Adult-onset primary lower limb dystonia.

The lower extremity is affected infrequently in adult-onset primary dystonia in contrast to childhood-onset dystonia, which typically begins in the foot. When dystonia affects the foot in an adult, it is usually on a secondary basis. We present findings on 17 patients (11 women, 6 men; average age of onset 48.4 years; average time to diagnosis 2.7 years) with adult-onset primary foot dystonia. Prior to diagnosis, most patients underwent extensive testing and treatment, including unnecessary surgeries. Only the left lower extremity was involved in 8 patients, only the right in 7, and both in 2. The most common patterns were plantar flexion of all toes and inversion of the foot, typically activated with standing or walking. Only 2 patients had dystonia elsewhere. There was a family history of possible dystonia in 2 patients. One of five tested for DYT1 was positive, in the absence of a family history. One of eight patients treated with levodopa experienced mild improvement. Six of eight treated with botulinum toxin improved. No patient has been observed to have a secondary cause of dystonia. The prognosis, with regard to progression or spread to other body parts, has been favorable. Although uncommon, foot dystonia on a primary basis, not due to DYT1, can begin in adulthood. In this series of patients, the diagnosis was often not recognized, leading to extensive and unnecessary testing and treatment and emphasizing the need for wider recognition.