Diagnosing Neuromuscular Diseases

Abstract

The field of neuromuscular diseases (NMD) has evolved at an unprecedented speed over the last two decades. Due to advances in molecular genetics, the number of identifiably different diseases has increased and a higher level of complexity has become apparent. Undoubtedly, the dizzying evolution in genetic knowledge has had a profound impact on this area of medicine. Indeed, the impact of genetics has generated a new classification that is often contrary to classical clinical definitions in many diseases. The gene table of NMD in its online form (http://musclegenetable.fr), prepared by Jean Claude Kaplan and published every year, classifies NMD into 16 groups, lists 884 diseases involving 492 genes and as many proteins, and includes 71 loci that await identification of the corresponding genes.1 At the time of writing this article, the 2017 version of this table included 840 genes and 465 diseases and proteins; these numbers give an idea of the growing knowledge in this field. At present, a variety of diagnostic tools can be used in NMD but it is the physician who must wisely select which is the most useful in each case and for each individual patient. To do this, the physician must know exactly what type of information each of the examinations can provide.

Keywords

• Clinical
• diagnosis
• neuromuscular