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Putting Some Muscle into Continuum

doi: 10.1212/01.CON.0000440657.95932.d0
Editor's Preface

In this issue, Dr Jackson and her team of muscle disease experts guide us through their approaches to the classification, pathophysiology, and contemporary diagnosis and management of the diverse disorders of skeletal muscle that can occur throughout the lifespan.

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This issue of CONTINUUM is especially significant to me since it is the first issue that I was involved in from its conception. In fact, one of my first orders of business when I was named editor-in-chief was not only to devote my “first” complete issue to muscle disease, a topic I felt was overdue for our readers, but also to make “muscle disease” its own core topic-one of 15 core topics to be covered within every 3-year publication cycle-unbundled from the other peripheral nervous system disorders. My next order of business was to ask Dr Carlayne Jackson if she would honor us by guest editing this long-awaited issue, and I was delighted when she accepted. In this issue of CONTINUUM, Dr Jackson and her team of muscle disease experts guide us through their approaches to the classification, pathophysiology, and contemporary diagnosis and management of the diverse disorders of skeletal muscle that can occur throughout the lifespan.

The issue begins with a discussion by Drs Susan Iannaccone and Diana Castro on the congenital muscular dystrophies and congenital myopathies. In their thorough review, these experts clarify the distinctions between these two major, but rare, categories of disease and carefully delineate, for specific diseases in these categories, their clinical and diagnostic features and the complications that need to be monitored and addressed. Next, Dr Matthew Wicklund provides a remarkably comprehensive, yet easily accessible, review of the muscular dystrophies. His extensive review of both the common and the less common muscular dystrophies-and their clinical and most current diagnostic and management approaches-will be rewarding to all readers in better understanding and using the most up-to-date information in the evaluation and care of these patients. In the next article, Dr Alejandro Tobon addresses the many myopathies that occur as a consequenceof inborn metabolic errors. This encyclopedic review of a complicated topic successfully provides a very comprehensible discussion of the clinical and genetic features, diagnostic assessment, and management ofthese disorders (including enzyme replacement therapy for acid maltase deficiency). Drs Jeffrey Statland and Richard Barohn next discuss the nondystrophic myotonias and the periodic paralyses, syndromes that are due to disorders of various ion channels. These authors provide real clarity to the pathophysiologic, clinical, and diagnostic features that distinguish these disorders that will greatly assist us in our diagnosis and care of these patients.

Drs Anthony Amato and Steven Greenberg next review the inflammatory myopathies. In addition to reviewing the clinical signs and symptoms, laboratory features, and biopsy findings of these syndromes, these authors provide us with significant details of their approaches to the management of these disorders so that all of our patients can benefit from their expertrecommendations. In the next article, Dr Andrew Mammen discusses the toxic myopathies. In his thorough review of the many medications that can cause myopathy, the author includes a state-of-the-art discussion of the typical self-limited statin-associated myopathy in addition to the more recently recognized (and severe) syndrome of statin-triggered autoimmune necrotizing myopathy.

Next, Physical Therapist Wendy King and Dr John Kissel review the multimodal approach to the management of patients with muscle diseases. Recognizing that, with few exceptions, specific medical therapies are not available to alter the natural history of most myopathies, these authors provide a well-rounded expert discussion of the multidisciplinary care that patients with muscle diseases require to enhance their quality of life. Finally, Drs Carlayne Jackson and Richard Barohn tie much of the information presented in this volume together by presenting their tried and true pattern-recognition diagnostic approach to patients with muscle disease. All clinicians will be rewarded by carefully reading these experts’ stepwise and logical approach to the assessment of myopathies and by continuing to refer back to this article to use this approach when evaluating patients with muscle disease.

In this issue’s Ethical Perspectives article, Dr Peter Kang presents the theoretical case of a 5-year-old boy with Duchenne muscular dystrophy whose parents are grappling with the decision of whether to enroll him in a gene therapy trial; Dr Kang provides a thoughtful analysis of the ethical considerations involved in this decision as well as the physician’s own advice regarding such trial participation. In this issue’s Practice section, Drs Amparo Gutierrez and John England carefully review the many practical considerations involved in the initiation, administration, and monitoring of the use of glucocorticoids in boys with Duchenne muscular dystrophy. Finally, Dr Bruce Cohen presents three illustrative cases that provide the foundation for a cogent and helpful discussion and analysis of the coding issues (particularly the appropriate use of evaluation and management codes) relevant to these neuromuscular visits.

As with every issue of CONTINUUM, a number of opportunities exist for CME. Reading the material, answering the Multiple-Choice Questions crafted by Drs Douglas Gelb and Joseph Safdieh, and reviewing the subsequent discussions will assess and enhance your knowledge of the material, and you will be able to earn up to 10 AMA PRA Category 1 CME Credits™. An alternative opportunity allows you to obtain up to 12 AMA PRA Category 1 CME Credits specifically approved by the American Board of Psychiatry and Neurology (ABPN) for self-assessment by completing and submitting the Self-Assessment Pretest before reading the material and completing the postreading Multiple-Choice Questions. The Patient Management Problem, written by Dr Jeffrey Rosenfeld, describes the case of a 63-year-old woman who presents with 35 years of progressive weakness in her lower and upper extremities. By following this carefully constructed case example and answering the multiple-choice questions corresponding to important diagnostic and counseling issues related to her disorder, you will have the opportunity to earn up to 2 AMA PRA Category 1 CME Credits.

This issue also marks some changes of the guard on the editorial team. Associate Editor for Ethics Dr Michael Williams, who has been responsible for the Ethical Perspectives section since its inception in April 2006, and Dr Larry Goldstein, who has spearheaded the Practice section for the past 5 years, will be passing their batons to Dr Daniel Larriviere and Dr Anna Hohler, respectively, after this issue. I would like to sincerely thank Drs Williams and Goldstein for their tremendous hard work and vision in creating and sustaining these thought-provoking, educational, and insightful sections within each issue of CONTINUUM.

Finally, I would like to welcome Marketa Marvanova, PharmD, who has filled an important and newly created role on our editorial team as consultant pharmacist. She will provide an extra level of pharmacologic quality control, especially with regard to providing an expert review of medication dosages prior to publication of each issue.

I would like to thank Dr Jackson and her strong team of muscle disease experts for providing such a comprehensive and up-to-date review to help us diagnose and manage our patients with muscle diseases.

-Steven L. Lewis, MD, FAAN


© 2013 American Academy of Neurology