Consists of sustained or repetitive involuntary muscle contractions, frequently causing twisting movements and abnormal posture. May be generalized or focal; >300,000 cases in the United States.
Focal dystonias are common and include blepharospasm of the eyelids; spasmodic dysphonia involving the vocal cords; oromandibular dystonia of the face, lips, tongue, and jaw; cervical dystonia of the neck musculature (torticollis); and limb dystonias that are often task specific such as writer's cramp, playing a musical instrument (musician's cramp), or putting in golf (yips).
More than 16 causative genes have been identified. Idiopathic torsional dystonia is a predominantly childhood-onset form of generalized dystonia with an autosomal dominant pattern of inheritance that mainly affects Ashkenazi Jewish families; most are linked to a mutation in the DYT1 gene on chromosome 9. Other generalized dystonias occur as a consequence of drugs such as antiemetics, neuroleptics, and treatments for Parkinson's disease.
Section 3. Common Patient Presentations