Myotonic Dystrophy Foundation Expanding Global Treatment

Article published by The Borgen Project.

RENO, Nevada — Behind closed doors, families across the world are fighting a disease most doctors barely understand: myotonic dystrophy. For many, the struggle is not just against the illness itself, but also against a system that offers pain relief instead of real, viable solutions. Remarkable people lose the ability to dance, to walk, to breathe. Muscles deteriorate and lose their strength, as doctors stand by without solutions.

What is Myotonic Dystrophy?

Myotonic dystrophy (DM) is a genetic disorder that causes progressive muscle weakness and wasting, causing unbearable pain and strain on the body as a whole. It does not just affect muscles, though. It can also impact the heart, eyes, lungs and other body systems, making it a multisystem, inherited disease.

Jan Bessey from Reno, NV, USA, lost her life to myotonic dystrophy (DM) in May 2025. She was just 50 years old, weighing under 100 pounds. Her diaphragm weakened and could no longer push CO₂ from her lungs. Jan slipped into a coma-like state, spending her final weeks surrounded by family. The only medical options were life-altering surgeries so risky that they could have ended her life in the process.

DM affects nearly 1 million people worldwide, facing the same pain Jan did. As organizations fight to spread awareness and education, those with DM may finally have a fighting chance to benefit from breakthroughs that target the disease at its core, rather than just its symptoms, marking an important step toward improving myotonic dystrophy global treatment access.

Scientific Breakthroughs with Revolutionary Potential

Promising therapies for DM are emerging in international research centers, offering hope to families who have long lived without treatment options.

In Japan, researchers are testing an erythromycin-based therapy in a Phase II clinical trial that may correct the RNA splicing errors at the heart of the disease. Early results suggest the approach is both safe and potentially effective.

Meanwhile, in France, scientists are testing new genetic approaches that hold promise for revolutionizing the future treatment of DM. At the Institut de Myologie in Paris, a team has used CRISPR interference (CRISPRi) to silence the faulty gene responsible for DM1, with a success rate of more than 80% in patient-derived cells, according to the Institute of Myology.

After decades of stalled progress, DM is finally seeing therapies that move beyond symptom management and toward transformative, disease-modifying care that targets the disease in remarkable new ways.

The Poverty Barrier

While breakthroughs in research are accelerating, treatments remain the same for many families living with DM in lower-income regions. Patients with the privilege of deeper pockets are more likely to access clinical trials, early genetic testing and experimental therapies that can enhance their quality of life. In contrast, impoverished and low-income households face a series of obstacles that delay diagnosis and limit care.

In low-resource settings, poverty erects severe barriers, widening the gap in myotonic dystrophy global treatment access. Limited healthcare infrastructure means DM is often misdiagnosed or not diagnosed at all, as well as catastrophic out-of-pocket costs for basic supportive care such as wheelchairs, respiratory therapy, or feeding support.

Studies show that DM patients in the U.S. face “hospitalization rates 3.7 times higher than matched controls in the first year after diagnosis,” and have twice as many outpatient visits.

“Genetic testing is the cornerstone of understanding and managing myotonic dystrophy, and improving access will empower individuals and families with critical information,” said Dr Homira Osman, Vice-President of Research and Public Policy at Muscular Dystrophy Canada. “By ensuring equitable access to testing, we can pave the way for earlier diagnoses, better care, and greater inclusion in clinical trials.”

According to global reports from the Myotonic Dystrophy Foundation, “access to testing, education and care varies significantly by country.” In many parts of the world, poverty, stigma, and inadequate health infrastructure highly exacerbate the challenges patients face.

Organizations Closing the Gap

As organizations continue to push for education and wider access, the possibility grows that effective treatments will reach more people without causing financial strain.

In 2025, more than 60 organizations worldwide signed the Myotonic Dystrophy Foundation Global Alliance Statement on Rare Disease Day. Together, they are working to expand access to genetic testing, raise awareness of DM, and educate clinical care teams worldwide on how to treat it more effectively.

The Myotonic Dystrophy Foundation spearheads advocacy for impartial trial access, promoting clinical care guidelines in multiple languages. The Foundation also hosts a Digital Academy, providing free education to clinicians and families, expanding opportunities for patients in underrepresented regions.

TREAT-NMD Global Alliance provides a global registry platform for neuromuscular diseases, including DM. By connecting clinicians and researchers worldwide, TREAT-NMD helps ensure patients in low-resource settings can participate in clinical studies and benefit from new treatment pathways without restrictions.

Why This Matters for Global Health Equity

For most DM patients, treatments remain out of reach, locked behind a price tag they cannot afford. Studies have shown that poverty fuels health inequality with rare diseases, with medical science often progressing separately from the systems that distribute care.

The Myotonic Dystrophy Foundation states, “We are focused on the pursuit of a brighter future for individuals and families affected by DM, and we are dedicated to our mission to accelerate the development of treatments and work toward a cure.”

If global coalitions succeed in their mission, the future for DM treatment could look very different. Advances in technology, therapies and genetic testing would no longer be available to laboratories or to wealthy individuals. Instead, families everywhere could benefit from treatments that address the disease at its core, while having enough money left over to keep the lights on.

True progress with myotonic dystrophy global treatment access demands that hope be shared equally, so that breakthroughs for DM don’t remain the privilege of a few, but become a lifeline for all.

– Nicole Fernandez

Nicole is based in Reno, NV, USA and focuses on Good News and Global Health for The Borgen Project.