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J Child Neurol 2020 Jun 2:883073820924213. Epub 2020 Jun 2.

Department of Pediatrics, Division of Respirology, University of Toronto, Toronto, Ontario, Canada.

Objectives: The purpose of this study was to prospectively evaluate sleep patterns and the presence of sleep-disordered breathing in children with myasthenia gravis. We further aimed to examine the relationship between sleep and daytime respiratory function using spirometry tests including upright and supine forced vital capacity, sniff nasal inspiratory pressure, and maximal inspiratory pressure.

Methods: Eleven children between 3 and 18 years old with confirmed myasthenia gravis were recruited from The Hospital for Sick Children Neuromuscular Clinic in this prospective observational study. Read More

Muscle Nerve 2020 Jun 1. Epub 2020 Jun 1.

Department of Neurosciences, Case Western Reserve University, Cleveland, Ohio, USA.

The Clinical Features of LRP4/Agrin Antibody-Positive Myasthenia Gravis: A Multi-center Study OBJECTIVE: To study prevalence and clinical characteristics of LRP4/Agrin antibody-positive double seronegative MG (DNMG).

Methods: DNMG patients at 16 US sites were tested for LRP4 and Agrin antibodies and clinical data was collected.

Results: Of 181 DNMG patients, 14. Read More

Ann Clin Transl Neurol 2020 Jun 1. Epub 2020 Jun 1.

Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.

Objectives: The data concerning the association between Tx and ADs remain unclear and are scarce. This study was undertaken to investigate whether people with Tx are more likely to develop ADs, compared to those without Tx.

Methods: Individuals who received Tx between 2002 and 2015 were identified and matched on age and sex with individuals without Tx. Read More

IDCases 2020 13;21:e00817. Epub 2020 May 13.

Infectious Diseases and Tropical Medicine Department, Hospital de Egas Moniz - Centro de Lisboa Ocidental, Rua da Junqueira 126, 1349-019 Lisbon, Portugal.

can cause chronic skin, soft-tissue or bone infections. and is often associated with the immunocompromised state.We describe a case of a 58-year-old male patient with myasthenia gravis, chronically immunosuppressed, with a four month progression of growing erythematous, nodular and hard cutaneous lesions in the left forearm, leg and foot. Read More

Med J Malaysia 2020 May;75(3):295-297

Hospital Raja Permaisuri Bainun, Department of Radiology, Perak, Malaysia.

Recurrent pneumonia warrants a diligent work-up to identify the underlying cause that perpetuates the disease process. Insidious bulbar dysfunction is arguably the most devastating as it would be diagnosed late after significant pulmonary complications due to chronic micro-aspiration. Bulbar disorder should be considered as the potential aetiology of recurrent pulmonary infections in the young population after excluding immunodeficiency disorder and respiratory anatomical anomaly. Read More

Muscle Nerve 2020 May 28. Epub 2020 May 28.

Department of Neurology, University of California, Irvine, California.

With the exception of thymectomy, immune modulatory treatment strategies and clinical trials in myasthenia gravis over the past 50 y were mainly borrowed from experience in other nonneurologic autoimmune disorders. The current experimental therapy paradigm has significantly changed such that treatments directed against the pathological mechanisms specific to myasthenia gravis are being tested, in some cases as the initial disease indication. Key advances have been made in three areas: (i) the expanded role and long-term benefits of thymectomy, (ii) complement inhibition to prevent antibody-mediated postsynaptic membrane damage, and (iii) neonatal Fc receptor (FcRn) inhibition as in vivo apheresis, removing pathogenic antibodies. Read More

Intern Med 2020 May 26. Epub 2020 May 26.

Department of Neurology, Nagoya City University Graduate School of Medical Sciences, Japan.

This article describes the first reported case of myasthenia gravis (MG) seropositive for both acetylcholine receptor antibody and low-density lipoprotein receptor-related protein 4 antibody, complicated by autoimmune polyglandular syndrome (APS) type 3. The patient exhibited myasthenic weakness restricted to the ocular muscles and ptosis. Severe clinical deterioration ensued with predominant bulbar symptoms. Read More

J Neurol Sci 2020 May 21;414:116930. Epub 2020 May 21.

