Myotonic Muscular Dystrophy (MMD)

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.

MMD2: Designer Compounds Free a Trapped Protein

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.

Companies to Develop Antisense Drug for Myotonic Dystrophy

 Biotechnology companies Isis Pharmaceuticals and Biogen Idec have entered into a multi-year collaboration to advance antisense technology for the treatment of neurological diseases — including type 1 myotonic dystrophy (MMD1, or DM1).

Study Probes Impact of Early-Onset MMD1

Communication difficulties, social role limitations, problems with mobility and walking, and cognitive impairment were the most frequently mentioned themes in open-ended interviews conducted with people affected by congenital-onset or childhood-onset type 1 myotonic muscular dystrophy (MMD1, or DM1) or their parents.

MDA Awards $8.5 Million to 31 Neuromuscular Disease Research Projects

In its summer 2013 round of research grant awards, the Muscular Dystrophy Association aims to catalyze research progress in a dozen neuromuscular diseases, with an eye toward applying that knowledge to related muscle diseases, as well.

“A large number of our grants are investigating new therapeutic technologies,” notes Jane Larkindale, MDA's vice president of research. “These are 'platform' technologies, where successes can be transferred well beyond the specific disease in which they are developed and tested.”

MMD1: Abnormalities Found in PKM Enzyme

An abnormality in a muscle enzyme known as pyruvate kinase (PKM) has been added to the list of things that go wrong in type 1 myotonic muscular dystrophy (MMD1, or DM1), a new study has found.

MDA supported Thomas Cooper at Baylor College of Medicine in Houston on this study, which was published online in Proceedings of the National Academy of Sciences July 30, 2013.

MDA Study Reveals ‘Cost of Illness’ for ALS, DMD, MMD

"We now have numbers to point to," said Annie Kennedy, MDA's senior vice president of advocacy. "It's not just a back-of-the-envelope calculation anymore. It's real data."

MMD — Maurice Swanson, Ph.D.

Maurice Swanson, professor of molecular genetics and microbiology at the University of Florida College of Medicine in Gainesville, was awarded an MDA research grant totaling $300,000 over a period of three years to develop models to study sleep disturbance in types 1 and 2 myotonic muscular dystrophy (MMD1 and MMD2, also known as DM1 and DM2).

MMD — Michael Pape, Ph.D.

Michael Pape, president of Nymirum in Ann Arbor, Mich., was awarded an MDA research grant totaling $197,066 over a period of one year to develop drugs to treat type 1 myotonic muscular dystrophy (MMD1, also known as DM1).

Pages