What are the Symptoms of FSHD?

The name Facio (face) – Scapulo (shoulder blades) – Humeral (upper arm) indicates the particular distribution of the affected muscles which is characteristic early in FSHD. With time and depending on how severely an individual is affected, the leg muscles may become affected as well.  This descending pattern of progression from face and shoulders to the legs is typical for most individuals.

The majority of individuals with FSHD typically start noticing symptoms in their teens but the range of the age at which symptoms start varies widely from early infancy, also called infantile FSHD, to late adulthood.  In fact a fraction of individuals who have very mild weakness for which they have compensated may never notice any symptoms.

The typical initial complaint relates to weakness of the shoulders with winging of the shoulder blades and difficulty lifting arms overhead.  At times, the initial symptom is tripping or slapping of the foot due to foot drop.

For more information, please contact the Fields Center FieldsCenter@urmc.rochester.edu