New Advancements for Spinal Muscular Atrophy

By Jessica Still on August 10, 2016

Living with spinal muscular atrophy (SMA) means that even walking can be a serious challenge. Affecting around one out of every 10,000 newborns, SMA is one of the most common and deadly genetic disorders in the world. With no cure in sight, patients have few options to treat their severe and worsening symptoms — but there’s hope. Recent years have brought several technological advancements that may help provide a much greater quality of life for people with SMA, and some of those advancements are more than a little exciting.

Health care professionals in lab.

SMA Symptoms & Causes

Spinal muscular atrophy is a progressive disease that causes the death of the motor neurons that connect the brain and spinal cord. The gradual loss of these cells results in a mounting degeneration in nearly all of the muscles required for common daily activities. This includes simple activities like walking, sitting up, or even swallowing.

There are four types of SMA. With SMA type I and II, few affected live to see young adulthood. With SMA type III and IV, patients enjoy a normal lifespan, but still face worsening muscle weakness and a resulting risk of serious complications.

What makes SMA so insidious is the fact that it’s the result of a relatively common recessive gene. About one in 50 people carry the gene that can lead to SMA. If two people who both carry the gene have a child, there’s a 25% chance that child will suffer from SMA.

New Hope for SMA Patients

While we’re still a long way from curing SMA, there are a number of promising advancements in technology that we can look forward to nearly every year. Over the past few years, 3D printing has started to deliver on its promise of revolutionizing manufacturing, which has printed everything from artificial organs to new cars. Recently, a handful of engineers worked together to create a 3D printing blueprint for what they call an “Angel Arm Exoskeleton,,” helping one young girl to move around and keep up her strength in spite of her SMA.

Similar to the Angel Arm, the Spanish National Research Council (CSIC) recently constructed an exoskeleton designed to help children with SMA to overcome losses to their mobility. The joints of their device are designed to provide the wearer with the strength necessary to sit upright and walk, as well as adapt the exoskeleton to accommodate the specific weaknesses of the wearer.

New advances are also helping to increase the quality of life for those with SMA in ways never before imagined — specifically with regard to the arts. Playing an instrument requires a level of dexterity that can be increasingly difficult to maintain with SMA. But with the help of digital wizardry, it’s possible to play nearly any instrument on a desktop PC or a tablet. From drum kits to trumpets, composing and performing music can be made accessible to anyone with the strength to tap a tablet. Participating in the arts can enrich our lives, and one day, advancements like these will mean that even the muscle deterioration of SMA won’t be able to stand in the way of someone achieving their dreams.

It’s important to understand that devices like these don’t just improve someone’s quality of life; they’re also instrumental in preventing serious complications like scoliosis and osteoporosis, which are common with patients of muscular disease. While the current exoskeletons being constructed are designed for kids around the ages of 3 and 14, these designs are likely just the beginning of a new technology that could help with muscle atrophy treatment.