Journal of Clinical Neuromuscular Disease

OBJECTIVES: To evaluate patient attitudes and beliefs toward thymectomy for myasthenia gravis (MG). METHODS: The Myasthenia Gravis Foundation of America administered a questionnaire to the MG Patient Registry, an ongoing longitudinal survey of adult MG patients. Questions assessed reasons for or against thymectomy and how hypothetical scenarios would have affected their decision. RESULTS: Of 621 respondents, 190 (31%) reported a history of thymectomy...

OBJECTIVE: Clenbuterol, a beta-agonist, has plausible mechanisms for treating amyotrophic lateral sclerosis (ALS). In this highly inclusive open-label trial (NCT04245709), we aimed to study the safety and efficacy of clenbuterol in patients with ALS. METHODS: All participants received clenbuterol starting at 40 μg daily and increased to 80 μg twice daily. Outcomes included safety, tolerability, ALS Functional Rating Score (ALSFRS-R) progression, forced vital capacity (FVC) progression, and myometry...

OBJECTIVES: The goals of this study were to assess the feasibility of maintaining multidisciplinary remote care, patient preferences, and outcomes of this transition because of COVID-19. METHODS: From March 18, 2020 to June 3, 2020, 127 patients with amyotrophic lateral sclerosis (ALS) who were scheduled to be seen in our ALS clinic were contacted and scheduled according their preference for a telemedicine visit, telephone visit, or postponement until the next available in-person visit...

OBJECTIVES: To determine the relationship between the number of plasma exchanges and clinical outcome in patients experiencing myasthenic crisis. METHODS: We retrospectively reviewed all episodes of myasthenia gravis exacerbation/crisis who received plasmapheresis in patients admitted to a single-center tertiary care referral center from July 2008 to July 2017. We performed statistical analyses to determine whether the increased number of plasma exchanges improves the primary outcome (hospital length of stay) and the secondary outcome (disposition to home, skilled nursing facility, long-term acute care hospital, or death)...

The Neonatal Fc Receptor (FcRn) is integral to a wide variety of processes including IgG recycling, serum albumin turnover, and bacterial opsonization. Thus, targeting FcRn will increase antibody degradation including pathogenic IgGs. FcRn inhibition provides a novel therapeutic mechanism by which autoantibody titers are reduced resulting in clinical improvement and disease abatement. The FcRn targeting mechanism is similar to that of intravenous immunoglobulin (IVIg) in which saturated FcRn facilitates accelerated pathogenic IgG degradation...

The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically. We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD...

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Livedoid vasculopathy (LV) is an ulcerative disorder of the lower extremities characterized by dermal vessel thrombosis with unclear cause. Recent reports of LV-associated upper extremity peripheral neuropathy and epineurial thrombosis suggest a systemic etiology for the condition. We sought to outline the characteristics of peripheral neuropathy in patients with LV. Cases of LV with concurrent peripheral neuropathy and reviewable electrodiagnostic testing reports were identified by electronic medical record database query and examined in detail...

OBJECTIVES: To report demyelinating neuropathies after COVID-19 vaccination. METHODS: Case report. RESULTS: Four cases of demyelinating neuropathies after COVID-19 vaccination were identified at the University of Nebraska Medical Center from May to September 2021. Three were male and 1 was a female, ages 26-64 years. Three cases received Pfizer-BioNTech vaccine and 1 Johnson & Johnson. Symptom onset ranged from 2 to 21 days after vaccination...

OBJECTIVES: To provide an overview about the phenotype, genotype, treatment, and outcome of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome. METHODS: Systematic review by application of appropriate search terms. RESULTS: NARP syndrome is a syndromic mitochondrial disorder due to pathogenic variants in MT-ATP6. The canonical phenotypic features of NARP syndrome include proximal muscle weakness, axonal neuropathy, cerebellar ataxia, and retinitis pigmentosa...

This update begins with the results of a positive trial of intravenous immunoglobulin in dermatomyositis and a study of molecular and morphologic patterns in inclusion body myositis that may explain treatment refractoriness. Single center reports of muscular sarcoidosis and immune-mediated necrotizing myopathy follow. There is also a report of caveolae-associated protein 4 antibodies as a potential biomarker and cause of immune rippling muscle disease. The remainder covers updates on muscular dystrophies as well as congenital and inherited metabolic myopathies with an emphasis on genetic testing...

INTRODUCTION: Guillain-Barré syndrome (GBS) is an immune-mediated polyradiculoneuropathy that remains a debilitating disease despite medical treatment. Numerous challenges still exist, including the development of disease-modifying therapies that can improve prognosis, particularly in patients with poor prognostic outcomes. In this study, we explored clinical trials related to GBS, analyzed the trial characteristics, suggested some ideas for improvement, and discussed recent advances...

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