Portal de Periódicos da CAPES

Tongue protrusion and feeding dystonia: A hallmark of chorea-acanthocytosis

2009; Wiley; Volume: 25; Issue: 1 Linguagem: Inglês

10.1002/mds.22863

1531-8257

Benedikt Bader, Ruth H. Walker, Mathias Vogel, Mario Prosiegel, Jacqueline McIntosh, Adrian Danek,

Metabolism and Genetic Disorders

Neuroacanthocytosis syndromes are a group of rare disorders characterized by neurodegeneration and thorny erythrocytes.1 Chorea-acanthocytosis (ChAc, OMIM 200150) is the main entity within this group and is one differential diagnosis of Huntington's disease (HD).1 Besides VPS13A sequencing2 demonstration of absence of its protein product (chorein) on Western blot3 can be used alternatively. In early stages, the phenotype often comprises dysphagia and tongue dystonia4 and appears quite indicative of ChAc. Here, we report two cases in which action-induced tongue protrusion was a striking and early finding. Case 1: This 30-year-old woman presented with orofacial chorea, dysphagia, dysarthria, and vocalizations. At age 28, after repeatedly biting her cheeks and tongue, she was diagnosed with borderline personality disorder. She had two generalized tonic-clonic seizures at age 29. On examination, she showed chorea of the limbs and reduced ankle reflexes. Increasing orofacial and limb chorea, chronically elevated creatine kinase (CK) levels and acanthocytosis (20%) suggested a diagnosis of ChAc. Absence of chorein in erythrocyte membranes4 was found. Case 2: This 30-year-old woman developed throat clicking and bruxism at age 24. Dysphagia and feeding dystonia were first noted at the age of 25, along with dysarthria, memory lapses, and vocal tics. She subsequently began biting her tongue and developed involuntary stereotypic movements, seizures, cognitive decline, and gait difficulties. On examination, she showed dysarthria, chorea, dystonia, ataxia, and hyporeflexia. Laboratory testing was significant for acanthocytosis and elevated CK levels. Heterozygous mutations were found in VPS13A (Case 23).5 Especially while eating, both patients demonstrate striking involuntary tongue movements and accompanying jaw opening. Forceful protrusion of the tongue only occurs during this action (see video), following which the patients are able to voluntarily retract the tongue. In a videofluoroscopic swallow study (VFSS) of Case 2, the pharyngeal phase was intact, whereas her oral phase was impaired by the tongue protrusion. Once the food bolus passed the upper sphincter of the esophagus, deglutition was carried out normally. Both patients tried to bypass the oral phase by strongly pressing their lips together to close their mouths while chewing, by extending the head if the tongue protruded, or else by extending the neck so that food fell into the pharynx posterior to the tongue, greatly increasing the risk of aspiration. Swallowing was effortful as suggested by the accompanying eye closure. In the VFSS, the tongue is not protruding against occluded teeth but is combined with wide opening of the jaw. The second patient's video shows that dysarthria in ChAc is marked by syllable iterations at the beginning of words and by impaired initiation of speech. When talking, the tongue of neither patient showed marked protrusion. However, since jaw closure occasionally was incomplete, it was possible to observe slight dystonic movements of the tongue, moving anterior to the teeth. Prominent tongue protrusion dystonia in ChAc occurs when placing solid food into the mouth, with chewing and swallowing food or with manipulations in the orolingual region but was absent at rest, in contrast to the spontaneous tongue protrusion described in other diseases.4 Dysphagia in ChAc differs from that observed in Huntington's disease (HD) who encounter difficulties mainly because of head and neck hyperextension, tachyphagia, and nonprotruding lingual chorea during the oral phase.6 Furthermore, movement disorder in HD directly affects also the pharyngeal and esophageal phases, while these appear to be intact in our ChAc patients. Action-induced tongue protrusion dystonia as seen in ChAc is not described in HD. Nonfood objects like toothpicks or cloth do not provoke tongue dystonia but may be used as a sensory