A new nomenclature for LGMD was developed during the 229th ENMC workshop in Naarden, The Netherlands in 2017. This was needed because the definition of LGMD needed an update and the sub-type numbering of the recessive form reached the Z (LGMD 2Z). Consensus was reached on a new classification using the letter D and R for dominant and recessive, a number assigned based on the order of discovery and the affected protein. As a result, for example, LGMD 2B is in the new system LGMD R2 dysferlin-related. The definition of LGMD related to the type of muscle wasting, the age of onset and some clinical characteristics. The results have been published in Neuromuscular Disorders (Straub et al, Volume 28, Issue 8, 2018, Pages 702–710).
For patients, these changes may have considerable consequences. Their disease has now a new name and some types of LGMD no longer are considered to be LGMD, whereas some others that were until recently regarded as different diseases now are considered LGMD-types. It is thus essential for patients to know about these changes and understand their consequences: this new classification will become the standard, and knowing the new name will facilitate contact between newly-diagnosed patients (new classification) and patients who have been diagnosed before (previous classification). It will also allow patients to follow scientific developments.
To better explain these changes to a lay audience, Madelon Kroneman, member of the PAB and Marianne de Visser, Chair of the Muscle Group, developed together a patient leaflet.
This leaflet has been spread among the members of the Muscle Group, the Patient Advisory Board, and in a LGMD patient group on Facebook.
The leaflet is currently available in English. Translations in other languages are encouraged. Please contact the PAB or Marianne de Visser if you can translate it in your own language.
We would like to take this opportunity to thank Tomas Vranovsky from the Organization of Muscular Dystrophy in the Slovak republic for making this possible.