Severe Tongue Protrusion in Dystonic Syndromes
Severe Tongue Protrusion in Dystonic Syndromes
Abstract & Commentary
By Claire Henchcliffe, Assistant Professor, Department of Neurology, Weill Medical College, Cornell University. Dr. Henchcliffe is on the speaker's bureau for GlaxoSmithKline, Teva/Eisai, and Boehringer Ingelheim.
Synopsis: Severe tongue protrusion dystonia is disabling and occasionally life-threatening, and may suggest either a secondary cause or particular heredodegenerative diseases.
Source: Schneider SA, et al. Severe tongue protrusion dystonia: Clinical syndromes and possible treatment. Neurology. 2006;67:940-943.
This case series of 8 patients (6 men, 2 women, age range 18-62 years) describes rare examples of severe tongue protrusion dystonia, with text accompanied by startling videotaped examinations (available as supplemental material at www.neurology.org). Patients comprised a heterogeneous group of pre-existing dystonic syndromes due to pantothenate kinase-associated neurodegeneration (PKAN) (n = 3), neuroacanthocytosis (n = 1), postnatal ischemic encephalopathy (n = 1), Lesch-Nyhan syndrome (n = 1), presumed tardive dystonia (n = 1), and generalized non-DYT1 familial dystonia (n = 1). Life-threatening exacerbations in 2 required intubation and intensive care management; one had choking and respiratory compromise as a result of tongue protrusion, and a second required intubation after tongue biting led to almost complete severance of the anterior tongue. In a third case (neuroacanthocytosis), tongue thrusting was severe enough to perforate the lower lip. Self-mutilation was also observed in 3 patients (PKAN, Lesch-Nyhan, neuroacanthocytosis). Botulinum toxin injections of the genioglossus muscle were successful in 2 patients. However, increasing toxin dose led to side effects of dysphagia and respiratory difficulties in one patient, resulting in hospitalization. One patient with PKAN underwent bilateral pallidal deep brain stimulation, with partial benefit for generalized dystonia, and complete resolution of tongue protrusion dystonia. A second patient (postnatal ischemic encephalopathy) also obtained marked benefit from this surgery; interestingly, in the context of a brain MRI revealing bilateral globus pallidus atrophy.
Commentary
Tongue protrusion dystonia rarely presents in such severe forms as described here. As Schneider and colleagues report, however, it may lead to movement disorder emergencies, requiring endotracheal intubation and intensive care. Symptoms were disabling to patients, and distressing enough that the accompanying videotape is actually accompanied by a warning to viewers. Despite being purely descriptive, given the paucity of literature regarding this pattern of dystonia, the present article is of much interest. Of the 8 cases, only one had primary generalized dystonia, and the remainder had secondary dystonia or heredodegenerative diseases. Previous reports also describe tongue protrusion dystonia in Wilson disease,1 neuroferritinopathy,2 and other conditions. Its occurrence in the setting of generalized dystonia in the clinic should, therefore, prompt work up, including brain imaging, a blood smear, testing for Wilson disease, and genetic testing in the appropriate context. There is scant information in the literature on management of this condition. Medications seem to be of limited use, although clonazepam and tetrabenazine (not yet available in the United States) were of help in some cases. Schneider et al suggest considering local injections of botulinum toxin into the genioglossus muscles, although potential complications include dysphagia and difficulty breathing (occurring in one of the 2 cases receiving botulinum toxin injections in this series). As more patients undergo deep brain stimulation for generalized dystonia, it will be helpful to see whether tongue dystonia responds as well as in the 2 cases described here.
References
1. Kumar TS, Moses PD. Isolated tongue involvement —an unusual presentation of Wilson's disease. J Postgrad Med. 2005;51:337.
2. Crompton DE, et al. Spectrum of movement disorders in neuroferritinopathy. Mov Disord. 2005;20:95-99.
Severe tongue protrusion dystonia is disabling and occasionally life-threatening, and may suggest either a secondary cause or particular heredodegenerative diseases.Subscribe Now for Access
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