Children with spinal muscular atrophy demonstrate a wide range of respiratory compromise3
Respiratory compromise in children with infantile-onset (consistent with Type I) spinal muscular atrophy may be differentiated into 3 categories3 :
- Infants ≤5 months of age who require both continuous ventilatory support and non-oral nutritional support
- Infants with ineffective cough who develop acute respiratory compromise during upper respiratory tract infections and require non-oral nutritional support before 24 months of age
- Infants who do not develop respiratory compromise or who do not require non-oral nutritional support until after 24 months of age (approximately 10% of all children with infantile-onset spinal muscular atrophy)
Ventilatory support provided in the home can range from noninvasive ventilation (e.g., nasal mask) to invasive ventilation (e.g., permanent airway, such as a tracheostomy tube)4
POTENTIAL BENEFITS |
CONSIDERATIONS |
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NON-INVASIVE VENTILATION (NIV) |
POTENTIAL BENEFITS
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CONSIDERATIONS
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COUGH ASSIST MACHINE (Insufflator-exsufflator) |
POTENTIAL BENEFITS
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CONSIDERATIONS
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TRACHEOSTOMY (Invasive ventilatory support requiring long-term airway) |
POTENTIAL BENEFITS
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CONSIDERATIONS
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References
1. Finkel RS, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197-207. 2. Spinal Muscular Atrophy Clinical Research Center. Physical/occupational therapy. http://columbiasma.org/pt-ot.html. Updated March 14, 2013. Accessed April 18, 2016. 3. Bach JR. The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy. Paediatr Resp Rev. 2008;9(1):45-50. 4. Schroth MK. Breathing basics: respiratory care for children with spinal muscular atrophy [patient booklet]. Libertyville; IL: Families of SMA; 2009.

The clinical spectrum of SMA is highly variable and requires comprehensive medical care involving multiple disciplines.1