FSHD / OPMD / MYOTONIC DYSTROPHY: P.228 Need for therapy and effect of symptomatic treatment in myotonic disorders: the Myotonia observation survey of patient access to therapy (MyoPath)

Abstract

Myotonic disorders are a family of conditions resulting from rare genetic mutations affecting skeletal muscle cells. They can be categorized as either dystrophic (DM) or non-dystrophic myotonia (NDM) and can have significant impact on patient quality of life (QoL), causing a range of symptoms including muscle stiffness. Mexiletine (MEX) is currently the only EU-approved antimyotonic therapy for adult patients with NDM. MyoPath aimed to obtain data on treatment access and impact on daily life for patients with myotonic disorders, as well as effectiveness of MEX therapy for these conditions.