ArticleJournal of inherited metabolic disease2012
Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 2 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 89 citations in OpenAlex.
- Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.Journal of neurology · 2026Pooled it
- The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.BMC neurology · 2017Pooled it
- Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.Frontiers in immunology · 2024Trial
- A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease.Scientific reports · 2021Trial
- Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes.Human gene therapy · 2013Trial
- Results of orthodontic procedure in a patient with classic infantile Pompe disease.Italian journal of pediatrics · 2025Article
- Review
- Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle.Experimental physiology · 2024Review
- Gene therapy for glycogen storage diseases.Journal of inherited metabolic disease · 2024Review
- Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.Journal of neuromuscular diseases · 2024Article
- AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice.JCI insight · 2023Article
- Diaphragm pacing and independent breathing in individuals with severe Pompe disease.Frontiers in rehabilitation sciences · 2023Article
- Chemogenetic activation of hypoglossal motoneurons in a mouse model of Pompe disease.Journal of neurophysiology · 2022Article
- Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management.Therapeutics and clinical risk management · 2022Review
- Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech - A Review of the Literature from January 1998 to August 2021.Journal of neuromuscular diseases · 2022Review
- Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods.Journal of clinical medicine · 2021Article
- Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.Orphanet journal of rare diseases · 2021Article
- Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.Orphanet journal of rare diseases · 2020Article
- Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice.Scientific reports · 2020Article
- Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease.Molecular genetics and metabolism reports · 2020Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Classic infantile Pompe disease is an inherited generalized glycogen storage disorder caused by deficiency of lysosomal acid α-glucosidase. If left untreated, patients die before one year of age. Although enzyme-replacement therapy (ERT) has significantly prolonged lifespan, it has also revealed new aspects of the disease. For up to 11 years, we investigated the frequency and consequences of facial-muscle weakness, speech disorders and dysphagia in long-term survivors. Sequential photographs were used to determine the timing and severity of facial-muscle weakness. Using standardized articulation tests and fibreoptic endoscopic evaluation of swallowing, we investigated speech and swallowing function in a subset of patients. This study included 11 patients with classic infantile Pompe disease. Median age at the start of ERT was 2.4 months (range 0.1-8.3 months), and median age at the end of the study was 4.3 years (range 7.7 months -12.2 years). All patients developed facial-muscle weakness before the age of 15 months. Speech was studied in four patients. Articulation was disordered, with hypernasal resonance and reduced speech intelligibility in all four. Swallowing function was studied in six patients, the most important findings being ineffective swallowing with residues of food (5/6), penetration or aspiration (3/6), and reduced pharyngeal and/or laryngeal sensibility (2/6). We conclude that facial-muscle weakness, speech disorders and dysphagia are common in long-term survivors receiving ERT for classic infantile Pompe disease. To improve speech and reduce the risk for aspiration, early treatment by a speech therapist and regular swallowing assessments are recommended.
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