Technology

New Research Channels for Myotonia Congenita

Myotonia congenita is an inherited myopathy that prevents affected individuals from relaxing certain muscles after contracting them. The disorder causes muscle stiffness but not atrophy or shrinkage. On the contrary, it often leads to larger, stronger muscles.There are two types of myotonia congenita: Becker disease and Thomsen disease. The Becker type is inherited as an autosomal recessive trait, meaning it is produced when both parents contribute a defective gene. Becker is the more common and more severe form of the disease. It generally shows up between ages 4 and 12, though in rare cases it may occur as late as age 18. Symptoms tend to worsen over time.

The Way of the Future

As the novel coronavirus pandemic has called for vigilance in health safety measures such as social distancing — especially for people with neuromuscular disease who are at higher risk for severe illness related to COVID-19 — many of us have had to rethink how we do what we need to do. We’ve adjusted how we see our families and friends, how we get food and medicine, and how we continue care with therapists and physicians who, themselves, may work in high-risk locations.

Expanding Access to Genetic Testing

Genetic testing plays an important role in diagnosing, treating, and managing neuromuscular disease. “Genetic testing can shorten the time to diagnosis and prevent misdiagnosis of muscular dystrophies,” says Robert Nussbaum, MD, chief medical officer of Invitae, a leader in advanced medical genetics. “An earlier, accurate diagnosis can facilitate earlier interventions, alert physicians about potential complications, allow genetic counseling of family members, and support clinical research into neuromuscular diseases.”

Game On!

On March 21, MDA launched Game Night, a weekly Saturday night event designed to gather online gamers and families for regular connection (and a little healthy competition).It couldn’t have been better timed.MDA began developing its online gaming platform, MDA Let’s Play, in 2019. The idea was simple: connect the online gaming community and the MDA community — which already overlap — to grow a new network of support. And now, as families have found themselves practicing social distancing from friends, neighbors, and family, there’s no better time to go online for a bit of fun together in support of MDA’s cause — and maybe to build the most amazing Minecraft village in history while they’re at it.

Pompe Disease Treatment Is Moving Forward

Pompe disease (also called acid maltase deficiency) is a rare, inherited glycogen storage disease that affects the muscles, particularly the heart and skeletal muscles. It results from mutations in a gene that carries instructions to make the enzyme acid alpha-glucosidase (GAA), also called acid maltase, which plays a role in the body’s ability to process and break down complex sugars (glycogen). With insufficient GAA, glycogen builds up in and damages muscle cells.

More Than a Game

A typical weekend day for me starts off with my partner or caregiver feeding me breakfast (Cheerios with milk on the side) and ends with me falling asleep to an episode of “Cutthroat Kitchen.” In between these moments, I game with friends from all over the country. Gaming has been part of my life since the 1980s. I grew up playing on all the major gaming systems and had a constant slew of competitors in my brother and neighborhood friends. But as congenital muscular dystrophy (CMD) affected my body over the years, and as game controllers became more complex, I started having trouble keeping up with my peers.

Facebook, Friends and Fundraising

When Ethan Och decided to host a Facebook fundraiser for his 21st birthday last year, there was no question of what organization he was going to support.“What came to mind above all other things was MDA because they’ve helped me do cool things over the years,” he says. Diagnosed with spinal muscular atrophy (SMA) when he was 1 year old, Och fondly remembers the time he spent at MDA Summer Camp during his childhood. In addition, MDA assisted his family in getting vital pieces of medical equipment, as well as offering priceless support and education over the years.

How Drugs Are Developed

Have you ever wondered what has to happen for the scientific community and pharmaceutical industry to develop a new drug and get it on the market, where physicians can prescribe it to treat a neuromuscular disease? Estimates vary, but it’s safe to say that, on average, out of 10,000 experimental compounds, one drug may make it to pharmacy shelves, and it will take at least 10 years and more than $1 billion to get it there.

Voice Banking Offers the Promise of a Natural Voice

A strong voice was the foundation of Penny Abreo’s job as a first-grade reading teacher in Houma, La. But when she heard her words slurring and experienced unexplained fatigue and hand cramps, she and her husband, Aaron, sought medical advice.At 41, Penny learned she had ALS. Also known as Lou Gehrig’s disease or motor neuron disease, ALS affects nerve cells in the brain and spinal cord that control voluntary muscle movement such as speaking, walking and other life functions. As the cells stop working, so do the muscles used to do such activities.

Creative Control

“I believe that if you are laughing, you are living.” This is 34-year-old Jared Aronson’s mantra. And he’s not particular about what deserves a good guffaw. He’ll laugh out loud over a clever play on words, a ridiculous Twitter post or even a temporary misfire as he masterminds yet another invention. Inventing is what fuels Aronson’s mojo. “I love problem-solving,” he says.

MDA Resource Center: We’re Here For You

Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA services are only available in the U.S.

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