“I hope this can help my nieces and nephews.”

Thousands of Quebec seniors deal daily with a little-known genetic disease that causes disabling symptoms, including muscle loss, swallowing problems and drooping eyelids. In fact, it is here in Quebec that there are the most cases in the world.

In the family of André Clément, originally from Montmagny, the disease strikes or spares siblings in equal proportions: out of eight brothers and sisters, four are affected, the other four are not.

In his late 40s, André Clément’s eyelids began to droop. “I had to lift my head to look in front of me,” he recalls. That was 15 years ago. He immediately understood that he had oculopharyngeal muscular dystrophy (OPMD). His mother had been diagnosed a few years earlier, after being hospitalized because she was no longer able to swallow her medication.

“It’s a dominant genetic disease. So when one parent has it, the children have a 50/50 chance of having it,” says Dr.^r François Codère, ophthalmologist and associate professor in the department of ophthalmology at the University of Montreal.

Thousands of Quebecers affected

OPMD is a form of muscular dystrophy that has been present in Quebec for centuries. It is now estimated that approximately 1 in 1,000 people in the province carry the mutation.

The disease is 100 times more common in Quebec than in France. “It’s a major problem in terms of public health and neurology,” says neurologist and researcher Bernard Brais of the Montreal Neurological Hospital. The specialist has been following patients with this disease since the early 1990s. He was also the one who identified the gene responsible for the disease at the start of his career.

At present, the most likely hypothesis is that the mutation was introduced to Quebec by three sisters, all Filles du Roy. “The same genetic error was found in France, in the same villages where these sisters came from,” explains Dr.^r Brais. Today, hundreds of families across Quebec are affected, with a greater concentration in the Lower St. Lawrence, particularly in Montmagny and L’Islet.

Late symptoms

People with the disease usually have no symptoms until their 40s, when they begin to have difficulty swallowing. Then their eyelids begin to droop. In their 60s, symptoms progress, leading to weakness in the legs. Some people will end up in wheelchairs.

“For a few years now, I’ve noticed that if I’m not careful when I eat, I’m constantly swallowing. The food doesn’t go down,” says André Clément. Some foods are worse than others. “Like green grape skins, peanut butter, hard-boiled eggs and French fries,” he explains. To swallow large pills, he mixes them with yogurt using a spoon.

“I eat more slowly and I’m careful. I eat cold, but at least I eat the same,” he sums up. Lately, he notices that he no longer has the same muscle strength, especially in his legs.

Interventions to reduce symptoms

There is no treatment to reverse the symptoms of the disease. “So we have great athletes who put their bikes away at 65 because they are no longer capable,” says Dr.^r Braise.

However, some interventions are performed to reduce the impact of symptoms. André Clément underwent a first operation in his early fifties, during which half an inch of skin was removed from his eyelids.

The procedure worked for a few years, but as the disease progressed, he had to undergo a second operation at age 60, called a forehead suspension. “We pass synthetic threads, like nylon, to make a strap between the eyebrow and the edge of the eyelid, so that when the patient lifts his forehead, it lifts the eyelids,” explains Dr.^r Francois Codere.

“It’s now the muscles in my forehead that open my eyelids,” Mr. Clément sums up. The procedure allows him to open his eyes much more easily, although it’s not perfect. “Even today, if I go to the optometrist and they ask me to open my eyes wide, I can’t. I use my fingers to open them.”

For patients who have severe swallowing problems, a temporary procedure can also be performed. “A tube is passed down the throat to dilate the muscles affected by the disease,” explains Dr.^r Braise.

For several months, a new gene therapy treatment has been under development in the United States. André Clément, 65, has offered to participate in the research if it were to be held in Quebec one day. “Until it is approved by Health Canada, I don’t think it will change much for me. But I hope it will be able to help my nephews and nieces.” This treatment could be the first to stop or even counteract the effects of the disease.