Beth Israel Deaconess Medical Center, Department of Neurology, 330 Brookline Ave, Boston 02215, MA, USA.

Background: The COVID-19 pandemic mandated rapid transition from face-to-face encounters to teleneurology visits. While teleneurology is regularly used in acute stroke care, its application in other branches of neurology was limited. Here we review how the recent pandemic has created a paradigm shift in caring for patients with chronic neurological disorders and how academic institutions have responded to the present need. Read More

Front Oncol 2020 5;10:578. Epub 2020 May 5.

Department of Radiology, Waikato Hospital, Hamilton, New Zealand.

Thymomas consist of neoplastic thymic cells intermixed with variable numbers of non-neoplastic lymphocytes. Metastatic thymomas are typically managed with non-curative chemotherapy to control tumor-related symptoms; no prolonged survival is expected. Metabolic-based approaches, such as fasting and ketogenic diets, target cancer cell metabolism by creating an increased reliance on ketones while decreasing glucose, glutamine, and growth factor availability, theoretically depriving cancer cells of their metabolic fuels while creating an unfavorable environment for cancer growth, which may be beneficial in metastatic thymoma. Read More

Front Immunol 2020 8;11:707. Epub 2020 May 8.

Department of Neurology, University of California, Davis, Davis, CA, United States.

Thirty to fifty percent of patients with acetylcholine receptor (AChR) antibody (Ab)-negative myasthenia gravis (MG) have Abs to muscle specific kinase (MuSK) and are referred to as having MuSK-MG. MuSK is a 100 kD single-pass post-synaptic transmembrane receptor tyrosine kinase crucial to the development and maintenance of the neuromuscular junction. The Abs in MuSK-MG are predominantly of the IgG4 immunoglobulin subclass. Read More

J Clin Neuromuscul Dis 2020 Jun;21(4):195-204

Departments of Neurology and Pathology (Neuropathology), University of Pittsburgh School of Medicine, Pittsburgh, PA.

Four retrospective studies from the United States, Europe, and Asia address outcomes in juvenile myasthenia gravis. Common features include earlier onset with ocular myasthenia gravis (MG) and generally good outcomes overall. Patients who were seronegative, had equivocal acetylcholine receptor (AChR) antibodies, or had only clustered AChR antibodies had better outcomes. Read More

Muscle Nerve 2020 May 24. Epub 2020 May 24.

Department of Neurology, University of Missouri Hospital Columbia, MO.

Introduction: Patients with myasthenia gravis (MG) may experience worsening symptoms outside of a clinical setting. A method of diagnosing and triaging such individuals would be valuable. This study gauged the viability of a nurse-administered single breath count test (SBCT) over the telephone for assessing MG exacerbations. Read More

Muscle Nerve 2020 May 23. Epub 2020 May 23.

Department of Neurology, University of Chicago Medical Center.

J Neuromuscul Dis 2020 May 22. Epub 2020 May 22.

University of Missouri Health Care, Columbia, MO, USA.

Background: The role of the complement cascade in acetylcholine receptor antibody-negative (AChR-) myasthenia gravis (MG) is unclear.

Objective: To assess the efficacy and tolerability of eculizumab (terminal complement inhibitor) in patients with AChR-MG.

Methods: Retrospective chart review of data from six patients treated for 12 months with eculizumab for treatment-refractory, AChR-(by radioimmunoassay) generalized MG (gMG). Read More

J Pediatr Surg 2020 Apr 25. Epub 2020 Apr 25.

Mazza Foundation Neuromuscular Disorders Program, 225 East Chicago Avenue, Box 51, Chicago, IL 60611-2605; Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E. Chicago Avenue, Box 63, Chicago, IL 60611-2605; Northwestern University Feinberg School of Medicine, 225 E. Chicago Avenue, Box 63, Chicago, IL 60611-2605.

Mult Scler Relat Disord 2020 May 13;43:102173. Epub 2020 May 13.

Basic Research Center in Dementias and Central Nervous System Demyelinating Diseases, Instituto Nacional de Ciencias Neurológicas, 1271 Ancash Street, Lima 15003. Perú.

Neuromyelitis optica spectrum disorders (NMOSD) and myasthenia gravis (MG) are disorders that affect the central nervous system and the neuromuscular junction respectively. Although both conditions are rare, reports of the coexistence of these two pathologies are increasing worldwide. Rarely, patients with MG develop aggressive forms of neuromyelitis optica (NMO) after thymectomy. Read More

Clin Neurol Neurosurg 2020 May 15;195:105923. Epub 2020 May 15.

Department of Neurology, Institute of Neurosciences, Ramaiah Medical College & Hospital, Bangalore-560054, Karnataka, India.

Gene 2020 May 19;752:144774. Epub 2020 May 19.

Department of Translational Research and of New Surgical and Medical Technologies, Lab. of Medical Genetics, University of Pisa, Medical School, Via Roma 55, 56126 Pisa, Italy; Department of Laboratory Medicine, Pisa University Hospital, Pisa, Italy.

Background: Hypermethylation of the growth hormone secretagogue receptor gene (GHSR) is increasingly observed in human cancers, suggesting that it could represent a pan-cancer biomarker of clinical interest. However, little is still known concerning GHSR methylation levels in thymic epithelial tumors, and particularly in thymomas from patients with Myasthenia Gravis (TAMG).

Material And Methods: In the present study we collected DNA samples from circulating lymphocytes and surgically resected tumor tissues of 65 TAMG patients, and from the adjacent healthy thymic tissue available from 43 of them. Read More

Hematol Oncol Stem Cell Ther 2020 May 15. Epub 2020 May 15.

Department of Medical Oncology, Hospital Clínico San Carlos, Madrid, Spain.

As immunotherapy agents are incorporated into the routine oncological practice, the number of patients at the risk of immune-related adverse events has increased dramatically. However, the prompt identification and effective management of severe autoimmune complications remain a challenge. We report the case of a patient with metastatic lung adenocarcinoma who experienced a fatal autoimmune storm 3 weeks after the first dose of anti-programmed death receptor-1 (PD-1) agent pembrolizumab, which included thyroiditis, hepatitis, myositis, myocarditis, pneumonitis, and myasthenia gravis. Read More

Adv Sci (Weinh) 2020 May 20;7(10):2001296. Epub 2020 May 20.

[This corrects the article DOI: 10.1002/advs.201901441. Read More

Clin Immunol 2020 May 11;216:108462. Epub 2020 May 11.

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou 510080, China. Electronic address:

Acetylcholine receptor (AChR)-specific CD4+ T cells play a driving role in myasthenia gravis (MG) by regulating the production of autoantibodies. However, the quantitative features of AChR-specific T cells and their clinical significance in MG are unclear. In this study, we adopted standard and cultured enzyme-linked immunosorbent spot (ELISPOT) assays to quantify subpopulations of AChR-specific CD4+ T cells in MG patients, and evaluate their correlation with clinical characteristics. Read More

Front Immunol 2020 6;11:782. Epub 2020 May 6.

Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.

The thymus is involved in autoimmune Myasthenia gravis (MG) associated with anti-acetylcholine (AChR) antibodies. In MG, thymic regulatory T cells (Treg) are not efficiently suppressive, and conventional T cells (Tconv) are resistant to suppression. To better understand the specific role of the thymus in MG, we compared the phenotype and function of peripheral and thymic Treg and Tconv from controls and MG patients. Read More

Semin Thorac Cardiovasc Surg 2020 May 17. Epub 2020 May 17.

University of Torino Italy, Department of Surgical Sciences Unit of Thoracic Surgery, Corso Dogliotti, 14 10126, Torino, ITALY.

Front Immunol 2020 5;11:613. Epub 2020 May 5.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy.

