Bright tongue sign in patients with late-onset Pompe disease

Karam, Chafic; Dimitrova, Dessislava; Yutan, Elizabeth; Chahin, Nizar

doi:10.1007/s00415-019-09455-1

Cited by 15 publications

(16 citation statements)

References 6 publications

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“…Carlier et al [94] reported a bright signal in the tongue on T1-weighted MRI images of LOPD patients. Others [95 , 96] confirmed this finding and Karam et al [96] found that it was also present in patients without dysphagia. They systematically reviewed brain MRIs of various disease groups and observed that the 'bright tongue sign' was present in three out of six LOPD patients, in two out of eight bulbar-onset ALS patients, in one out of four patients with myotonic dystrophy type 1 (DM1), and absent in patients with IBM and OPMD.…”

Section: Pompe's Diseasementioning

confidence: 59%

Dysphagia in adult myopathies

Argov

Visser

2021

Neuromuscular Disorders

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Dysphagia (impaired swallowing) is not a rare problem in various neuromuscular disorders, both in the pediatric and the adult patient population. On many occasions such patients are first presented to other medical specialists or health professionals. Disorders of deglutition are probably underrecognized in patients with a neuromuscular disease as a result of patient's and doctor's delay.This review will focus on dysphagia in adults suffering from a myopathy. Dysphagia in myopathies usually affects the oropharyngeal phases which rely mostly on voluntary muscle activity of the mouth, pharynx and upper esophageal sphincter. Dysphagia is known to contribute to a reduction of quality of life and may also lead to increased morbidity and mortality. The review includes an overview on symptomatology and tools of assessments, and elaborates on dysphagia in specific hereditary and acquired myopathies.

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Section: Pompe's Diseasementioning

confidence: 59%

Dysphagia in adult myopathies

Argov

Visser

2021

Neuromuscular Disorders

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“…Respiratory dysfunction involves upper airway as well as respiratory muscle and motor neuron pathology. Similar to Pompe mice, patients with Pompe disease demonstrate respiratory pathophysiology and insufficiency, as well as upper airway pathology [74][75][76][77][78][79]. Furthermore, IPD and LOPD patients have reduced vital capacity [76,80,81], which is reminiscent of the reduced tidal volume during the respiratory challenge demonstrated by WBP in mice [51,62,63,71].…”

Section: Discussionmentioning

confidence: 99%

“…Pompe patients have similar pathology in the genioglossus muscle and hypoglossal motor neurons as Pompe mice. The tongues of Pompe patients have glycogen accumulation, vacuolar myopathy, and atrophy [79,87,96]. Macroglossia, or enlargement of the tongue, is very common in patients with Pompe disease and can result in obstruction of the airway, especially during sleep [80,81,96].…”

Section: Discussionmentioning

confidence: 99%

The Respiratory Phenotype of Pompe Disease Mouse Models

Fusco

McCall

Dhindsa

et al. 2020

IJMS

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Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which causes respiratory insufficiency. Pompe disease mouse models provide a means of assessing respiratory pathology and are important for pre-clinical studies of novel therapies that aim to treat respiratory dysfunction and improve quality of life. This review aims to compile and summarize existing manuscripts that characterize the respiratory phenotype of Pompe mouse models. Manuscripts included in this review were selected utilizing specific search terms and exclusion criteria. Analysis of these findings demonstrate that Pompe disease mouse models have respiratory physiological defects as well as pathologies in the diaphragm, tongue, higher-order respiratory control centers, phrenic and hypoglossal motor nuclei, phrenic and hypoglossal nerves, neuromuscular junctions, and airway smooth muscle. Overall, the culmination of these pathologies contributes to severe respiratory dysfunction, underscoring the importance of characterizing the respiratory phenotype while developing effective therapies for patients.

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“…The fieldof-view included the complete body from cranial vertex to toes. Inclusion of the caput enabled us to evaluate tongue, neck and facial muscles, which can be selectively affected in certain muscle diseases [9,10]. Axial and coronal T1-weighted and coronal short tau inversion recovery (STIR) sequences of the whole body were evaluated.…”

Section: Methodsmentioning

confidence: 99%

Whole‐body muscle magnetic resonance imaging in patients with muscle symptoms: incidental findings and outcomes

Claeys

Goosens

2020

Euro J of Neurology

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Background and purpose: Whole-body muscle magnetic resonance imaging (MRI) has become widely used for diagnostic workup in patients with muscle diseases. The prevalence of incidental findings in diagnostic whole-body muscle MRI is unknown. Here, the prevalence and outcomes of incidentalomas in whole-body muscle MRI in a large cohort of patients with muscle symptoms were studied. Methods: Two hundred and six patients who consulted at our neuromuscular clinic with muscle weakness and/or myalgia and/or increased serum creatine kinase and in whom a whole-body muscle MRI was performed between January 2016 and March 2020 were included. Results: Whole-body muscle MRI revealed at least one incidentaloma in 132 patients (64.1%), with mean age at MRI examination 50.4 years (19-74 years). Most of the incidental findings were benign. However, diagnostic examinations were indicated in 16.3% of the incidentalomas, treatment was needed in 4.7% and, in retrospect, symptoms related to the incidental findings were identified in 14.3%. Three malignant (glioblastoma multiforme, renal cell carcinoma and hepato-splenomegaly related to a lymphoma) and one precancerous (low-grade appendiceal mucinous neoplasm) incidental findings were identified. In one patient an abdominal aortic aneurysm was detected and in another a large cerebral arteriovenous malformation. In 1.2% of the incidentalomas, i.e. periventricular white matter lesions (LAMA2 mutations) and fibrous dysplasia (ANO5 mutations), an indirect link with the muscle disease could be established. Conclusions: It is concluded that incidental findings in diagnostic whole-body muscle MRI in patients with muscle symptoms occur frequently. Most of them are benign, but in some timely detecting the incidentaloma leads to early treatment and can thus impact prognosis.

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Bright tongue sign in patients with late-onset Pompe disease

Cited by 15 publications

References 6 publications

Dysphagia in adult myopathies

Dysphagia in adult myopathies

The Respiratory Phenotype of Pompe Disease Mouse Models

Whole‐body muscle magnetic resonance imaging in patients with muscle symptoms: incidental findings and outcomes

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