Until recently, treatments for spinal muscular atrophy (SMA) could manage only symptoms. Doctors focused mostly on supporting breathing, eating, and mobility functions for people living with SMA.

Newer treatment options that slow disease progression are now available for most types of SMA. Depending on their age, form of SMA, and severity of symptoms, people with this rare disease may need different kinds of therapies throughout their lives.

Disease-Modifying Therapy for Spinal Muscular Atrophy

Nusinersen (Spinraza) was the first disease-modifying therapy (DMT) for SMA. Approved by the U.S. Food and Drug Administration (FDA) in 2016, nusinersen was followed by onasemnogene abeparvovec-xioi (Zolgensma) in 2019. A third DMT, risdiplam (Evrysdi), gained approval in 2020. Ongoing clinical trials are testing new treatments for SMA.

These three DMTs are types of SMA gene therapy. In people with SMA, the survival motor neuron 1 (SMN1) gene doesn’t produce enough functional SMN protein, which is critical to motor function. Onasemnogene is believed to work by providing cells with a full copy of the SMN1 gene. This drug is given as a one-time intravenous (IV) infusion and is approved for children under age 2 years.

Doctors and researchers believe nusinersen works by raising levels of SMN protein from the SMN2 gene, which acts like a backup gene to SMN1. The FDA approved nusinersen for people of all ages with SMA due to mutations (variations) in SMN1. Nusinersen is given as an intrathecal injection into the spinal fluid in the lower back once every four months after the first few loading doses.

Risdiplam, which is taken by mouth once daily at home, is believed to work by causing the SMN2 gene to produce more SMN protein. This drug is approved for anyone over 2 months of age, including those with later-onset SMA.

Possible side effects of both onasemnogene and nusinersen include abnormal bleeding and vomiting. Onasemnogene may lead to serious liver injury in some people. Nusinersen also may cause:

• Kidney problems
• Constipation
• Headache
• Fever
• Lower respiratory infections

Common side effects of risdiplam include diarrhea, vomiting, and rash. Risdiplam may also cause side effects such as upper respiratory infections and pneumonia in people who develop SMA as babies.

Respiratory Support

Some people with SMA have weakened respiratory (breathing) muscles. Breathing issues are the most common cause of illness among children with SMA. Respiratory complications are also the most common cause of death for children with SMA type 1 (Werdnig–Hoffmann disease) and SMA type 2.

Ventilation assistance helps people with SMA who have breathing problems live longer, healthier lives. Both noninvasive and invasive ventilation systems are available.

Noninvasive Ventilation

Many doctors suggest starting with noninvasive ventilation support. Noninvasive ventilation devices use masks or mouthpieces connected to machines that deliver air under pressure. The air may or may not contain extra oxygen. The device can be removed for talking, eating, and drinking.

One example of noninvasive ventilation is a bilevel-positive airway pressure (BiPAP) machine. People with SMA may use BiPAP for breathing support when sleeping or if they’re sick.

A specialized mouthpiece called a sipper vent makes it easier to talk and breathe at the same time. People with SMA use a sipper vent when sitting in a wheelchair.

Invasive Ventilation

If noninvasive ventilation isn’t working well, your doctor may recommend invasive ventilation, which is placed inside the body. For example, an endotracheal tube goes through the mouth and runs down the trachea (windpipe). An endotracheal tube may be used for a few days or weeks before causing irritation.

If you need invasive ventilation support for an extended period, your doctor may recommend creating a tracheostomy — a small, surgical hole in the throat. The doctor can then put a breathing tube directly into the trachea. Many people with a tracheostomy can learn to eat, drink, and talk normally.

Some people with SMA have scoliosis (an abnormal curve in the spine). This condition can keep the lungs from developing properly, affecting breathing. Doctors may recommend surgery to implant a vertical expandable prosthetic titanium rib (VEPTR). The device attaches the ribs to either the spine or hips to straighten the spine and separate the ribs. The VEPTR is usually implanted before age 5 and expands as a child grows.

Respiratory Therapy

Weak respiratory muscles make it difficult for people with SMA to cough and clear mucus from their lungs. Many forms of respiratory therapy can help with this issue.

Chest physiotherapy involves gently clapping on the chest wall to loosen mucus. You can also use a vibrating device. Postural drainage involves positioning yourself or your child on an incline, head lowered, to use gravity to help mucus drain from the lungs.

An insufflator-exsufflator device puts pressure on the airway to create a coughing effect. One example is the CoughAssist. A high-frequency chest wall oscillation device also helps move mucus. A vest, such as the InCourage System, creates “mini coughs” that shift mucus out of the small airways in the lungs.

Feeding Support

In some people with SMA, the muscles used to chew and swallow become weak. Eating becomes harder and raises the risk of aspiration (inhaling food particles into the lungs). A feeding tube system that bypasses the mouth and esophagus may become necessary.

Many types of feeding tubes can help with swallowing difficulties. A gastrostomy tube (G-tube) is one of the most common types. A G-tube is placed surgically through the skin and into the stomach. A nasogastric tube goes through the nose and down to the stomach.

