relationship as a Editorial board member with Journal of The Neurologic Sciences that is relevant to AAN interests or activities. Dr. Flanagan has a non-compensated relationship as a Editorial board member with Neuroimmunology Reports that is relevant to AAN interests or activities. Dr. Mustafa has nothing to disclose.

Teaching Neuro Images : Hydroxychloroquine-induced vacuolar myopathy

A 58-year-old woman with long-standing mixed connective tissue disorder had proximal leg weakness for 4 months. She had been treated with 400 mg/day of hydroxychloroquine and varying doses of prednisone over 15 years. Creatine kinase was 600 U/mL. MRI of quadriceps showed edema and its biopsy revealed myriad acid-phosphatase–positive autophagic vacuoles indicating increased lysosomal activity (figure). Hydroxychloroquine induces autophagy by reducing lysosomal acidity.1 Autophagic vacuolar myopathy can be seen with chloroquine or colchicine therapy or in inherited disorders (α-glucosidase deficiency, Danon disease, and X-linked myopathy with excessive autophagy).1 Hydroxychloroquine myopathy usually presents with mild to moderate proximal weakness and rarely causes severe weakness and respiratory failure.2 Our patient's weakness improved after discontinuing hydroxychloroquine.

Case Report: Successful Anterior Circulation Thrombectomy After 24 Hours in an Adolescent

BackgroundArterial ischemic stroke in children comes with the potential for morbidity and mortality and can result in high cost of care and decreased quality of life among survivors. Children with arterial ischemic stroke are increasingly being treated with mechanical thrombectomy, but little is known about the risks and benefits 24 hours after a patient’s last known well (LKW) time. MethodsA 16-year-old female presented with acute onset of dysarthria and right hemiparesis with LKW time 22 hours prior. Pediatric National Institutes of Health Stroke Scale score was 12. Magnetic resonance imaging showed diffusion restriction and T2 hyperintensity primarily in the left basal ganglia. Magnetic resonance angiography revealed left M1 occlusion. Arterial spin labeling showed a large apparent perfusion deficit. She underwent thrombectomy with TICI3 recanalization 29.5 hours after LKW time. ResultsAt 2-month follow-up, her examination showed moderate right-hand weakness and mild diminished sensation of the right arm. ConclusionsAdult thrombectomy trials include patients up to 24 hours from their LKW time and suggest that some patients maintain a favorable perfusion profile for over 24 hours. Without intervention many go on to experience infarct expansion. The persistence of a favorable perfusion profile likely reflects robust collateral circulation. We hypothesized our patient was relying on collateral circulation to maintain the noninfarcted areas of her left middle cerebral artery territory. Owing to concern for eventual collateral failure, thrombectomy outside of the 24-hour window was performed. This case serves as a call to action to better understand the impact of collateral circulation on cerebral perfusion in children with large vessel occlusions and delineate which children may benefit from thrombectomy in a delayed time window.

Neuromonitoring Guided Vessel Identification in Iatrogenic Arterial Injury During Meningioma Resection

ABSTRACT Neuromonitoring is commonly used in neurosurgery and allows intraoperative assessment of functional pathways in the brain during surgery. Monitoring alerts can guide surgical decision making in real-time allowing surgeons to mitigate or avoid potential iatrogenic injury and subsequent postoperative neurologic sequelae that may result from cerebral ischemia or malperfusion. Here we present a case of a patient undergoing a right pterional craniotomy for the resection of a tumor which crosses midline with multimodal intraoperative neuromonitoring including somatosensory evoked potentials, transcranial motor evoked potentials, and visual evoked potentials. During the final portion of tumor resection, arterial bleeding was noted of unknown origin shortly followed by loss of right lower extremity motor evoked potential recordings. Motor evoked potential recordings in the right upper, and left upper and lower extremities were stable, as well as all somatosensory evoked potentials and visual evoked potentials. This distinct pattern of right lower extremity motor-evoked potential loss suggested compromise of the contralateral anterior cerebral artery and guided the surgeons to a rapid intervention. The patient awoke from surgery with moderate postoperative weakness in the affected limb that resolved to preoperative status by postoperative day 2, and back to normal strength prior to three-month follow-up. In this case the neuromonitoring data suggested compromise to the contralateral anterior cerebral artery which guided the surgeons to investigate and identify the site of vascular injury. The present case reinforces the utility of neuromonitoring in emergent surgical situations to guide surgical decision making.

