What is the DMC-LAMA2

The Congenital Merosin-deficient Muscular Dystrophy (LAMA2-CMD1A) is a rare and a severe inherited disease, which belongs to the group of muscular dystrophies. It is characterized by severe progressive muscle weakness, and its symptoms appear since childhood, generally before the age of 2 years.

 

CMD1A represents between 30-40% of all congenital muscular dystrophies. Its prevalence is 1/100.000 people, and currently it does not exist a cure for it.

This disease affects musculature and creates an almost total loss of mobility. Most part of affected children are not capable of walking neither eating without assistance.

As a consequence of the muscle weakness, other problems may appear since an early age, such as progressive joint contractures, delayed or limited motor development, as well as breathing and feeding problems. Neurological development is not affected.

 

Following link is a list of videos of Cure CMD (american association of congenital muscular dystrophies) for patients with CMD Merosin Deficiency). There is a lot of useful information and witnesses in similar situations. There are videos in english, which deal with:

 

  • Current research on this disease.
  • How to take care of these patients.
  • How the overcome the periods of colds
  • How to use several devices as the cough assist, bipap, stomach button, etc.
  • Witness of patients with this disease.
  • Video on parents having to take difficult decisions on the stomach button, etc

 

You can find them at Cure’s youtube playlist

 

 

Histories of families that live with DMC-LAMA2:

 

La Petita Júlia (Barcelona)

Believe Maria Marqués (Portugal)

My Merosin Deficient Journey Eden Mae (Anglaterra)

Audrey’s All Stars (Califòrnia)

Beare it for Bella (Oregon)