3. What are the Symptoms of FSHD?


The description of the clinical symptoms outlined in the next three sections, apply to both FSHD1 and FSHD2. The name Facio (face) – Scapulo (shoulder blades) – Humeral (upper arm) indicates the particular distribution of the affected muscles early in the disease.  This distribution of weakness 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 or childhood, 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. Less frequently, the initial symptom is tripping or slapping of the foot due to foot drop.

Other muscle groups that become affected over time include the muscles of the upper arm, the biceps and triceps, and the muscles of the trunk including the abdominal muscle making it difficult to sit up from a supine position without using the arm to pull oneself up to a sitting position.  When proximal leg muscles become affected, climbing stairs and walking becomes more difficult.


    1. What is FSHD?
    2. How is FSHD inherited?
    3. What are the Symptoms of FSHD?
    4. Does FSHD affect other parts of the body?
    5. Is infantile FSHD different from other forms of FSHD?
    6. What can someone with FSHD Expect as they age?
    7. How is FSHD Diagnosed?
    8. What causes FSHD?
    9. Are there any treatments for FSHD?

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