Clinical-epidemiological characterization of hereditary ataxias in Santiago de Cuba

Abstract

The hereditary Spinocerebellar Ataxias, are heredodegenerative diseases of hereditary autosomal dominant, recessive, or linked to the X chromosome nature, although sporadic cases can be observed. Clinically are characterized by ataxia of gait, dysmetria, adiadococinesia, dysarthria, alterations of deep reflexes and muscle tone. A study was made in two phases, a descriptive in order to determine the prevalence of the hereditary Spinocerebellar Ataxias in Santiago de Cuba population, as well as to describe the clinical features of these patients and the second phase was analytical, with a design of cases and controls nested to establish the differences between genetic patterns, neurophysiological, imaging and gait of these patients during the period between the years 2008 to 2010. Results showed that Santiago de Cuba has a prevalence of 4.22; municipalities with higher rate were Mella and II Frente. 14 families were found so far, 45 are now living in the province. The most relevant signs and symptoms were the limb loss, dysarthria, ataxia of gait and the coordination. The genetic and molecular study showed that families found the phenomenon of genetic anticipation in all generations. The visual evoked potential had a significant prolongation of the latency. Decrease size of extrusion was found in measurements morphometric made to the brain stem. The study of locomotion, the variable which had more alteration was the speed of the walk, affecting in both sexes.