Continuum: Lifelong Learning in Neurology—Muscle and Neuromuscular Junction

Disorders, Volume 22, Issue 6, December 2016

Issue Overview

Muscle and Neuromuscular Junction Disorders December 2016;22(6)

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Continuum: Lifelong Learning in Neurology® is designed to help practicing neurologists stay

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abreast of advances in the field while simultaneously developing lifelong self-directed learning

skills.

Learning Objectives
Upon completion of this Continuum: Lifelong Learning in Neurology Muscle and

Neuromuscular Junction Disorders issue, participants will be able to:

 Utilize electrodiagnostic tests in the assessment of patients with suspected muscle

disease, describe the uses of imaging to distinguish different forms of muscle disease and

exclude mimics, and recognize the various indications for muscle biopsy

 Demonstrate a focused approach to the clinical assessment and investigation of the

patient with hyperCKemia by considering common etiologies, including those that are

potentially life limiting or may change management

 Recognize and describe the clinical features and management of endocrine myopathies

and of myopathies due to medications or other toxins

 Develop a diagnostic and treatment algorithm for the metabolic myopathies

 Diagnose and treat different subtypes of autoimmune myopathy

 Recognize the clinical features and discuss the pathogenesis of inclusion body myositis

 Diagnose and manage the dystrophic and nondystrophic myotonias

 Diagnose and manage patients with facioscapulohumeral muscular dystrophy

 Recognize the key features and classification of congenital myopathies, understand recent

advances in molecular genetics and the use of muscle imaging for the diagnosis of

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

 congenital myopathies, and develop a multidisciplinary approach to the treatment of

congenital myopathies

 Recognize the phenotypic presentation and approach to the evaluation of the various

limb-girdle muscular dystrophies

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 Describe the neurophysiology of neuromuscular transmission and the pathophysiology of

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its disorders, and diagnose and manage acquired disorders of neuromuscular

transmission, including autoimmune myasthenia gravis and the Lambert-Eaton

myasthenic syndrome

 Apply ethical principles in providing genetic counseling for asymptomatic individuals at

risk for progressive neuromuscular disorders

 Recognize the strengths and limitations of patient registries while reviewing strategies to

discuss patient registries with patients

Core Competencies
This Continuum: Lifelong Learning in Neurology Muscle and Neuromuscular Junction Disorders
issue covers the following core competencies:
 Patient Care and Procedural Skills
 Medical Knowledge
 Practice-Based Learning and Improvement
 Interpersonal and Communication Skills
 Professionalism
 Systems-Based Practice

Disclosures
CONTRIBUTORS

Hannah R. Briemberg, MD, FRCPC, Guest Editor

Clinical Associate Professor of Neurology, University of British Columbia, Vancouver, British
Columbia, Canada
a
Dr Briemberg serves on the editorial board of Continuum and has received personal
compensation for serving as a consultant for Novartis AG and also has received publishing
royalties from BMJ Publishing Group Ltd and UpToDate, Inc. Dr Briemberg has received

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

 research support related to the Canadian Neuromuscular Disease National Registry from the
University of Calgary and has received research/grant support as medical director of the
amyotrophic lateral sclerosis clinic from the Amyotrophic Lateral Sclerosis Society of British
Columbia.
b
Dr Briemberg discusses the unlabeled/investigational use of immunosuppressive medications
for the treatment of autoimmune myositis.
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Anthony A. Amato, MD, FAAN

Vice Chairman, Department of Neurology, Brigham and Women’s Hospital; Chief,
Neuromuscular Division, Brigham and Women’s Hospital; Professor of Neurology, Harvard
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Medical School, Boston, Massachusetts

a
Dr Amato has received personal compensation for serving on the medical advisory board of and
as a consultant for Akashi Therapeutics, CSL Behring, and Novartis AG and for serving
as associate editor of Muscle & Nerve and Neurology. Dr Amato has received research/grant
support as site principal investigator for Alexion Pharmaceuticals, Inc; the National Institutes
of Health; and Novartis AG; has received publishing royalties from UpToDate, Inc; and has
provided expert witness testimony related to a wrongful diagnosis legal case.
b
Dr Amato reports no disclosure.

