Return to participation - significant improvement after bilateral pallidal stimulation in rapidly progressive DYT-1 dystonia.
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.
Borggraefe
I
I
Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner's Children's Hospital, University of Munich, Munich, Germany. ingo.borggraefe@med.uni-muenchen.de
Boetzel
K
K
Boehmer
J
J
Berweck
S
S
Mueller-Felber
W
W
Mueller
K
K
Mehrkens
J H
JH
Heinen
F
F
D002648:Child; D046690:Deep Brain Stimulation / Q000379:methods*; D004185:Disability Evaluation; D020821:Dystonic Disorders / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D005260:Female; D005917:Globus Pallidus / Q000502:physiology* / Q000601:surgery; D006801:Humans; D008279:Magnetic Resonance Imaging; D017063:Outcome Assessment, Health Care; D012720:Severity of Illness Index; D016896:Treatment Outcome