Malignant hyperthermia arthrogryposis torticollis

Malignant hyperthermia arthrogryposis torticollis is a rare disorder mainly characterized by multiple shortenings of the joint muscles and twisted neck muscles. Doctors may also suggest patients undergo surgery to fix the joint and neck problems. Individuals with this condition also have a genetic susceptibility to a life-threatening disorder called malignant hyperthermia. Malignant hyperthermia primarily occurs secondary to anesthesia given for surgery and is characterized by elevated body temperature and can be life-threatening. The type 1 form of this condition is caused by a mutation to the ryanodine receptor in the muscles. This is a rare condition and is usually not tested for at birth or before surgery, but family's with a history of relatives developing this complication during surgery may require testing for this genetic susceptibility. Individuals who do develop malignant hyperthermia often have trouble supplying oxygen and removing carbon dioxide to different parts of the body, which can lead to death if not treated quickly. Anesthesiologists are well-trained to recognize this condition and manage it with supportive therapy and a medication called dantrolene.