Myotonic Muscular Dystrophy (MMD)

Researchers Tweak Experimental Therapy for MMD1

Scientists at the biopharmaceutical company Genzyme, working with mice, say they have modified and improved an existing experimental strategy to treat type 1 myotonic muscular dystrophy (MMD1, also known as DM1).

Congenital-Onset MMD1

Medical Management

Babies born with congenital-onset MMD1 have the most complex medical challenges seen in MMD. Although the prognosis for these children has improved, the disease still has profound consequences and can be life-threatening, especially in the early months.

The subjects covered in this section are:

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:

Juvenile-Onset MMD1

Signs and Symptoms

When MMD1 begins in early childhood (but not at birth), the first symptoms tend to be more behavioral and cognitive than physical. Some people with the juvenile-onset form struggle with planning ahead, decision-making and visual-spatial processing. An "avoidant" or apathetic personality can be part of the picture.

As the child matures into adulthood, typical features of adult-onset MMD1 usually emerge.

$13.6 Million in New MDA Grants Promote Understanding, Treatment of Neuromuscular Diseases

The Muscular Dystrophy Association has awarded 44 new grants totaling $13.6 million to advance the understanding and treatment of neuromuscular diseases. The new grants, most of which took effect Feb. 1, encompass a range of diseases covered by MDA’s research program, and they support innovative approaches to basic research and new drug development.

In addition to addressing 16 specific neuromuscular diseases under MDA’s umbrella, the grants also fund research into muscular dystrophy in general, and research into muscle physiology related to neuromuscular disease.

MMD — Darren Monckton, Ph.D.

Darren Monckton, professor of human genetics at the University of Glasgow in Scotland, was awarded an MDA research grant totaling $273,892 over a period of two years to develop new diagnostic tests for myotonic muscular dystrophy type 1 (MMD1, also known as DM1)

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.

MMD — Matthew Disney, Ph.D.

Matthew Disney, associate professor of chemistry at The Scripps Research Institute in Jupiter, Fla., was awarded an MDA research grant totaling $362,724 over a period of three years to test the ability of compounds he has developed to target the toxic RNA in myotonic dystrophy type 2 (MMD2, also known as DM2).

MDA Establishes Myotonic Dystrophy Clinical Research Network

MDA has launched a new, five-center clinical research network focused on type 1 and type 2myotonic muscular dystrophy (MMD1 and MMD2, also known as DM1 and DM2), with the principal goal of preparing for testing of new MMD treatments as they become available.

Elizabeth Shirk

Elizabeth earned a degree in graphic art from San Diego State University. She first specialized in printmaking and received numerous awards for her works, including Best of Show. In 1990, Beth began working in watermedia, and she frequently had works in juried exhibitions. Her husband, Mike, also has paintings in the MDA Art Collection, and they both are members of the San Diego Watercolor Society.

Full name: 
Ms. Elizabeth Shirk
Elizabeth Shirk
Myotonic Muscular Dystrophy (MMD)