The use of rituximab (RTX), an anti-CD20 monoclonal antibody (Ab), in refractory myasthenia gravis (MG) is associated with a better response in patients with Abs to the muscle-specific tyrosine kinase (MuSK) than in other MG subgroups. Anti-MuSK Abs are mostly IgG4 with proven pathogenicity and positive correlation with clinical severity. The rapid and sustained response to RTX may be related to MuSK Ab production by short-lived Ab-secreting cells derived from specific CD20 B cells. Read More

Ther Adv Neurol Disord 2020 6;13:1756286420911784. Epub 2020 May 6.

Department of Neurology, University of North Carolina, Chapel Hill, NC, USA.

Background: In the phase III eculizumab for refractory generalized myasthenia gravis REGAIN study [ClinicalTrials.gov identifier: NCT01997229] and its open-label extension (OLE) [ClinicalTrials.gov identifier: NCT02301624], patients with treatment-refractory antiacetylcholine receptor antibody-positive generalized myasthenia gravis had clinically meaningful improvements with eculizumab placebo. Read More

Int J Mol Sci 2020 May 14;21(10). Epub 2020 May 14.

Centre of Radiochemistry and Nuclear Chemistry, Institute of Nuclear Chemistry and Technology, Dorodna 16, 03-195 Warsaw, Poland.

Methotrexate, a structural analogue of folic acid, is one of the most effective and extensively used drugs for treating many kinds of cancer or severe and resistant forms of autoimmune diseases. In this paper, we take an overview of the present state of knowledge with regards to complex mechanisms of methotrexate action and its applications as immunosuppressive drug or chemotherapeutic agent in oncological combination therapy. In addition, the issue of the potential benefits of methotrexate in the development of neurological disorders in Alzheimer's disease or myasthenia gravis will be discussed. Read More

Int J Neurosci 2020 May 18:1-10. Epub 2020 May 18.

Department of Vascular Surgery, The First Affiliated Hospital of Hebei North University, Zhangjiakou, P. R. China.

Myasthenia gravis (MG) is an antibody-mediated, autoimmune neuromuscular disease. Reports have indicated that the CD28/B7 ligand interactions play a crucial role during primary immune responses. Hence, the aim of the present study was to investigate the possible effects of the CD28/B7 pathway on the occurrence and development of MG and its associated cytokine factors. Read More

Am J Case Rep 2020 May 17;21:e921431. Epub 2020 May 17.

Nephrology Section, Forsyth Medical Center, Winston-Salem, NC, USA.

BACKGROUND The effectiveness of eculizumab (a terminal complement inhibitor) in acetylcholine receptor (AChR) antibody-negative generalized myasthenia gravis (gMG) is unknown. CASE REPORT A female patient was diagnosed with AChR-antibody and muscle-specific kinase (MuSK) antibody-negative gMG in March 2016. In January 2017, the patient was referred for plasma exchange (PLEX) because of continuing symptoms. Read More

Optom Vis Sci 2020 May;97(5):377-382

Department of Optometry, VA Boston Healthcare System, Boston, Massachusetts.

Significance: This case emphasizes the high degree of suspicion necessary for a timely diagnosis of myasthenia gravis.

Purpose: This report discusses a case of ocular myasthenia gravis presenting as a pseudo-third nerve palsy with ptosis. The pathogenesis, treatment, and management of ocular myasthenia gravis are discussed. Read More

BMJ Case Rep 2020 May 13;13(5). Epub 2020 May 13.

Department of Clinical Immunology and Allergy, Royal North Shore Hospital, Sydney, New South Wales, Australia.

The advent of immune checkpoint inhibitors (ICIs) for cancer therapy has heralded increasing frequency of immune-related adverse events including endocrinopathies, hepatitis, colitis and rarely myocarditis and myasthenia gravis (MG). The heterogeneity in clinical presentations regardless of organ-specific involvement can lead to delayed recognition and management of these events and adverse health outcomes. We describe a case of ICI-induced subclinical focal myocarditis that was recognised and treated in the broader context of MG. Read More

J Cardiothorac Surg 2020 May 12;15(1):89. Epub 2020 May 12.

