Cervical dystonia: about familial and sporadic cases in 88 patients

Abstract

Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001). The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01). Generalized cases were more severe in patients with a family history (p<0.01). Sporadic patients had higher levels of pain than familial cases (p<0.05). We expect soon to present the results of genetic analyzes of these patients.

Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland

“…A family history of dystonia in these remaining 19 patients cannot be confirmed; Leube and colleagues suggest that patient report is likely to significantly underestimate actual rates of dystonia amongst family members [6]. Reported rates of family history of dystonia in seemingly sporadic AOIFD vary from 26.1% [53], 18% [6] to 9.1% [28]. The patterns of inheritance observed in this study would support an autosomal dominant transmission of genes predisposing to dystonia, with reduced penetrance.…”

Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?

“…Camargo et al . [ 24 ] demonstrate this possibility also in a family with dystonia DYT6, in which a patient presented segmental clinical signs initiated in adolescence and another, generalized clinical signs with onset on childhood.…”

Collum-caput (COL-CAP) concept for conceptual anterocollis, anterocaput, and forward sagittal shift

“…CACOL, ACAP, or FSS may be due to genetic (primary) or secondary causes. In primary sporadic cases, the family history is negative, whereas in hereditary cases the family history is usually positive [9]. Secondary causes of CACOL include degenerative cervical spine disease, infection [10], immunological disease [11], hypoxia [12], trauma [13], vascular malformation of the central nervous system (CNS) [14], drugs (olanzapine) [15,16], focal or diffuse brain damage, or chemical agents [16].…”