Rare Disease Day: Momentum in Neuromuscular Diseases is Building, but Progress Depends on Sustained Investment

Every year on Rare Disease Day, communities around the world come together to shine a light on conditions that are too often overlooked or underfunded. Historically, rare diseases have been defined by what they lack: large patient populations, widespread public awareness, and approved treatments. Yet collectively, rare diseases affect more than 30 million people in the United States and more than 300 million worldwide. Within this community, neuromuscular diseases (NMDs) tell a powerful story of resilience and progress. It is a story that illustrates how far science has come, why rare disease research matters, and why sustained public investment remains essential.

A Decade of Progress

Neuromuscular diseases are a diverse group of conditions that impair the muscles and the nerves that control them, affecting a person’s ability to walk, lift their arms, breathe, or speak. Some begin in childhood, others emerge later in life, and most are progressive. While individually rare, together they represent both a substantial public health burden and a significant opportunity for medical advancement.

Over the past decade, rare disease drug development has advanced at an unprecedented pace. More than 30 therapies have now been approved for neuromuscular conditions alone, reflecting major scientific breakthroughs alongside policy frameworks designed to encourage innovation for smaller patient populations. Advances in gene sequencing, RNA-based therapies, and biomarker development have expanded what is scientifically possible. Researchers can now identify disease-causing mutations more precisely, track disease progression more sensitively, and design therapies that target the underlying biology of individual conditions.

Progress, however, is measured by more than regulatory approvals alone. Improvements in clinical trial design, patient-reported outcome measures, and natural history studies have transformed how neuromuscular diseases are studied. These advances make it possible to detect meaningful changes in small patient populations and to evaluate therapies more efficiently and ethically. Diseases that once had no research pipeline now have multiple therapeutic strategies under investigation, while conditions with early treatments are seeing second- and third-generation approaches aimed at improving durability, safety, and access.

Despite this momentum, developing therapies for rare neuromuscular diseases remains a long and complex journey. The path from discovery to approved treatment is rarely linear. Setbacks are common, and success depends on sustained collaboration among scientists, clinicians, patients, advocacy organizations, and funders. Without consistent support, promising lines of research can stall before they ever reach the people who need them most.

Today, the field stands at a critical inflection point. Advances in genomics, RNA biology, imaging, and data science are converging, creating unprecedented opportunities to translate basic discoveries into meaningful therapies. Fully realizing this potential requires sustained investment across the entire research ecosystem from foundational science that uncovers disease mechanisms, to long-term natural history studies, to clinical research infrastructure capable of supporting small and geographically dispersed patient populations. Equally important is investment in people. Training and retaining the next generation of scientists, clinicians, and trialists is essential for translating innovation into patient care. Rare neuromuscular diseases demand specialized expertise, and building that expertise takes time, mentorship, and stability.

As we approach Rare Disease Day on February 28, 2026, this moment calls for both celebration and action. Nowhere is this more evident than in the expansion of newborn screening. For families facing progressive neuromuscular diseases, time is the most precious currency, measured in muscle strength, respiratory capacity, and the ability to walk, breathe, or swallow independently. The recent addition of Duchenne muscular dystrophy (DMD) to the Recommended Uniform Screening Panel (RUSP) marks a historic milestone. Duchenne is a devastating genetic condition that leads to progressive muscle degeneration beginning in early childhood. Detecting the disease at birth, before symptoms appear, allows families and clinicians to intervene earlier, preserve function longer, and improve long-term outcomes.

The science supporting early detection is clear. Early genetic diagnosis enables timely access to therapies, clinical trials, and standards of care that are increasingly effective when initiated before irreversible muscle damage occurs. Today, families living with Duchenne have access to multiple FDA-approved therapies, with many more in development.

Newborn screening has already demonstrated its life-saving potential in other neuromuscular diseases, including spinal muscular atrophy (SMA). Once the leading genetic cause of infant mortality, SMA has been transformed by early screening and treatment. A recent FDA approval of a new SMA therapy further expands options for patients across age groups and disease stages, reinforcing what the rare disease community has long known: early diagnosis paired with rapid access to treatment saves lives.

Gene therapy is also reshaping the rare disease landscape. Advances in gene replacement, gene editing, and RNA-based approaches are opening new possibilities for conditions once considered untreatable. Today, hundreds of active clinical trials are underway in neuromuscular diseases, many building on decades of foundational research.

The Muscular Dystrophy Association (MDA) has played a central role in this progress. For more than 70 years, MDA has invested in basic, translational, and clinical research, often long before commercial interest emerged. That sustained commitment recently culminated in the FDA approval of the first treatment for thymidine kinase 2 deficiency (TK2d), an ultra-rare and life-threatening mitochondrial disease. The therapy traces its roots directly to MDA-funded research, demonstrating how early, mission-driven investment can ultimately deliver lifesaving treatments to patients with the rarest of conditions.

Yet progress is not guaranteed.

Behind every breakthrough in rare neuromuscular disease research is a community: patients who volunteer for trials, families who advocate in Washington, clinicians who translate science into care, and researchers who persist through the inevitable setbacks of discovery science. Public investment through NIH funding and thoughtful policy incentives like the Rare Pediatric Disease Priority Review Voucher Program that was just reauthorized for five more years, amplifies these efforts, turning individual dedication into collective progress.

On Rare Disease Day, we are reminded that rarity does not diminish importance. Neuromuscular disease are one example of how rare diseases can help illuminate the future of medicine, demonstrating how precision science, patient partnership, and sustained investment can transform lives. The challenge, and the opportunity, is to now ensure that this momentum continues and reaches every rare disease patient, no matter how rare their condition may be.

For more information, support, and guidance for people diagnosed with a neuromuscular condition, please contact the MDA Resource Center.

To learn more on research developments, the 2026 MDA Clinical & Scientific Conference, held March 8-11, 2026, will explore the latest research and clinical advancements for neuromuscular disease in the era of treatments. For additional information and to register, click here.

Source links:

• https://www.mda.org/care/mda-resource-center
• https://www.mda.org/get-involved/advocacy
• https://www.mda.org/press-releases/us-department-of-health-and-human-services-adds-duchenne-to-recommended-uniform-screening-panel
• https://www.mda.org/press-releases/mda-calls-fda-approval-of-novartis-itvisma-a-major-step-forward
• org/SupportNIH