Center of Treatment of Myasthenia Gravis Hebei Province, First Hospital of Shijiazhuang, Fangbei road No. 9, Shijiazhuang, 050011, Hebei Province, China.

Background: Compared with traditional open surgery for thymectomy, video-assisted thoracoscopic surgery (VATS) reduces hospital stay, decreases postoperative pain, and recovers faster. VATS has become increasingly popular in the past decade. VATS techniques to perform a thymectomy include subxiphoid video-assisted thoracoscopic surgery (SVATS) or lateral video-assisted thoracoscopic surgery (LVATS). Read More

J Thorac Dis 2020 Apr;12(4):1529-1539

Department of Cardiothoracic Surgery, Jiangxi Provincial People's Hospital Affiliated to Nanchang University, Nanchang 330006, China.

Background: Approaches of thoracoscopic thymectomy for myasthenia gravis (MG) are debatable. The subxiphoid approach is widely utilized recent years for its better visualization of the anterior mediastinum. In the present study, we compared perioperative outcomes and mid-term effects of the extended thymectomy for MG between the subxiphoid approach and the routine right-thoracic approach. Read More

Neuroophthalmology 2020 Jun 9;44(3):148-156. Epub 2019 Oct 9.

Department of Medicine, Neurology, University Health Network and University of Toronto, Toronto, Canada.

There is a pressing need for a robust rating scale for ocular myasthenia gravis (OMG). Rating scales for myasthenia gravis (MG) research have a predominant focus on generalised disease. We present results of the first dedicated rating scale for OMG: the ocular myasthenia gravis rating scale (OMGRate). Read More

Muscle Nerve 2020 May 11. Epub 2020 May 11.

Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.

Introduction: Coronavirus disease 2019 (COVID-19) has rapidly become a global pandemic, but little is known about its potential impact on patients with myasthenia gravis (MG).

Methods: We studied the clinical course of COVID-19 in five hospitalized patients with autoimmune MG (four with acetylcholine receptor antibodies, one with muscle-specific tyrosine kinase antibodies) between April 1, 2020-April 30-2020.

Results: Two patients required intubation for hypoxemic respiratory failure, whereas one required significant supplemental oxygen. Read More

Front Genet 2020 24;11:393. Epub 2020 Apr 24.

Liggins Institute, The University of Auckland, Auckland, New Zealand.

Muscle weakness is a common consequence of both aging (sarcopenia) and neuromuscular disorders (NMD). Whilst genome-wide association (GWA) studies have identified genetic variants associated with grip strength (GS; measure of muscle strength/weakness) and NMDs, including multiple sclerosis (MS), myasthenia gravis (MG) and amyotrophic lateral sclerosis (ALS), it is not known whether there are common mechanisms between these phenotypes. To examine this, we have integrated GS and NMD associated genetic variants (single nucleotide polymorphisms; SNPs) in a multimorbid analysis that leverages high-throughput chromatin interaction (Hi-C) data and expression quantitative trait loci data to identify target genes (i. Read More

J Neurol Sci 2020 Apr 16;414:116830. Epub 2020 Apr 16.

Department of Neurology, Yale School of Medicine, New Haven, CT, USA. Electronic address:

Objectives: Though much information exists about the diagnosis, treatment, and epidemiology of myasthenia gravis (MG), a comprehensive data registry and biorepository is critical to better understand disease mechanisms, treatment outcomes, and the impact of treatment strategies. We aimed to design and implement the "Exploring Outcomes and Characteristics of Myasthenia Gravis (EXPLORE-MG) Registry" to address these knowledge gaps.

Methods: A web-based, non-interventional, longitudinal, observational disease and outcomes registry was developed; incorporating NIH recommended common data elements for the study of MG. Read More

Neuromuscul Disord 2020 Apr 13. Epub 2020 Apr 13.

Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China. Electronic address:

Muscle-specific tyrosine kinase antibody (MuSK-Ab) and acetylcholine receptor antibody (AChR-Ab) coexistence in myasthenia gravis (MG) is very rare. In this report, two children with AChR-Ab switching to double antibody positive MG (DP-MG) or MuSK-Ab positive MG (MuSK-MG) are described. Six similar cases were found in the literature via online database search. Read More

Thorac Cancer 2020 May 8. Epub 2020 May 8.

Department of Thoracic Surgery, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, China.

Objectives: To evaluate the oncological prognosis and neurological outcomes for patients with thymic epithelial tumors (TETs) after thymectomy.

Methods: Consecutive patients with TETs who underwent thymectomy at Beijing Hospital from January 2011 to December 2018 were retrospectively enrolled into the study. Clinical, pathological, and perioperative data was collected. Read More

Gan To Kagaku Ryoho 2020 Feb;47(2):219-223

Dept. of Neurology, Keio University School of Medicine.

The specific characteristics of neuromuscular immune-related adverse events(irAEs)including myasthenia gravis have not been elucidated because the frequency is generally low, ranging from 1-2% of cancer patients undergoing therapy with programmed cell death 1(PD-1)inhibitors. Inflammatory myopathy(myositis)is also one of the representative neuromuscular irAEs. A variety of studies have demonstrated that myositis as an irAE is often accompanied by ocular muscle symptoms, which physicians have often termed "myasthenia-like" or "pseudo-myasthenic". Read More

Front Immunol 2020 16;11:664. Epub 2020 Apr 16.

Institute of Pathology, University Medical Centre Mannheim, Heidelberg University, Mannheim, Germany.

A unique feature of thymomas is their unrivaled frequency of associated myasthenia gravis (MG). Previous studies reported that MG+ thymomas contain a larger number of mature "pre-emigrant" CD4+ T cells than MG- thymomas and that most thymomas do not contain AIRE expressing cells irrespective of MG status. These findings suggest that CD4+ T cells that mature inside the abnormal microenvironment of thymomas and egress to the blood are critical to the development of thymoma-associated MG (TAMG) irrespective of thymoma histotype. Read More

Muscle Nerve 2020 May 5. Epub 2020 May 5.

Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama.

Introduction: Quantitative Myasthenia Gravis (QMG) and Myasthenia Gravis Activities of Daily Living (MG-ADL) scales were compared using the data from the Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy (MGTX) study.

Methods: Correlation between QMG and MG-ADL raw and change-from-baseline scores was calculated every 3 months for 60 months based on treatment groups and minimal manifestation status (MMS).

Results: QMG and MG-ADL change-from-baseline scores correlated significantly, with increasing strength of correlation over time, in both treatment groups. Read More

JAMA Neurol 2020 May 4. Epub 2020 May 4.

Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

Importance: Use of biologic agents in generalized myasthenia gravis is generally limited to therapy-refractory cases; benefit in new-onset disease is unknown.

Objective: To assess rituximab in refractory and new-onset generalized myasthenia gravis and rituximab vs conventional immunotherapy in new-onset disease.

Design, Setting, And Participants: A retrospective cohort study with prospectively collected data was conducted on a county-based community sample at Karolinska University Hospital, Stockholm, Sweden. Read More

Pharmacoeconomics 2020 May 4. Epub 2020 May 4.

Division of Neurology, Department of Medicine, The Ottawa Hospital, and Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Canada.

Objectives: The objective of our study was to conduct a systematic literature review of economic costs (henceforth costs) associated with myasthenia gravis (MG).

Methods: We searched MEDLINE (through PubMed), CINAHL, Embase, PsycINFO, and Web of Science for studies reporting costs of MG published from inception up until March 18, 2020, without language restrictions. Two reviewers independently screened records for eligibility, extracted the data, and assessed included studies for risk of bias using the Newcastle-Ottawa Scale. Read More

Neuromuscul Disord 2020 Apr 23;30(4):331-335. Epub 2020 Feb 23.

