Thymidine kinase 2 deficiency (TK2d) is a rare and life-threatening genetic condition and a type of mitochondrial disease. It stems from mutations in the TK2 gene, which is essential for the replication of mitochondrial DNA (mtDNA). These mutations lead to a depletion of mtDNA, resulting in profound muscle weakness and various systemic complications.
According to DelveInsight’s analysis, there were nearly 1,200 prevalent cases of TK2d across the 7MM in 2024. This number is projected to increase over the 2025–2034 forecast period, driven by improvements in genetic diagnostics and expanded access to healthcare.
Among the different phenotypes, infantile-onset myopa...
