Facioscapulohumeral Type Progressive Muscular Dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness and wasting, primarily affecting the face, shoulders, and upper arms. It is named after the areas of the body most commonly affected by this condition.
FSHD is caused by a genetic mutation in either chromosome 4 or chromosome 10, leading to the production of an abnormal protein. This abnormal protein causes the breakdown of muscle tissue, resulting in muscle weakness and atrophy. The exact mechanisms of how this protein leads to muscle damage are still being studied.
Symptoms of FSHD typically begin in adolescence or early adulthood, although they can also manifest later in life. The progression of muscle weakness is variable, and some individuals may experience a milder form of the condition. Common symptoms include weakness and loss of muscle mass in the facial muscles, particularly around the mouth and the eyes. Additionally, there is often weakness and wasting of muscles in the shoulders, upper arms, and scapular region. Other symptoms may include difficulty raising the arms, problems with swallowing, and in some cases, hearing loss.
Currently, there is no cure for FSHD, but treatments focus on managing symptoms and improving quality of life. This may involve physical therapy to maintain muscle strength and flexibility, assistive devices to aid mobility, and speech therapy to address any swallowing difficulties. Regular monitoring and support from a multidisciplinary healthcare team are essential in managing this condition.