Factors associated with functional disability in patients with acute stroke excluded from alteplase administration due to minor non-disabling neurological deficits.

Although the PRISMS study did not demonstrate the benefit of intravenous alteplase administration in patients with mild stroke within 3 h, about 30% of patients presenting with mild symptoms showed unfavorable functional outcomes. We investigated the factors predictive of functional disability at 90 days in patients who were excluded from alteplase administration due to the National Institutes of Health Stroke Scale (NIHSS) scores of 0-5 and a score between 0 and 2 for each NIHSS score item. All patients were diagnosed with acute ischemic stroke or transient ischemic attack within 4.5 h of admission to a tertiary hospital and did not receive alteplase due to a minor stroke between January 2013 and December 2020. Radiological data and clinical information were collected, including baseline and discharge NIHSS scores and modified Rankin Scale (mRS) scores at 90 days. Early neurological deterioration (END) was defined as an increase of two or more NIHSS scores. We defined moderate motor weakness as a NIHSS limb motor score of more than 3 and defined a favorable outcome as a mRS score at 90 days that was 0 or 1. During the investigation period, 400 patients did not receive alteplase. END occurred significantly more frequently in patients with large artery disease (LAD) than in those with other TOAST classifications. In the multivariate regression analysis, NIHSS per 1-point increase, presenting as moderate motor weakness, and LAD were independent predictors of poor functional outcome (OR, 1.811 NIHSS per 1-point increase; 95% confidence interval [CI], 1.503-2.182; P < 0.0001; OR, 2.173 moderate motor weakness; 95% CI 1.028-4.595; P = 0.042; OR, 2.033 LAD; 95% CI 1.099-3.762; P = 0.024, respectively). Moderate motor weakness presentation and LAD may be important factors associated with poor functional outcomes in patients with acute stroke excluded from alteplase administration due to mild symptoms.

A Smart Glove Digital System Promotes Restoration of Upper Limb Motor Function and Enhances Cortical Hemodynamic Changes in Subacute Stroke Patients with Mild to Moderate Weakness: A Randomized Controlled Trial.

This study was a randomized controlled trial to examine the effects of the RAPAEL® Smart Glove digital training system on upper extremity function and cortical hemodynamic changes in subacute stroke patients. Of 48 patients, 20 experimental and 16 controls completed the study. In addition to conventional occupational therapy (OT), the experimental group received game-based digital hand motor training with the RAPAEL® Smart Glove digital system, while the control group received extra OT for 30 min. The Fugl-Meyer assessment (UFMA) and Jebsen-Tayler hand function test (JTT) were assessed before (T0), immediately after (T1), and four weeks after intervention (T2). Cortical hemodynamics (oxyhemoglobin [OxyHb] concentration) were measured by functional near-infrared spectroscopy. The experimental group had significantly better improvements in UFMA (T1-T0 mean [SD]; Experimental 13.50 [7.49]; Control 8.00 [4.44]; p = 0.014) and JTT (Experimental 21.10 [20.84]; Control 5.63 [5.06]; p = 0.012). The OxyHb concentration change over the ipsilesional primary sensorimotor cortex during the affected wrist movement was greater in the experimental group (T1, Experimental 0.7943 × 10-4 μmol/L; Control -0.3269 × 10-4 μmol/L; p = 0.025). This study demonstrated a beneficial effect of game-based virtual reality training with the RAPAEL® Smart Glove digital system with conventional OT on upper extremity motor function in subacute stroke patients.