trick, or as a mechanical obstruction to avoid involuntary jaw closure. The combination of masseter muscle and tongue protrusion dystonia appears to be the cause of the common mutilations of tongue, lips, and cheeks in ChAc and may result in significant weight loss and lethal infection.7 Mild tongue dystonia was observed on talking, swallowing saliva, and drinking. Being aware of these involuntary movements, patients sometimes incorporate them into parakinesias such as lip smacking. We suggest that action-induced tongue protrusion and feeding dystonia is a highly specific hallmark for ChAc, often seen early in the course of disease. Particularly in combination with chronically elevated CK levels in young adults, this symptom has high diagnostic value. Sequence 1. Patient 1 shows slight speech impairment such as iterations at the beginning of words. Tongue protrusion and jaw opening occur when she places a morsel of food in her mouth. Please, note the absence of further abnormal movements. Sequence 2. Patient 2 displays an almost identical action-induced tongue protrusion while eating. Sequence 3. VFSS sequence of Patient 2 shows feeding and chewing interrupted by tongue protrusion dystonia, with subsequent normal esophageal phase. Sequence 4. Patient 2 displays dysarthria and iterations while talking about her tongue movements and eating difficulties.1 While eating a pretzel, Patient 1 with ChAc demonstrates action-induced tongue protrusion. The authors thank Mrs. Andrea Hofmayer (Asklepios, Bad Tölz, Germany) and Mrs. Doro Kühnau (Rehabilitation Center, Nittenau, Germany) for their advice on speech pathology. Financial Disclosure: Benedikt Bader: Supported by the Advocacy for Neuroacanthocytosis Patients, supported by the Bayerische Forschungsallianz, received travel funding from the Bundesministerium für Bildung und Forschung; Ruth H. Walker: Supported by Intellyst Medical Communication, for speaking on Huntington's disease, supported by Scienta Healthcare education for advice on construction of a Huntington's disease case study for CME-accredited on-line program; Mathias Vogel: none; Mario Prosiegel: none; Jacqueline McIntosh: none; Adrian Danek: Receives travel funding from Pfizer, Editorial board of "Zeitschrift für Gerontoneurologie," receives royalties from publishing "Klinische Untersuchung der höheren Hirnleistungen" (Kohlhammer Verlag, 2008), has received speaker honoraria from Merz, Pfizer, and Neuro-Update, receives research support as Principal Investigator from Bayerische Forschungsstiftung (of Federal Government of Bavaria), Münchner Universitätsgesellschaft, Deutsch-Französische Hochschulstiftung, and Advocacy for Neuroacanthocytosis Patients, has served as an expert witness for German courts of justice in medico- legal cases, supported by the Advocacy for Neuroacanthocytosis Patients. B. Bader: Conception, organization, and execution of research project, design of data analysis and patients, writing of the first draft of the manuscript; R.H. Walker: Review and critique of data analysis and patients, review and critique of manuscript; M. Vogel: Data interpretation and review and critique of data analysis and patients, review and critique of manuscript; M. Prosiegel: Data interpretation and review and critique of data analysis and patients, review and critique of manuscript; J. McIntosh, Design, data interpretation, and review and critique of data analysis and patients, review and critique of manuscript; A. Danek: Conception of research project, review and critique of manuscript. Additional Supporting Information may be found in the online version of this article. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article. Benedikt Bader MD*, Ruth H. Walker MB, ChB, PhD , Mathias Vogel PhD , Mario Prosiegel MD§, Jacqueline McIntosh¶, Adrian Danek MD*, * Neurologische Klinik und Poliklinik Ludwig-Maximilians-Universität München, Germany, Department of Neurology James J. Peters Veterans Affairs Medical Center Bronx, New York Mount Sinai School of Medicine New York, New York, Clinic of Neuropsychology Klinikum Bogenhausen München, Germany, § Center for Dysphagia Fachklinik Bad Heilbrunn Bad Heilbrunn, Germany, ¶ Wolfson Neurorehabilitation Centre London, United Kingdom.