posted on April 9, 2012 - 12:05pm
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...
posted on April 9, 2012 - 11:26am
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...
posted on April 9, 2012 - 11:15am
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.
posted on April 9, 2012 - 11:06am
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.
posted on April 9, 2012 - 10:58am
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.
posted on July 1, 2011 - 3:52pm
MDA-supported research in Charcot-Marie-Tooth disease is focused on figuring out what goes wrong at the molecular level in CMT-affected axons or the myelin sheaths that surround them, rather than on attempting to fix the problem directly or preserving nerve function in spite of it. A central theme emerging from the last decade of research is that myelin and axons require constant signals from...
posted on July 1, 2011 - 3:40pm
The field of Charcot-Marie-Tooth disease (CMT) research is expanding, and people with the disease can help move it forward.
Discovery of the complicated genetics underlying CMT has made it clear that more studies are needed to correlate the progression, symptoms and outward manifestations of the disease with its specific genetic type.
posted on July 1, 2011 - 2:17pm
As recently as the early 1990s, many experts hoped that understanding just a few genes that influenced the development or maintenance of myelin or axons would explain all of Charcot-Marie-Tooth disease.
It didn’t turn out to be that simple, however. Today, there are dozens of genes recognized that, when flawed, can cause CMT.
posted on June 30, 2011 - 1:27pm
It begins with weakness in the muscles of the lower legs and feet, causing frequent tripping and ankle injuries. Feet are often so high-arched that comfortable shoes can’t be found.
Hands also can be affected, making it difficult to hold a pencil, type on a computer or play a musical instrument.
Loss of sensation in the lower legs, feet, hands and forearms often occurs. Although not as...
posted on March 31, 2011 - 11:58am
We hear a lot these days about genes being destiny, about what can and can’t be done to go beyond predetermined biological limits.
A child born with a mutation in the gene for the muscle protein dystrophin, for instance, is destined to develop Duchenne or Becker muscular dystrophy, depending on the precise mutation and other factors.
