PracticeUpdate

PracticeUpdate is guided by a world-renowned Editorial and Advisory Board that represents community practitioners and academic specialists with cross-disciplinary expertise. Editor-in-Chief Mark Hallett MD Associate Editors Argye Hillis MD MA, Avindra Nath MD Advisory Board Marinos Dalakas MD, Nina Schor MD PhD Patrick Wen MD Editorial Contributors Shila Azodi MD , Mona Bahouth MD Omar Khan MD Codrin Lungu MD Elisabeth Marsh MD Sarah Matteson Kranick MD

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For a complete listing of disclosures for each board member and editorial contributor, please refer to their profile on PracticeUpdate.com PracticeUpdate ’s mission is to help medical professionals navigate the vast array of available literature and focus on the most critical information for their patients and practice. PracticeUpdate Conference Series is a collection of key research from leading international conferences, reviewed by the PracticeUpdate editorial and advisory board, made available in print format. These news highlights and more are also available online at PracticeUpdate.com PracticeUpdate and the PracticeUpdate Conference Series are commercially supported by advertising, sponsorship, and educational grants. Individual access to PracticeUpdate.com is free. Premium content is available to any user who registers with the site. While PracticeUpdate is a commercially-sponsored product, it maintains the highest level of academic rigour, objectivity, and fair balance associated with all Elsevier products. No editorial content is influenced in any way by commercial sponsors or content contributors. DISCLAIMER The PracticeUpdate Conference Series provides highlights of key international conferences for specialist medical professionals. The ideas and opinions expressed in this publication do not necessarily reflect those of the Publisher. Elsevier will not assume responsibility for damages, loss, or claims of any kind arising from or related to the informationcontained in thispublication, includinganyclaimsrelated to the products, drugs, or services mentioned herein. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made. Please consult the full current Product Information before prescribing any medication mentioned in this publication. Although all advertising material is expected to conform to ethical (medical) standards, inclusion in this publication does not constitute a guarantee or endorsement of the quality or value of such product or of the claims made of it by its manufacturer. The production and distribution of this publication is sponsored by Sanofi Genzyme. It contains content published in accordance with the editorial policies of Elsevier’s PracticeUpdate.com. Content was produced by Elsevier with no involvement by Sanofi Genzyme. All content printed in this publication can be found on PracticeUpdate.com SALES Fleur Gill fleur.gill@elsevier.com Matthew Buttsworth m.buttsworth@elsevier.com Linnea Mitchell-Taverner l.mitchell@elsevier.com PRODUCTION Content was originally published on PracticeUpdate.com Production of this issue was executed by: Editorial Manager A nne Neilson anne.neilson@elsevier.com Editorial Project Manager Carolyn Ng Designer Jana Sokolovskaja ISSN 2208-150X (Print) • ISSN 2208-1518 (Online)

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Contents

ICNMD 2018 • 6–10 July 2018 • Vienna, Austria BY THE PRACTICEUPDATE EDITORIAL TEAM

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2 Next-Generation Sequencing Leads to Diagnosis in About Half of Cases of Suspected Neuromuscular Disease 3 Nerve Ultrasound Improves Diagnosis of Neuromuscular Disorders 4 Low Dystrophin Protein Levels Linked to Attenuation of Duchenne Muscular Dystrophy Progression 5 IV Immune Globulin Improves Disability in Chronic Inflammatory Demyelinating Polyneuropathy 6 Ultrasonography Valuable in Confirmation of Carpal Tunnel Syndrome 6 Immune Globulins Continue to Be the Most Effective Treatment for Multifocal Motor Neuropathy 8 Family With Myotonic Dystrophy 1 Shown to Carry Interruptions Exhibiting Milder, Atypical Phenotype 9 Some Neuromuscular Diseases Linked to Malignant Hyperthermia or Similar Reactions 10 DNA Methylation, LXR/RXR Activation, and Multiple Immune Signaling Pathways Likely Play a Role in Diabetic Polyneuropathy

11 Palliative Care Can Be Integrated Into Management of Patients With ALS 12 Inherited Transthyretin-Mediated Amyloidosis: Though Diagnosis and Monitoring Are a Challenge, Treatment is Being Revolutionized 13 Late-Onset Pompe Disease Linked to Polyneuropathy 14 Significant Progress Has Been Made in Immune-Mediated Neuropathies 16 Thymectomy Continues to Be Successful for Myasthenia Gravis 16 Protein Biomarkers of Dysferlinopathy Identified 18 Next-Generation Sequencing Can Be Helpful in Diagnosing and Characterizing Limb Girdle Muscular Dystrophy 20 Transcranial Magnetic Stimulation Can Help Diagnose and Prognose Children With Sequelae of Acute Transverse Myelitis

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ICNMD 2018 • PRACTICEUPDATE CONFERENCE SERIES