Lauren E. Penz, MD
Resident Physician
Mayo Clinic
Rochester, Minnesota, United States
Emily A. Hines, MD
Physiatrist
Mayo Clinic
Rochester, Minnesota, United States
Michael C. Wainberg, MD
Physiatrist
Mayo Clinic
Rochester, Minnesota, United States
Neurologic presentation of Wilson’s disease
Case Description:
A 27-year-old female was admitted to inpatient rehabilitation for functional limitations in the setting of Wilson’s disease with neurologic involvement. Her symptoms included painful dystonia, rigidity, and tremor. These caused impairments in functional mobility including gait instability, impairments in activities of daily living, dysphagia, and impairments in communication with dysarthria and hypophonia. Her treatment included a chelating agent, oral baclofen, diazepam, carbidopa-levodopa, and several analgesic medications. She had minimal improvement in symptom burden. While on the rehabilitation unit, she was trialed on trihexyphenidyl, however, this had to be discontinued due to anticholinergic side effects. Tizanidine provided limited benefit complicated by sedation. The patient participated in speech, physical, and occupational therapy. Despite these medical and therapeutic interventions, she continued to have significant symptom burden with profound functional limitations. Considerations for future management of dystonia at discharge included botulinum toxin injections, intrathecal baclofen, and deep brain stimulation consultation.
Discussions:
Neurologic involvement in Wilson’s disease may be difficult to manage. This case exemplifies the treatment modalities that may be considered for painful dystonia as well as the challenges with rehabilitation management of Wilson’s disease. There are currently no controlled clinical trials to guide management of painful dystonia in Wilson’s disease. Optimal symptom management requires individualized implementation of therapeutic strategies with regular reassessment of clinical response.
Conclusions:
Management of neurologic symptoms in Wilson’s disease is challenging yet critical for improving mobility and overall function, quality of life, and reducing pain. Management options include physical, occupational, and speech therapy; oral medications; botulinum toxin injections; intrathecal baclofen; and deep brain stimulation. High quality research is needed to inform treatment approach and the efficacy of different modalities in Wilson’s disease.
