FSHD

FSHD Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type of muscular dystrophy worldwide. The prevalence of the disease is estimated at about one in 20,000. The name of the disease relates to the areas of the body that are most affected early on in the disease: the face (facio), the shoulder blade (scapula) and the upper arm (humeral). As the disease progresses it can also affect the legs. FSHD has also been known by the name Landouzy Dejerine (after two people who first characterised the disease). FSHD usually begins before age 20, with weakness and atrophy of the muscles around the eyes and mouth, shoulders, upper arms and lower legs. Later, weakness can spread to abdominal muscles and sometimes hip muscles. Some experts divide FSHD into adult-onset and infantile-onset forms. The adult-onset (which includes FSHD that begins in adolescence) is far more common. In either type of FSHD, facial weakness can start in childhood. Occasionally, other FSHD symptoms appear in early childhood. Progressive weakness of the legs can start to develop by the teenage years and lead to the need for a wheelchair. Symptoms can present much earlier in life in what is described as infantile FSHD, regarding muscle weakness and sometimes also affects hearing and vision. Preliminary evidence suggests that the infantile-onset form is associated with a larger piece of missing DNA. FSHD does not typically reduce the lifespan of the affected person and people diagnosed with FSH can still live into their 90s. In 2009, MDA-supported researchers found that pieces of a gene called DUX4 are abnormally activated in FSHD-affected cells, leading to production of potentially toxic proteins, blocking the erroneously activated genes or the proteins made from them seems a likely pathway for the eventual treatment of FSHD. Researches are still being carried through. In 2016, researchers and scientists conducted a study into infantile FSHD, that is FSHD that effects children and adolescents. This study provides valuable insight into the differences between FSHD that occurs in adulthood and FSHD that occurs in children, which helps in contributing to FSHD patients.