- Limb girdle muscular dystrophies (LGMD) are a group of rare genetic disorders characterized by slowly progressive weakness leading to variable degrees of disability ranging from mild problems in daily living to complete dependence on the help of others. In some cases, involvement of cardiac and respiratory muscles further complicates the clinical situation of patients. Based on the most recent classification, there are 32 genes reported to cause LGMD . Although some of these gene/disease associations were described more than 20 years ago, there is still more to be learned about the disease progression of different subtypes and a better understanding of their natural history is needed.
- On the 15–17 of November 2019, 20 experts (clinicians and scientists) from 9 countries gathered in Maastricht, The Netherlands, to discuss the natural history, trial readiness and potential treatment strategies for patients suffering from LAMA2-related muscular dystrophy (LAMA2-MD), the congenital form being known as merosin deficient congenital muscular dystrophy type 1A (MDC1A). The conference was an initiative of the foundation “Voor Sara”, a Dutch patient organisation for MDC1A, and Maastricht University, who joined forces in 2018 in order to find a treatment for MDC1A.