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<jats:title>Abstract</jats:title><jats:p>Small‐fiber neuropathy (SFN) is a disorder that exclusively affects the small nerve fibers, sparing the large nerve fibers. Thinly myelinated Aδ‐fibers and unmyelinated C‐fibers are damaged, leading to development of neuropathic pain, thermal dysfunction, sensory symptoms, and autonomic disturbances. Although many SFNs are secondary and due to immunological causes or metabolic disturbances, the etiology is unknown in up to half of the patients. Over the years, this proportion of “idiopathic SFN” has decreased, as familial and genetic causes have been discovered, thus shifting a proportion of once “idiopathic” cases to the genetic category. After the discovery of <jats:italic>SCN9A</jats:italic>‐gene variants in 2012, <jats:italic>SCN10A</jats:italic> and <jats:italic>SCN11A</jats:italic> variants have been found to be pathogenic in SFN. With improved accessibility of SFN diagnostic tools and genetic tests, many non‐<jats:italic>SCN</jats:italic> variants and genetically inherited systemic diseases involving the small nerve fibers have also been described, but only scattered throughout the literature. There are 80 <jats:italic>SCN</jats:italic> variants described as causing SFN, 8 genes causing hereditary sensory autonomic neuropathies (HSAN) described with pure SFN, and at least 7 genes involved in genetically inherited systemic diseases associated with SFN. This systematic review aims to consolidate and provide an updated overview on the genetic variants of SFN to date‐‐‐<jats:italic>SCN</jats:italic> genes and beyond. Awareness of these genetic causes of SFN is imperative for providing treatment directions, prognostication, and management of expectations for patients and their health‐care providers.</jats:p>

<jats:title>Abstract</jats:title><jats:sec><jats:title>Introduction/Aims</jats:title><jats:p>Hourglass‐like constrictions (HGCs) of involved nerves in neuralgic amyotrophy (NA) (Parsonage–Turner syndrome) have been increasingly recognized with magnetic resonance neurography (MRN). This study sought to determine the sensitivity of HGCs, detected by MRN, among electromyography (EMG)‐confirmed NA cases.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This study retrospectively reviewed records of patients with the clinical diagnosis of NA, and with EMG confirmation, who underwent 3‐Tesla MRN within 90 days of EMG at a single tertiary referral center between 2011 and 2021. “Severe NA” positive cases were defined by a clinical diagnosis and specific EMG criteria: fibrillation potentials or positive sharp waves, along with motor unit recruitment (MUR) grades of “discrete” or “none.” On MRN, one or more HGCs, defined as focally decreased nerve caliber or diffusely beaded appearance, was considered “imaging‐positive.” Post hoc inter‐rater reliability for HGCs was measured by comparing the original MRN report against subsequent blinded interpretation by a second radiologist.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>A total of 123 NA patients with 3‐Tesla MRN performed within 90 days of EMG were identified. HGCs were observed in 90.2% of all NA patients. In “severe NA” cases, based on the above EMG criteria, HGC detection resulted in a sensitivity of 91.9%. Nerve‐by‐nerve analysis (183 nerve‐muscle pairs, nerves assessed by MRN, muscles assessed by EMG) showed a sensitivity of 91.0%. The second radiologist largely agreed with the original HGC evaluation, (94.3% by subjects, 91.8% by nerves), with no significant difference between evaluations (subjects: <jats:italic>χ</jats:italic><jats:sup>2</jats:sup> = 2.27, <jats:italic>P</jats:italic> = .132, nerves: <jats:italic>χ</jats:italic><jats:sup>2</jats:sup> = 0.98, <jats:italic>P</jats:italic> = .323).</jats:p></jats:sec><jats:sec><jats:title>Discussion</jats:title><jats:p>MRN detection of HGCs is common in NA.</jats:p></jats:sec>