Steven A. Greenberg, MD
Associate Professor of Neurology, Brigham and Women’s Hospital and Children’s Hospital;
Associate Professor of Neurology, Harvard Medical School, Boston, Massachusetts
a
Dr Greenberg has served as a consultant for Acceleron Pharma and Novartis AG and receives
research/grant support from the Inclusion Body Myositis Foundation, Inc and Pfizer Inc. Dr
Greenberg receives licensing fees from MedImmune and publishing royalties from UpToDate,
Inc.
b
Dr Greenberg reports no disclosure.

Stanley Jones P. Iyadurai, MSc, PhD, MD

Assistant Professor of Neurology and Neuromuscular Medicine, Ohio State University,
Columbus, Ohio
a
Dr Iyadurai has received personal compensation for serving on the advisory boards for
Allergan; Alnylam Pharmaceuticals, Inc; CSL Behring; and Pfizer, Inc.
b
Dr Iyadurai discusses the unlabeled/investigational use of corticosteroids to treat Duchenne
muscular dystrophy.

Lyell K. Jones Jr, MD, FAAN

Associate Professor of Neurology; Neurology Residency Program Director, Department of
Neurology, Mayo Clinic, Rochester, Minnesota
a
Dr Jones has received publishing royalties from the Mayo Clinic Neurology Board Review.
b
Dr Jones reports no disclosure.

Jeffrey T. Joseph, MD, PhD

Professor, Neuropathology Group Director, Department of Pathology and Laboratory Medicine,
Calgary Laboratory Services; Donald Burns and Louise Berlin Professorship in Dementia
Research, Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada
a
Dr Joseph has received research/grant support from the Endowed Chair of the University of
Calgary to create the brain tissue bank and receives publishing royalties from UpToDate, Inc
and Wolters Kluwer. Dr Joseph also gave expert testimony for Alberta Justice, for which he did
not receive compensation.
b
Dr Joseph reports no disclosure.

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

 Charles D. Kassardjian, MD
Neurologist, Saint Michael’s Hospital; Lecturer, University of Toronto, Toronto, Ontario,
Canada
a
Dr Kassardjian has received honoraria for grand rounds lectures for Sanofi Genzyme.
b
Dr Kassardjian reports no disclosure.

Hans D. Katzberg, MD
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Associate Professor of Medicine, University of Toronto, Toronto, Ontario, Canada

a
Dr Katzberg has received personal compensation for serving as a consultant for Flex Pharma
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and Octapharma AG, for serving as a speaker and a consultant for Sanofi Genzyme,and for
serving on the advisory board of and as a consultant and a speaker for CSL Behring and Grifols.
Dr Katzberg has received research grants from CSL Behring, Grifols,and Muscular Dystrophy
Canada.
b
Dr Katzberg reports no disclosure.

John T. Kissel, MD, FAAN

Chair, Department of Neurology, Pediatrics, and Neuroscience, Ohio State University Wexner
Medical Center, Columbus, Ohio
a
Dr Kissel has received personal compensation for serving on a consulting board of AveXis, Inc;
as journal editor of Muscle & Nerve; and as a consultant for Novartis AG. Dr Kissel has
received research/grant funding as principal investigator of a study from the National Institutes
of Health and has received funding for clinical trials from AveXis, Inc; AxelaCare Health
solutions, LLC; BioMarin; CSL Behring; Cytokinetics, Inc; Ionis Pharmaceuticals; and
Quintiles, Inc; and receives publishing royalties from Oxford University Press.
b
Dr Kissel discusses the unlabeled/investigational use of corticosteroids to treat Duchenne
muscular dystrophy.

Jean K. Mah, MD, MSc, FRCPC

Associate Professor, Departments of Pediatrics and Clinical Neuroscience, Alberta Children’s
Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary,
Alberta, Canada
a
Dr Mah has received personal compensation as a consultant for aTyr Pharma and PTC
Therapeutics and has received research/grant support as study and site investigator for Alberta
Children’s Hospital, Bristol-Myers Squibb, Children’s Hospital of Eastern Ontario, Cooperative
International Neuromuscular Research Group, Eli Lilly and Company, FSHD Global Research
Foundation, FSH Society, the Hospital for Sick Children, Muscular Dystrophy Canada, Novartis
AG, Pfizer Inc, PTC Therapeutics, and Sanofi Genzyme.
b
Dr Mah reports no disclosure.

