Who can be affected by FSHD?

1 in every 7,500 individuals, or 1 million people worldwide, are estimated to have FSHD. However, because of the difficulty diagnosing the disease, the prevalence of FSHD is likely to be well underestimated. We believe FSHD to be the fastest growing rare disease in Australia, as research suggests that the prevalence could be up to three times that officially stated.

FSHD does not discriminate, affecting men, women, and children of all races and ethnicities. 10% of people diagnosed report symptoms developing before age 10. The condition is inherited and can affect many family members across generations. Often one person receiving a diagnosis triggers a wave of diagnoses throughout their family, with many members finding out they also carry the disease. Some may have been misdiagnosed previously and others may not have experienced severe symptoms.

In up to 30% of cases, FSHD appears in families with no known history of the disease, meaning it can affect any family at any time.