Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry

Creators: Retailleau, Emilie; Lefeuvre, Claire; de Antonio, Marie; Bouhour, Françoise; Tard, Celine; Salort-Campana, Emmanuelle; Lagrange, Emmeline; Béhin, Anthony; Solé, Guilhem; Noury, Jean Baptiste; Sacconi, Sabrina; Magot, Armelle; Pakleza, Aleksandra Nadaj; Orlikowski, David; Beltran, Stéphane; Spinazzi, Marco; Cintas, Pascal; Fournier, Maxime; Bouibede, Fatma; Prigent, Hélène; Nicolas, Guillaume; Taouagh, Nadjib; El Guizani, Taissir; Attarian, Shahram; Arrassi, Azzeddine; Hamroun, Dalil; Laforêt, Pascal

Others:: Hôpital Raymond Poincaré [AP-HP]; CHU Clermont-Ferrand; Hospices Civils de Lyon (HCL); Centre Hospitalier Régional Universitaire [CHU Lille] (CHRU Lille); Université de Lille; Lille Neurosciences & Cognition - U 1172 (LilNCog) ; Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [CHU Lille] (CHRU Lille); Hôpital de la Timone [CHU - APHM] (TIMONE); Neurologie, maladies neuro-musculaires [Hôpital de la Timone - APHM] ; Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone [CHU - APHM] (TIMONE); Centre Hospitalier Universitaire [CHU Grenoble] (CHUGA); CHU Pitié-Salpêtrière [AP-HP] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU); Institut de Myologie ; Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS); Université de Bordeaux (UB); Hôpital Pellegrin ; CHU Bordeaux-Groupe hospitalier Pellegrin; Lymphocytes B, Autoimmunité et Immunothérapies (LBAI) ; Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-LabEX IGO Immunothérapie Grand Ouest ; Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Institut Brestois Santé Agro Matière (IBSAM) ; Université de Brest (UBO); Centre Hospitalier Régional Universitaire de Brest (CHRU Brest); Université Côte d'Azur (UniCA); Centre Hospitalier Universitaire de Nice (CHU Nice); Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes); Centre Hospitalier Universitaire [Strasbourg] (CHU Strasbourg) ; Les Hôpitaux Universitaires de Strasbourg (HUS); Centre d'Investigation Clinique 1429 [Garches] (CIC 1429) ; Hôpital Raymond Poincaré [AP-HP]-Institut National de la Santé et de la Recherche Médicale (INSERM); Hôpital Raymond Poincaré (Garches) [GHU AP-HP Université Paris-Saclay] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP); Université de Tours (UT); Centre Hospitalier Universitaire d'Angers (CHU Angers) ; PRES Université Nantes Angers Le Mans (UNAM); Centre Hospitalier Universitaire de Toulouse (CHU Toulouse); CHU Caen ; Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN); Centre Hospitalier Régional d'Orléans (CHRO); Université de Versailles Saint-Quentin-en-Yvelines (UVSQ); Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP) ; Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM); Hôpital Arnaud de Villeneuve [CHRU Montpellier] ; Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

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© 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.Background and purpose: Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase. Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its frequency and functional impact on patients daily life. Methods: We reviewed 100 adult LOPD patients followed in 17 hospitals in France included in the French national Pompe disease registry. The Swallowing Quality of Life Questionnaire and the Sydney Swallow Questionnaire were completed by patients, and a specialist carried out a medical examination focused on swallowing and assigned a Salassa score to each patient. Respiratory and motor functions were also recorded. Subgroup analysis compared patients with and without swallowing difficulties based on Salassa score. Results: Thirty-two percent of patients presented with swallowing difficulties, often mild but sometimes severe enough to require percutaneous endoscopic gastrostomy (1%). Daily dysphagia was reported for 20% of our patients and aspirations for 18%; 9.5% were unable to eat away from home. Macroglossia was described in 18% of our patients, and 11% had lingual atrophy. Only 15% of patients presenting with swallowing disorders were followed by a speech therapist. Swallowing difficulties were significantly associated with macroglossia (p = 0.015), longer duration of illness (p = 0.032), and a lower body mass index (p = 0.047). Conclusions: Swallowing difficulties in LOPD are common and have significant functional impact. Increased awareness by physicians of these symptoms with systematic examination of the tongue and questions about swallowing can lead to appropriate multidisciplinary care with a speech therapist and dietitian if needed.

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Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry

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