Latest Editions

Recent Quest Articles

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.

Read More

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.

Read More

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.

Read More

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.

Read More

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.

Read More

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.

Read More

In Focus: Myotonic Muscular Dystrophy

As far back as Carla Licon can remember, her mother had difficulty opening jars and walking long distances. Licon’s mother wore ankle braces, and she also had an unusual symptom known as "myotonia," the inability to relax muscles, such as a clenched hand, at will.Licon, who is 31 and lives in Victoria, Texas, thinks these symptoms started when her mother was in her 20s. Later, her mother’s respiratory muscles weakened, leading to pneumonia, respiratory failure and her death at the age of 52.

Read More

SMA Disease Course May Be Affected by ZPR1

Adequate levels of  zinc finger protein 1 (ZPR1)  appear to be a "protective" modifier of  spinal muscular atrophy (SMA), an MDA-supported team of scientists has reported.Modifiers influence disease onset and severity by changing various biological pathways.The identification of ZPR1 as a modifier reveals a potential target for therapy development and also sheds light on the mechanisms that drive SMA.

Read More

SMA Research Briefs: Antisense and Fasudil

Below are highlights of two studies in  spinal muscular atrophy (SMA), a disease in which the nerve cells that control muscles (motor neurons) in the spinal cord die, causing progressive weakness in the voluntary muscles.The underlying cause of SMA is a deficiency of  SMN  protein, which cells normally produce using genetic instructions carried by two nearly identical genes in the body:  SMN1  and  SMN2. (SMN stands for "survival of motor neurons".) The deficiency occurs when flaws in the SMN1 gene render its genetic instructions unusable. Some — but not enough — SMN protein is produced from the instructions carried by the SMN2 gene.

Read More

MDA Genetic Counseling Webinar Answers Key Questions

Respondents to MDA’s Transitions Survey — in other words, people with a neuromuscular disease who are in their teens through late 30s — made it clear they had questions about the genetics of their disease, as well as questions about family planning and the value of diagnostic testing. MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, answers many of those questions.

Read More

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.

Request Services