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Facioscapulohumeral (FSH) dystrophy is a form of muscular dystrophy that usually affects the face, upper arms, and shoulder blades. FSH and muscular dystrophy might progress to other areas of the body by middle age. It represents a genetic disease caused by a mutation of genes on a pair of chromosomes, resulting in gaps in sequencing. Genetic experts believe this malfunction occurs at conception.
FSH and muscular dystrophy symptoms vary within families when more than one child is affected. Some children only experience weakness in the face, arms, and shoulder blades, while a sibling might be confined to a wheelchair. About one-third of children with the disease do not show any pronounced signs of FSH and muscular dystrophy until they reach their teens or early adulthood. The most severe symptoms usually appear in the first-born child of parents who carry faulty genes, and when signs first appear at a young age.
In mild cases of FSH and muscular dystrophy, a child’s eyes might remain partially open when he or she sleeps. He or she might not be able to whistle or blow up balloons because pursing the lips is difficult. As the child enters adolescence, pain might first develop in the shoulders and can be severe. A child's posture might become stooped, and the upper arms might appear skinny from lack of muscle development. One side of the body is typically affected more than the other, linked to the dominant hand of the child.
By middle age, when back muscles weaken, the disorder usually starts affecting gait. In some patients, the knees and hips also become affected as they age. They might use exaggerated stepping motions and lean back when walking to compensate for loss of muscular control.
FSH and muscular dystrophy typically do not affect life expectancy unless symptoms become so severe that they impede movement and lead to frequent respiratory infections. Irregular heart patterns might develop, but are considered rare. When genetic researchers can determine the precise missing link in the DNA sequence, they can better predict how the disease might progress in individual patients.
More males develop FSH and muscular dystrophy than females. Women who inherit the disorder typically experience more subtle symptoms, and might be unaware the disease exists. FSH is the third most common form of muscular dystrophy and appears more often in certain ethnicities and regions of the world.
Some people born with FSH and muscular dystrophy also develop epilepsy and suffer from learning disabilities. Blood vessels in the eyes might also malfunction, but eyesight generally is not lost. Other patients suffer hearing losses as a complication of the disease.