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Macroglossia: A potentially severe complication of late-onset Pompe disease
Charlotte Dupé1, Claire Lefeuvre1,2, Guilhem Solé3
1Neurology Department, APHP, Raymond Poincaré University Hospital, Garches, France.
Background:
Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α-glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late-onset Pompe disease (LOPD).
Methods:
We describe patients with LOPD and macroglossia included in the French national Pompe disease registry. Clinical, functional, and radiological data were collected during periodic follow-up and analyzed retrospectively. These cases were compared with 15 previously reported cases.
Results:
Five patients, three females and two males, aged 71-88 years, were included in this study. All but one of the patients suffered from symptoms related to macroglossia before the diagnosis of Pompe disease. Three had localized tongue atrophy and one had significant localized tongue hypertrophy which led to glossectomy 10 years before diagnosis. Two patients had severe dysphagia, one of whom underwent gastrostomy for enteral nutritional support. One patient experienced the persistence of numerous sleep apneas despite nocturnal bilevel positive airway pressure (BiPAP) ventilation. All our patients had dysarthria, and two required speech therapy. Four patients had a tongue hypersignal on magnetic resonance imaging (MRI) T1 sequences.
Conclusions:
Detection of macroglossia should be part of the clinical diagnosis and follow-up of patients with LOPD, with a careful evaluation of its main consequences. Macroglossia can have severe functional impacts on speech, swallowing, and sleep. Whole-body MRI with facial sections may facilitate the early diagnosis of Pompe disease with the "bright tongue sign".
Insights
Macroglossia, or enlarged tongue, is a key sign in late-onset Pompe disease (LOPD). Early detection through clinical signs and MRI can improve diagnosis and management of this rare neuromuscular disorder.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Pompe disease is a rare neuromuscular disorder caused by acid α-glucosidase deficiency.
- Macroglossia (enlarged tongue) is a known sign in some myopathies and has been observed in late-onset Pompe disease (LOPD).
Purpose of the Study:
- To describe patients with LOPD and macroglossia from the French national registry.
- To analyze clinical, functional, and radiological data of these patients.
- To compare findings with previously reported cases.
Main Methods:
- Retrospective analysis of clinical, functional, and radiological data from LOPD patients with macroglossia.
- Inclusion of five patients from the French national Pompe disease registry.
- Comparison with 15 previously reported cases.
Main Results:
- Five patients (71-88 years) with LOPD and macroglossia were studied.
- Most patients had macroglossia symptoms before LOPD diagnosis, including tongue atrophy/hypertrophy, dysphagia, sleep apnea, and dysarthria.
- MRI revealed tongue hypersignal in four patients.
Conclusions:
- Macroglossia detection is crucial for LOPD diagnosis and follow-up.
- Macroglossia significantly impacts speech, swallowing, and sleep in LOPD patients.
- Whole-body MRI with facial views may aid early LOPD diagnosis via the "bright tongue sign".
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