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Recent Quest Articles

MMD Research: Targeted Destruction

Thomas Cooper, a professor in the Department of Pathology and Immunology at Baylor College of Medicine, is a longtime MDA research grantee who has current MDA support to develop oligonucleotide-based therapies for  myotonic muscular dystrophy (MMD, also known as DM).Margaret Wahl, MDA's medical and science editor, talked with Cooper about his research.

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MMD Research: Multiple Strategies Make Sense

Charles Thornton, a professor of neurology at the University of Rochester (N.Y.), has received MDA support for research in  myotonic muscular dystrophy (MMD, also known as DM)  and other neuromuscular diseases. He's currently developing antisense oligonucleotides  and  small molecules  for MMD. Thornton also co-directs the MDA clinic and directs the MDA/ALS Center at the University of Rochester Medical Center.

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MMD Research: Seeking to Free Proteins from a ‘Toxic Web’

The complex and multifaceted disease known as  myotonic muscular dystrophy (MMD)  — also known as dystrophia myotonia (DM) — was the subject of an In Focus report in the April-June 2012 Quest.Here, we delve into experimental strategies that may markedly improve the outlook for people with this disorder.

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SMA Research Briefs: New Gene ID'd, Disease Modifier Explored

Below are highlights of two recent studies in  spinal muscular atrophy (SMA), a disease in which the nerve cells (motor neurons) that control muscles in the spinal cord die, causing progressive weakness in the voluntary muscles.   Flaws in the tail-end of the  cytoplasmic dynein 1 heavy chain 1  (DYNC1H1) gene lead to a rare form of SMA, a team of researchers from the United States and United Kingdom has reported.

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DMD Drug SMT C1100 Moves to Human Testing

Update (May 25, 2012)- Summit announced today that the first group of healthy volunteers in the phase 1 trial of its newly formulated SMT C1100 has begun receiving the drug. The dose-escalating trial will evaluate whether the new formulation of SMT C1100 is safe and whether consistent blood levels of the drug can be achieved. Results are expected by the end of the year.

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The Right Ramp Can Make Your Life Easier

Whether facing a 2-inch-high curb or a 3-foot-tall porch, the results for a person in a wheelchair can be exactly the same: no passage.The way around both these barriers is, of course, a wheelchair ramp, though they will be decidedly different. The first might be a portable, foldable aluminum device, while the second might be a large, permanent structure made of concrete or galvanized steel.

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Energy, Dedication, Hope Help Parents of Children with Congenital MMD1

Concern about Cody Beam started right away. "About 12 minutes after he was born, he quit breathing while my husband was holding him," recalls Cody’s mother, Tina Beam, of Arlington, Wash.Cody, born at Providence Regional Medical Center in Everett, Wash., was "very floppy and couldn't swallow," Tina recalls. He was whisked away to the neonatal intensive care unit, where he was placed on a ventilator, and then transferred to Seattle Children's Hospital when he was a week old. He stayed there another three weeks.

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Cardiac Care in MMD: Lack of Symptoms May Mask Deadly Problems

In 2006, Ron Hayes was a 54-year-old executive at Procter & Gamble in Cincinnati when he began noticing some weakness in his hands. "I was trying to clean my glasses," he remembers, "and my thumb couldn’t push the spray." A visit to a hand surgeon resulted in a referral to a neurologist and ultimately to a diagnosis of adult-onset  MMD1. A DNA test of Hayes’ blood cells revealed 131 CTG repeats, consistent with the mild end of the MMD1 spectrum. In fact, Hayes had been active in sports in high school and had a football scholarship in college.

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Excessive Daytime Sleepiness Can Be 'Debilitating' in MMD1 and MMD2

Thirty-two-year-old Doug Hayes has struggled with some of the cognitive and social features of  type 1 myotonic dystrophy (MMD1  or  DM1)  most of his life. But there’s something else that’s contributed to his difficulties with jobs and schooling: daytime sleepiness. Doug recently had a job scanning documents, his father says, but his daytime sleepiness interfered.

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Juvenile-Onset MMD1 Can Cause Cognitive, Behavior Challenges

Ron Hayes didn't get a diagnosis of  type 1 myotonic dystrophy (MMD1 or DM1)  until he was 54, long after he had enjoyed academic and athletic success in high school and college, had earned a master's degree in public health, had married and had children, and had established himself in a career.

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MDA Resource Center: We’re Here For You

Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA services are only available in the U.S.

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