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. 2024 Oct;31(10):e16428.
doi: 10.1111/ene.16428. Epub 2024 Aug 7.

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

Emilie Retailleau  1 , Claire Lefeuvre  1   2 , Marie De Antonio  3 , Françoise Bouhour  4 , Celine Tard  2   5 , Emmanuelle Salort-Campana  6   7 , Emmeline Lagrange  8 , Anthony Béhin  2   9 , Guilhem Solé  10 , Jean-Baptiste Noury  11 , Sabrina Sacconi  12 , Armelle Magot  13 , Aleksandra Nadaj Pakleza  2   14   15 , David Orlikowski  2   16 , Stéphane Beltran  17 , Marco Spinazzi  18 , Pascal Cintas  19 , Maxime Fournier  20 , Fatma Bouibede  21 , Hélène Prigent  22 , Guillaume Nicolas  1   2   22 , Nadjib Taouagh  1   2 , Taissir El Guizani  1   2 , Shahram Attarian  6   7 , Azzeddine Arrassi  2   9 , Dalil Hamroun  23 , Pascal Laforêt  1   2   22
Affiliations

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

Emilie Retailleau et al. Eur J Neurol. 2024 Oct.

Abstract

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.

Keywords: French Pompe registry; dysphagia; glycogenosis type II; late onset Pompe disease; macroglossia.

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Conflict of interest statement

C.L., M.S., P.C., A.B., A.M., and M.F. have received fees for participation on scientific boards and scientific congress sponsoring by Sanofi‐Genzyme. Fr.B., C.T., E.S.‐C., J.‐B.N., A.N.P., and S.A. have received fees for participation on scientific boards and scientific congress sponsoring by Sanofi‐Genzyme and Amicus Therapeutics. P.L. has received fees for participation on scientific boards by Amicus Therapeutics, Sanofi, Genzyme, and Spark Therapeutics, consulting fees from Sanofi Genzyme, BioMarin, Sanofi Genzyme, and Spark Therapeutics, and scientific congress sponsoring by Sanofi Genzyme, Amicus Therapeutics, and Spark Therapeutics. The other authors report no relevant disclosures.

Figures

FIGURE 1
FIGURE 1
Illustration of association of macroglossia and lingual atrophy in Late Onset Pompe disease patients. (a, b) The tongue of a 69‐year‐old man (P1) who presented with macroglossia and complains of dysphagia with aspirations. His Salassa score was 3. He performed the Drink Test in 7.3 s. (c, d) The tongue of a 75‐year‐old man who presented with macroglossia and complains of dysarthria. His Salassa score was 1. He performed the Drink Test in 5.9 s.
FIGURE 2
FIGURE 2
Venn diagram representing the presence of macroglossia, daily dysphagia, and dysarthria in our cohort of late onset Pompe disease.
FIGURE 3
FIGURE 3
Bulbar features comparing patients without swallowing difficulties (defined by a Salassa score of 0) and patients with swallowing difficulties (defined by a Salassa score of ≥1). *p < 0.05, ***p < 0.001. NS, p ≥ 0.05.
FIGURE 4
FIGURE 4
Sydney Swallow Questionnaire results comparing patients without swallowing difficulties (defined by a Salassa score of 0) and patients with swallowing difficulties (defined by a Salassa score of ≥1). **p < 0.01, ***p < 0.001.
FIGURE 5
FIGURE 5
Swallowing Quality of Life Questionnaire results comparing patients without swallowing difficulties (defined by a Salassa score of 0) and patients with swallowing difficulties (defined by a Salassa score of ≥1). *p < 0.05, **p < 0.01, ***p < 0.001. NS, p ≥ 0.05.
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