What is FSHD? Facioscapulohumeral muscular dystrophy (FSHD) is a disorder characterized by muscle weakness and wasting (atrophy).  Currently there are 2 types: Learn about FSHD1 & FSHD2

FSHD varies person to person: The condition gets its name from muscles that are affected in the

• Face (facio)
• shoulder blades (scapulo)
• upper arms (humeral).
• Hamstring and trunk muscles are affected -early on but are less well recognized.

Other arm and leg muscles are frequently eventually affected in the course of the disease.

Symptoms & Severity & Life Expectancy:  usually appear before age 20 but can begin in infancy or later in adulthood.  Specific symptoms and findings may also vary in range and severity, including among affected members of the same family. The condition varies widely and some people with the disease allele remain asymptomatic (do not show signs of FSHD). FSHD is most typically characterized by relatively slow disease progression.  Life expectancy is not shortened. FSHD is usually inherited as an autosomal dominant genetic condition.

Genetic testing : Contact your GP, explain symptoms. Ask to be referred to a Neuromuscular specialist team. For formal confirmation they will request a genetic test to confirm symptoms. This is done via blood test. Most clinical trials will request this as a formal confirmation of the condition. Alternative methods for diagnosis: there are saliva tests available via a research study run by the Peter Jones and Takako Jones lab. Note: these are not currently formally recognised for clinical trials. To learn more – mention FSHD UK when requesting these tests: https://myfshd.org/test-for-fshd/

Cure for FSHD: There is no cure for FSHD at present. There are clinical trials underway. To learn more about the FSHD Clinical pipeline – visit the FSHD Society’s page: FSHD Clinical Studies/Trials Pipeline. Follow our pages on clinical and natural history studies in the UK

Prevalence in the UK: It was estimated by a European study in 2013 (taking a prevalence rate of 12/100,000 people with FSHD and the population at that time of c67.33 million in the UK) that there could be c.8000 FSHD patients in the UK.

Footnote1: Population-based incidence and prevalence of facioscapulohumeral dystrophy:Johanna C.W. Deenen, Hisse Arnts, Silvère M. van der Maarel, et al. Neurology 2014;83;1056-1059 Published Online before print August 13, 2014