Facioscapulohumeral muscular dystrophy (FSHD)

Facioscapulohumeral (FSHD) muscular dystrophy is a genetic muscle-wasting condition that causes muscles to weaken and waste over time leading to increasing disability. It particularly affects the muscles of the limbs, shoulders and face.

Between 2,000-2,500 people in the UK have FSHD. Several generations of a family are often affected by the condition. It can be diagnosed at any age and can vary widely between individuals, even within the same family. One-third of those with the condition are unaware of the symptoms right into old age.

The earlier the muscle weakness appears, the more severe it is likely to become. Between 10-20 percent of people with the condition eventually require a wheelchair. It affects the muscles of the eyes and mouth, including the ability to smile.

FSHD is caused by a genetic mutation which causes a toxic protein to be produced in the muscle, killing the muscle cells. There is currently no treatment available targeting the underlying genetic causes of FSH. Muscular Dystrophy UK is funding research investigating the mechanisms leading to FSHD.

We also fund the UK FSHD patient registry. This is a database of information about people with FSHD to help identify participants for clinical trials and improve the care people receive. The registry also offers a link between patients and the research community so that patients can access relevant information with ease. Anybody with FSHD can register.

Watch our information video on facioscapulohumeral muscular dystrophy (FSHD) about the support that is available to individuals and families affected by FSHD. The video features Martyn Blenkharn, from Morecambe who has facioscapulohumeral muscular dystrophy.