Primary mitochondrial disease (PMD) is often missed by clinicians due to the broad range of clinical presentations and genetic etiologies. Our recent program “Progressive Myopathy: Could it be a Genetic Mitochondrial Disease?” focused on diagnosing this condition in infants, children, and adults who present with progressive muscle weakness; understanding the diagnostic workup; and manifestations of thymidine kinase 2 (TK2) deficiency.
Led by experts from Children’s Hospital of Philadelphia and Columbia University Irving Medical Center, the program was geared for clinicians in pediatric neurology, neurology, pediatrics, pulmonology, gastroenterology, genetics, physical therapy, occupational therapy, and nutrition. More than 622 learners participated in the program.
We recently assessed the impact of this online continuing education for health care professionals in recognizing and diagnosing primary mitochondrial diseases. We will be presenting the findings at the 2022 United Mitochondrial Medicine Symposium
During the session, there were 750 poll responses, demonstrating a high level of engagement. Post-test surveys completed two months after the CME program indicate a positive impact from both the live and on-demand online programs, particularly related to health care providers’ awareness of the burden of PMD. After the session, 89% of learners reported the activity positively impacted patient experiences and outcomes, while 86% of learners reported the activity positively impacted clinical practice.
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