Managing spinal muscular atrophy symptoms

Breathing, nutritional, and physical therapies can help ease SMA symptoms.

Every person is affected differently by spinal muscular atrophy (SMA) — a group of diseases that damages nerve cells in the spinal cord. However, SMA most often affects a person's ability to swallow, eat, breathe, sit and walk.

Newer treatments help treat the condition itself, and are especially helpful when started before symptoms begin. When symptoms have already begun, ongoing, supportive care and therapies — particularly when started early — can help manage symptoms, prevent complications, improve quality of life and help a person live longer. This usually involves working with experts in a variety of specialties.

Common supportive care options

Depending on how spinal muscular atrophy affects a person, supportive care to manage symptoms may include:

  • Breathing assistance. Weak breathing muscles in the neck, throat and chest can make breathing difficult, especially at night. Weak muscles can also make it tough to cough and clear out mucus from the lungs. This can interfere with breathing and increase the risk of infections. Breathing problems cause most of the illnesses and deaths in children who have SMA types I or II. As a child gets older, curving of the spine (scoliosis) can add to breathing difficulty, too.

    A number of noninvasive devices can make breathing easier, including cough-assist machines, suction equipment and masks that deliver air to hold a person's airways open. Breathing assistance devices can improve quality of life and significantly help children with SMA types I and II live longer.

    If noninvasive devices are no longer enough breathing support, invasive devices are an option to discuss with a doctor. A machine called a mechanical ventilator can be programmed to deliver air through a tube. The tube is inserted down the windpipe through the mouth or nose or into a surgical hole in the windpipe and neck (tracheostomy).

  • Eating and nutritional support. SMA can lead to weak muscles in the mouth and throat, making swallowing and sucking difficult. This can cause people to inhale food into their lungs (aspiration), leading to serious infections. SMA can also cause food to come back up the food pipe (esophagus). Since SMA slows down the digestion process, this often causes constipation, especially in people who can't sit or stand.

    Nutritional counseling and support may come from specialists who provide information on how to prepare food to prevent aspiration. Therapies to improve speech, chewing and swallowing also can help. Sometimes surgery is needed to insert a feeding tube into the stomach through the abdomen. This tube delivers a liquid containing essential nutrition and calories.

    Children and adults with SMA may also struggle with being overweight, possibly because they aren't able to be as active. A doctor or nutritionist can provide guidance on how to maintain a healthy weight.

  • Physical, occupational and rehabilitation therapies. Therapies like stretching and strengthening may help improve or maintain posture, joint range of motion, and blood flow, as well as slow muscle weakness. Devices like supports, braces, orthotics and wheelchairs can help preserve independence.

    Spinal braces slow curving of the spine (scoliosis) due to muscle weakness. But they may affect breathing, especially in children who have SMA types I or II, so they aren't right for everyone. Surgery to straighten the spine may be an option for some people with SMA.

    Technologies also exist to help a person with daily tasks like using a computer or phone, writing, and adjusting the lights, room temperature or television.

Your care team

Ongoing, supportive care is usually provided by a variety of specialties (multidisciplinary). For example, your care team may include:

  • Pediatric neurologists
  • Medical geneticists
  • Sleep medicine experts
  • Orthopedists
  • Gastrointestinal experts
  • Physical, occupational and rehabilitation therapists
  • Nutritionists
  • Pain medicine specialists

A variety of treatments and specialists can help manage physical symptoms and improve a person's length and quality of life. SMA does not affect the brain or brain development, so it's important for children and adults to participate in social, emotional, physical and academic activities to ensure well-being.

Sept. 23, 2020