Surgery and SMA

Treatment of spinal muscular atrophy (SMA) focuses on maintaining motor function, improving quality of life, and preventing complications. This usually includes physical therapy and nutritional support, as well as disease-modifying medicines.

Surgery may also be needed to prevent or treat certain complications. For example, spine surgery is common for the treatment of scoliosis (curvature of the spine). Other procedures can address breathing and feeding problems. Decisions to undergo surgery are based on a number of personal factors.

Spinal fusion

Back muscle weakness in SMA often leads to scoliosis. This is a curvature of the spine, usually forming an “S” shape. Nearly all children with SMA develop scoliosis at some point. Scoliosis worsens motor function and can lead to breathing problems.^1-3

Bracing can improve quality of life. However, it usually cannot delay or prevent scoliosis. Spinal surgery is the only way to slow or stop the progression of scoliosis. Surgery can improve balance, appearance, and range of motion. It is generally recommended because scoliosis usually worsens over time.^4,5

Spinal fusion is the most common spinal surgery procedure. In spinal fusion, 2 parts of the spine are fused together to keep them from moving. This prevents further growth of the spine. Rods, hooks, or screws may hold the spine together as the spine heals.^3,6,7

Spinal fusion is usually done in children over the age of 10. Other surgical options are available for younger children. Your doctor will suggest a surgical procedure depending on the severity of scoliosis, age, and other personal factors.^3,4

Nissen fundoplication

People with severe types of SMA may have serious gastroesophageal reflux disease (GERD, or acid reflux). Acid reflux happens when stomach contents come back into the esophagus. It increases the risk of inhaling stomach material into the lungs (aspiration). This can lead to serious breathing problems.^8-10

Nissen fundoplication is a surgery that makes it harder for material to travel back from the stomach. The top part of the stomach is wrapped around the lower part of the esophagus to tighten the muscle and prevent reflux.^4,8,11

This is often performed when a G-tube is placed. New techniques allow both procedures to be done at the same time.⁸

Tracheotomy

People with SMA often have difficulty breathing because of weak chest muscles. In severe types of SMA, people may need breathing support to get enough oxygen. If ventilation through a face mask is not enough support, a breathing tube may be needed. This can deliver oxygen directly to the lungs.⁹

A tracheostomy is a surgical procedure to create a small hole in the neck for a breathing tube. During the procedure, doctors will make a small cut at the front of the neck. They will expose the windpipe (trachea) and insert the breathing tube.¹²

Tracheostomies are usually safe procedures. But the decision to undergo it is complicated and personal. Some families want to support life as long as possible, while others prioritize reducing illness and providing comfort. Your doctor can suggest options based on clinical status and quality of life.⁹

Gastrostomy

People with SMA often cannot get enough nutrients because of difficulty swallowing and feeding. Feeding by mouth can be unsafe because of the risk of aspiration. Your doctor may suggest a feeding tube to make sure nutrient needs are safely met. Feeding tubes provide nutrition directly to the stomach.⁸

A commonly used feeding tube is called a gastrostomy tube (G-tube). A G-tube is surgically placed through the skin in a procedure called a gastrostomy. They are used as a longer-term solution to swallowing and feeding problems.¹³

Gastrostomies are most common in people with type 1 or 2 SMA. The surgery can be done soon after diagnosis when an infant is healthy.^7,14

Other surgical procedures

Other surgeries may address rarer complications of SMA. These procedures are usually only done in severe cases. For example, some other possible procedures include:^3,4,15

• Surgical stabilization to treat fractures
• Surgical management of joint contractures
• Procedures to treat problems causing urinary incontinence
• Hip surgery