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

Type of publication: Workshop report
Disease: Limb girdle muscular dystrophy, Limb girdle muscular dystrophy 2i, Limb girdle muscular dystrophy 2k, Limb girdle muscular dystrophy 2m, Limb girdle muscular dystrophy 2n, Limb girdle muscular dystrophy 2o

Authors:

Straub V, Murphy A, Udd B; LGMD workshop study group.


Highlights

– A consensus was reached on an updated definition of LGMD, and current sub-types were evaluated by application of the updated definition.
– Consensus was reached on the most useful LGMD classification system that also allowed space for further discoveries of new sub-types.
– Potential ramifications of the new definition and classification of LGMD for patients were discussed and several action points around how to disseminate this proposal were identified.
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 nomenclature and classification systems of diseases and to update them according to new findings and coding standards; on the other hand, a change in disease names can be confusing for healthcare professionals and affected patients.


Published: 24 May 2018
Journal: Neuromuscular Disorders, volume 28, issue 8, pages 702-710

Link: doi.org/10.1016/j.nmd.2018.05.007

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