The following discussion is for general informational purposes only and is not meant to provide the reader with specific medical advice. Please consult with your personal physician, or with a neurologist, for specific advice, guidance and information regarding your particular circumstances.
Tourette syndrome (TS), a neurological movement disorder is named after a French physician, Gilles de la Tourette. At the end of the nineteenth century, Tourette described 9 patients who exhibited uncontrollable movements and vocalizations. Poorly understood for nearly 100 years, TS was long thought to be a purely psychiatric or an emotional disorder. It was not until the late 1960's and early 1970's that physicians realized that these patient's symptoms improved when given medication that blocked the action of dopamine in certain parts of the brain. This observation, along with other modern studies of genetics, neurochemistry, neuropharmacology and brain imaging has led researchers and clinicians to recognize that the underlying cause of TS is biological, in large part due to genetically caused abnormalities in brain neurotransmitters and receptors. It is thought that TS may be present in as many as 1 in 100 people, with most cases being very mild. Intensive worldwide research is underway to find the genes responsible for TS. It is hoped that genetic study of the disorder, along with other research efforts will ultimately provide more effective treatment, and perhaps a cure for those most severely affected.
TS, by definition, begins in childhood, and the average age at diagnosis is seven. Tics may start as early as age 2, but almost never after age 16. The hallmark of Tourette's syndrome is the presence of motor and vocal tics. A tic is a brief, stereotyped, repetitive and usually rapid involuntary movement. Types of motor tics vary widely, but commonly include eye blinking, facial grimacing, shoulder shrugging, neck turning or brief tensing of the limbs or torso. Vocal tics often include throat clearing, sniffing, humming, squealing and less commonly actual words. Coprolalia (uncontrollable cursing), while often publically cited as one of the hallmarks of TS, is actually relatively rare, being present in less than 15% of patients. The tics wax and wane in severity, at times disappearing for weeks or months, only to be replaced by different tics. The tics must be present for at least one year before a formal diagnosis can be made. The tics may spontaneously improve significantly or disappear in at least 60% of patients after the age of 16.
The diagnosis is made primarily through a thorough history, including a detailed family history. While tics are often observed during the medical examination, they need not be present at the time of the exam to make an accurate diagnosis. TS is a "spectrum" disorder, and Attention Deficit Hyperactivity Disorder and Obsessive Compulsive Disorder are found in approximately 50-60% of patients with TS. The presence of either or both of these associated conditions often aids in the diagnostic process. Laboratory tests and brain imaging are usually not necessary.
Treatment always includes educating the patient and family, establishing social and educational supports, learning to minimize stress, avoiding sleep deprivation and avoiding certain medications. Treatment may also include medication for varying periods of time, as well as cognitive behavioral modification.