Dystonia musculorum deformans with hyperuricaemia - study of a family

This article presents a study of a family in which association of hyperuricaemia and more interestingly increased C.S.F. uric acid was noticed in two members who had classical dystonia musculorum deformans (DMD). Other members of the family had no clinical evidence of DMD but had increased serum and C.S.F. uric acid. Investigations did not reveal any of the common disorders of the purine metabolism in any of the family members. An attempt has been made to discuss the aetiopathological correlation.