Dystonia-Predominant Adult-Onset Huntington Disease

Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults.

BACKGROUND In juvenile Huntington disease (HD), dystonia as well as parkinsonism and eye movement abnormalities may be the predominant motor signs rather than chorea. Several patients have come to our attention with adult-onset HD in whom there is prominent dystonia and minimal chorea (ie, an adult-onset form of HD that resembles juvenile HD). OBJECTIVES To estimate the prevalence of these ca...

Clinical features and natural history of axial predominant adult onset primary dystonia.

The clinical features and natural history of 18 patients with adult onset axial predominant severe truncal primary dystonia are presented. The mean age of onset was 41 (42 for men, 39 for women) and there was a higher proportion of men (10:8). Analysis of their clinical features and follow up over three to five years or more showed that these patients generally conform to the characteristics of...

A variant of adult-onset torsion dystonia?

SYNOPSIS Thirty-nine patients with the idiopathic blepharospasm-oromandibular dystonia syndrome are described. All presented in adult life, usually in the sixth decade; women were more commonly affected than men. Thirteen had blepharospasm alone, nine had oromandibular dystonia alone, and 17 had both. Torticollis or dystonic writer's cramp preceded the syndrome in two patients. Eight other pati...

Adult-onset dystonia in Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome (AGS) is a rare, genetically determined encephalopathy with features mimicking congenital infection (microcephaly, bilateral basal ganglia calcifications, cerebral white matter abnormalities, cerebral atrophy, chronic CSF lymphocytosis, and elevated CSF INF-a). Disease onset usually occurs during the first year of life as a subacute encephalopathy and then the clinica...

Huntington disease: prenatal screening for late onset disease.