Dysautonomic features in patients with Cuban type 2 spinocerebellar ataxia

Introduction. Dysautonomic features are the clinical signs and symptoms derived from anomalous functioning of the sympathetic or parasympathetic nervous systems in either the peripheral or central parts. Objective. To identify the clinical features related to dysautonomia in a patient with spinocerebellar ataxia with severe functional disability. Patients and methods. We studied a series of cases, including 21 patients with severe disability (confirmed to their bed or wheelchair. unable to walk and totally or partly dependent on other people for essential everyday activities). The patients and their families were closely questioned, and full clinical examination included a test for orthostasia. Results. All patients had some signs of peripheral dysautonomia: all had vasomotor disorders (orthostasia, distal pallor and coldness, Raynaud's phenomenon, etc.). 95.2% (constipation, urinary and rectal incontinence, polachuria, palpitations, tachycardia at rest, etc.), exocrine gland disorders in 71.4% (increased lachrymation, reduced sweating, increased or reduced salivation), 87.5% peripheral tissue nutrition disorders. Similarly, in all patients studied there was evidence of central dysautonomic disorder, with a syndrome of cachexia with bulimia, sleep disorders together with dysregulation of thirst and body temperature. Conclusions. In patients with type 2 hereditary spinocerebellar ataxia with severe disability there was involvement of the peripheral and central nervous system regulating autonomic function.