EP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive and often asymmetric muscle weakness of the face, scapular stabilizers, shoulders, arms, lower leg, and hip girdle. Around 20% of patients are wheelchair-bound, and some also present with sensory, cardiac or neurological manifestations. The age of onset is variable and ranges from infancy to adult. There are two different forms of FSHD, FSHD type 1, and FSHD type 2. FSHD1 is most common, found in 95% of individuals diagnosed with FSHD, and the remaining 5% are diagnosed with FSHD2.