Callas's Twist

Callas's Twist is an inherited condition that severely weakens the muscles and bones of affected children.  Without intervention, those who have it rarely survive to adulthood; with it, they may reach middle age.

Symptoms

Callas's Twist can be detected in children as young as one year. Affected individuals display an exaggeratedly bowlegged gait as they learn to walk. However, other conditions can also cause bowleggedness, so a final diagnosis can only be made through skeletal soundings. If it is not detected before the age of five, the body begins to show the abnormal bone growth that gives the condition its name. Arms hang at odd angles, shoulders are not parallel to the ground when standing, children may skip or shuffle as they walk, and they leave asymmetrical footprints. In adolescence the twisting becomes debilitating, especially as the ribs tend to curve too far inward and place pressure on the heart and lungs. At this stage the muscles begin deteriorating, and sufferers gradually lose the ability to move their own bodies.  In the final stage, involuntary muscles become too weak to support normal bodily function, causing death.

Treatment

Callas's Twist can be successfully mitigated if it is caught before puberty, but the earlier the treatment begins, the better.  During the first five years of life, regular medication and a carefully controlled diet are important to delay the final muscular degeneration.  For the next six to eight years, regular physical therapy in addition promotes muscle strength and proper skeletal orientation.  Once adolescence begins, proper bone growth is best encouraged by extended periods of bracing the limbs and torso.  After the patient's growth is complete, the intensive therapy regimen stops.  From that point on, the condition is managed by exercise and continued doses of medication.

Prognosis

Callas's Twist severely reduces the patient's lifespan. With no treatment, patients typically die within their second decade of life due to a deformed ribcage applying pressure to internal organs and the deterioration of the chest muscles required for breathing. If it is found and treated during adolescence, the body can be braced into its correct position, but the muscular degeneracy phase can only be slightly delayed; those patients may survive into their mid-twenties. The sooner the medication begins, the longer the degeneracy can be postponed. With the full treatment, patients can live a significant adult life with few limitations. Even so, no patient with Callas's Twist has been known to live to a full half-century.

Epidemiology

The condition is hereditary, occuring almost exclusively in girls. Studies of families carrying Callas's Twist show an abnormally low birth rate, with a ratio of twice as many girls as boys. Half the girls are affected, while the boys are not, leading to the conclusion that boys with the condition do not survive to birth.

Type

Genetic

Origin

Mutated

Cycle

Chronic, Congenital

Rarity

Rare