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Related Concept Videos

Imaging Studies III: Gastrointestinal Motility Studies and Virtual Colonoscopy01:26

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This lesson explores three gastrointestinal imaging techniques: radionuclide testing, colonic transit studies, and virtual colonoscopy.
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Radionuclide testing is a sophisticated medical technique for assessing gastrointestinal motility. It focuses on gastric emptying and colonic transit time. Radioactive markers track the movement of food through the digestive system, providing insights into gastrointestinal disorders.
In gastric emptying studies, a meal's liquid and...
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Upper GI Series: Barium Swallow01:24

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The Barium Swallow Study, or a Barium Esophagogram, is a diagnostic imaging method used to visualize the upper gastrointestinal (GI) tract, including the esophagus, stomach, and small intestine. It employs barium sulfate, a radiopaque contrast material, to provide clear images of the upper digestive system, helping to identify abnormalities, diseases, or structural issues.
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Patients undergoing this procedure ingest a liquid containing barium sulfate with a chalky...
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Esophageal Strictures-II: Clinical Features and Management01:26

Esophageal Strictures-II: Clinical Features and Management

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Patients with esophageal strictures often experience a range of symptoms. Initially, they may have difficulty swallowing solid foods, which can progress to include liquids. Additional symptoms may involve chest pain or discomfort, regurgitating food and fluids, heartburn, unintentional weight loss, coughing or choking during meals, and hoarseness.
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Myasthenia Gravis: Diagnostic Tests01:15

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Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
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Deglutition01:25

Deglutition

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Swallowing, otherwise known as deglutition, facilitates the transport of food from the mouth to the stomach. It is a multifaceted process that involves both the tongue and the muscles of the throat and esophagus. Saliva and mucus aid in this process, which takes approximately 4 to 8 seconds for semi-solid or solid food and around 1 second for liquids or very soft food.
Swallowing can be divided into three stages: the voluntary phase, the pharyngeal phase, and the esophageal phase. Although the...
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Endoscopic Studies I: Bronchoscopy and Thoracoscopy01:30

Endoscopic Studies I: Bronchoscopy and Thoracoscopy

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Endoscopy is a non-surgical medical technique used to examine a person's internal organs and vessels. This lesson will focus on two types of endoscopic studies: bronchoscopy and thoracoscopy.
Bronchoscopy
Description
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Related Experiment Video

Updated: Aug 4, 2025

Adapting Human Videofluoroscopic Swallow Study Methods to Detect and Characterize Dysphagia in Murine Disease Models
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Swallowing Problems in Spinal Muscular Atrophy Types 2 and 3: A Clinical, Videofluoroscopic and Ultrasound Study.

A M B van der Heul1, R A J Nievelstein2, R P A van Eijk1,3

  • 1Department of Neurology & Neurosurgery, UMC Utrecht, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.

Journal of Neuromuscular Diseases
|April 3, 2023
PubMed
Summary

Patients with spinal muscular atrophy (SMA) types 2 and 3 experience significant swallowing and mastication issues. Muscle abnormalities in the tongue and submental regions contribute to these dysphagia problems.

Keywords:
SMNSpinal muscular atrophySurvival motor neuron genedysphagiamuscle ultrasoundoral motor functionvideofluoroscopy

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Area of Science:

  • Neurology
  • Gastroenterology
  • Biomedical Engineering

Background:

  • Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder causing progressive muscle weakness and degeneration of motor neurons.
  • Disease severity in SMA varies, classified into types 1-4, impacting different patient populations.
  • Swallowing and mastication difficulties are common but understudied complications in SMA types 2 and 3.

Purpose of the Study:

  • To investigate the nature and mechanisms of swallowing problems in patients with SMA types 2 and 3.
  • To explore the relationship between swallowing dysfunction and mastication deficits in this patient cohort.
  • To identify potential contributing factors to dysphagia in SMA.

Main Methods:

  • Cross-sectional study including patients aged 13-67 with self-reported swallowing/mastication issues.
  • Utilized questionnaires, functional oral intake scale, clinical swallowing and mastication tests.
  • Employed videofluoroscopic swallowing study (VFSS) and muscle ultrasound of bulbar muscles (digastric, geniohyoid, tongue).

Main Results:

  • Non-ambulant SMA patients showed reduced swallowing capacity and pharyngeal residue on VFSS.
  • Pharyngo-oral regurgitation and impaired swallowing safety (penetration-aspiration) were observed in a significant portion of patients.
  • Muscle ultrasound revealed abnormalities in submental and tongue muscles, correlating with swallowing and mastication problems (p=0.001).

Conclusions:

  • Swallowing dysfunction in SMA types 2 and 3 involves impaired bolus transport and safety, linked to bulbar muscle abnormalities.
  • Mastication problems are significantly associated with swallowing difficulties in these patients.
  • These findings highlight the need for comprehensive assessment and management of oropharyngeal dysfunction in SMA.