Torsion Dystonia With Onset In Infancy


Mostofsky et al. (1996) reported a father and his daughter with torsion dystonia that could not be attributed to exogenous factors or other neurologic disorders. The first signs of the disorder in both patients appeared during the first year of life. The main manifestations included generalized dystonia with severe involvement of the legs and mild involvement of the face and arms, no progression of symptoms after 10 years of age, no evidence of parkinsonism, and no intellectual, cerebellar, or sensory involvement. Among 850 cases of idiopathic torsion dystonia (128100) collected from the literature, the authors found only 2 reports with onset before 3 years of age; the inheritance pattern in these 2 cases was not reported. No response to dopaminergic agents excluded dopa-responsive dystonia (128230). Mostofsky et al. (1996) suggested that the disorder in this family may represent a distinct autosomal dominant dystonia syndrome.