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Truncal dystonia may occur due to different etiologies, aside from Wilson's disease (WD).[1, 2] The aim of this study was to evaluate the clinical characteristics of dystonia in patients with neurological WD, with particular focus on extensor truncal dystonia (ETD).

We performed a retrospective analysis from medical records, clinical interviews, and video records of 22 sequential Egyptian patients (14 males and 8 females; mean age, 19.9 years; standard deviation [SD], 6.3 years) who were diagnosed with neurological WD. Patients were recruited from the Department of Neurology, Ain Shams University and from the Yassin Abdelghaffar Charity Center for Liver Disease (Cairo, Egypt) between 2007 and 2011. Informed consent was obtained. The diagnosis of WD was established according to clinical history, examination, laboratory investigations, liver biopsy, magnetic resonance imaging (MRI) of the brain, and slit-lamp examination.[3]

Each patient underwent a full neurological examination, and dystonia was rated using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) as a total score and as a trunk subscore. Dysarthria and walking were rated using speech and walking subscales for the neurologic rating of WD, respectively.[4] Current treatment and compliance were determined as previously reported.[3]

The Student t test and the χ[2] test were used to analyze continuous and noncontinuous variables, respectively. Correlations were tested using the Spearman correlation test.

Table 1 summarizes the demographic, clinical characteristics, treatment, and MRI findings in patients who had neurological WD with and without dystonia. Fourteen patients had dystonia (63.6%; 57.1% had generalized dystonia, 28.6% had multifocal dystonia, and 14.3% had segmental dystonia), which was the presenting sign in 8 patients (36.3%). One patient developed status dystonicus with a fatal outcome.

Table 1. Clinical and MRI brain characteristics in patients with Wilson's disease with and without dystoniaa
 Mean ± SD [Range]/No. of Patients (%)  
CharacteristicPatients With WD: TotalWD With DystoniaWD Without DystoniaPbSignificance
  1. a

    Continuous variables are expressed as mean ± standard deviation (range, minimum-maximum).

  2. b

    Continuous variables were determined using the Student t test, and noncontinuous variables were calculated with the χ2 test.

  3. Abbreviations: BFMDRS, Burke-Fahn-Marsden Dystonia Rating Scale; GP, globus pallidus; KFR. Kayser-Fleischer ring; MRI, magnetic resonance imaging; NS, non-significant; S, significant; SD, standard deviation; WD, Wilson's disease.

No. of patients22 (100)14 (63.6)8 (36.4)  
Age, y19.9 ± 6.3 [11–38]20.8 ± 6.98 [11–38]18.4 ± 4.95 [13–25]0.358NS
Sex: Male/female14/89/55/30.642NS
No. with positive family history13 (59.1)8 (57.1)5 (62.5)0.546NS
Duration of illness, y7.4 ± 7.2 [0.5–30]8.3 ± 8.03 [0.5–30]6.1 ± 5.97 [0.5–16]0.489NS
Age of onset, y12.5 ± 4.1 [8–25]12.5 ± 4.74 [8–25]12.6 ± 3.33 [8–14]0.943NS
Neurological presentation9 (40.9)5 (35.7)4 (50)0.239NS
Parkinsonism13 (59.1)9 (40.9)4 (50)0.662NS
KFR17 (77.3)12 (85.7)5 (62.5)0.309NS
Dysarthria severity1.727 ± 1.3162.288 ± 1.2040.750 ± 0.8860.007S
Walking impairment1.409 ± 1.1411.857 ± 1.1670.625 ± 0.5170.006S
BFMDRS score 36.9 ± 29.94   
No. with extensor truncal dystonia11 (50)11 (87.6)   
Score 8.9 ± 3.73   
MRI brain abnormality     
Bilateral lentiform lesions19 (59.1)12 (85.7)7 (87.5)0.709NS
Bilateral lentiform and caudate lesions15 (68.2)10 (71.4)5 (62.5)0.510NS
Bilateral GP lesions10 (45.5)7 (50)3 (37.5)0.454NS
Brainstem lesions6 (27.3)5 (35.7)1 (12.5)0.255NS
Bilateral thalamic lesions5 (22.7)3 (21.4)2 (25)0.620NS
Treatment     
Compliant patients9 (40.9)5 (35.7)4 (50)0.616NS
D-penicillamine, mg403.41 ± 308.44; n = 16330.36 ± 257.61; n = 10531.25 ± 364.43; n = 60.146NS
Zinc sulfate, mg100 ± 76.38; n = 16108.93 ± 88.04; n = 1084.38 ± 51.65; n = 60.419NS