Liquid nutrition for tube feedings may be purchased commercially or made at home. People with feeding tubes may still eat by mouth for pleasure. Be sure to check with a doctor to make sure this is safe.

SMA Therapies

A speech–language pathologist (SLP) can help a person with SMA overcome problems with speech and swallowing. SMA can weaken muscles in the throat, tongue, and respiratory system. An SLP may teach strategies for safer swallowing and conserving breath when speaking, as well as how to use adaptive language techniques for better communication.

Physical therapy (PT) can help people with SMA move better and become stronger. Physical therapists start with an evaluation to figure out goals and needs. A PT plan for SMA may include:

• Building strength through exercises
• Learning new ways to conserve energy
• Preventing falls and injuries
• Getting the best use out of mobility aids, like wheelchairs or walkers

For people with severe SMA, PT can help determine better bracing to manage and reduce the likelihood of contractures (permanent shortening of a muscle or joint). Physical therapists also teach exercises to improve range of motion. Children with SMA can use PT to set and work toward goals for better movement. Over time, they can gain more independence and improve their quality of life.

Occupational therapy focuses on increasing independence in daily activities at home, at work, or in school. For example, occupational therapists teach people with SMA better ways to move around, get dressed, or feed themselves.

Treatment for Scoliosis

Nearly all children with SMA develop scoliosis, which can be treated in many ways. Some doctors recommend using back braces to prevent the progression of scoliosis and delay surgery.

In most cases, scoliosis gets worse over time. If left untreated, the condition can lead to breathing and mobility problems. Doctors typically recommend surgery after age 10, when children have finished growing.

Surgery for scoliosis includes spinal fusion and implanting growing rods or a VEPTR device. Doctors may recommend a combination of these approaches to best address scoliosis.

Other Treatments for SMA

People with SMA may benefit from other forms of treatment, including:

• Certain diets
• Exercise
• Immunizations
• Complementary and alternative treatments

Nutrition

No specific diet is recommended for everyone with SMA. There’s also no evidence that any diet can help treat SMA.

People with SMA generally need fewer calories because their limited movement leads to lower muscle mass. Doctors and researchers with Cure SMA recommend a diet rich in:

• Protein to help maintain muscle mass
• Healthy fats that provide needed fatty acids
• Complex carbs such as brown rice and whole grains
• Plenty of fruits and vegetables

Some doctors recommend that people with SMA take nutritional supplements such as creatine or coenzyme Q10.

It’s crucial for babies and small children with SMA to get enough nutrients and calories for brain growth and development. A nutritionist familiar with SMA can help by creating an eating plan that adapts as your child grows.

People with SMA should eat frequent smaller meals instead of a few large ones. This is especially true for those who have trouble chewing or swallowing. Changing a food’s consistency can make eating easier and lower the risk of aspiration.

Older children and adults with SMA may need to watch how many calories they take in. SMA makes it difficult to exercise, which can lead to unwanted weight gain.

Always talk with your doctor before making dietary changes. Some special diets may be harmful for a person with SMA. For example, certain nutritional supplements may cause dangerous interactions with medications.

Exercise

Physicians have different opinions on the role of exercise for people with SMA. Most doctors recommend exercising to your comfort level and tolerance. Exercise may:

• Help protect your joints from injury
• Preserve your range of motion
• Support healthy blood circulation

However, some doctors worry that too much exercise may lead to muscle loss in SMA. More research is needed to better understand how much physical activity is beneficial in SMA.

Immunizations

People with SMA are at an especially high risk of respiratory infections. Doctors recommend getting a flu vaccination each year to help avoid infection. This is because neuromuscular disorders, including SMA, weaken breathing muscles, making it harder to breathe, cough, and recover from infections. People with SMA should also ask their doctor about the need for other vaccines, such as those for COVID-19, pneumococcal disease, and respiratory syncytial virus (RSV).

Natural or Alternative Treatments for SMA

It’s highly unlikely that any natural or alternative treatment will effectively treat SMA. Most complementary or alternative treatments haven’t been studied in clinical trials to determine their safety. However, some complementary treatments may help provide relief from SMA symptoms such as fatigue, muscle pain, or joint contractures. Some people with SMA report feeling better after undergoing massage or acupuncture.

If you’re thinking of trying an alternative treatment for SMA, make sure the practitioner is familiar with your condition. Be sure to discuss any natural treatments with your doctor in advance. For example, herbal supplements or homeopathic products could interact with your current treatments. Working closely with your health care team can help ensure that any additional therapies support, rather than complicate, your SMA treatment plan​​​.

Find Your Team

On mySMAteam, the social network for people with spinal muscular atrophy and their loved ones, more than 2,600 members come together to ask questions, give advice, and share their stories with others who understand life with SMA.

Have you or a loved one been diagnosed with SMA? What medical treatments and lifestyle approaches are you using to manage the condition? Share your experience in the comments below, or start a conversation by posting on your Activities page.