Facioscapulohumeral muscular dystrophy (FSHD) requires the presence of not one but two genetic changes, both on chromosome 4, before it causes its characteristic symptoms — weakness starting in the muscles of the face, shoulder blade area and upper arms, with possible progression to other parts of the body.
The new findings, announced online Aug. 19, 2010, in the journal Science, have immediate implications for diagnosis and prediction of FSHD, and possible long-term implications for its treatment.