A natural history study carried out over one and a half years in 11 people with SELENON-related congenital muscular dystrophy (CMD) and 26 with LAMA2 revealed respiratory impairment in both diseases.
- Respiratory function is more impaired in SELENON-related CMD than in LAMA2-related CMD, with more frequent mechanical ventilation and more severe diaphragm dysfunction.
- Spirometry and respiratory muscle strength tests could be useful assessment tools for future natural history studies or clinical trials, as early as 5 years of age.
