Return to Participation – Significant Improvement after Bilateral Pallidal Stimulation in Rapidly Progressive DYT-1 Dystonia

Abstract

We report the case of an 8-year-old girl who developed progressive generalized dystonia, rendering her unable to walk and sit within months despite medical therapy with dopamine and anti-cholinergic agents. She was found to have a 9q34.1 GAG-deletion, which is known to cause DYT1-dystonia. DYT-1 dystonia is an autosomal dominant condition with incomplete penetrance that usually starts in childhood. It is known to be refractory to pharmacotherapy. Reports on deep brain stimulation in this condition reveal marked benefits of the treatment in the pediatric and adult populations. The patient underwent bilateral stimulation of the internal globus pallidus 18 months after symptom onset. Postoperatively, her clinical status improved significantly as measured by the Burke-Fahn-Marsden dystonia rating scale and the resolution of a unilateral hip dislocation. Normal participation was regained.

Key words

DYT1 - generalized dystonia - pallidal stimulation - children

References

• 1 Burke RE, Fahn S, Marsden CD. et al . Validity and reliability of a rating scale for the primary torsion dystonias.  Neurology. 1985;  35 73-77
• 2 Coubes P, Roubertie A, Vayssiere N. et al . Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus.  Lancet. 2000;  355 2220-2221
• 3 Eltahawy HA, Saint-Cyr J, Giladi N. Primary dystonia is more responsive than secondary dystonia to pallidal interventions: outcome after pallidotomy or pallidal deep brain stimulation.  Neurosurgery. 2004;  54 613-619 , ; discussion 619-621
• 4 Holloway KL, Baron MS, Brown R. et al . Deep brain stimulaton for dystonia: A meta-analysis.  Neuromodulation. 2006;  9 253-261
• 5 Kiss ZH, Doig-Beyaert K, Eliasziw M. et al . The Canadian multicentre study of deep brain stimulation for cervical dystonia.  Brain. 2007;  130 2879-2886
• 6 Konakova M, Huynh DP, Yong W. et al . Cellular distribution of torsin A and torsin B in normal human brain.  Arch Neurol. 2001;  58 921-927
• 7 Kupsch A, Benecke R, Muller J. et al . Pallidal deep-brain stimulation in primary generalized or segmental dystonia.  N Engl J Med. 2006;  355 1978-1990
• 8 Laitinen LV. CT-guided ablative stereotaxis without ventriculography.  Appl Neurophysiol. 1985;  48 18-21
• 9 Nemeth AH. The genetics of primary dystonias and related disorders.  Brain. 2002;  125 695-721
• 10 Ozelius LJ, Hewett JW, Page CE. et al . The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.  Nat Genet. 1997;  17 40-48
• 11 Parr JR, Green AL, Joint C. et al . Deep brain stimulation in childhood: an effective treatment for early onset idiopathic generalised dystonia.  Arch Dis Child. 2007;  92 708-711
• 12 Sanger TD, Delgado MR, Gaebler-Spira D. et al . Classification and definition of disorders causing hypertonia in childhood.  Pediatrics. 2003;  111 e89-97
• 13 Stucki G, Melvin J. The International Classification of Functioning, Disability and Health: a unifying model for the conceptual description of physical and rehabilitation medicine.  J Rehabil Med. 2007;  39 286-292
• 14 Uc EY, Rodnitzky RL. Childhood dystonia.  Semin Pediatr Neurol. 2003;  10 52-61
• 15 Vidailhet M, Vercueil L, Houeto JL. et al . Bilateral deep-brain stimulation of the globus pallidus in primary generalized dystonia.  N Engl J Med. 2005;  352 459-467

Appendix

Video segment 1: Dystonia of the left leg interfering with gait (10 months after onset).

Video segment 2: Generalized dystonia with inability to walk (14 months after onset).

Video segment 3: Generalized dystonia with severely affected motor function and inability to sit with marked pathological posturing (18 months after onset and just before DBS).

Video segment 4: Significant relief of clinical symptoms 8 months after DBS with complete restored ability no walk. Note that the patient now wears glasses due to hyperopia.

Online content including video sequences viewable at: www.thieme-connect.de/ejournals/toc/neuropediatrics

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