Medical Student Research Forum Posters

FSHD is an autosomal-dominant disorder that asymmetrically affects the face, shoulders, and upper arms and later progresses to affecting the trunk and lower extremities. Symptoms usually begin before the age of 20 with a prevalence thought to occur around 4-10 per 100,000 people (1,2). The pathogenesis has been linked to the inappropriate expression of DUX4, a gene usually limited to the germline, that relaxes the chromatin either by a loss of macrosatellite repeats (D4Z4) or mutations in the structural maintenance of chromosome flexible hinge domain containing gene 1 (SMCHD1).