<jats:title>Abstract</jats:title><jats:p>Intravenous immune globulin (IVIG) is an immune‐modulating biologic therapy that is increasingly being used in neuromuscular disorders despite the paucity of high‐quality evidence for various specific diseases. To address this, the AANEM created the 2009 consensus statement to provide guidance on the use of IVIG in neuromuscular disorders. Since then, there have been several randomized controlled trials for IVIG, a new FDA‐approved indication for dermatomyositis and a revised classification system for myositis, prompting the AANEM to convene an ad hoc panel to update the existing guidelines.New recommendations based on an updated systemic review of the literature were categorized as Class I‐IV. Based on Class I evidence, IVIG is recommended in the treatment of chronic inflammatory demyelinating polyneuropathy, Guillain‐Barré Syndrome (GBS) in adults, multifocal motor neuropathy, dermatomyositis, stiff‐person syndrome and myasthenia gravis exacerbations but not stable disease. Based on Class II evidence, IVIG is also recommended for Lambert‐Eaton myasthenic syndrome and pediatric GBS. In contrast, based on Class I evidence, IVIG is not recommended for inclusion body myositis, post‐polio syndrome, IgM paraproteinemic neuropathy and small fiber neuropathy that is idiopathic or associated with tri‐sulfated heparin disaccharide or fibroblast growth factor receptor‐3 autoantibodies. Although only Class IV evidence exists for IVIG use in necrotizing autoimmune myopathy, it should be considered for anti‐hydroxy‐3‐methyl‐glutaryl‐coenzyme A reductase myositis given the risk of long‐term disability. Insufficient evidence exists for the use of IVIG in Miller‐Fisher syndrome, IgG and IgA paraproteinemic neuropathy, autonomic neuropathy, chronic autoimmune neuropathy, polymyositis, idiopathic brachial plexopathy and diabetic lumbosacral radiculoplexopathy.</jats:p>

<jats:title>Abstract</jats:title><jats:sec><jats:title>Introduction/Aims</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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 (<jats:italic>n</jats:italic> = 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.</jats:p></jats:sec><jats:sec><jats:title>Discussion</jats:title><jats:p>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.</jats:p></jats:sec>

<jats:title>Abstract</jats:title><jats:sec><jats:title>Introduction/Aims</jats:title><jats:p>Myasthenia gravis (MG) is a rare, life‐threatening immune‐related adverse effect (irAE) of immune checkpoint inhibitor (ICI) treatment. C5‐complement inhibitors are effective treatments for acetylcholine receptor antibody (AChR ab) positive generalized MG. We describe the use of eculizumab/ravulizumab in two patients with MG receiving concomitant pembrolizumab.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>This was a retrospective review of two medical records.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Patient 1: An 80‐year‐old male with recurrent, non‐muscle invasive transitional cell carcinoma of the bladder developed ICI‐induced AChR ab positive MG (ICI‐MG), myositis, and myocarditis 2 weeks after the first dose of pembrolizumab. Myositis responded to corticosteroids. MG responded to eculizumab, followed by ravulizumab. He died of metastatic cancer 8 months later. Patient 2: A 58‐year‐old male had refractory thymoma‐associated AChR ab‐positive MG, which responded to eculizumab. He developed metastatic Merkel cell cancer necessitating pembrolizumab. MG remained stable on eculizumab. He had no irAEs for 22 months, with positron emission tomographic resolution of cancer. He then developed mild, indolent retinal vasculitis, which responded to prednisone. Discontinuation of pembrolizumab for 5 months resulted in cancer recurrence; pembrolizumab was resumed with peri‐infusion pulse prednisone. MG remained stable and he continues eculizumab.</jats:p></jats:sec><jats:sec><jats:title>Discussion</jats:title><jats:p>In the first patient, eculizumab, followed by ravulizumab, improved ICI‐MG. In the second patient, eculizumab treatment may have had a prophylactic effect on the development of ICI‐induced irAEs. The effect of complement inhibition on cancer outcomes of ICI therapy is unknown. A possible biologic basis for complement inhibitors in reducing irAEs of ICI, especially in the presence of underlying autoimmune disease, merits evaluation.</jats:p></jats:sec>

<jats:title>Abstract</jats:title><jats:sec><jats:title>Introduction/Aims</jats:title><jats:p>Therapeutic plasma exchange (TPE) is sometimes used as maintenance therapy for the treatment of myasthenia gravis (MG). Efgartigimod is a newly approved monoclonal antibody targeting the neonatal Fc receptor, effectively reducing immunoglobulin G levels in the treatment of MG. The aim of this study was to describe the clinical experience of switching patients from maintenance TPE treatment to efgartigimod infusions.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>A retrospective review of medical records was performed on patients previously treated with maintenance TPE for the diagnosis of MG and subsequently switched to efgartigimod infusions. Clinical characteristics and response to treatment switch were described.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Five of seven patients demonstrated improvement on Myasthenia Gravis Foundation of America‐post intervention status, one was unchanged and one was in pharmacological remission. This was reflected in pre‐ and postswitch MG activities of daily living and MG manual muscle testing scores. All patients have continued on efgartigimod therapy. The duration of treatment with efgartigimod at the time of this review ranged from 1 to 13 months. Recurrent uncomplicated infections were noted in two patients on efgartigimod therapy. Maintenance dosing regimens of efgartigimod varied based on clinical response to treatment and side effects.</jats:p></jats:sec><jats:sec><jats:title>Discussion</jats:title><jats:p>In this series, efgartigimod appeared effective and well tolerated in patients switched from TPE.</jats:p></jats:sec>