Facioscapulohumeral Muscular Dystrophy (FSHD) is a rare genetic disorder characterized by progressive muscle weakness and wasting in particular muscles of the face (facio), shoulders (scapulo), and upper arms (humeral). It is one of the nine main types of muscular dystrophy.
FSHD is caused by a genetic mutation that results in the abnormal expression of the DUX4 gene, which leads to the production of toxic proteins. The disease is inherited in an autosomal dominant pattern, which means that an affected parent has a 50% chance of passing the condition on to their children.
Typically, FSHD begins with weakness and loss of muscle mass in the face, resulting in a flattened appearance and difficulty closing the eyes or smiling. The weakness then progresses to the shoulders and upper arms, causing difficulties with lifting objects, raising the arms, or reaching overhead. In some cases, the weakness may also affect other muscles throughout the body, including the abdomen, hips, and lower limbs.
FSHD can manifest at any age, from infancy to adulthood, but it usually becomes apparent during adolescence or early adulthood. While the severity of the condition can vary widely among affected individuals, the disease is generally not life-threatening and individuals with FSHD can have a normal lifespan.
Currently, there is no cure for FSHD, but there are interventions available to manage symptoms and improve quality of life for those affected. These may include physical therapy, assistive devices, and medication to alleviate pain or reduce inflammation. Ongoing research is focused on understanding the underlying mechanisms of FSHD and developing potential treatments.
