Facioscapulohumeral muscular dystrophy (FSHD)
Updated: Jan 31
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating genetic disorder affecting the facial, shoulders, and upper arms muscles. It is one of the most common forms of muscular dystrophy, a group of inherited conditions that cause progressive muscle weakness and wasting. The condition is caused by a genetic mutation on chromosome 4 that leads to the abnormal expression of a protein called DUX4. This protein is toxic to any non-germline cells; when expressed aberrantly in muscles, it causes muscle cells to die, eventually leading to muscle weakness and wasting.
Arguably, FSHD is the most complex disease known. The genetic mutation that causes the condition is highly variable and can be extremely challenging to diagnose. The severity of the condition can also vary greatly among affected individuals, making it challenging to predict the course of the disease and develop effective treatments.
Symptoms of FSHD typically begin in adolescence or early adulthood and may include weakness in the muscles of the face, shoulders, and upper arms. This can lead to difficulty smiling, raising the arms, or lifting objects. Some people with FSHD also have difficulty holding their heads up or walking. As the condition progresses, the weakness may spread to other body parts, such as the legs and back.
Diagnosis of FSHD is based on clinical examination and genetic testing. A physical examination may reveal weakness and wasting (atrophy) in the muscles of the face, shoulders, and upper arms, as well as other signs of muscle weakness and wasting. Genetic testing can confirm the diagnosis by identifying the genetic mutation that causes FSHD.
There is currently no cure for FSHD, but treatment can help manage symptoms and improve quality of life. Physical therapy and rehabilitation can help improve muscle strength and function. Assistive devices, such as braces or wheelchairs, can help with mobility. Surgery may be recommended in some cases to correct deformities or improve breathing. Research is ongoing to develop new treatments for FSHD. Some potential therapies currently under investigation include gene therapy, which aims to correct the genetic mutation that causes FSHD, and the use of drugs to inhibit the expression of the DUX4 protein. Additionally, studies are being conducted on using stem cell therapy to regenerate damaged muscle tissue.
Living with FSHD can be challenging, but with proper management and support, people with FSHD can lead full and productive lives. Advances in genetic research may lead to new treatments and a better understanding of the underlying causes of FSHD in the future. Assistive support, counseling, and therapy can also be beneficial for people with FSHD and their families to cope with the condition and improve their overall well-being.