Dystonia musculorum deformans: implications of therapeutic response to levodopa and carbamazepine

Sporadic, autosomal recessive and dominant forms of dystonia musculorum deformans have been recognized. This communication reports the results of treatment of six patients with this condition. Two patients with the recessive form responded to levodopa therapy. Three patients who responded to carbamazepine therapy probably have the dominant form. In one patient, response to carbamazepine therapy was equivocal. It is suggested that such therapeutic responsiveness may reflect underlying biochemical differences in the recessive and dominant forms of the disease.