Skip to main content
Our Focus:
Facioscapulohumeral Muscular
Dystrophy (FSHD)
We support all people, families and caregivers living with rare diseases, this Rare Disease Day and every day

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.

Each person living with FSHD has a unique and powerful story to tell

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.

Laura A. and Chelsea M. photo

Meet Laura and Chelsea

Joint perspective of a mother and daughter’s journey with FSHD

Howard Chabnew photo

Meet Howard

Living with loss, making adjustments: One man’s journey with FSHD

Rachel S. photo

Meet Rachel

“If there was a treatment for FSHD, it would be life-changing for me.”

Ian R. photo

Meet Ian

“So many therapies in development right now. I’m very, very excited.”

Sam M. photo

Meet Sam

“I would love to see some type of therapy that would regrow muscle tissue.”

World FSHD Day

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.

World FSHD Day collage


World FSHD Day collage



About Facioscapulohumeral Muscular Dystrophy (FSHD)


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:

  • Facial muscle weakness, which can make it difficult to smile or use a straw
  • Weakness in all major muscle groups, including arms, torso, legs and abdomen
  • Joint and spinal abnormalities, including protrusion of the shoulder blades
  • Limited mobility


There are currently no approved disease-modifying treatments for FSHD.


For more information about FSHD, see these additional resources*:

*Viewing these links requires you to leave Dyne’s website. Dyne assumes no responsibility for the information, statements or other content you may encounter outside of Dyne’s website.

For general community inquiries, please contact us at: