Importance of botulinum toxin in symptomatic treatment of Wilson's disease

Abstract

Background : Botulinum toxin (BT) has become a powerful therapeutic tool for the treatment of dystonia. Wilson disease (WD) is an autosomal recessive disorder of copper metabolism with symptoms potentially reversible with appropriate treatment. The clinical presentation is variable and neurological involvement could exist in 40–50% of patients. BT is crucial for dystonia treatment in WD, correcting abnormal postures and avoiding progression for fixed postures. Case-series : We present four clinical cases of young patients with definitive diagnosis of WD. All had severe distonia as a sign of neurological involvement and were treated with BT. The 4 patients had generalized distonia tendency to fixed postures. While the patients wait for neurological recovery with specific treatment (medical in 1 and hepatic transplantation in 3), BT was used at multiple levels (superior and inferior limbs) with the purpose of symptomatic relief and preservation of articular amplitude. After BT, pain improved and all patients had some functional recovery. Long-term results depended on the efficacy of specific therapy and follow-up period (short in 2 patients). Conclusion : BT treatment is important to improve quality of life in dystonic WD patients. Right after BT treatment, dystonic symptoms (motor disabilities and pain) improve. In long-term follow-up, by maintaining articular amplitude, BT treatment keeps the possibility of a recovery without sequelae.