MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES: P.315 Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Abstract

Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial diseases typically experience delays in diagnosis and treatment: 48% of patients in a recent survey in North America reported consulting ≥6 physicians before diagnosis. Here, we describe a unique collaboration among physicians and scientists in Spain focused on mitochondrial depletion disorders.