Health Care

The Expanding Therapeutic Landscape for Myasthenia Gravis

Myasthenia gravis (MG) is an autoimmune disease that leads to muscle weakness. It affects about 14 to 20 out of every 100,000 people. The age of onset varies widely, but typically it is diagnosed in women in their 20s and 30s and men in their 60s or later. In about 10% to 15% of cases, MG begins in childhood.

Change for the Better

Stephanie Erbacher is a passionate advocate on behalf of her 12-year-old daughter, Rylie, who has spinal muscular atrophy (SMA). Her path to advocacy started when Rylie couldn’t swing at a local playground in Cedar Rapids, Iowa.“I pushed the parks department to put in an adaptive swing with back support and a solid harness in front,” Stephanie says. When park officials responded that an accessible playground might be built in more than a year, Stephanie pressed on, emailing the city manager and eventually talking to the superintendent of parks. “I let them know I had researched costs of the swing and was very motivated to work with the city to see how we could find a solution that would allow disabled children to have even just a single option to be included at the playground.”

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.”

MDA’s 2020 Advocacy Agenda Update

There’s no doubt that 2020 has not turned out the way anyone expected. The COVID-19 pandemic has caused all of us to rethink our plans, including MDA’s 2020 Advocacy agenda. Although our priorities have shifted to accommodate the new challenges presented by the pandemic, our commitment to ensuring lawmakers hear the voices of the neuromuscular disease (NMD) community remains steadfast, especially in these uncertain times.

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.

A Good Beginning: Newborn Screening

Early diagnosis and treatment for neuromuscular diseases that can be treated is crucial, as the disorders are progressive and, in many cases, fatal. Spinal muscular atrophy (SMA), for example, is the leading genetic cause of death in infants. While only a few years ago there were no disease-modifying therapies for SMA, today there are multiple lifesaving treatment options on the market.

The Importance of Genetic Testing

Kelly Berger, 31, of Cincinnati, spent most of her life chasing a diagnosis. When she was 3, her parents noticed that, although she reached physical milestones for her age, she did them in unusual ways. For example, to step up, she pushed off her thighs with her hands, and she preferred crawling on stairs to walking them. Her parents took her to a neurologist and, after bloodwork, an electromyography (EMG), and a muscle biopsy, she received a diagnosis of spinal muscular atrophy (SMA) type 3. That was in the early 1990s, when fewer types of neuromuscular disease were understood.

Outside the Lab

Michael Lo Sapio, father of Mikey, 7, and Reid, 5, proudly admits that he’s pushy. Both his boys live with Duchenne muscular dystrophy (DMD), which causes progressive muscle degeneration and weakness beginning in early childhood. People with DMD typically live to their late teens or early 20s.These facts are grim, but being pushy means not accepting the statistics without a fight. For Michael — and many people living with neuromuscular diseases — one way to push back on the numbers is by participating in research.

Guiding Treatment for Myotonic Dystrophy

Myotonic dystrophy (DM) is the most common form of muscular dystrophy in adults. This is a complex disease, affecting not just the muscles, but nearly every other organ system in the body. The signature manifestation is myotonia, an inability to consciously relax the muscles, coupled with progressive muscle weakness.

The Case for Newborn Screening

Newborn screening allows babies born with life-threatening diseases to be treated before they show any signs of disease, which can lead to improved outcomes and maybe even a life free of symptoms.As therapies for neuromuscular diseases progress through the clinical pipeline and get approved by the U.S. Food and Drug Administration (FDA), the importance of newborn screening is heightened. Currently, it is recommended that states screen for Pompe disease and spinal muscular atrophy (SMA), and a screening for Duchenne muscular dystrophy (DMD) could be on the horizon. But despite these advancements, some states face implementation challenges due to scientific, economic and operational considerations.

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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