Sarah Boyce, President and CEO of Avidity Biosciences, describes the common diagnostic process of an individual with facioscapulohumeral muscular dystrophy (FSHD).
FSHD is a rare, progressive musculoskeletal disease in which persons initially lose muscle strength in the face, shoulders, arms, and trunk, but later the disease progresses throughout the lower body. FSHD is due to the mis-expression of DUX4 in skeletal muscles. There are currently no approved treatments for the disease.
As Ms. Boyce explains, geneticists may be involved in the diagnostic process which speeds this process up. Additionally, Ms. Boyce notes that the progressive nature of the disease may be a telltale sign that an individual has FSHD. However, like most rare diseases, the diagnostic journey for most patients is quite long.
To learn more about FSHD and other rare musculoskeletal diseases, visit checkrare.com/diseases/musculoskeletal-diseases/