Progressive Myopathy: Could It Be a Genetic Mitochondrial Disease?

Target Audience

The intended audience for this activity are pediatric neurologists, neurologists, pediatricians, neuromuscular specialists, primary care providers, pulmonologists, gastroenterologists, advanced practice providers (NPs, PAs), physical therapists/occupational therapists, nutritionists, and geneticists.

Learning Objectives

Upon completion of this activity, participants should be better able to:

Demonstrate an enhanced index of suspicion for the diagnosis of a genetic mitochondrial disease in infants, children, and adults who present with progressive muscle weakness
Describe the diagnostic work-up for a patient with mitochondrial disease and how to utilize genetic testing as part of the diagnostic approach
Describe key manifestations of thymidine kinase 2 (TK2) deficiency across the spectrum of disease severity and age as an example of mitochondrial DNA replication deficiency syndrome (MDS)