Andrew L. Mammen, MD, PhD

Investigator, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National
Institutes of Health, Bethesda, Maryland; Adjunct Professor of Neurology and Medicine, Johns
Hopkins University School of Medicine, Baltimore, Maryland
a
Dr Mammen receives intramural research funding from the National Institutes of Health.
b
Dr Mammen discusses the unlabeled/investigational use of azathioprine, cyclophosphamide,
cyclosporine, IV immunoglobulin, methotrexate, methylprednisolone, mycophenolate mofetil,
prednisone, rituximab, and tacrolimus for the treatment of autoimmune myopathies.

John P. Ney, MD, MPH

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

 Assistant Professor of Neurology, Boston University School of Medicine, Boston,
Massachusetts; Adjunct Faculty, Health Policy and Management, School of Public Health,
Indiana University, Indianapolis, Indiana
a
Dr Ney has received personal compensation as an editorial board member of Neurology and as
a consultant for Alliance Life Sciences Consulting Group Inc, AxelaCare, and SpecialtyCare,
and has also given expert medical testimony in a court deposition. Dr Ney is a current employee
of the United States government, and this manuscript was not a term of his employment nor did
he receive any compensation for the manuscript.
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b
Dr Ney reports no disclosure.
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Michael W. Nicolle, MD
Director, Myasthenia Gravis Clinic; Chief, Division of Neurology, Department of Clinical
Neurological Sciences; Director, EMG Laboratory and Neuromuscular Group, Schulich School
of Medicine and Dentistry, Western University, London, Ontario, Canada
a
Dr Nicolle has given expert medical testimony in court cases for the Canadian Medical
Protective Association.
b
Dr Nicolle discusses the unlabeled/investigational use of azathioprine, mycophenolate mofetil,
and rituximab for the treatment of myasthenia gravis and Lambert-Eaton myasthenic syndrome
and the use of 3,4-diaminopyridine for the treatment of Lambert-Eaton myasthenic syndrome.

Laura K. Rosow, MD
Associate Director, ALS Center; Assistant Professor of Neurology, University of California San
Francisco, San Francisco, California
a,b
Dr Rosow reports no disclosures.

Valeria A. Sansone, MD
Clinical Director, Centro Clinico Nemo; Faculty, Neurology Department, University of Milan,
Milan, Italy
a
Dr Sansone has received research support from Telethon (Unione Italiana Lotta alla Distrofia
Musculare [UILDM] grant GUP15004).
b
Dr Sansone discusses the unlabeled/investigational use of clomipramine, flecainide, mipramine,
mexiletine, and tocainide for the treatment of myotonia; acetazolamide and dichlorphenamide
for the treatment of periodic paralysis; creatinine and tricyclic antidepressants for the treatment
of muscle pain; and modafinil for the treatment of fatigue in myotonic dystrophy.

Anant M. Shenoy, MD
Assistant Professor of Neurology, Tufts University School of Medicine, Boston, Massachusetts;
Attending in Neurology, Baystate Health, Springfield, Massachusetts
a,b
Dr Shenoy reports no disclosures.

Zachary Simmons, MD, FAAN

Professor of Neurology and Humanities, Pennsylvania State Milton S. Hershey Medical Center,
Pennsylvania State University, Hershey, Pennsylvania
a
Dr Simmons serves on the editorial board of Amyotrophic Lateral Sclerosis and Frontotemporal
Degeneration and has received personal compensation as senior associate editor of Muscle &
Nerve and for serving as a consultant for the ALS Association Greater Philadelphia Chapter;
Cytokinetics, Inc; and Neuralstem, Inc. Dr Simmons has received research grant support from
the ALS Association; Biogen; Cytokinetics, Inc;and Sanofi Genzyme.
b
Dr Simmons reports no disclosure.

