Facioscapulohumeral muscular dystrophy

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Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm. These areas can be spared. Muscles of other areas usually are affected, especially those of the chest, abdomen, spine, and shin. Most skeletal muscle can be affected in advanced disease. Abnormally positioned, termed 'winged', scapulas are common, as is the inability to lift the foot, known as foot drop. The two sides of the body are often affected unequally. Weakness typically manifests at ages 15–30 years. FSHD can also cause hearing loss and blood vessel abnormalities at the back of the eye. FSHD is caused by a genetic mutation leading to deregulation of the DUX4 gene. Normally, DUX4 is expressed (i.e., turned on) only in select human tissues, most notably in...

Read on Wikipedia · Image Original author Daniel C. L. Zammit, used in publication by Christopher R S Banerji and Peter S Zammit edited by Lukelahood, CC BY 4.0