Long-term evaluation of low-dose betamethasone for ataxia telangiectasia

Abstract Background Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Quality of life is severely impaired by neurological symptoms. However, curative options for the neurological symptoms are limited. Recent studies have demonstrated short-term improvement in neurological symptoms with betamethasone therapy. However, the long-term benefits and adverse effects of betamethasone are unclear. The aim of this study was to evaluate the long-term effects, benefits, and adverse effects of low-dose betamethasone in A-T. Methods Six A-T patients received betamethasone at 0.02 mg/kg/day for 2 years. After cessation of betamethasone, the patients were observed for 2 additional years. Neurological assessments were performed and adverse effects were monitored every 3 months throughout the 4-year study period. Results Transient improvement of neurological symptom was observed in five of the six patients. However, after 2 years betamethasone treatment, only one of the six patients showed a slight improvement in the neurological score, while one patient showed no change, and the neurological scores of the remaining four patients deteriorated. After the cessation of betamethasone treatment, neurological symptoms worsened in all patients. As an adverse effect of betamethasone, transient adrenal dysfunction was observed in all cases. Conclusions Although these findings are in agreement with previous studies suggesting that short-term betamethasone treatment transiently benefits A-T patients, the long-term benefits and risks should be carefully considered.