Congenital Muscular Dystrophy (CMD)

CMD - Peter Currie, Ph.D.

Peter Currie, professor of medicine at Monash University in Australia, was awarded an MDA research grant totaling $300,000 over three years to test two therapeutic strategies for laminin alpha-2 deficiency in a zebrafish model of congenital muscular dystrophy (CMD). The work will support or refute the hypothesis that muscle fiber detachment is the primary defect in laminin 2-deficient muscular dystrophies, and could prompt a paradigm shift for therapeutic strategies in these diseases.

CMD - Liza Pon, Ph.D.

Liza Pon, professor of pathology and cell biology at Columbia University in New York was awarded an MDA research grant totaling $300,000 over three years to study the underlying mechanisms at work in CHKB congenital muscular dystrophy (CMD).

New Guideline for CMD Diagnosis and Care

This spring, the American Academy of Neurology (AAN) released a guideline for the diagnosis and care of children with congenital muscular dystrophy (CMD), a group of early-onset, genetic disorders that can involve skeletal (including respiratory) muscle weakness, heart problems, brain and eye abnormalities, and contractures (frozen joints).

An early-onset disease with many genetic causes

CMD: Phase 1 Omigapil Trial Remains Open

Santhera Pharmaceuticals continues to recruit participants for a phase 1 trial of omigapil in children and adolescents with the type 1A form of congenital muscular dystrophy (CMD)

CMD/LGMD - Maria Chiara Manzini, Ph.D.

Maria Chiara Manzini, an assistant professor of pharmacology, physiology and integrative systems biology at George Washington University in Washington, D.C., was awarded an MDA research grant totaling $253,800 over three years to identify specific genetic mutations underlying congenital muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) in patients who do not have a genetic diagnosis and to study the effects of these mutatio

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

Children and adolescents with Ullrich congenital muscular dystrophy or Bethlem myopathy are invited to participate in a study of a daily breathing treatment regimen using a brand-name device called a CoughAssist.

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.

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