Breathing problems are the most common cause of illness for adults and children with SMA.
In healthy individuals, the muscles between the ribs—called intercostal muscles—allow the chest to expand and fill the lungs with air. The diaphragm pulls the rib cage down, allowing the lungs to expand further. Individuals with spinal muscular atrophy (SMA) have very weak intercostal muscles, which compromises this normal breathing rhythm. This can result in:
Weak and underdeveloped lungs.
- A weak cough.
- Severe risk from viral respiratory infections, even infections that only cause minor illness for healthy individuals.
- Increased risk of pneumonia.
- Aspiration of food or drink.
- Hypoventilation, or shallow breathing, especially during sleep.
It is important to visit a pulmonologist (a doctor who specializes in respiratory care) soon after an SMA diagnosis. The pulmonologist will evaluate your child, establish a baseline for future testing, and create a proactive plan. This plan may include:
A schedule for continued assessment and monitoring. Children and adults with SMA Types 1 or 2 may need to be seen by a pulmonologist every 3-6 months, even if everything seems normal. Individuals with SMA Type 3 may have less frequent visits.
Ways to assist with coughing, airway clearance, and removal of mucus and other secretions.
A system to measure and maintain oxygen levels in the blood.
Guidelines for care during certain situations, including sleep, illness, and preparation for (or recovery from) surgery.
Breathing support, also called ventilation (see information box to right).
What is Ventilation?
The choice of breathing support can be invasive or non-invasive. This can be a complicated and difficult decision.
- Non-invasive ventilation is breathing support delivered through a mask over the nose, or nose and mouth. BiPAP (see below) is a common form of non-invasive ventilation.
- Invasive ventilation is breathing support delivered through a tube that goes inside the body. An endotracheal tube, which is inserted through the mouth, is one form of invasive ventilation. For long-term invasive ventilation, a tracheostomy tube is usually required. During a surgical procedure, the doctor makes a small incision in the individual’s neck, and inserts the tube directly into the trachea.
Many individuals with SMA Types 2 or 3 manage with non-invasive ventilation. They may use breathing support only during sleep or illness, or more often.
Individuals with SMA Type 1 may need greater assistance with breathing. These decisions are made based on the individual’s needs and on the course of care chosen. Parents should openly discuss their options with their doctor, as soon as possible after diagnosis.
Individuals with SMA often require a range of specialized medical equipment. This equipment can be used to aid in breathing, coughing, and swallowing. The following is a list of equipment that has proven beneficial for many people with SMA. Please note that this is not a comprehensive list, and you or your child may not benefit from all of the items described here.
Note: this list is not a substitute for professional, personalized advisement from a physician or other healthcare provider. Be sure to speak with your healthcare provider—and, in many cases, your insurance company—before making any decisions on medical equipment.
- Bi-level Positive Airway Pressure (BiPAP): The BiPAP machine (pronounced “bye-pap”) provides two levels of positive airway pressure delivered through a mask over the nose, or over the nose and mouth, or through a tube under the nose and into the nostrils. It provides higher pressure and an increased volume of air when the user inhales. When the individual exhales, the machine lowers its pressure automatically. A BiPAP machine can sense a person’s normal breathing cycle and work with it. The machine also gives breaths when the individual is in deep sleep and is not breathing adequately. Continuous positive airway pressure (CPAP) is a different type of setting that gives one continuous level of pressure. This may not provide adequate rest for breathing muscles, and is not recommended for individuals with SMA.
- Cough Assist: A cough machine forces air into the lungs at a preset pressure and then sucks the air out of the lungs at a preset pressure. This action can help produce a more effective cough, which maintains airway clearance.
- E-Z-ON Modified Vests: An E-Z-ON modified vest is used for transporting children with SMA type 1 once they outgrow the car bed. This modified vest buckles into the back seat of a car and allows the child to lay flat across the back seat during transport.
- Pulse Oximeter: A pulse oximeter is used to check blood oxygen levels. Measurements of pulse oximetry (the amount of oxygen in the blood) can be performed with a simple, lightweight clamp or Band-Aid-like wrap on the finger or toe. The pulse oximeter alerts you to problems, or if the individual needs help with coughing. Children with SMA need extra breathing support when their oxygen saturation level drops too low.