CLEVELAND, Ohio Stand-up comedian and actor Gilbert Gottfried, who died this week at 67, lived for years with the rare genetic muscle disorder myotonic dystrophy type 2, a common form of muscular dystrophy.
The cause of death was recurrent ventricular tachycardia, a heart condition, his longtime friend and publicist Glenn Schwartz announced.
Gottfried, known for his distinctive voice, was a cast member on Saturday Night Live, and the wisecracking parrot Iago in the animated Disney film Aladdin, among other roles.
Here are five things to know about myotonic dystrophy, with information provided by Med Page Today, the Myotonic Dystrophy Foundation and the Cleveland Clinic.
1. What is myotonic dystrophy?
Myotonic dystrophy is a rare, inherited disease that affects the muscles and other body systems. It is usually diagnosed in adulthood, often when a person is in their 20s or 30s. In this disorder, muscles throughout the body are unable to relax after they contract.
The condition is classified into two types: myotonic dystrophy type 1 (DM1), sometimes called Steinert disease, and myotonic dystrophy type 2 (DM2).
DM2 is generally considered less severe than DM1 -- though symptoms may vary among patients.
2. What causes it?
Myotonic dystrophy is usually caused by a gene mutation. It can be passed on by a family member, but may occur without a family history of the illness. People living with myotonic dystrophy have a 50% chance of passing on the mutated gene to their children.
3. What are the symptoms?
Symptoms include problems with muscles, heart, breathing, digestive system, hormonal, speech, swallowing, diabetic, immune system, vision, daytime sleepiness and cognition. Different people can have different symptoms.
The DM2 that Gottfried had is characterized by muscle weakness, wasting and pain. Muscles in the neck, fingers, elbows and hips are typically affected.
While the diseases rate of progression can vary, symptoms generally progress slowly.
4. How is it treated?
There are no treatments or cure available. Patients manage symptoms in a variety of ways, such as wearing ankle-foot braces, using a wheelchair, having cataracts removed or undergoing testosterone replacement therapy.
An implantable cardiac defibrillator devices that monitor the heart rate and send an electric pulse or shock to the heart to restore a normal heartbeat may be used to treat heart arrhythmias.
5. How many people have myotonic dystrophy?
It affects an estimated 1-in-2,100 people, or more than 3.6 million people globally. The muscular dystrophies as a whole are estimated to affect 250,000 Americans.
For more information:
Myotonic Dystrophy Foundation
Muscular Dystrophy Association
National Organization for Rare Disorders
Excerpt from:
Gilbert Gottfrieds myotonic dystrophy: 5 things to know about the rare genetic disorder - cleveland.com
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