A new registry has been launched for people with conditions caused by mutations in the gene for fukutin-related protein (FKRP). This includes people with the type 2I form of limb-girdle muscular dystrophy (LGMD) and the type 1C form of congenital muscular dystrophy (CMD) and, in rare instances, the congenital muscular dystrophies muscle-eye-brain disease and Walker-Warburg syndrome.
The identification of genetic mutations that underlie the many forms of congenital muscular dystrophy (CMD) has allowed scientists to begin to unlock the secrets of these diseases and to consider ways in which they might be treated.
Problems and solutions in congenital muscular dystrophies include the following:
Stiff or “frozen” joints (contractures) can be present at birth or develop as muscles weaken, but regular physical therapy designed to maintain range of motion at the joints can help combat this problem.
It isn’t known why the CMDs cause muscle weakness earlier than other types of muscular dystrophy. One possibility is that the muscle proteins affected in CMD are required early in the development of an infant’s muscle, while muscle proteins linked to other muscular dystrophies don’t become important until the muscles begin to get a lot of use as a child grows.
A diagnosis of CMD can be confusing because for many years the term was used as a “catch-all” name to describe conditions that looked like other muscular dystrophies, but started much earlier or followed different patterns of inheritance.
Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that show themselves at or near birth. Muscular dystrophies in general are genetic, degenerative diseases primarily affecting voluntary muscles.