Ullrich Congenital Muscular Dystrophy

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:

Contractures

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.

What causes congenital muscular dystrophy (CMD)?

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.

• CMD with rigid spine syndrome
• Fukuyama CMD (FCMD)
• Integrin-deficient CMD
• Merosin-deficient CMD

What is congenital muscular dystrophy (CMD)?

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.