Facioscapulohumeral dystrophy – FSHD

Facioscapulohumeral muscular dystrophy (FSHD) is named after the parts of the body that are primarily moved by the affected muscles (face-facies, shoulder blades-scapulae and upper arms-humerus). This form of the disease occurs most often from the age of 12 onwards, in both sexes. It progresses slowly, with occasional short periods of rapid muscle wasting and weakness. The severity of the disease varies from very mild to very severe. Typically, there are problems with chewing, swallowing and speaking, and the face looks like a mask due to muscle spasms. As the disease progresses, walking becomes difficult, and 50% patients can walk all their lives. The lifespan is usually not shortened.