Spinal Muscular Atrophy

Signs and Symptoms
Diagnosis
Treatment

Treatment

Patients with spinal muscular atrophy (SMA) require ongoing, specialized care from our team of experts, including neurologists, orthopedists, pulmonologists and surgeons. Although there is no cure for the disease, its symptoms and complications can be successfully managed to help improve a patient's quality of life. Several medications are being studied for this disease. Treatments may include:

• Medications

  Riluzole blocks certain proteins in the central nervous system that may cause damage to nerve cells. This drug is prescribed for adults with amyotrophic lateral sclerosis (ALS), also called Lou Gerhig's disease, which is similar to SMA. Preliminary studies have suggested a benefit for some children with SMA, but doctors believe that more studies must be completed before the benefits for children are confirmed.

  Hydroxyurea, a chemotherapeutic agent, and valproic acid, also known by the brand name Depakote, are being studied for possible benefits in children with SMA. Due to potentially serious side effects, it is recommended that you discuss these medications with a specialist before they're given to your child.

• Nutrition

  Children with type I and some with type II SMA have special nutrtional needs because of chewing and swallowing problems. A special X-ray study, called a swallowing study and cine esophagram, may help determine the foods that are dangerous to your child. Our therapists will work with you and your child to ensure your child receives adequate nutrition. Children who are unable to swallow liquids and semi-solids may need a gastrostomy tube, which allows nourishing liquids to flow directly to the stomach. These tubes are inserted by a surgeon or gastroenterologist.

• Physical Therapy

  Muscle weakness in the legs and arms may cause a child to experience tightness in the joints, called contractures. Our physical therapists can teach your child special range-of-motion exercises to keep muscles as flexible and mobile as possible. Night splints on ankles and wrist also may help prevent contractures or joint tightness.

• Mobility Aids:

  Children with type I and type II SMA typically are unable to stand or walk independently and require an electric wheelchair for increased mobility. Many children can safely operate a wheelchair by age 2 or 3.

• Respiratory support:

  Children with SMA have a high risk of developing respiratory problems. Many respiratory support therapies are recommended to help prevent complications. Treatments may include:

  • Regular breathing exercises
  • Yearly immunizations to avoid preventable illnesses, such as influenza
  • Supplemental oxygen, usually delivered through a small nasal tube.
  • Breathing support therapies may be necessary when breathing muscles don't function properly. Devices such as "negative pressure" ventilators and external positive airway pressure support systems can help children breathe. Positive airway systems use a gently placed, but snug mask, to deliver air directly to the nostrils.

Reviewed by health care specialists at UCSF Children's Hospital.
Last updated August 15, 2007