What is Myotonic Dystrophy, the rare disease that reportedly contributed to Gilbert Gottfried's death?

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Gilbert Gottfried, in a photo taken in 2020. (Photo by Slaven Vlasic/Getty Images for SiriusXM)

PHOENIX - We are learning more about the death of comedian Gilbert Gottfried, which was announced on April 12.

According to a statement from Gottfried's longtime friend and publicist, Glenn Schwartz, Gottfried died from recurrent ventricular tachycardia due to myotonic dystrophy type II, a disorder that affects the heart.

Here's more on the genetic disease that contributed to Gottfried's death.

What is myotonic dystrophy type II?

According to the Genetic and Rare Diseases Information Center, which a part of the National Institutes of Health (NIH), myotonic dystrophy type II is one of two types of myotonic dystrophy, which is a disease that affects the muscles and other body systems.

On the website of the Muscular Dystrophy Association, myotonic dystrophy is listed as a form of muscular dystrophy. Myotonic dystrophy type II, according to the website, is recognized in the 90s as a milder version of myotonic dystrophy type I, which is also referred to as Steinert Disease.

What is it caused by?

According to the Genetic and Rare Diseases Information Center, the two types of myotonic dystrophy are caused by mutations, or changes, in a human gene. Specifically, myotonic dystrophy type II is caused by a gene called CNBP.

According to MedlinePlus, an online health information resource site that is also part of the NIH, the CNBP gene provides instructions for making a protein that is found in many of the body's tissues, but is found most abundantly in the heart, and in muscles that are used for movement.

"The CNBP protein regulates the activity of other genes and is necessary for normal development before birth, particularly of muscles," read a portion of MedlinePlus' website.

On MDA's website, myotonic dystrophy type II is listed as being caused by an expanded DNA section in the CNBP gene.

What are the symptoms?

Myotonic dystrophy type II, according to the Genetic and Rare Diseases Information Center, is characterized by progressive muscle wasting and weakness, with symptoms typically beginning in a person's 20s.

"People with this condition often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use," read a portion of the website. "Also, affected people may have slurred speech; temporary locking of their jaw; and muscle pain and weakness that mainly affects the neck, shoulders, elbows, and hips."

Less common symptoms, according to the Genetic and Rare Diseases Information Center, include abnormalities of electrical signals that control the heartbeat, cataracts, and diabetes.

How do you ‘get' the disease?

Genetic disease is not something that can be contracted, in the manner a person would come down with the flu, for example.

According to the Genetic and Rare Diseases Information Center, myotonic dystrophy is passed from one generation to the next, and one copy of the mutated gene in each cell is enough to cause symptoms of this condition.

"In most cases, an affected person has one affected parent," read a portion of the website.

How would a person be diagnosed with the disease?

According to the Genetic and Rare Diseases Information Center, myotonic dystrophy is diagnosed via a physical exam, and the definitive test for any kind of myotonia dystrophy is a genetics test.

How do you treat the disease?

The website of the Genetic and Rare Diseases Information Center states there is no cure or specific treatment for myotonia dystrophy, and that treatment is aimed at managing symptoms.

Specifically, the website states that heart problems associated with the disease can be treated through inserting a pacemaker, medications, and regular monitoring of cardiac function.

Does having the disease means living a shorter life?

The website of the Genetic and Rare Diseases Information Center states that, based on information available in 2017, people with myotonic dystrophy type II may have a normal lifespan.

"While mobility may be impaired at an early age, the ability to walk is often retained until around 60 years old," read a portion of the website.

This article is not meant to diagnose or otherwise recommend treatment for any medical conditions or ailments. Anyone with questions about their health should consult with their primary care physician.

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