Neuromuscular diseases in children: a practical approach

This issue of Pediatric Anesthesia contains reviews of the most recent knowledge in the clinical and anesthetic management of pediatric patients with several different neuromuscular disorders as well as essays on related clinical topics. Many neuromuscular disorders are rare inherited conditions. Usually, these are diagnosed during infancy, childhood, or adolescence. The goal of basing clinical practice on objective evidence is difficult to attain in the case of rare conditions, because it is difficult to collect data in an unbiased fashion from a large number of patients. However, secure web-based portals have been developed, which allow patients to enter their own medical history and choose the level of confidentiality that they wish to maintain regarding their interaction with investigators. Genetic Alliance (www.geneticalliance.org, 7 July, 2013) has an example of this. When patients and their families choose to participate in such registries, research in their rare condition is accelerated. For example, the National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy has acquired 1611 members and facilitated 24 studies of these rare disorders in 8 years (1). There are efforts to make such registries international in scope. Language may appear to be a barrier, but as modern information technology becomes more widely accepted and available, worldwide participation can become a reality. Concerns of anesthesiologists caring for a patient with a rare disease may not be addressed by registries developed by other medical professionals or patient-driven groups. The OrphanAnaesthesia project aims to address this issue through a portal that has been accessed daily by 20 000 people using six European languages (2). OrphanAnaesthesia provides short reports in a standardized format, peer-reviewed by anesthesiologists (www. orphananesthesia.eu, 7 July, 2013). This results from strategy developed during the past 10 years at national and European Union levels to support improvement in care for those with rare diseases. (www.eucerd.eu, 7 July, 2013). This work was begun as Orphanet in France in 1997, with government support. Anesthesia is often administered to pediatric patients who have signs or symptoms suggestive of neuromuscular disease, but no diagnosis. Thus, two different clinical situations are presented to the anesthesiologist: 1 Consider the possibility of significant muscle disease due to the presence of some signs or symptoms in an apparently healthy ASA 1 or 2 patient. 2 Consider the care of a child with a known or suspected muscle disease.