Characterization of pain in patients with Barth syndrome

Abstract

Barth syndrome is a rare but grave neuromuscular genetic disorder. Pain in patients with Barth syndrome has not been extensively described in the literature. This pilot study examined the clinical phenotypes of pain in 38 individuals with Barth syndrome three years and older based on data from personal interviews. The prevalence of pain in the study sample was 23.7% on the day of interview (mean intensity 3.6 ± 2.4) and 68% in the previous week (mean intensity 4.5 ± 2.6). Of the patients who reported pain in the previous week, 52.6% felt aching and 36.8% felt tiring-exhausting. Common locations of reported pain were the head, abdomen, and lower back. Treatments were limited to analgesics, with little opioid or alternative treatments utilized. Results suggest that pain is prevalent in individuals with Barth syndrome. More education and research into the characteristics of Barth syndrome related pain will be useful in enhancing our understanding of this condition and in guiding its management.