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Understanding Myotubular Myopathy (MTM)
Myotubular myopathy (MTM) is a rare and serious hereditary muscle disorder. It is also called X-linked myotubular myopathy (XLMTM) because it is passed down through a mutated gene on the X chromosome, so it mostly affects boys. If girls are affected, the condition is typically much less severe. Perry Shieh, MD, PhD People with MTM…
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How to Find an Accessible Obstetrician-Gynecologist (OB/GYN)
Routine care from an obstetrician-gynecologist (OB/GYN) is essential for every woman’s health. They provide services throughout a woman’s lifetime, ranging from managing menstrual and menopause symptoms to family planning and cervical cancer screenings. But the difficulty of finding an accessible OB/GYN causes many women to avoid this important care. “Whether or not a person wants…
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How Proteomics Could Solve Puzzling Neuromuscular Diagnoses
For people living with rare diseases, finding a diagnosis can sometimes feel like solving a puzzle with missing pieces. Over the past two decades, advances in genetic testing have transformed that puzzle for hundreds of people living with inherited conditions. Genomics — the study of our genetic code — has reduced uncertainty and opened doors…
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MDA Ambassador Guest Blog: Building Confidence in the Classroom
Madison Helaire is an 18-year-old, upcoming nursing major from Baton Rouge, Louisiana. Madison has congenital muscular dystrophy and enjoys reading and baking for fun. As a teenage girl living with a disability like congenital muscular dystrophy (CMD), life can be rather hard. I will be a freshman in college this August, and throughout my years…
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Biotech raises $90M for late-stage testing of FSHD treatment
Epicrispr Biotechnologies has raised $90 million in financing to support late-stage clinical testing of EPI-321, the company’s epigenetic treatment candidate for facioscapulohumeral muscular dystrophy (FSHD). “This financing marks a pivotal milestone for Epicrispr as we advance EPI-321 and the next generation of programmable epigenetic medicines,” Amber Salzman, PhD, CEO of Epicrispr, said in a company…
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Safety is a key component of accessibility in public transportation
Last year, our family’s wheelchair-accessible van broke down due to a fault in its hydraulic ramp. From March to May 2025, my caregiver and I had no choice but to take the bus to my office. It was the first time I’d used public transportation in a decade. Back then, I didn’t need a ventilator…
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How One Physical Therapist is Expanding Duchenne Physical Therapy Training in India
When a child is diagnosed with Duchenne muscular dystrophy, one of the most important parts of care is having a healthcare team that understands the disease. Physical therapy plays an essential role in helping people living with Duchenne muscular dystrophy maintain mobility, reduce complications, and improve quality of life. But because Duchenne is a rare disease, many physical therapists never…
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Parent Project Muscular Dystrophy
The post Parent Project Muscular Dystrophy appeared first on Muscular Dystrophy News.
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FDA OKs expansion of DMD stem cell trial, allows 30 more boys
The U.S. Food and Drug Administration (FDA) has allowed the enrollment of up to 30 additional boys with Duchenne muscular dystrophy (DMD) in a clinical study testing an experimental stem cell therapy. The Phase 2 trial (NCT06579352) testing the treatment from Signature Biologics has enrolled five boys, ages 5 to 10, at two sites in…
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Building a Stronger Therapeutic Pipeline for Duchenne
CureDuchenne was founded 25 years ago, and during that time we have witnessed and participated in the approval of multiple FDA-approved therapies, dozens of clinical trials, and an expanding pipeline of investigational treatments. But there is still no cure for Duchenne, and important challenges remain to be solved. For families living with Duchenne, every scientific breakthrough brings hope, and every clinical trial represents another possibility. Real progress requires the combined efforts of researchers,…
