Congenital Muscular Dystrophy (CMD)

New Forms of Genetic Testing Improve Diagnosis, Raise Questions

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

MD-CARE Act Congressional Briefing Accelerates Reauthorization Momentum

"The energy in the room was high, and the mood was optimistic," said Annie Kennedy, MDA's senior vice president of advocacy, speaking about the Congressional briefing on reauthorization of the MD-CARE Act that she attended and helped to organize. The briefing was co-hosted by MDA and other muscular dystrophy organizations in Washington, D.C., on Feb.

CMD, LGMD: Trial of Breathing Treatment Now Open

Study Seeks Parents, Guardians of Young Children with Neuromuscular Disease

The National Institute of Nursing Research, part of the National Institutes of Health (NIH) in Bethesda, Md., is seeking parents or guardians of children from birth through age 5 with a neuromuscular disease for a study to develop a questionnaire about motor function in young children.

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.

DMD — Rachelle Crosbie-Watson, Ph.D.

Rachelle Crosbie-Watson, professor of neurology at the University of California, Los Angeles, was awarded an MDA research grant totaling $300,000 over a period of three years to study whether increasing levels of the sarcospan protein can be therapeutic for Duchenne muscular dystrophy (DMD) and other muscle diseases.

Types of CMD Chart

The chart includes 33 types of congenital muscular dystrophy, listed in alphabetical order (see chart below). To navigate the page more quickly, select your CMD type from the bulleted list.

DMD: 'Permanent' Gene Repair Strategy Looks Good in Lab

Permanent repair of a faulty gene has long been a goal of researchers working to develop gene-based therapies. But many current gene modification strategies that have entered clinical trials have been based on temporary forms of gene correction — treatments that will need to be given frequently throughout a person's life.

MD Briefs: Registries Are Still Open

FSHD, MMD: Registry remains open

The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular dystrophy (MMD, or DM), and their families, about its registry to advance research in these two disorders.

‘Focused, Intense’ MDA Conference Advances Neuromuscular Disease Research

Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.

A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in clinical trials for neuromuscular diseases, and the unique opportunity the conference provided for information-sharing and collaboration among scientific professionals from many disciplines.

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