Problems and possibilities in the differential diagnosis of Syndrome Spinocerebellar Ataxia.
Differential diagnosis in neurologic patients with spinocerebellar syndrome is complex as a result of the great degree of variability in phenotypic and genetic aspects of more than 200 nosological entities. In the past decade, genetic etiology has been discovered in part of the diseases and the term ''spinocerebellar ataxia'' has become, from a neurologic point of view, a loose definition applied to a group of autosomal dominant diseases. Topical extensive literature about differential diagnoses of ataxias usually refers to genetics classification or is produced by a group of radiologists, elektrophysiologists and biologists as well as others in the field. A further problem is that the majority of studies do not take into account other acquired illnesses and diseases which may fundamentally alter the symptomology and course of a primary disease, not to mention the possibility of concomitancy in hereditary diseases. The following article was prompted by daily contact with ataxic patients and related issues raised by colleagues; its goal is to clarify problems faced by child neurologists and neurologists in clinical practice.
Zumrová
Alena
A
2nd Medical Faculty Neurogenetic Centre, Motol Medical Hospital, Prague, Czech Republic. alena.zumrova@lfmotol.cuni.cz
D002648:Child; D002675:Child, Preschool; D002985:Clinical Protocols; D003663:Decision Trees; D003937:Diagnosis, Differential; D005192:Family Health; D006801:Humans; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome