Congenital Muscular Dystrophy (CMD)


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.

Signs and Symptoms

Hand with wrist contracture
CMD can cause contractures in the wrists, ankles and other joints.

Types of Congenital MD

At least 30 different types of CMD are now recognized (see the Types of CMD chart). At first glance, the various types of CMD seem to have little in common other than their early onset. But on the molecular level, the types can be grouped how their faulty protein affects cells.

A very small group of CMDs are linked to proteins that affect what happens inside muscle fibers, affecting how the fibers process signals from the nervous system, for example, or how they handle calcium.


infant weakness in CMD
Babies with congenital muscular dystrophy are weak at birth and may have breathing or swallowing difficulties. Nowadays, better supportive care has improved survival, and clinical trials of disease-modifying treatments are not far away.

Congenital Muscular Dystrophy


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.

Research Briefs: Stem Cells

Stem cells are a hot topic these days in medicine, science and law, although the term has multiple meanings and it's easy to get confused.

In short, stem cells are cells at an early stage of development from which specialized cells, such as muscle or nerve cells, can develop (in other words, from which these specialized cells "stem").

Different kinds of stem cells are referred to as:

Researchers Exploring Disability Perceptions

Researchers at the Psychology of Disability Lab at the University of Michigan in Ann Arbor are exploring the social identity of people with disabilities through a short, anonymous, Web-based questionnaire.

The lab's Disability Identity Project is being headed by principal investigator Adena Rottenstein, a doctoral candidate in psychology.

The study closes the week of Aug. 22, 2011.

MDA Conference Brings Together Researchers, Clinicians, Industry

Moving therapeutic strategies from the laboratory to clinical trials and ultimately to the market as treatments was the theme of the MDA National Scientific Conference held March 13-16, 2011, in Las Vegas.

Some 300 people attended the conference, the first in a planned series of such MDA-sponsored meetings that will emphasize new research and current medical care. The majority of presenters and many of the audience members were current or former MDA research grantees or physicians at MDA-supported clinics.