Caterina Garone, MD, PhD - From Clinical Clues to a Confirmatory Diagnosis: Recognising Thymidine Kinase 2 Deficiency Across the Age Spectrum

For the complete activity, including supporting material, please visit https://www.peervoice.com/KCZ860. Presented by Caterina Garone, MD, PhD and Noemi Speroni. Learning Objectives: Describe the pathophysiological basis and clinical spectrum of thymidine kinase 2 (TK2) deficiency to support earlier recognition in undiagnosed patients; Summarise the key steps in diagnosing TK2 deficiency, including when to use genetic and enzyme testing; Recognise clinical features of infantile-onset TK2 deficiency and differentiate them from other causes of neonatal hypotonia and respiratory failure; Apply age-appropriate diagnostic strategies to evaluate unexplained muscle weakness and delayed motor milestones in children with suspected TK2 deficiency; Evaluate adult patients with progressive myopathy and respiratory symptoms to determine when to initiate genetic testing for TK2 deficiency; Interpret evolving neuromuscular symptoms in adolescents to identify when TK2 deficiency should be considered in the differential diagnosis.

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