Congenital Muscular Dystrophy (CMD)

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.

Overview

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

Description: 

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.

MDA Awards $13.5 Million in Research Grants

The Muscular Dystrophy Association has awarded 44 grants totaling $13.5 million to support research efforts aimed at advancing understanding of disease processes and uncovering new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association’s program.

The new grants were reviewed by MDA’s Scientific and Medical Advisory Committees, and approved by MDA’s Board of Directors at its December meeting.

Muscle Disease Quality-of-Life Study Seeks Participants

Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.

The study also is recruiting 30 adults with no neuromuscular disease.

Results will be used to identify ways that counselors and therapists can address specific factors considered important by people with congenital muscle diseases (present at or near birth).

‘CMD Standard of Care’ Guidelines Issued

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.

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