Facioscapulohumeral muscular dystrophy FSHD is a genetic muscle disorder in which the muscles of the face, shoulder blades, and upper arms are among the most affected. The long name comes from facies , the Latin word and medical term for face; scapula , the Latin word and anatomical term for shoulder blade; and humerus , the Latin word for upper arm and the anatomical term for the bone that goes from the shoulder to the elbow. The term muscular dystrophy means progressive muscle degeneration, with increasing weakness and atrophy loss of bulk of muscles. In FSHD, weakness first and most seriously affects the face, shoulders, and upper arms, but the disease usually also causes weakness in other muscles. FSHD is the third most common type of muscular dystrophy, behind Duchenne and Becker muscular dystrophies and myotonic dystrophy. The estimated prevalence of FSHD about 4 cases per , individuals.
Facioscapulohumeral muscular dystrophy: MedlinePlus Genetics
Facioscapulohumeral muscular dystrophy, or FSHD, is a genetic disorder that leads to the weakening of skeletal muscles. Typically beginning in early teenage years with the loss of muscles in the face facio , shoulders scapula , upper arms humerus , legs or core, FSHD can spread to any muscle. Around 20 percent will need a wheelchair by age Over 70 percent experience debilitating pain and fatigue. There is no effective treatment or cure—but there is hope. An estimated 1 in 8, individuals, or , people worldwide.
What is FSHD
Facioscapulohumeral muscular dystrophy FSHD is a type of muscular dystrophy , a group of heritable diseases that cause progressive impairment of muscles. FSHD preferentially weakens the skeletal muscles of the face Latin: facio , those that position the scapula scapulo , and those in the upper arm , overlying the humerus bone humeral. Abnormally positioned scapulas winged scapulas and inability to lift the foot foot drop are common. The two sides of the body are often affected unequally.
Try out PMC Labs and tell us what you think. Learn More. In the present time there is the opinion that FSHD is a disease genetically heterogeneous, but homogeneous from a clinical point of view : " These authors, as many others, supposed that the facio- scapulo-peroneal topography of muscle weakness early involvement of facial, shoulder girdle and tibialis anterior muscles is the specific sign of both FSHD forms, at the beginning stage of the disease.