MDC1A / Lama2 CMD is a very rare, congenital muscle disease affecting patients worldwide. Extensive research is needed to develop a cure. On this website we inform you about the patient organisations that fight for research and the various scientific studies that are ongoing. Together we fight for a treatment and a healthier future. Join the cause, stay informed, or donate.
Babies and children suffering from MDC1A / Lama2 CMD have difficulty walking and breathing due to muscle weakness. Among these symptoms, patients generally suffer from a lower quality of life. The disease is caused by rare mutations in LAMA2, a gene responsible for the protein that holds muscles together.
Although symptoms can be reduced with physiotherapy, currently there is no cure due to its rare nature and limited research opportunities.
Limb Girdle Dystrophy, MDC1A and Lama2 CMD. What is the difference between the names for the same muscle disease? In the past there was no DNA research and the features that could be seen under the microscope were only described later. Therefore, in the past, MDC1A was often referred to on the basis of the…
In the weekend from Friday the 15th to Sunday the 17th of November in 2019, we held the first international conference on the rare, inheritable muscular dystrophy MDC1A (Merosin Deficient Congenital muscular dystrophy type 1a). The Friday and Sunday of the conference were only accessible to experts. On Saturday the 16th patients, their parents and…
One of the specialists who will attend the conference is dr. Dwi Kemaladewi. Together with an international team of scientists led by dr. Ronald Cohn, President and CEO, Senior Scientist, Paediatrician and Geneticist at SickKids hospital in Toronto she applied a modified version of the CRISPR gene-editing tool in a way that may eventually open…
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