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.
MDA leads the search for treatments and therapies for congenital muscular dystrophy (CMD). The Association also provides comprehensive supports and expert clinical care for those living with CMD.
In this section, you’ll find up-to-date information about congenital muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.
Editor's note: This article was updated on Jan. 6, 2011, to include a direct, free link to the Journal of Child Neurology article about the CMD guidelines.
A panel of 82 international experts — including several MDA grantees and clinic directors — has produced the first-ever care guidelines for the congenital muscular dystrophies (CMD), a group of genetic neuromuscular disorders that have their onset at birth or in early infancy.