Facioscapulohumeral muscular dystrophy (FSHD)

: Facioscapulohumeral muscular dystrophy (FSHD; MIM 158900) is one of the major forms of muscular dystrophy, and is inherited in an autosomal dominant fashion. In most patients with FSHD, deletion of 3.3 kb tandemly repeated units within the EcoRI fragment, as detected by p13E-11 (D4F104S1) on chromosome 4q35, is associated with the disease (FSHD1A or 4q35-FSHD). Rare ( 95% accuracy). However, gene for FSHD1A has not been identified yet. Identification of the FSHD gene and characterization of the gene product are waited on tiptoe with expectation.