TK2d is an ultra-rare genetic disease caused by mutations in the TK2 gene, which encodes for the production of the enzyme, thymidine kinase 2. The deficiency of this enzyme results in decreased levels of mitochondrial DNA in tissues. TK2d typically begins with early-onset severe myopathy patients in the first two years of life. A limited number of patients with TK2d have been treated under an investigator-led protocol with deoxythymidine and deoxycytidine in an attempt to bypass the deficiency of the enzyme.
We investigate the impact of the clinical course of TK2d on self or parent-reported quality of life as measured through the administration of the Peds QL TM 3.0 Neuromuscular Module (PedsQL NMM). The PedsQL NMM was found to be a reliable measure of disease-specific HRQL in patients with Duchenne’s muscular dystrophy. We aim to formulate preliminary recommendations for Occupational Therapy (OT) interventions addressing patient QOL in this ultra-rare disease.
A multidisciplinary team administered the PedsQL TM 3.0 Neuromuscular Module at baseline and subsequent visits for patients in an interventional clinical research study. The baseline data is presented here.
A multidisciplinary team administered the PedsQL TM 3.0 Neuromuscular Module to 8 participants ranging from 2.91–16.91 years of age. Five patients are female and 3 patients are male. The scores ranged from 26 to 91.
Through the administration of PedsQL TM 3.0 Neuromuscular Module, findings suggest that there is a wide variance of quality of life due to this progressive neuromuscular disease; with several patients scoring well below healthy population norms. Findings suggest the disease course of TK2 negatively impacts QOL in multiple areas. OTs have a unique role in addressing muscle function and quality of life. Further investigation includes interventional measures to improve overall muscular function with the goal of improving quality of life.