5. Is infantile FSHD different from other forms of FSHD?

Infantile or childhood onset FSHD refers to occurrence of symptoms of patients at a very early.  Infantile or childhood FSHD  has the same genetic defect as all other forms of FSHD except that they tend to have a larger piece of missing DNA on chromosome 4 and typically have the most severe form of FSHD. In addition to having more severe muscle weakness, infantile FSHD patients also tend to have more severe, non-muscular complications that need to be addressed. Hearing loss needs to be recognized early and treated. The combination of unrecognized hearing loss and an unexpressive face due to severe facial muscle weakness can lead to the mistaken conclusion that the child is cognitively delayed. Speech therapy is important as severe weakness of the muscles of the mouth can result in speech problems and in problems eating. Infantile FSHD patients should also be carefully screened for retinal problems and breathing problems and treated accordingly.  Some patients with infantile onset FSHD will also have cognitive problems.

    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