229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

V Straub, A Murphy, B Udd, A Corrado, S Aymé… - Neuromuscular …, 2018 - Elsevier
Historically, the classification and nomenclature of diseases has not been systematic and
diseases were either classified by cause, presenting symptoms and signs, pathological
features and organs involved, or they were named after the experts that first described them.
An improved understanding of pathomechanisms, the identification of disease genes and an
increase in the number of distinct disease entities led to nosological coding systems that are
regularly updated and revised. On the one hand, there is a real need to revisit the …