Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
French Pompe registry
dysphagia
glycogenosis type II
late onset Pompe disease
macroglossia
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
07 Aug 2024
07 Aug 2024
Historique:
revised:
18
07
2024
received:
13
02
2024
accepted:
19
07
2024
medline:
7
8
2024
pubmed:
7
8
2024
entrez:
7
8
2024
Statut:
aheadofprint
Résumé
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. 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. 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). 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.
Sections du résumé
BACKGROUND AND PURPOSE
OBJECTIVE
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
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
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
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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e16428Informations de copyright
© 2024 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.
Références
Laforêt P, Nicolino M, Eymard B, et al. Juvenile and adult‐onset acid maltase deficiency in France: genotype–phenotype correlation. Neurology. 2000;55:1122‐1128.
Dupé C, Lefeuvre C, Solé G, et al. Macroglossia: a potentially severe complication of late‐onset Pompe disease. Eur J Neurol. 2022;29:2121‐2128.
Hudgson P, Gardner‐Medwin D, Worsfold M, et al. Adult myopathy from glycogen storage disease due to acid maltase deficiency. Brain. 1968;91:435‐462.
Margolis ML, Howlett P, Goldberg R, Eftychiadis A, Levine S. Obstructive sleep apnea syndrome in acid maltase deficiency. Chest. 1994;105:947‐949.
Dubrovsky A, Corderi J, Lin M, Kishnani PS, Jones HN. Expanding the phenotype of late‐onset pompe disease: tongue weakness: a new clinical observation: lingual weakness in Pompe. Muscle Nerve. 2011;44:897‐901.
Pinto WBVDR, Souza PVSD, Bortholin T, et al. Abnormal tongue features as a clinical clue for late‐onset Pompe's disease. Arq Neuropsiquiatr. 2017;75:835‐836.
Winkel LPF, Hagemans MLC, Doorn PA, et al. The natural course of non‐classic Pompe's disease; a review of 225 published cases. J Neurol. 2005;252:875‐884.
Hobson‐Webb LD, Jones HN, Kishnani PS. Oropharyngeal dysphagia may occur in late‐onset Pompe disease, implicating bulbar muscle involvement. Neuromuscul Disord. 2013;23:319‐323.
Jones HN, Crisp KD, Asrani P, Sloane R, Kishnani PS. Quantitative assessment of lingual strength in late‐onset Pompe disease: lingual strength in LOPD. Muscle Nerve. 2015;51:731‐735.
Carlier R‐Y, Laforet P, Wary C, et al. Whole‐body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns. Neuromuscul Disord. 2011;21:791‐799.
Laforêt P, Laloui K, Granger B, et al. The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease. Rev Neurol (Paris). 2013;169:595‐602.
Lefeuvre C, De Antonio M, Bouhour F, et al. Characteristics of patients with late‐onset Pompe disease in France: insights from the French Pompe registry in 2022. Neurology. 2023;101:e966‐e977. doi:10.1212/WNL.0000000000207547
Salassa J. A functional outcome swallowing scale for staging oropharyngeal dysphagia. Dig Dis. 1999;17:230‐234.
DePippo KL, Holas MA, Reding MJ. Validation of the 3‐oz water swallow test for aspiration following stroke. Arch Neurol. 1992;49:1259‐1261.
Van Der Beek NAME, Hagemans MLC, Van Der Ploeg AT, et al. The Rasch‐built Pompe‐specific activity (R‐PAct) scale. Neuromuscul Disord. 2013;23:256‐264.
McHorney CA, Bricker DE, Kramer AE, et al. The SWAL‐QOL outcomes tool for oropharyngeal dysphagia in adults: I. Conceptual foundation and item development. Dysphagia. 2000;15:115‐121.
Wallace KL, Middleton S, Cook IJ. Development and validation of a self‐report symptom inventory to assess the severity of oral‐pharyngeal dysphagia. Gastroenterology. 2000;118:678‐687.
Trollet C, Boulinguiez A, Roth F, et al. Oculopharyngeal muscular dystrophy. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews®. University of Washington; 1993.
Jones HN, Hobson‐Webb LD, Kuchibhatla M, et al. Tongue weakness and atrophy differentiates late‐onset Pompe disease from other forms of acquired/hereditary myopathy. Mol Genet Metab. 2021;133:261‐268.
Karam C, Dimitrova D, Yutan E, Chahin N. Bright tongue sign in patients with late‐onset Pompe disease. J Neurol. 2019;266:2518‐2523.