Swallowing difficulties in Duchenne muscular dystrophy: Indications for feeding assessment and outcome of videofluroscopic swallow studies

Aloysius, A.; Born, Peter; Kinali, Maria; Davis, T; Pane, Marika; Mercuri, Eugenio

doi:10.1016/j.ejpn.2007.08.009

Cited by 73 publications

(94 citation statements)

References 12 publications

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“…[15][16][17] Dysphagia with solids more than liquids has also been reported in DMD. [18][19][20][21][22] We identified similarly increased occurrence of dysphagia with solids, but did not detect progression of dysphagia with skeletal muscle weakness as reported in studies of DMD. 20,22 While the underlying pathology of dysphagia in dystroglycanopathy is unknown, surface EMG studies of swallowing in a small series of patients with DMD suggest that the muscles involved in swallowing are weak, with dysphagic DMD patients exerting a greater proportion of maximal Figure 3 Gastrointestinal symptoms in dystroglycanopathy (DG) relative to household controls…”

supporting

confidence: 49%

Urologic and gastrointestinal symptoms in the dystroglycanopathies

et al. 2015

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Objective: To determine the frequency of urologic and gastrointestinal (GI) symptoms in a cohort of individuals with dystroglycanopathy compared with healthy household controls.Methods: Participants in a North American dystroglycanopathy natural history study (NCT00313677) and other members of their households completed a questionnaire modified from validated instruments and clinical criteria. Urologic and GI symptom frequency, effect on patient life, and medications taken for these symptoms were assessed. Those younger than 4 years or not toilet trained were excluded. Healthy human bladder, esophagus, and duodenum from surgical specimens were immunostained for glycosylated a-dystroglycan.Results: Thirty of 58 potential participants with dystroglycanopathy (51.7%) and 16 household controls participated. Subjects were aged 6 to 51 years (mean 26.7); 60.0% were female. Controls were aged 7 to 55 years (mean 34.6); 56.3% were female. The dystroglycanopathy cohort had higher frequency of urinary voiding symptoms (p 5 0.02), higher urologic symptom scores (p 5 0.05), and higher dysphagia symptom scores (p 5 0.04). A correlation existed between urologic symptom score and effect on life (r 5 0.71; 95% confidence interval 0.46, 0.85; p , 0.0001) and between dysphagia symptom score and effect on life (r 5 0.72; 95% confidence interval 0.48, 0.86; p , 0.0001). Glycosylated a-dystroglycan was present in visceral smooth muscle of all normal tissues analyzed.Conclusions: Urologic symptoms and dysphagia are reported more frequently by individuals with dystroglycanopathies than by household controls. These symptoms can cause a perceived negative effect on patient life. Our results suggest urologic and GI dysfunction may be part of the dystroglycanopathy phenotype, and that questions about these symptoms should be incorporated into routine care because they may influence medical management. The a-and b-dystroglycan proteins are encoded by the dystroglycan gene (DAG1) and constitute key components of the dystrophin-glycoprotein complex.1 After extensive glycosylation, a-dystroglycan serves as a link between the transmembrane b-dystroglycan protein and a number of ligands within the extracellular matrix.

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supporting

confidence: 49%

Urologic and gastrointestinal symptoms in the dystroglycanopathies

et al. 2015

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“…[135][136][137][138][139][140] The onset of dysphagia symptoms can be gradual and the impact of oral-pharyngeal dysphagia might be under-recognised and under-reported by patients. 140 This leads to risk of complications, such as aspiration and inability to take in enough fluids and food energy to maintain weight.…”

Section: Swallowing Managementmentioning

confidence: 99%

“…140 This leads to risk of complications, such as aspiration and inability to take in enough fluids and food energy to maintain weight. [135][136][137][138][139] Weight problems can also be due to an inability to meet the increased effort of breathing. [135][136][137][138][139] When it is no longer possible to maintain weight and hydration by oral means, gastric-tube placement should be offered.…”

Section: Swallowing Managementmentioning

confidence: 99%

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Bushby

Finkel

Birnkrant

et al. 2010

The Lancet Neurology

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1,596

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“…Nowadays, most DMD patients are able to survive to > 30 years-of-age because of improved medical support. 8 In the present study, we excluded DMD patients of around 30 years-of-age in a terminal stage who could not eat as potential participants. This procedure might induce a tenuous connection between TT and age in the DMD group .…”

Section: Discussionmentioning

confidence: 99%

Relationship between tongue thickness and tongue pressure in neuromuscular disorders

Umemoto

Furuya

Arahata

et al. 2016

Neurology & Clinical Neurosc

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Background: Few previous studies have objectively evaluated the relationship between tongue volume and tongue weakness in patients with neuromuscular disorders. Aim: The present study aimed to show the relationship between tongue thickness and tongue pressure in patients with neuromuscular disorders. Methods: A total of 21 Duchenne muscular dystrophy patients, 30 myotonic dystrophy type 1 patients and 33 amyotrophic lateral sclerosis patients were recruited for this study. Tongue thickness was measured using ultrasonography, and defined as the distance from the raphe of the mylohyoid muscle to the tongue dorsum. Maximum tongue pressure was also determined using an oral probe whose small balloon was compressed onto the palate with the tongue. Results: Tongue thickness was significantly higher in the Duchenne muscular dystrophy group than in the other groups. The maximum tongue pressure was lower in the myotonic dystrophy type 1 group than the DMD group. A significant correlation between tongue thickness and maximum tongue pressure was found in the amyotrophic lateral sclerosis group, but not in the other groups. Conclusion: Ultrasound is an effective tool to assess tongue thickness in patients with neuromuscular disorders. The present results suggested that tongue pressure, which was relevant to tongue thickness, especially in amyotrophic lateral sclerosis patients, was more useful to evaluate swallowing function than kinesiological analysis of tongue movement.

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Swallowing difficulties in Duchenne muscular dystrophy: Indications for feeding assessment and outcome of videofluroscopic swallow studies

Cited by 73 publications

References 12 publications

Urologic and gastrointestinal symptoms in the dystroglycanopathies

Urologic and gastrointestinal symptoms in the dystroglycanopathies

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Relationship between tongue thickness and tongue pressure in neuromuscular disorders

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