Muscular Dystrophies: A Way Forward

Abstract

Muscular dystrophy was selected as the topic for the Ninth Neurobiology of Disease in Children Symposium, which was held October 13, 2009 in Louisville, Kentucky. Program Directors Dr Richard T. Moxley and Dr Jeff Chamberlain prepared an outstanding agenda that included a panel of the most highly respected leaders in the field of muscular dystrophy. The most common form of muscular dystrophy, Duchenne muscular dystrophy, affects more than 400 boys per year born in the United States. There is a wide diversity of other muscular dystrophies and Dr Francesco Muntoni discussed how better understanding mechanisms of disease was changing clinical classification to align with fundamental mutations. For example, collagen VI deficiency can cause Ullrich congenital muscular dystrophy or Bethlem myopathy. Dr Kathryn Wagner discussed how understanding molecular mechanisms in Duchenne muscular dystrophy, myotonic dystrophy, and fascioscapulohumeral muscular dystrophy has created new ‘‘drugable targets’’ to improve life expectancy and quality of life. Dr Katherine Mathews discussed a large population-based surveillance study that aims to identify every patient with Duchenne/Becker dystrophy born after 1982. Of note, once parents consult their primary care physician, only about one third ordered testing of serum creatine kinase levels. Dr Katherine Bushby reviewed care guidelines that appeared in the January and February 2010 issues of Lancet Neurology, and she urged dissemination and implementation. Dr Richard T. Moxley discussed long-term corticosteroid therapy showing that corticosteroid use: (1) prolongs walking by 2 to 5 years; (2) reduces the need for spinal stabilization surgery; (3) improves cardiopulmonary function; (4) delays the need for noninvasive nasal ventilation; and (5) increases survival and quality of life. Dr Michael Sussman also discussed the favorable effects of corticosteroids on orthopedic management, as well as an emerging problem with vertebral compression fractures. Dr Shree Pandya reviewed how interdisciplinary care promotes adaptation and optimizes rehabilitation. Dr David Birnkrant discussed respiratory care and monitoring. Dr Jeff Chamberlain, Dr Terrence Partridge, Dr Richard Finkel, and Dr Robert Leshner discussed exciting emerging therapies. Finally, a panel discussion moderated by Dr Valerie Cwik of the Muscular Dystrophy Association addressed future directions including emphasis on: (1) improving early diagnosis by primary care physicians; (2) development of a neonatal diagnostic test; (3) quality of life in clinical trials; and (4) developing less intensive study designs for older less mobile populations. The paper by Babcock et al, in this issue, provides a detailed review of each session as well as the valuable verbatim transcript of question and answer sessions. In addition, several other manuscripts provide valuable insights into the diagnosis and management of muscular dystrophy. After the daylong conference, a series of video podcasts was recorded and uploaded to the conference website. These podcasts are outstanding up-to-the-minute updates in the field as well as a vision of future work to move the field forward. I wish to express my sincere appreciation to the National Institute of Neurobiological Disorders and Stroke, the National Institutes of Health Office of Rare Disease, the Child Neurology Society, and the Muscular Dystrophy Association for cosponsoring the conference and the Young Investigator Program that hosted 20 talented trainees and junior faculty with career interests in pediatric neurosciences and neuromuscular disease. I thank Dr Lin Mei of the Medical College of Georgia for inspiring the young investigators, and Dr Story Landis for her unwavering support of the Neurobiology of Disease in Children Symposium series. I am grateful for the wisdom and guidance of symposium directors Dr Moxley and Dr Chamberlain as well as for Dr John Porter’s insights. I am humbled every year by the remarkable support of the Neurobiology of Disease in Children Conferences by members of the Child Neurology Society. Cerebrovascular disease has been selected as the topic for the tenth Neurobiology of Disease in Children Symposium, which will be held October 13, 2010, in Providence, Rhode Island. Program Directors Dr Donna Ferriero, Dr Gabrielle DeVeber, Dr Steve Roach, and Dr Zinaida Vexler have prepared a terrific agenda that promises to meet or exceed expectations of loyal child neurology attendees as well as a new batch of young investigators orienting to our field. We look forward to seeing you in the historic city of Providence, Rhode Island.