Jaw-opening oromandibular dystonia secondary to Wilson’s Disease treated with botulinum toxin type A Distonia oromandibular com abertura da boca secundária à doença de Wilson tratada com toxina botulínica tipo A

Wilson’s disease (WD), or hepatolenticular degeneration, is a rare autosomal recessive inherited disease of cupper metabolism, which presents with hepatic, psychiatric, and neurological symptoms1-6. The prevalence rate of WD is estimated to be one case per 30,0001-6. WD is caused by mutations to the gene coding for ATPase copper transporting beta polypeptide (ATP7B), which is located on chromosome 13, allowing the incorporation of copper into ceruloplasmin and its subsequent excretion into the bile1,2,5-9. Neurologic signs include Parkinsonism, dysarthria, tremor, dystonia (particularly craniofacial and oromandibular), and cerebellar abnormalities. The safest and most efficient form of pharmacological therapy remains a matter of debate and includes the use of D-penicillamine and zinc1-6. Generally, treatment improves most neurological symptoms and signs to a variable degree. However, dystonic forms, particularly, oromandibular dystonia (OMD), with jaw-opening, are particularly resistant to the treatment1-6. The objective of our study was to evaluate the effects of botulinum toxin type A (BTX-A) injections for the treatment of jaw-opening OMD in patients with WD.