Scoliosis is a side-to-side curvature of the spine of 10 degrees or greater.
When viewed from the rear, the spine usually appears to form a straight vertical line. Scoliosis is a lateral (side-to-side) curve in the spine, usually combined with a rotation of the vertebrae. (The lateral curvature of scoliosis should not be confused with the normal set of front-to-back spinal curves visible from the side.) While a small degree of lateral curvature does not cause any medical problems, larger curves can cause postural imbalance and lead to muscle fatigue and pain. More severe scoliosis can interfere with breathing and lead to arthritis of the spine (spondylosis).
Four out of five cases of scoliosis are idiopathic, meaning the cause is unknown. Children with idiopathic scoliosis appear to be otherwise entirely healthy, and have not had any bone or joint disease early in life. Scoliosis is not caused by poor posture, diet, or carrying a heavy bookbag exclusively on one shoulder.
Idiopathic scoliosis is further classified according to age of onset:
Causes are known for three other types of scoliosis:
Idiopathic scoliosis has long been observed to run in families. Twin and family studies have consistently indicated a genetic contribution to the condition. However, no consistent pattern of transmission has been observed in familial cases. As of 2000, no genes have been identified which specifically cause or predispose to the idiopathic form of scoliosis.
There are several genetic syndromes that involve a predispostion to scoliosis, and several studies have investigated whether or not the genes causing these syndromes may also be responsible for idiopathic scoliosis. Using this candidate gene approach, the genes responsible for Marfan syndrome (fibrillin), Stickler syndrome, and some forms of osteogenesis imperfecta (collagen types I and II) have not been shown to correlate with idiopathic scoliosis.
Attempts to map a gene or genes for scoliosis have not shown consistent linkage to a particular chromosome region.
Most researchers have concluded that scoliosis is a complex trait. As such, there are likely to be multiple genetic, environmental, and potentially additional factors that contribute to the etiology of the condition. Complex traits are difficult to study due to the difficulty in identifying and isolating these multiple factors.
The incidence of scoliosis in the general population is 2-3%. Among adolecents, however, 10% have some degree of scoliosis (though fewer than 1% have curves which require treatment).
Scoliosis is found in both boys and girls, but a girl's spinal curve is much more likely to progress than a boy's. Girls require scoliosis treatment about five times as often. The reason for these differences is not known, but may relate to increased levels of estrogen and other hormones.
Scoliosis causes a noticeable asymmetry in the torso when viewed from the front or back. The first sign of scoliosis is often seen when a child is wearing a bathing suit or underwear. A child may appear to be standing with one shoulder higher than the other, or to have a tilt in the waistline. One shoulder blade may appear more prominent than the other due to rotation. In girls, one breast may appear higher than the other, or larger if rotation pushes that side forward.
Curve progression is greatest near the adolescent growth spurt. Scoliosis that begins early on is more likely to progress significantly than scoliosis that begins later in puberty.
More than 30 states have screening programs in schools for adolescent scoliosis, usually conducted by trained school nurses or gym teachers.
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Author Info: Jennifer Roggenbuck MS, CGC, The Gale Group Inc., Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part I, 2002 |