Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers

Abstract

Native American myopathy (NAM, also known as STAC3 disorder) (OMIM 255995) is an ultra‐rare genetic disease impacting multiple body systems. The quality of life and caregiver burden associated with this condition remain poorly characterized. In this study, the Pediatric Quality of Life Inventory and a survey comprised of de novo questions concerning genetic testing, counseling, and caregiver burden were employed to investigate the health‐related quality of life (HRQoL) in patients and caregivers with NAM. Study findings uncovered a concerning trend: patients with NAM experienced a notable decline in HRQoL, with reasons that warrant further investigation. Particularly striking was the downturn observed during the transition from adolescence to adulthood—across Physical, Social, and Emotional Functioning domains. Taken together, this study has elucidated novel insights into the impact of NAM, and areas of concern to improve HRQoL have subsequently been highlighted.