Thymidine kinase 2–deficient myopathy: deoxynucleoside therapy

Takeaway

  • Treatment with deoxynucleoside monophosphate and deoxynucleoside therapies in thymidine kinase 2 (TK2)-deficient patients provided clinically notable benefit, especially in the infantile and childhood onset forms of the disease.

Why this matters

    TK2 mutations cause depletion and deletions of mitochondrial DNA manifesting predominantly as a childhood progressive myopathy; treatment with deoxynucleoside monophosphate and deoxynucleoside therapies may increase survival and ameliorate muscle weakness in patients with early onset severe myopathy.