Speech Disturbances in Patients With Dystonia or Chorea Due to Neurometabolic Disorders Constance Flamand-Rouvie `re, ST, 1 * Emilie Guettard, MD, 2 Caroline Moreau, MD, 3 Nadia Bahi-Buisson, MD, PhD, 4,5 Vassili Valayannopoulos, MD, 4,6 David Grabli, MD, PhD, 7 Jacques Motte, MD, PhD, 8 Diana Rodriguez, MD, PhD, 9 Agathe Roubertie, MD, PhD, 10 Lisa Maintigneux, ST, 1 Isabelle Kemlin, MD, 9 Ire `ne Ceballos-Picot, PHARMD, PhD, 11 David Adams, MD, PhD, 1 Marie Vidailhet, MD, 7 and Emmanuel Roze, MD, PhD, 5,7,12,13 1 Service de Neurologie, CHU de Biceˆtre, AP-HP, Le Kremlin Biceˆtre, France 2 Service de me´decine physique et de re´adaptation, Hoˆpital Fernand Widal, AP-HP, Paris, France 3 Service de neurologie et pathologie du mouvement, IMPRT, Lille EA 2683, IFR 114, France 4 Service Neurologie Pe´diatrique et Maladies me´taboliques, Hoˆpital Necker Enfants Malades, Universite´Paris-Descartes, AP-HP, Paris, France 5 Commission Mouvements Anormaux, de la Socie´te´Franc ¸aise de Neurologie Pe´diatrique, France 6 Centre de Re´fe´rence des Maladies He´re´ditaires du Me´tabolisme, Hoˆpital Necker Enfants Malades, Universite´Paris-Descartes, Paris, France 7 Poˆle des maladies du syste`me nerveux, Fe´de´ration de Neurologie, Groupe Hospitalier Pitie´-Salpeˆtrie`re, AP-HP, Paris, France 8 Unite´de neurologie pe´diatrique, American Memorial Hospital, CHU Reims, France 9 Service de neurope´diatrie, Universite´Pierre et Marie Curie, Paris VI, Hoˆpital Armand Trousseau, AP-HP, Paris, France 10 Service de Neurologie Pe´diatrique, CHU, Montpellier, France 11 Service de Biochimie Me´tabolique, Hoˆpital Necker Enfants Malades, Universite´Paris-Descartes, AP-HP, Paris, France 12 Centre d’Investigation Clinique, 9503, INSERM, AP-HP, Paris, France 13 CNRS UMRS 952, INSERM UMR 7224, Universite´Pierre et Marie Curie Paris VI, Paris, France Abstract: Speech disturbances are frequent and potentially disabling in patients with dystonia or chorea due to neurome- tabolic disorders (DCND), but their precise characteristics are poorly documented. We prospectively studied 29 consecutive patients with DCND. A detailed description of their speech patterns was obtained by using the Frenchay dysarthria assessment test and the apraxia of speech evaluation test of Wertz. Gross motor function and intelligibility were each scored on 5-point scales to identify a possible correlation between the severity of the speech and motor disorders. All the patients were found to have complex speech alterations with combined features of hyperkinetic dysarthria and speech apraxia. We also noted a correlation between the severity of the speech disorders and the motor disorders. These findings have important implications for speech rehabilitation, and may provide new insights into the pathophysiology of dysto- nia due to neurometabolic disorders. Ó 2010 Movement Dis- order Society Key words: speech apraxia; hyperkinetic dysarthria; dys- tonia; glutaric aciduria type 1; Lesch-Nyhan disease; GM1 gangliosidosis type 3 Speech disturbances are frequent and potentially dis- abling in patients with dystonia or chorea due to neuro- metabolic disorders (DCND), particularly glutaric aciduria type 1 (GA1), Lesch-Nyhan disease (LND), and GM1 gangliosidosis type 3 (GM1g3). 1–3 They are often an early manifestation, and remain a prominent feature throughout the disease course. In two large se- ries of GA1 patients, dysarthria was present in 64% of Potential conflict of interest: Nothing to report. *Correspondence to: Constance Flamand-Rouvie `re, Service de Neurologie, Centre, Hospitalier Universitaire de Bice ˆtre, 78 rue du Ge ´ne ´ral Leclerc, Le Kremlin Bice ˆtre Cedex 94275, France. E-mail: constance.rouviere@bct.aphp.fr Received 5 January 2010; Revised 5 February 2010; Accepted 9 March 2010 Published online 14 May 2010 in Wiley InterScience (www. interscience.wiley.com). DOI: 10.1002/mds.23134 1605 Movement Disorders Vol. 25, No. 11, 2010, pp. 1605–1611 Ó 2010 Movement Disorder Society