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What Is Myotonic Dystrophy, Which Took Away Gilbert Gottfried?

We’re learning more about Gilbert Gottfried’s death, which was revealed on April 12.

Gottfried died from recurrent ventricular tachycardia caused to myotonic dystrophy type II, according to his longtime friend and publicist, Glenn Schwartz.

Here’s more on Gottfried’s genetic condition.

Gilbert Gottfried1

What is MDS II?

Myotonic dystrophy type II is one of two forms of myotonic dystrophy, a disease that affects the muscles and other body systems.

The Muscular Dystrophy Association lists myotonic dystrophy as a kind of muscular dystrophy. It was discovered in the 1990s as a milder variant of myotonic dystrophy type I, also known as Steinert Disease.

What causes it?

The Genetic and Rare Diseases Information Center states that both kinds of myotonic dystrophy are caused by gene mutations. Myotonic dystrophy type II is caused by the CNBP gene.

The CNBP gene gives instructions for creating a protein that is found in many bodily tissues, but is particularly prevalent in the heart and muscles that move.

“The CNBP protein regulates the action of other genes and is required for appropriate prenatal development, especially of muscles,” stated MedlinePlus.

On the MDA website, an enlarged DNA segment in the CNBP gene causes myotonic dystrophy type II.

What symptoms?

Myotonic dystrophy type II causes gradual muscle wasting and weakening, with symptoms often appearing in one’s 20s.

According to the website, people with this illness have “prolonged muscle contractions (myotonia) and cannot relax some muscles after use.” “Affected patients may also have slurred speech, jaw locking, and muscle soreness and weakness in the neck, shoulders, elbows, and hips.”

Other symptoms include irregular cardiac electrical signals, cataracts, and diabetes, according to the Genetic and Rare Diseases Information Center.

How do you obtain it?

Genetic disease cannot be contracted, as the flu can.

According to the Genetic and Rare Diseases Information Center, myotonic dystrophy is inherited and just one copy of the faulty gene per cell is required to induce symptoms.

“Most affected people have one affected parent,” the website stated.

How is the condition diagnosed?

A physical exam can diagnose myotonic dystrophy, but a genetic test is the only way to be sure.

How do you treat it?

Myotonia dystrophy has no cure or specific treatment, according to the Genetic and Rare Diseases Information Center’s website.

The website adds that a pacemaker, medicines, and regular monitoring of cardiac function can treat the disease’s heart problems.

Does having the condition shorten your life?

According to the Genetic and Rare Diseases Information Center’s website, people with myotonic dystrophy type II may live a normal lifespan.

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“While mobility may be lost early, walking ability is generally kept until over 60 years old,” the website stated.

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