Congenital Myotonic Dystrophy

‘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.

Adult-Onset MMD1/MMD2 and Juvenile-Onset MMD1

Medical Management

This section addresses medical management of the many symptoms of adult-onset MMD1 and MMD2, as well as juvenile-onset MMD1. These three forms of MMD share similar medical management strategies.

The subjects covered are:

Muscle Physiology — Masahiro Iwamoto, Ph.D., D.D.S.

Masahiro Iwamoto, research scientist at the Children’s Hospital of Philadelphia and associate professor of pediatric orthopedics at the University of Pennsylvania School of Medicine, was awarded an MDA research grant totaling $405,000 over a period of three years to study new ways to reduce muscle degeneration.

International MMD Consortium Includes Professionals, Families

The 8th International Myotonic Dystrophy Consortium Meeting (IDMC-8), was an exciting mix of the latest scientific developments and clinical research in types 1 and 2 myotonic dystrophy (MMD1 and MMD1, also known as DM1 and DM2).

Medical Management

As yet, there’s no specific treatment that “gets at the root” of type 1 or type 2 myotonic muscular dystrophy (MMD1 or MMD2). Treatment is aimed at managing symptoms and minimizing disability.

This section first addresses medical management of the many symptoms of adult-onset MMD1/MMD2 and juvenile-onset MMD1. Not everyone will require all these aspects of medical management, and some symptoms may first appear or worsen as a person grows older.

Myotonic Muscular Dystrophy

Description: 

MDA leads the search for treatments and therapies for myotonic muscular dystrophy (MMD). The Association also provides comprehensive supports and expert clinical care for those living with MMD.

In this section, you’ll find up-to-date information about myotonic muscular dystrophy, as well as many helpful resources. This information has been compiled with input from researchers, physicians and people affected by the disease.

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

Edison drugs target FA, mitochondrial diseases

MDA Awards $21 Million for Research

In December 2009, MDA awarded $21 million in new research grants for neuromuscular disease research.

MDA's Scientific Advisory Committee (SAC) and Medical Advisory Committee (MAC) meet each fall and spring to review applications for research grants. Applications are scored on the basis of the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the diseases in MDA's program. MDA's Board of Directors then reviews the recommendations of the MAC and SAC.

Three-Protein Repair Cluster Identified

Scientists in the United States and Japan have identified a three-protein cluster that reseals damaged muscle-fiber membranes. The findings, published June 5, 2009, in the Journal of Biological Chemistry, could have implications for development of treatments for muscular dystrophies.




The Muscle-Fiber Membrane

Building a Better Gene

Displacement of a protein called neuronal nitric oxide synthase (nNOS) from the membrane that surrounds each skeletal muscle fiber appears to be a much more important contributor to exercise intolerance and even cardiac degeneration in some forms of muscular dystrophy than previously recognized.

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