Oromandibular Dystonia in Wilson's Disease

Abstract

Background: Movement disorder is common in Wilson's disease (WD), but there is no report on oromandibular dystonia (OMD). We report on frequency, severity, and MRI correlation of OMD in Wilson's disease with neurological manifestations (WDNM) and its response to treatment.

Methods: Consecutive WDNM patients were included and their clinical, hematological, serum chemistry, and MRI findings were noted. Neurological severity of WD and OMD were assessed. Burke-Fahn-Marsden (BFM) score for dystonia was noted. Patients were treated with penicillamine, zinc, and multiple antidystonic drugs. Clinical improvement at 3 and 6 months was noted.

Results: Overall, 61 of 67 (91%) WDNM patients had OMD, whose median age was 13.5 years. Median severity of OMD was 2.5 (range, 1-4). Thirteen patients were anarthric and 12 unable to eat. Severity of OMD correlated with drooling (r = 0.29; P = 0.02), BFM score (r = 0.63; P < 0.001), pancytopenia (r = -0.26; P = 0.04), and serum ceruloplasmin (r = 0.33; P = 0.01), but not with location and number of MRI lesions. Compared to baseline, severity of OMD improved at 6 months (P < 0.001), but not at 3 months. None became asymptomatic. Improvement in OMD paralleled with improvement in severity grade of WDNM (r = 0.26; P = 0.04) and with BFM score (r = 0.31; P = 0.02).

Conclusion: OMD was a common manifestation of WDNM occurring in 91% patients, and OMD improved partially over the study period.

Keywords: MRI; Wilson's disease; dystonia; movement disorder; oromandibular dystonia; outcome; penicillamine.

Figure 1

Severity of OMD in WD significantly correlated with drooling, BFM score, pancytopenia, and serum ceruloplasmin level.

Figure 2

Error bar diagram shows severity of OMD at different time points.

Figure 3

Fourteen‐year‐old boy with severe OMD and drooling resulting from WD.

Figure 4

MRI of the same patient in T2 (A, B, D, and F) and DWI (C and E) shows (A) corpus striatal and thalamic hyperintensity, (B) SN hyperintensity, (C and D) midbrain hyperintensity in T2 and DWI, and (E and F) pontine hyperintensity in DWI and T2 sequence.

Figure 5

Improvement in OMD at 6 months from baseline significantly correlated with improvement in BFM score and severity grade of WD. Graph shows difference of 6 mo score from baseline.