Jeffrey M. Statland, MD
Assistant Professor of Neurology, University of Kansas Medical Center, Kansas City, Kansas

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

 a
Dr Statland received personal compensation for serving on the advisory boards of Bristol-
Myers Squibb and Sarepta Therapeutics and for serving as a consultant for Acceleron Pharma,
Clinical Leader, and Novartis AG. Dr Statland has received research/grant support from the
FSH Society and the National Center for Advancing Translational Sciences through the Clinical
and Translational Science Award (KL2TR000119) and the Multi-institution Clinical and
Translational Science Award.
b
Dr Statland reports no disclosure.
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Mark A. Tarnopolsky, MD, PhD

Professor of Pediatrics and Medicine, Division of Neuromuscular and Neurometabolic Disorders,
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McMaster University, Hamilton, Ontario, Canada

a
Dr Tarnopolsky has received personal compensation as a speaker and consultant for Sanofi
Genzyme and has received research funding from the Canadian Institutes of Health Research,
Exerkine Corporation, and MitoCanada. Dr Tarnopolsky is also a shareholder and stockholder
for Exerkine Corporation.
b
Dr Tarnopolsky discusses the unlabeled/investigational use of triheptanoin, which is under
license and investigation by Ultragenyx Pharmaceutical, Inc, to treat fatty acid oxidation
defects.

Rabi Tawil, MD, FAAN

Professor of Neurology, Pathology and Laboratory Medicine, University of Rochester Medical
Center, Rochester, New York
a
Dr Tawil has received personal compensation as a consultant for Acceleron Pharma; aTyr
Pharma; Novartis AG; and Third Rock Ventures, LLC and has received research/grant support
as co-investigator of studies for the National Institutes of Health (U01 NS061795-04,
1U54AR065139, 1P01 NS069539) and as investigator of studies for the FSH Society and
Northwest Friends of FSH Research. Dr Tawil receives publishing royalties from Wiley-
Blackwell.
b
Dr Tawil reports no disclosure.

Shannon L. Venance, MD, PhD, FRCPC

Associate Professor, Western University, Department of Clinical Neurological Sciences,
Schulich School of Medicine and Dentistry, London, Ontario, Canada
a
Dr Venance has received personal compensation for serving on the speaker’s bureau of and
giving lectures related to muscle disease CME for Sanofi Genzyme Canada and has received
publishing royalties from John Wiley & Sons, Inc.
b
Dr Venance reports no disclosure.

Ronnie Bergen, MD
Assistant Professor of Clinical Neurology, University of Arizona; Staff Neurologist, Southern
Arizona Veterans Affairs Health Care System, Tucson, Arizona
a,b
Dr Bergen reports no disclosure.

Douglas J. Gelb, MD, PhD, FAAN

Professor of Neurology, University of Michigan, Ann Arbor, Michigan
a
Dr Gelb receives royalties from Oxford University Press and UpToDate, Inc.
b
Dr Gelb reports no disclosure.

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.

 Methods of Participation and Instructions for Use

Continuum: Lifelong Learning in Neurology® is designed to help practicing neurologists stay

abreast of advances in the field while simultaneously developing lifelong self-directed learning

skills. In Continuum, the process of absorbing, integrating, and applying the material presented is
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as important as, if not more important than, the material itself.

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The goals of Continuum include disseminating up-to-date information to the practicing

neurologist in a lively, interactive format; fostering self-assessment and lifelong study skills;

encouraging critical thinking; and, in the final analysis, strengthening and improving patient

care.

Each Continuum issue is prepared by distinguished faculty who are acknowledged leaders in

their respective fields. Six issues are published annually and are composed of review articles,

case-based discussions on ethical and practice issues related to the issue topic, coding

information, , and comprehensive CME and self-assessment offerings, including a self-

assessment pretest, multiple-choice questions with preferred responses, and a patient

management problem. For detailed instructions regarding Continuum CME and self-assessment

activities, visit aan.com/continuum/cme.

The review articles emphasize clinical issues emerging in the field in recent years. Case reports

and vignettes are used liberally, as are tables and illustrations. Video material relating to the

issue topic accompanies issues when applicable.

The text can be reviewed and digested most effectively by establishing a regular schedule of

study in the office or at home, either alone or in an interactive group. If subscribers use such

regular and perhaps new study habits, Continuum’s goal of establishing lifelong learning patterns

can be met.

Copyright © American Academy of Neurology. Unauthorized reproduction of this article is prohibited.