ETD was present in 11 dystonic patients (78.6%; mean age, 21.38 years; SD, 7.8 years; mean duration, 8.9 years; SD, 8.7 years) and was a predominant feature in 5 patients (35.7%) (see Video Segments 1 and 2). ETD was associated with lateral bending in 6 patients (54.5%), whereas no patients had flexed spine posturing (camptocormia). The mean trunk BFMDRS score was 8.9 (SD, 3.94) and was correlated significantly with dysarthria (r = 0.850; P = 0.001) and walking impairment (r = 0.711; P = 0.014), but not with age or duration of illness. Sixteen patients were receiving treatment with D-penicillamine, zinc, and symptomatic treatment (biperiden and/or baclofen). Nine of those patients (40.9%) were compliant. None of the patients received drugs known to exacerbate dystonia.

To our knowledge, this is the first study highlighting ETD as a common and disabling manifestation in WD. In our series, ETD was present in 50% and 78.6% of patients with neurological WD and dystonic WD, respectively, and had a positive correlation with walking impairment. These findings should be interpreted in relation to treatment noncompliance. ETD is a nonspecific feature and has been reported in both primary and secondary dystonias.[1, 2, 5] Its presence has prognostic and therapeutic implications. Despite the small number of patients studied here, the presence and recognition of ETD may be a useful clinical sign pointing toward the diagnosis of WD and contributing to an earlier diagnosis and improved management.

Overall, dystonia (63.3%) and dysarthria (86.3%) were the most common neurological manifestations in this cohort, in agreement with other studies.[6, 7] There was frequent MRI affection of the lentiform (85.7%) and the caudate (71.4%) nuclei. The recognition of clinical characteristics of WD is crucial to allow an early diagnosis.[3]

Legends to the Videos

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  2. Legends to the Videos
  3. Author Roles
  4. Financial Disclosures
  5. References
  6. Supporting Information

Video Segment 1. This patient aged 38 years developed Wilson's disease in childhood with hepatic impairment followed by neurological manifestations, mainly generalized dystonia. The video highlights the profound extensor truncal dystonia.

Video Segment 2. This Egyptian patient aged 15 years with diagnosed Wilson's disease developed status dystonicus with attacks of prominent extensor truncal dystonia (dystonic opisthotonus).

  • Ali S. Shalash, MD*

  • Department of Neurology

  • Ain Shams University

  • Cairo, Egypt

  • Solaf M. Elsayed, MD

  • Department of Pediatrics

  • Ain Shams University

  • Cairo, Egypt

  • Suzan Elnaghi, MD

  • National Hepatology and Tropical Medicine Research Institute

  • Cairo, Egypt

  • Susanne A. Schneider, MD

  • Department of Neurology

  • University Hospital Schleswig-Holstein

  • Christian-Albrechts University Kiel

  • Kiel, Germany

  • Tawhida Y. Abdel Ghaffar, MD

  • Department of Pediatrics

  • Ain Shams University

  • Cairo, Egypt

Author Roles

  1. Top of page
  2. Legends to the Videos
  3. Author Roles
  4. Financial Disclosures
  5. References
  6. Supporting Information

1. Research Project: A. Conception, B. Organization, C. Execution; 2. Statistical Analysis: A. Design, B. Execution, C. Review and Critique; 3. Manuscript Preparation: A. Writing the First Draft, B. Review and Critique.

A.S.S.: 1A, 1B, 1C, 2A, 2B, 3A

S.M.E.: 1B, 1C, 2C

S.E.: 1C, 2C

S.S.: 2C, 3B

T.Y.A.: 1C, 2C, 3B

Financial Disclosures

  1. Top of page
  2. Legends to the Videos
  3. Author Roles
  4. Financial Disclosures
  5. References
  6. Supporting Information

Ali S. Shalash has received grants/research support from the European Federation of Neurological Societies (department-to-department program). Suzan Elnaghi receives a salary from the National Hepatology and Tropical Medicine Research Institute. Susanne Schneider has received grants/research support from the Bosch Foundation, the Novartis Foundation, and the Eva Luise and Horst Köhler Foundation; she receives royalties from Oxford University Press; and she receives a salary from the University of Kiel. Ali S. Shalash, Solaf M. Elsayed, and Tawhida Y. Abdelghaffar receive salaries from Ain Shams University.

References

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  2. Legends to the Videos
  3. Author Roles
  4. Financial Disclosures
  5. References
  6. Supporting Information

Supporting Information

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  2. Legends to the Videos
  3. Author Roles
  4. Financial Disclosures
  5. References
  6. Supporting Information

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