Breathing problems are the most common cause of illness for children with SMA.
In healthy individuals, the muscles between the ribs—called intercostal muscles—allow the chest to expand, filling the lungs with air. The diaphragm pulls the rib cage down, allowing the lungs to expand further. Individuals with 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 with SMA type I or type II typically need to be seen by a pulmonologist every 3-6 months, even if everything seems normal. Individuals with SMA type III may have less frequent visits.
- A plan 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
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. Bi-level positive airway pressure (BiPAP, pronounced “bye-pap”) 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 child’s neck, and inserts the tube directly into the trachea.
Many individuals with SMA type II or type III manage with non-invasive ventilation. They may use breathing support only during sleep or illness, or more frequently. They may also use special machines or exercises to assist in coughing.
Individuals with SMA type I need greater assistance with breathing. These decisions are made based on the child’s needs and on the course of care chosen. Parents should openly and honestly discuss their options with their doctor, as soon as possible after diagnosis.
- Aaron's Tracheostomy webpage
- Acute Respiratory Illness Care Guidelines
- A Young Man's Voice (Experience with a Tracheostomy)
- Books on Medical Information and Life with SMA
- Chest Physiotherapy in SMA
- Cough Assist Machine Health Facts
- Cure SMA: Breathing Basics Care Series Booklet
- Extubation Guidelines
- Every Breath You Take Part I
- Every Breath You Take Part II
- Hope and Life After Traching and Venting Letter
- In-Exsuffalators 101
- International Ventilators Users Network website
- Keeping your Lungs Healthy an SMA Presentation
- Masks Noninvasive Interfaces Article
- Medical Necessity for Cough Assist
- My Way is the Highway Article
- Neurological Disease Raises Risk of Complications
- Pediatric Trach Care
- Respiratory Care Choices Presentation
- Special Considerations in Respiratory Care Management
- Spinal Muscular Atrophy Type 1: Prolongation of Survival by Noninvasive Respiratory Aids (Bach 2009)
- University of Utah Respiratory Management website