AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE: P.11 Pain characteristics and involvement of small epidermal nerve fibers in patients with late onset Pompe disease (LOPD)

Abstract

In Pompe disease (glycogen storage disease type II), the lysosomal α-glucosidase deficiency leads to pathological glycogen accumulation in muscle, but also in other tissues such as the peripheral nervous system. Since chronic pain has been reported in late onset Pompe disease (LOPD), we aimed to investigate the pain characteristics and whether small fiber affection may play a role in the mediation of pain. 32 patients with LOPD under enzyme replacement therapy (56% females; age 52.8 ±13.5 years, with duration from Pompe symptom onset 15.94± 10.19 years) were enrolled.