Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive loss of skeletal muscle, which causes profound weakness. The symptoms of FSHD often emerge first with a loss of facial muscle strength, making it difficult to smile. The atrophy typically progresses to the arms and torso and then the legs. The severity of symptoms varies widely. Although the genetic cause of FSHD is well understood, there are no approved treatments.
Living with FSHD has profound impacts on every part of peoples’ lives, from work and socializing to family life. Community members have shared moving examples of living with FSHD with our team and have told us what it would mean to them to have a transformative therapy for their disease.
Every year on June 20th, we join the FSHD community in recognizing World FSHD Day.
In recognition of World FSHD Day, Dynamos share orange slice selfies to support the FSHD Society’s annual campaign to build awareness of facial weakness experienced by some people living with FSHD that can make smiling difficult.
There is wide variability in age of onset with FSHD. Symptoms typically begin to appear in the teen years. In some cases, individuals do not begin to experience the muscle weakness characteristic of FSHD until well into adulthood. A very rare form of FSHD, often called infantile FSHD or IFSHD, is particularly debilitating, with symptoms beginning in infancy or early childhood.
FSHD is caused by aberrant expression of a gene called DUX4. In a healthy individual, DUX4 is active for only a short time in early embryonic development. In individuals with FSHD, the DUX4 gene remains “on” long after it is supposed to be silenced. This activation leads to surplus production of the DUX4 protein, which causes the gradual destruction of muscle cells throughout the body.
People living with FSHD experience a broad range of symptoms, including:
There are currently no approved disease-modifying treatments for FSHD.