Fukuyama Congenital Muscular Dystrophy

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.

CMD, LGMD: 'Conditional Knockout' Mouse Will Help Researchers Study Fukutin Deficiency

By disrupting the fukutin gene at different time points in mice embryo, researchers have been able to develop research models of two types of human muscle disease: Fukuyama congenital muscular dystrophy (Fukuyama CMD)  and type 2M limb-girdle muscular dystrophy (LGMD2M).

Global CMD1C/LGMD2I Registry Opens

A new registry has been launched for people with conditions caused by mutations in the gene for fukutin-related protein (FKRP). This includes people with the type 2I form of limb-girdle muscular dystrophy (LGMD) and the type 1C form of congenital muscular dystrophy (CMD) and, in rare instances, the congenital muscular dystrophies muscle-eye-brain disease and Walker-Warburg syndrome.

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.

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