Myotonic Dystrophy: Understanding the Most Common Muscular Dystrophy

Although most people recognize Amyotrophic Lateral Sclerosis (ALS), myotonic dystrophy (MD) remains largely unknown. According to child neurologist Hilde Braakman of Radboudumc, this is due to the disease itself. “The symptoms in people with MD are so diverse that the disease is very elusive.” Despite its relative obscurity, myotonic dystrophy is the most common form of muscular dystrophy worldwide.

What is Myotonic Dystrophy?

Myotonic dystrophy (MD1) is a rare, inherited genetic disorder. It’s characterized by myotonia – a delayed relaxation of muscles after contraction – and a gradually worsening range of symptoms. These symptoms can vary significantly from person to person, making diagnosis challenging.

Symptoms of Myotonic Dystrophy

The symptoms of myotonic dystrophy are incredibly diverse and can include:

• Muscle cramps and weakness
• Gastrointestinal problems
• Cataracts
• Cognitive difficulties or learning problems
• In severe cases, organ failure

The severity and specific manifestations of the disease differ greatly between individuals, and even within the same family.

Raising Awareness and Supporting Research

The Dutch Myotonic Dystrophy Foundation (Stichting MD Nederland) is working to increase awareness of this condition through campaigns and documentaries. Jannah Roovers, a 27-year-classic living with MD, features in a mini-documentary produced by the foundation. She initially hesitated to participate but was drawn to the creative concept.

The Impact on Families

Jannah’s father passed away in 2023 at the age of 60 due to complications from MD. Growing up, she noticed subtle differences in her father’s physical abilities, such as his inability to lift her as easily as other fathers. However, her father maintained a positive outlook and focused on his capabilities, which sometimes left Jannah feeling isolated.

Inheritance and Progression

Myotonic dystrophy is inherited, meaning it’s passed down through families. “If a parent has MD, each child has a 50 percent chance of inheriting the disease,” explains Braakman. The disease is also progressive, meaning symptoms tend to worsen with each generation.

Diagnosis and Testing

Due to the lack of widespread awareness, there is currently no cure or specific treatment for myotonic dystrophy. This creates a tough decision for individuals without symptoms regarding whether to undergo genetic testing. Jannah considered testing as a child but ultimately deferred the decision to herself, as her brothers seemed less concerned.

Recent Developments and Hope for the Future

After her father’s death and the onset of mild muscle cramps, Jannah and her brothers decided to gain tested and all were found to carry the gene. Medical research into MD is at a “crucial turning point,” according to Braakman. While a cure remains elusive, clinical trials are underway to investigate medicinal treatments that can alleviate symptoms in adults. Radboudumc is participating in one such trial, with promising initial results.

Beyond the Diagnosis

Jannah hopes her participation in the awareness campaign will help shift perceptions of people with MD. “It’s important to me that people are more than their chronic illness, and that we remain curious about their lives and less afraid of them.” She wants to ensure her father is remembered as a vibrant individual, not simply as someone defined by his disease.

Where to Find More Information

• Radboudumc – Myotone Dystrofie (MD1)
• Het expertisecentrum myotone dystrofie
• Radboud Fonds – Myotone Dystrofie