Cervical dystonia may be primary (meaning that it is the only apparent neurological disorder, with or without a family history) or be brought about by secondary causes such as physical trauma. Cases of inherited cervical dystonia may occur in conjunction with early-onset generalized dystonia, which is associated with the DYT1 gene.
Diagnosis of cervical dystonia is based on information from the affected individual and the physical and neurological examination. At this time, there is no test to confirm diagnosis of cervical dystonia, and in most cases assorted laboratory tests are normal.
Cervical dystonia should not be confused with other conditions which cause a twisted neck such as local orthopedic or congenital problems of the neck, or ophthalmologic conditions where the head tilts to compensate for impaired vision. It is sometimes misdiagnosed as stiff neck, arthritis, or wryneck.