First organoid model for neuromuscular condition reveals potential cure
Scientists have developed the first human disease model for Fukuyama congenital muscular dystrophy using stem cells derived from a patient.
Fukuyama congenital muscular dystrophy (FCMD) is a neuromuscular disorder resulting from a mutation in the α-dystroglycan protein, which is responsible for muscle integrity. Fetuses suffering a lack of glycosylation as a result of this protein mutation develop severe muscular dystrophy, intellectual disability, seizures and insomnia. The life expectancy for those with FCMD is low, with patients seldom surviving into their 20s.