Nationwide Children’s Podcast Explores the Congenital Muscular Dystrophies

 

In a September 2012 podcast from Nationwide Children's Hospital in Columbus, Ohio, pediatric neurologist and MDA grantee Francesco Muntoni discusses recent advances in the understanding of congenital muscular dystrophies (CMD).

Why Does It Take So Long To Go from Mouse to Man?

John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human clinical trials. Why does it take so long?

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

Going to the Emergency Room: Tips for People with Neuromuscular Diseases

When a medical emergency strikes — and the patient is a person with a neuromuscular disease— it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

Research

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.

Medical Management

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.

Causes/Inheritance

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.

Diagnosis

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.

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