Studies on dystonia musculorum deformans.

Abstract

Introduction Dystonia musculorum deformans, also known as torsion spasm, torsion dystonia, dystonia lenticularis, and dysbasia lordotica progressiva, is a disease of the basal ganglia characterized by strong, sustained twisting and writhing motions of the somatic muscles. Any muscle may be involved in these involuntary movements, but most often the muscles of the trunk and the limb girdles are affected producing torsion of the limbs and the vertebral column. Pathology. —The pathological basis for this condition has not been adequately described. Degeneration has been found in nerve cells of the cortex, striatum, pallidum, thalamus, corpus Luysii, substantia nigra, and dentate and olivary nuclei. According to Denny-Brown 9 the common pathological process is status marmoratus or etat marbre, a derangement of glial formation leading to hypermyelination. Clinical Picture. —In the great majority of cases the onset occurs between ages 5 and 15. There is usually a history of normal pregnancy, delivery,