What is the DMC-LAMA2

The Congenital Merosin-Deficient Muscular Dystrophy is an inherited disease, very rare and serious, which is classified among Muscular Dystrophy diseases. Their main feature is the muscular weakness since the childhood, generally before being 2 years old.

 

The LAMA2-CMD constitute between 30-40% of the congenital muscular dystrophies with a frequency of 1/30.000.

 

Children with a total deficiency of merosin present hypotonia (decreased muscle strength and floppiness), progressive joint contractures, delayed or limited motor development and breathing and feeding problems since very young. They can also develop scoliosis and rigid spinal column.  In some cases they have heart abnormalities

 

People with a partial deficiency of merosin, can last more time to present these features (end of the childhood, beginning of the adult age) and symptoms are not so clear. In both cases, brain development is normal.

 

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 (England)

Audrey’s All Stars (California)

Beare it for Bella (Oregon)