Myotonic Dystrophy: Raising Awareness for the Most Common Muscle Disease

A Dutch foundation is launching a campaign to raise awareness of myotonic dystrophy (MD), a rare genetic disease often misdiagnosed or overlooked due to its diverse and evolving symptoms. The initiative, which includes a short documentary featuring individuals living with the condition, aims to shed light on a disease that affects an estimated 1 in 8,000 people worldwide, making it the most common form of muscular dystrophy.

“The symptoms in people with MD are so diverse that the disease is very elusive,” explains Hilde Braakman, a pediatric neurologist at Radboudumc in Nijmegen, Netherlands. Symptoms can range from muscle cramps and weakness to gastrointestinal problems, cataracts, and cognitive difficulties, varying significantly in severity and presentation even within the same family.

The campaign is spearheaded by the Dutch Myotonic Dystrophy Foundation (Stichting MD Nederland). Jannah Roovers, 27, who lives with MD, features prominently in the documentary. She initially hesitated to participate but was drawn to the project’s creative approach. “I wanted to contribute to raising awareness and research, and likewise to change the image people have of those with MD,” Roovers said.

Roovers’ personal experience with the disease is deeply intertwined with the loss of her father, who died in 2023 at age 60 from complications related to MD. As a child, she noticed subtle differences in her father’s physical abilities compared to other dads, such as his inability to easily lift her. However, her father maintained a positive outlook and focused on his capabilities, which sometimes left Roovers feeling isolated.

Recent genetic testing confirmed that Roovers and her two brothers all carry the gene responsible for MD. Braakman explains that children of parents with MD have a 50% chance of inheriting the condition. Crucially, the disease is progressive, meaning symptoms tend to appear earlier and are more severe in subsequent generations due to an increasing number of genetic repeats.

Currently, there is no cure for myotonic dystrophy, presenting a challenging decision for individuals considering genetic testing, particularly those without noticeable symptoms. Roovers considered testing as a child but postponed it, feeling overwhelmed. After her father’s death and the onset of mild muscle cramps, she and her brothers decided to undergo testing together, insisting on a joint consultation with medical staff at Radboudumc despite initial reluctance from the medical team.

Roovers, like her father, is now focused on maintaining a healthy lifestyle, emphasizing sleep, exercise, and building muscle strength. “It’s about building a buffer,” she explains.

Medical research offers a glimmer of hope. Braakman notes that research into MD is “at a crucial turning point,” with clinical trials underway to evaluate potential medicinal treatments for adults. These treatments aim to slow the progression of the disease, rather than cure it. Radboudumc is participating in a trial, including Roovers’ uncle, with initial results described as “hopeful.”

Roovers hopes the campaign will not only increase awareness and funding for research but also challenge perceptions of those living with MD. “I want people to see beyond the chronic illness and be curious about our lives, and to be less afraid of it,” she said. She also wants to ensure her father is remembered for his zest for life, not simply as someone defined by his illness.