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Simply Stated: Understanding Myotonia Congenita
Myotonia congenita (MC) is a rare, inherited neuromuscular condition characterized by muscle stiffness (myotonia) present during infancy or childhood. Unlike some other neuromuscular disorders, MC does not cause progressive muscle loss (atrophy). So, while people with MC often appear muscular, they may struggle with everyday movements. It has been estimated that MC affects approximately 1…
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The unbearable weight of grief that smoothes the jagged edges
I type my columns on Tuesdays, but I write them in my head in the days before. I consider what to write, how to begin, and the words to use to share my life experiences. My family is fun, and my columns often reflect that, to show the lessons I’ve learned and the positivity I…
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New analysis tracks Elevidys outcomes 3 years after treatment
Three years after receiving the gene therapy Elevidys (delandistrogene moxeparvovec-rokl) in a clinical trial, boys with Duchenne muscular dystrophy (DMD) are showing sustained improvements in physical function compared with what would be expected without treatment, according to new data announced by Sarepta Therapeutics, Elevidys’ developer. “ELEVIDYS is the first gene therapy for Duchenne to show…
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I define my story, even when Duchenne rewrites the script
I’ve often written about learning to live alongside uncertainty. Duchenne muscular dystrophy has a way of quietly shaping plans, then loudly interrupting them. Last July, that disruption arrived as burnout during rehearsals for my graduating showcase at BEYOND DIS:PLAY, a performing arts training program in Singapore for disabled artists at ART:DIS, the country’s leading arts…
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Still playing my tune with a little help from my friends
In my previous column, I shared my concern about losing more strength due to the progression of my facioscapulohumeral muscular dystrophy (FSHD). This loss was making it increasingly difficult for me to get out of my friend Richard’s Subaru. Richard, who is also a musician, not only drives me to many of my musical performances…
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PPMD Joins Collaborative Research Effort to Decode How Human Muscle Regenerates
PPMD is proud to partner with the Muscular Dystrophy Association (MDA), the FSHD Society, and the LGMD2L Foundation on a new, collaborative research grant focused on one of the most fundamental — and still unanswered — questions in neuromuscular disease: how human muscle regenerates, and how the process differs in Duchenne muscular dystrophy, facioscapulohumeral muscular…
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Making the Impossible Possible: One Man’s Journey on the Camino de Santiago de Compostela
Kurt Aguilar and his wife, Cathryn Domrose, in Vigo, Spain, before starting on the Camino de Santiago de Compostela. (Photo by Rebecca Taggart) Every year, hundreds of thousands of people embark on a challenging journey to traverse the Camino de Santiago de Compostela, traveling days and weeks on foot to arrive in Santiago, Spain. The…
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Advocates say 2026 will be ‘an exciting time’ for DMD community
For people with Duchenne muscular dystrophy (DMD), 2026 promises to be a year of tremendous excitement, with several new therapies poised for likely approval in the U.S., according to DMD advocates. “It’s an exciting time,” Debra Miller, founder CEO of CureDuchenne, said in an interview with Muscular Dystrophy News Today. “A lot of hard work…
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Sarepta reports positive 3-year data from the EMBARK trial: 4-7 year olds treated with their microdystrophin gene therapy, Elevidys, have significantly slower disease progression
Sarepta Therapeutics announced positive topline data from the EMBARK trial, showing that Elevidys, 3 years post treatment, significantly slows disease progression on functional measures in ambulatory individuals who were 4-7 years old when treated. These 52 treated individuals, who participated in Part 1 of EMBARK and now are at a mean age of 9 years…
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Sarepta Shares Topline Three-Year EMBARK Data for ELEVIDYS in Ambulatory Duchenne Patients
Sarepta Therapeutics, Inc. has announced positive topline three-year functional results from Part 1-treated patients in EMBARK, the company’s global, randomized placebo-controlled Phase 3 study evaluating ELEVIDYS (delandistrogene moxeparvovec-rokl) in ambulatory individuals living with Duchenne. According to Sarepta, participants were aged four to seven at time of treatment and were on average over nine years old…
