Gastric reflux, in which stomach contents flow back up the esophagus, is a common symptom of spinal muscular atrophy (SMA), especially with more severe types of SMA. Frequent reflux can lead to gastroesophageal reflux disease (GERD), a chronic version of gastric reflux.
GERD has telltale signs, such as:
Besides causing discomfort, acid reflux also raises the risk of aspiration, or accidentally inhaling acid into the lungs. This is an extra concern for people with severe SMA, who have weakened respiratory muscles. Aspiration can lead to problems such as infection and pneumonia.
To help avoid discomfort and potential complications, it helps to understand gastric reflux in SMA and your options for managing it.
SMA is a neuromuscular disease usually caused by mutations of two survival motor neuron (SMN) genes: the SMN1 gene and the SMN2 gene. These genes contain the blueprints for the SMN protein in your body, which keeps your nerves healthy. In SMA, these gene mutations affect the nerves that control muscles. Affected muscles can control both voluntary and involuntary motor function, such as the movements required for digestion.
Proper digestion of food starts with being able to chew and swallow food, followed by the motility (movement) of your stomach and intestines. Each of these steps may be affected by muscle weakness in SMA, which can lead to reflux and regurgitation.
Structural abnormalities can also contribute to reflux. People with SMA often develop curved spines (scoliosis). Scoliosis can put stress on the stomach and gastrointestinal organs, which can interfere with digestion and further worsen reflux.
In other people, SMA-related constipation may lead to poor digestion and reflux.
Depending on your case, possible solutions for managing reflux may range from posture correction to antacids to surgery. Work with your doctor to find the right option for you.
Proper positioning and posture can help prevent the backflow of gastric contents. People with SMA should sit upright when eating and shortly after.
It may help to eat smaller portions throughout the day rather than large portions at mealtimes. Be careful what you’re eating, too: Certain foods may aggravate reflux more than others. Try to limit fatty, spicy, and acidic foods.
Over-the-counter antacids such as Tums or Rolaids (calcium carbonate) or Mylanta or Maalox (magnesium) can help neutralize stomach acid. Other medications, like Pepcid (famotidine) and Prilosec (omeprazole), can help decrease acid production.
People with SMA who are not able to keep food down may require feeding tubes. These tubes bypass the muscles involved in swallowing to deliver food directly to the stomach.
There are two main types of feeding tubes. Nasogastric tubes are placed into the nose, down the esophagus, and into the stomach without requiring surgery. An X-ray is usually taken afterward to confirm that the tube is in the right place. Gastrostomy tube placement involves a surgical procedure to place the tube into the stomach through the skin over the abdomen. Gastronomy tubes are sometimes called percutaneous endoscopic gastrostomy tubes, or PEGs.
Surgical operations may sometimes be used for severe forms of SMA-related GERD. One of the most common of these procedures is the Nissen fundoplication. A fundoplication involves narrowing the opening of the esophagus to the stomach to prevent stomach acid from splashing back up. The surgery can be performed using a technique called laparoscopic surgery, which is less invasive then traditional open surgery.
Surgery to address scoliosis may also help improve symptoms of GERD.
Because reflux can lead to aspiration and related lung issues, noninvasive ventilation (such as breathing masks or nasal cannulas) can sometimes be used to provide enough oxygen if aspiration and lung-related symptoms arise.
Managing a rare condition like SMA can be isolating, so it can help to have the support of others who understand your experience. On mySMAteam, the social network for people with SMA and their loved ones, members come together to ask questions, give advice, and share their stories with others who understand life with spinal muscular atrophy.
How have you managed gastric reflux in SMA? Share your experience in the comments below, or start a conversation by posting on mySMAteam.