Overview:
Thymidine kinase 2 deficiency (TK2d) is
an ultrarare autosomal recessive disorder that results in a myopathic form of
mitochondrial DNA (mtDNA) depletion. It has been estimated that the minimum
prevalence of TK2d is 600 patients in the United States with a maximum of 2700. Due to its rarity, most clinicians are
unfamiliar with this disease, but early recognition and diagnosis of TK2d is
becoming increasingly important as novel therapies are being developed. Most
patients with mitochondrial myopathies see an average of 8 clinicians over 8 to
10 years from the onset of symptoms before receiving a diagnosis. This can
result in significant mortality and morbidity.
Learning Objectives:
Upon
completion of this activity, participants will be able to:
- Outline the relationship between the pathophysiological pathways underlying TK2d and its clinical presentations
- Describe diagnostic strategies to identify patients with TK2d
- Identify the limitations of current treatment paradigms for patients with TK2d
- Analyze clinical trial data for agents for TK2d
Target Audience:
This educational activity is directed toward
neurologists, neuromuscular specialists, pediatric neurologists, PAs, RNs, and
other healthcare professionals involved in the care of patients with T2Kd.
Physicians’ Education Resource®, LLC, is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
Physicians’ Education Resource®, LLC designates this live activity for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Physicians’ Education Resource®, LLC is approved by the California Board of Registered Nursing, Provider #16669, for 1.0 Contact Hour.