Abstract
BACKGROUND: Pompe disease is a glycogen storage disease primarily affecting striated muscles. Despite its main manifestation in muscles, patients with Pompe disease may exhibit non-muscle symptoms, such as hearing loss, suggesting potential involvement of sensory organs or the nervous system due to glycogen accumulation. AIMS: This study aimed to evaluate the presence of concomitant small and large fiber neuropathy in patients with Pompe disease. METHODS: In this case series study, nine patients with Pompe disease without complaints of neuropathy were evaluated. Small fiber neuropathy was assessed using the Small Fiber Neuropathy Screening List (SFNSL) and SUDOSCAN(R), while the sympathetic system was evaluated through Sympathetic Skin Response (SSR), and large fiber neuropathy was assessed through electrodiagnostic findings. RESULTS: Small fiber neuropathy was detected in seven patients (77.8%) according to the SFNSL. Three patients (3/9, approximately 30%) exhibited positive electrophysiological tests, including SSR, SUDOSCAN(R), and nerve conduction studies for neuropathy. They also had positive SFNSL results. CONCLUSIONS: This study indicates that neuropathy can be a comorbid condition in Pompe disease, emphasizing the importance of screening for this disabling condition.