There have been recent developments in research into the genetics of congenital muscular dystrophies, which have resulted in a better understanding of this group of conditions.
The first mutation to be discovered was in the LAMA2 (laminin alpha-2) gene, the gene which carries the information to make a protein called merosin. This form of congenital muscular dystrophy, also known as ‘merosin-deficient congenital muscular dystrophy’ affects approximately 25 percent of the children with congenital muscular dystrophy. More recently, further genes have been identified, and to date we know of at least 30 genes responsible for different forms of congenital muscular dystrophy. In the UK, the most common type of congenital muscular dystrophy is Ullrich congenital muscular dystrophy, followed by merosin-deficient congenital muscular dystrophy. There are various other less common subtypes.
Some cases of congenital muscular dystrophy have genetic causes that have not yet been identified. However, the availability of new genetic technologies has increased the probability that the genes for these conditions will be found.