Muscle-Eye-Brain Disease

CMD, LGMD: New Light Shed on Sugar-Coating Process

Glycosylation — "sugar-coating" — of the muscle protein alpha-dystroglycan is known to be a crucial part of muscle function.

Without sufficient glycosylation, alpha-dystroglycan doesn't stick well to other proteins, and an important linkage between muscle fibers and their surroundings is disrupted.

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

Edison drugs target FA, mitochondrial diseases

Medical Management

In December 2010, an international panel of doctors and scientists, including many supported by MDA, published standard of care guidelines for CMD. Although directed at physicians and other professionals, the guidelines are helpful to parents as well.

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.

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.

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