Doctor: Disease comic died from hard to diagnose

In the days following the death of actor and comic Gilbert Gottfried, Dr. Zara Kahn bristled a bit when she heard the illness that he suffered and eventually died from described as “rare.”

Gottfried — known, among other things, for his voice work in the Disney film “Aladdin” — died recently at age 67 from myotonic dystrophy type 2, which news reports are calling a rare form of muscular dystrophy.

But the reality is that it’s not known how common myotonic dystrophy type 2 is, said Khan, a general neurologist and neuromuscular specialist with the Stamford-based Hartford HealthCare Ayer Neuroscience Institute Chase Family Movement Disorders Center.

“I think type 2 myotonic dystrophy is probably under-recognized,” Khan said. “It’s challenging to diagnose.”

There are two kinds of myotonic dystrophy — type 1and type 2. Both illnesses affect muscles and other organs in the body, and are characterized by an inability to relax muscles after contracting them and progressive muscle weakness.

According to a February 2020 report from the Journal of the American Heart Association, the incidence of myotonic dystrophy type 1 may be as high as one in 2,500. According to the National Library of Medicine, type 1 appears to be more common than type 2, though recent studies suggest that type 2 may be as common as type 1 among people in Germany and Finland.

However, Khan said, no one knows exactly how prevalent type 2 is, largely because its symptoms can be mistaken for other problems, such as fibromyalgia.

“It can present very pain-predominant, without noticeable weaknesses,” she said.

Because of this, she said, there is reason to believe it is underdiagnosed.

Myotonic dystrophy type 1 is more easily spotted, Khan said, as it causes facial weakness and other changes that can be spotted in the patient’s appearance.

“(Those with type 1) have very distinct facial features,” she said. “It’s very striking.”

Myotonic dystrophy type 2 isn’t as noticeable in a person’s appearance, Khan said.

“A lot of times type 2 patients look very normal,” she said. “Sometimes they have facial weaknesses, but it’s very subtle. You have to look for it.”

Those with type 1 can also have a cognitive impairment that is more severe than in those with type 2, Khan said. There isn’t a noticeable problem with cognition in those with type 2, she said.

Khan said there are symptoms prevalent in both types of myotonia that people should be aware of. These include cataracts, problems with the muscles, a family history of any kind of myotonic dystrophy, and a family history of premature sudden cardiac death.

“These people should be the ones to pursue further testing,” she said.

Kevin Winter / Getty Images Actor and comedian Gilbert Gottfried died at 67 years old.