Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic disease that causes weakness in the skeletal muscles. The disease often progressively spreads from the face into other areas of the body, including scapular girdle, upper limb, pelvic girdle, abdominal and leg muscles, but many distinct skeletal muscles are affected within an individual and its clinical manifestation varies greatly. The journey of each FSHD patient is unique. No cure currently exists to treat FSHD, nor are there any disease-modifying treatments available.
There are currently ~16,000 diagnosed patients in the United States.
FSHD is caused by a genetic mutation of the double homeobox protein 4 gene, also known as DUX4 on chromosome 4. Abnormal activation of the DUX4 gene leads to the production of the DUX4 protein, which is myotoxic and causes muscle degeneration.
