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…
Dr. Avencia Sanchez-Mejías has been investigating how haematopoietic stem cells from MDC1A patients’ bone marrow, can be genetically corrected to potentially improve quality of life. Dr. Avencia Sanchez-Mejías and her research team at the University of Pompeu Fabra in Barcelona have carried out a number of investigations focused on an ex-vivo therapeutic approach to MDC1A.…
As a respiratory therapist and an innovator, Ruud van der Wel has been able to develop amazing tools that can transform respiratory therapy into interactive games for children with MDC1A / Lama2 CMD. Ruud van der Wel is a Dutch respiratory therapist at Rijndam Rehabilitation Institute that has been working with children with disabilities for…
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