On the Role of Delays to Diagnosis of Facioscapulohumeral Muscular Dystrophy

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic muscle disease that predominantly affects the facial, scapular, and humeral musculature. Scapular winging is the most common initial finding in patients with FSHD. FSHD can substantially impact a patient’s daily life, ranging from discomfort during work to athletic disadvantages. Another aspect of FSHD that is essential for obtaining successful patient outcomes is timely diagnosis, which can be challenging, possibly due to the heterogeneity of presenting features as well as the rarity of the condition. Some of the methods for increasing the ability to diagnose FSHD should include increased education regarding the disease, as well as other muscular dystrophies, specifically in underserved communities that may have less access to healthcare. Although there is currently no effective pharmacologic intervention for FSHD, recommendations of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine (2015) provide helpful guidance.