A new nomenclature for Limb Girdle Muscular Dystrophies (LGMD)
Understanding how neuromuscular diseases impact learning and working opportunities for patients and carers
The 229th ENMC international workshop, entitled ‘Limb Girdle Muscular Dystrophies – Nomenclature and reformed Classification’ took place from the 17th to the 19th of March 2017 in Naarden (The Netherlands). The meeting brought together a multidisciplinary group to reassess the nomenclature of Limb Girdle Muscular Dystrophies (LGMD). Twenty people from nine countries attended the workshop. Attendees included clinicians, experts in disease classification systems, patients with LGMD and representatives from patient organisations.
Due to advances in genetic testing, there are currently more than 30 different sub-types of LGMD. There is a wide range of clinical differences between the different sub-types, named according to a classification system introduced 22 years ago. The aim of the workshop was to revisit the definition of LGMD, and discuss and propose a new classification system for sub-types.
The workshop was focused on defining the common features of LGMDs. There was agreement that changing the names of some of the conditions was appropriate, as long as patients were clear on the need to do so. There was also agreement to continue to use the term LGMD but there must be a clear definition of what a LGMD is.
Patients and patient organisations gave their opinions on the new definition and classification. The consensus was that the new classification added clarity to the field of LGMD.
The workshop achieved the following deliverables:
- A consensus on an updated definition of LGMD. This included an evaluation of existing sub-types based on the updated definition.
- Consensus on the most useful LGMD classification system. The new system will also allow space for discovery of new sub-types.
A full lay summary of the workshop is available on the ENMC website here.
The lay summary also links to the full report published in Neuromuscular Disorders.