JACKSONVILLE, Fla. — Researchers have identified a gene that causes adult-onset primary cervical dystonia, an often-painful condition in which patients' necks twist involuntarily. The discovery by a team from the Jacksonville, Fla., campus of Mayo Clinic and the University of Tennessee Health Sciences Center sheds light on a movement disorder that physicians previously could seldom explain. Their research appears in the Annals of Neurology.
In 1990, a man with a crooked neck came to see Ryan Uitti, M.D., a neurologist then at Mayo Clinic in Rochester, Minn. Dr. Uitti knew about adult-onset primary cervical dystonia, which results in involuntary twisting of the neck to the left or right, backward or forward. Most people who have it suffer from muscle pain and abnormalities in head position. Some don't think it is all that unusual and may not seek medical help, Dr. Uitti says.
"They think they slept wrong at some point, or, because the twisting might straighten out with another maneuver, such as walking backwards, they might actually be accused of being a little crazy," Dr. Uitti says.
Dr. Uitti had been taught that there is usually no explanation for the disorder, when it shows up in adulthood. But working with a team of neurologists who have found the genetic causes of other rare conditions, Dr. Uitti began to investigate.