Center for Predictive and Preventive Genetics (CGPP), Institute of Molecular and Cellular Biology (IBMC), Porto, Portugal; 3S - Institute of Investigation and Innovation in Health, Universidade do Porto, Porto, Portugal; UnIGENe (Unit for Genetic and Epidemiological Research in Neurological Diseases), IBMC (Institute for Molecular and Cell Biology), Universidade do Porto, Porto, Portugal.

Congenital myasthenic syndromes are disorders of the neuromuscular junction resulting from genetic defects in its components. Clinical presentations are diverse and virtually always of early onset. We report a 67-year-old female patient first presenting with episodes of sudden respiratory failure. Read More

Rev Neurol (Paris) 2020 Apr 20. Epub 2020 Apr 20.

Reference Center of Neuromuscular disorders and ALS, Timone University Hospital, AP-HM, 13385 Marseille, France; Medical Genetics, Aix-Marseille Université, Inserm UMR_1251, 13005 Marseille, France. Electronic address:

In France, the epidemic phase of COVID-19 caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began in February 2020 and resulted in the implementation of emergency measures and a degradation in the organization of neuromuscular reference centers. In this special context, the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS) has established guidance in an attempt to homogenize the management of neuromuscular (NM) patients within the French territory. Hospitalization should be reserved for emergencies, the conduct of treatments that cannot be postponed, check-ups for which the diagnostic delay may result in a loss of survival chance, and cardiorespiratory assessments for which the delay could be detrimental to the patient. Read More

Neurosci Lett 2020 Apr 28;731:135014. Epub 2020 Apr 28.

Department of Neuroscience, Brown University, Providence, RI 02912, United States. Electronic address:

The neuromuscular junction (NMJ) is the vehicle for fast, reliable and robust communication between motor neuron and muscle. The unparalleled accessibility of this synapse to morphological, electrophysiological and genetic analysis has yielded an in depth understanding of many molecular components mediating its formation, maturation and stability. However, key questions surrounding the signaling pathways mediating these events and how they play out across the lifetime of the synapse remain unanswered. Read More

Neuropsychiatr Dis Treat 2020 14;16:959-967. Epub 2020 Apr 14.

Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, People's Republic of China.

Background: Myasthenia gravis (MG) is an autoantibody-mediated neuromuscular disorder. Approximately 10-20% of all MG patients experience thymoma (benign tumor arising from thymus tissue). Thymectomy has been the standard of care for thymomatous myasthenia gravis (TMG). Read More

ACG Case Rep J 2020 Mar 16;7(3):e00340. Epub 2020 Mar 16.

Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL.

Myasthenia gravis (MG) is an autoimmune disease that affects the postsynaptic membrane at the neuromuscular junction. In MG, antibodies bind to acetylcholine receptors inducing muscle weakness. The weakness typically increases with exercise and repetitive muscle use. Read More

Cureus 2020 Mar 26;12(3):e7425. Epub 2020 Mar 26.

Internal Medicine, Nishtar Medical University and Hospital, Multan, PAK.

Myasthenia gravis (MG) is an acquired, rare autoimmune disease that occurs due to autoantibodies blocking neuromuscular transmission. Its pathophysiology involves production of antibodies against the nicotinic acetylcholine receptors. Patients with negative anti-acetylcholine receptors (AChR) antibodies results are recognized as seronegative myasthenia gravis. Read More

Medicine (Baltimore) 2020 Apr;99(17):e19901

The 3rd Teaching Hospital, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, China.

Background: The aim of this systematic review with meta-analysis is to determine the efficacy and security of acupuncture in treatment of ocular myasthenia gravis and find out whether or not the quick short-term efficacy of acupuncture exists.

Methods: The following electronic databases will be searched by 2 independent reviewers: PubMed, Cochrane Library, EMBASE, Springer, China National Knowledge Infrastructure, Wanfang, and Chinese Biomedical Literature Database. All randomized controlled trials on acupuncture for ocular myasthenia gravis published in electronic databases from inception to March 1, 2020, with language restricted in Chinese and English will be included in the study. Read More