Recognizing TK2d: Key Clinical Signs and Diagnostic Protocols

About this episode

The episode discusses the clinical signs and diagnostic protocols for thymidine kinase 2 deficiency (TK2d) with insights from Dr. Kaitlin Batley.

Host: Alexandria May, PharmD, BCPS Guest: Kaitlin Batley, MD Fatigue and muscle weakness may seem routine, but when do they signal an underlying condition like thymidine kinase 2 deficiency (TK2d)? To find out, Dr. Alexandria May speaks with Dr. Kaitlin Batley, Director of the Pediatric Neuromuscular Program at Children’s Health and an Assistant Professor of Pediatrics and Neurology at UT Southwestern Medical Center. They discuss how multisystem involvement can help distinguish TK2d from more common neuromuscular disorders and how we can achieve diagnostic clarity through advanced genetic testing, metabolic evaluation, and muscle biopsy.

People in this episode

Host: Alexandria May

Guest: Kaitlin Batley

Topics covered

• thymidine kinase 2 deficiency
• neuromuscular disorders
• diagnostic protocols
• genetic testing
• muscle biopsy

Keywords

• TK2d
• fatigue
• muscle weakness
• diagnosis
• genetic testing
• metabolic evaluation
• muscle biopsy

Mentioned in this episode

Organizations: Children’s Health, UT Southwestern Medical Center

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