Medical Procedures

A research study of the use of the CoughAssist machine is open to children and teens with Ullrich congenital muscular dystrophy or Bethlem myopathy

posted on February 14, 2014 - 11:59am
Children and adolescents with Ullrich congenital muscular dystrophy or Bethlem myopathy are invited to participate in a study of a daily breathing treatment regimen using a brand-name device called a CoughAssist.

A challenging and multifaceted disease

posted on April 9, 2012 - 12:05pm
QUEST Vol. 19, No. 2
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...

When scarring develops in the heart's conduction system, abnormal heart rhythms can develop, sometimes without the person recognizing that anything is wrong

posted on April 9, 2012 - 10:58am
QUEST Vol. 19, No. 2
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.

Adults with MMD1 and minor cardiac conduction defects benefit from invasive testing and possible pacemaker insertion

posted on April 3, 2012 - 6:00am
New evidence suggests that relatively aggressive management of seemingly minor cardiac conduction defects in adults with type 1 myotonic dystrophy (MMD1, or DM1) can prolong survival.

The American Academy of Neurology has released guidelines for the use of intravenous immunoglobulin, which modulates the immune system in MG, LEMS and myositis

posted on March 29, 2012 - 10:21am
The American Academy of Neurology (AAN) has released new guidelines on the use of a treatment called intravenous immunoglobulins (IVIG) in various neuromuscular disorders.

The biggest problem at an ER may not be the one you go in with, but the one you encounter there

posted on July 1, 2011 - 4:18pm
QUEST Vol. 18, No. 3
When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

Can love, courage and modern medical technology prevent muscular dystrophy from being passed on to the next generation?

posted on March 31, 2011 - 12:01pm
QUEST Vol. 18, No. 2
It was the worst Monday morning of our lives — and Mondays are universally bad. My wife, Monique, and I woke up to a snow lockdown in London. The snow had started gently enough in the evening, but now on this January morning it was a white strait jacket. We could hardly move, but we desperately needed to get to Nottingham at all costs. Our potential future children — two fertilized and rapidly...

A physician with mitochondrial myopathy describes undergoing and taking care of her tracheostomy

posted on March 31, 2011 - 10:23am
QUEST Vol. 18, No. 2
I am writing this article about getting a tracheostomy for others with muscular dystrophies. Many patients are reluctant to have the procedure done because they fear they will lose the ability to talk or to swallow. Neither is true. And, the new trach tubes make it possible to easily take care of a tracheostomy and the tubes.