Neuromuscular Disorders

During my recent 2-week rotation as attending physician on the general neurology inpatient service, I needed to consult with a neuro-oncologist, movement disorder specialist, neuro-immunologist, epileptologist, and a neurocritical care physician, all in an effort to provide optimal care to my patients. The complexities of their care reflected not only the severity of their illnesses, but also the remarkable level of understanding that the neuroscience community now has about the pathophysiologies and treatment options of so many neurological diseases. It is this exponential growth in neurology that prompted me to consult with so many different specialists. This level of complexity makes the practice of neurology so exciting, yet so challenging and demanding. So how can anyone keep pace to provide the care all patients deserve? I'm fortunate because I'm at an academic center in a department with so many able neurological subspecialists, of whom I can “curbside” whenever I need some help. But for neurologists not in my situation, the ever-accelerating pace of advancement in neurology and the seemingly ever-accelerating pace of our personal and professional lives mandate other efforts to stay up to date. With this sentiment in mind, I am thrilled to guest edit this issue of Seminars in Neurology.

In this issue, titled Neuromuscular Disorders, the authors and I have tried to focus on the practical issues of management and treatment of the many neuromuscular disorders that might be seen in neurology practice. In the first article, about chronic axonal neuropathies, Michelle Mauermann and I first present what we think is an easy-to-remember algorithm for evaluating a patient with polyneuropathy. This algorithm demands the characterization of the neuropathy by answering four simple clinical questions. Our article also includes a more in-depth look at the clinical characteristics and yield of ancillary testing for many chronic, axonal polyneuropathies. Michelle is currently completing her clinical neurophysiology fellowship at Mayo Clinic in Rochester, Minnesota. She was a peripheral nerve fellow at Mayo Clinic the year prior, and before that she was a neurology resident at my institution, the University of Virginia. As residency program director at the University of Virginia, I can confidently state that Michelle was one of the best residents we've had in years, and that's saying a lot given the caliber of our amazing residents. I'm very proud of Michelle and I look forward to watching her promising career unfold. In the second article, Guillain-Barré Syndrome (GBS), I focused my efforts on providing practical information about the clinical characteristics, pathophysiologies, natural histories, treatments, supportive care, and post-hospitalization care of GBS and its variants. In the third article, David Saperstein provides a terrific review of chronic acquired demyelinating polyneuropathies. I asked David to write this article because he's written several important articles about the classification, clinical and electrodiagnostic characteristics, and treatments of these acquired neuropathies. David has been a leader in this field for years, first at Wilford Hall in San Antonio, Texas, then as a Jayhawk at Kansas University, and now as a private practice neurologist in Phoenix, Arizona. It amazes me that David is able to juggle an active academic career while working in a very busy private practice. Agnes Jani-Acsadi, Karen Krajewski, and Michael Shy, all from Wayne State University, next provide an easy-to-understand primer on the classification, evaluation, and management of Charcot-Marie-Tooth neuropathies. These authors have done so much over the years to improve our understanding of the pathogeneses and natural histories of Charcot-Marie-Tooth neuropathies and other inherited neuropathies and so I am thrilled that they contributed to this issue of Seminars. Their work over the years has been critically important because it is only after we understand the pathogeneses and natural histories of the many different genetic mutations that we will be able to develop and test potential disease-modifying treatments. In the fifth article, Evaluation and Management of Autonomic Nervous System Disorders, Caroline Klein, from the University of North Carolina, offers a succinct and remarkably user-friendly article about a set of conditions that many of us find so challenging to diagnose and manage. Caroline's article will no doubt make it a little bit easier for us all. Catherine Lomen-Hoerth, from the University of California San Francisco, next provides a very practical, and again user-friendly, article about the evaluative approach and management of amyotrophic lateral sclerosis (ALS). In this article, Cathy provides very helpful advice on the symptomatic treatment of the many symptoms and complications of ALS.

The second half of this issue of Seminars in Neurology is comprised of articles that address disorders of the neuromuscular junction and muscle. Branavan Mahadeva, Vern Juel, and Larry Phillips have written for us an excellent overview of neuromuscular junction transmission disorders, with an emphasis on the most common of these conditions, myasthenia gravis. Larry is a colleague of mine at the University of Virginia, and Vern, a former colleague, is at Duke University. Larry and Vern have been valuable mentors for me over the last decade. Branavan is a former University of Virginia clinical neurophysiology fellow who is now in practice in Oakland, California. Branavan was one of my favorite fellows and remains a good friend. The remaining articles in this issue are about muscle disorders. The first muscle article was written by Carlayne Jackson, from the University of Texas, San Antonio. I asked Carlayne to write this article because I had heard her speak years ago on this subject and what I had learned from her lecture had been so helpful to me over the years. Carlayne's article for Seminars is excellent, offering dozens and dozens of helpful clinical pearls. The next article was written by Steve Greenberg, a good friend at Brigham and Women's Hospital who has done exciting work with Tony Amato and colleagues on the pathophysiology of the inflammatory myopathies. Steve's work over the past few years has prompted us all to reconsider the mechanisms behind some of these acquired myopathies (e.g., dermatomyositis) and has already resulted in the testing of a novel treatment. Steve's article is very practical and will be one of the many articles from this issue that I'll make mandatory reading for my residents and fellows. The next article is about inherited myopathies. It was written by Michael Cardamone, Basil Darras, and Monique Ryan. I've known Monique since her days as a clinical neurophysiology fellow at Lahey Clinic and Children's Hospital Boston. When she was in fellowship her potential was obvious to us all. Monique is now back in her home country of Australia, enjoying a terrific academic career focusing on pediatric neuromuscular disorders. During my time at Children's Hospital Boston, I also had the pleasure of working with and learning from Basil Darras, one of the nicest and most knowledgeable pediatric neuromuscular doctors around. Michael Cardamone is a talented neuroscience researcher in Victoria, Australia and is in the early phase of clinical training in pediatric neurology in Melbourne, Australia. In the penultimate article, David Saperstein gives us a practical article about the evaluation and management of the muscle ion channelopathies, a fascinating but sometimes confusing set of neuromuscular disorders. In his article, David succeeds in explaining relatively straightforward diagnostic strategies and treatment options for the nondystrophic myotonic disorders and periodic paralyses. In this issue's final offering, Andrew Tarulli provides a very well-written book review about Michael Benatar's newest book, Neuromuscular Disease: Evidence and Analysis in Clinical Neurology. Andrew is an intelligent young man from Beth Israel Deaconess in Boston who has a fine career ahead of him. In his review, Andrew explains why Michael's book is important reading for any neuromuscular specialist, in part because Michael discusses the strengths and limitations of the existing neuromuscular evidence and discusses why we need more high-quality evidence to guide our neuromuscular practices. I've gotten to know Michael quite well over the past 2 years, largely through working together on the Neurology podcast, and I can assure you he's one of our brightest and he'll have many more important things to say over the coming years.

I'd also like to thank Karen Roos for inviting me to guest edit this issue of Seminars in Neurology. Karen is one of those wonderfully supportive people in the field that makes this job even more fun and rewarding. And speaking of supportive, I'd like to also thank my wife, Bonnie, for supporting me throughout all my pursuits and also for being the ballast that keeps our family afloat, functioning, and very happy.