Steakhouse Syndrome in Myotonic Dystrophy

Ogasawara, Nobuhiko; Sato, Kenichiro; Tsutsumiuchi, Michiko; Kanzaki, Mami; Uesaka, Yoshikazu

doi:10.2169/internalmedicine.9185-17

Cited by 3 publications

(2 citation statements)

References 7 publications

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“…This suggests that individuals adapt to and compensate for the muscular changes that occur with swallowing over time. Despite this, affected individuals are still at greater risk for aspiration pneumonitis and may be unaware of their propensity for esophageal dysfunction, which may lead to other serious secondary symptoms such as lower esophageal blockage [ 62 , 63 ].…”

Section: Clinical Findingsmentioning

confidence: 99%

Clinical and Molecular Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2

Peterson

Cooper

2022

IJMS

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Myotonic dystrophy (DM) is a highly variable, multisystemic disorder that clinically affects one in 8000 individuals. While research has predominantly focused on the symptoms and pathological mechanisms affecting striated muscle and brain, DM patient surveys have identified a high prevalence for gastrointestinal (GI) symptoms amongst affected individuals. Clinical studies have identified chronic and progressive dysfunction of the esophagus, stomach, liver and gallbladder, small and large intestine, and rectum and anal sphincters. Despite the high incidence of GI dysmotility in DM, little is known regarding the pathological mechanisms leading to GI dysfunction. In this review, we summarize results from clinical and molecular analyses of GI dysfunction in both genetic forms of DM, DM type 1 (DM1) and DM type 2 (DM2). Based on current knowledge of DM primary pathological mechanisms in other affected tissues and GI tissue studies, we suggest that misregulation of alternative splicing in smooth muscle resulting from the dysregulation of RNA binding proteins muscleblind-like and CUGBP-elav-like is likely to contribute to GI dysfunction in DM. We propose that a combinatorial approach using clinical and molecular analysis of DM GI tissues and model organisms that recapitulate DM GI manifestations will provide important insight into defects impacting DM GI motility.

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Section: Clinical Findingsmentioning

confidence: 99%

Clinical and Molecular Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2

Peterson

Cooper

2022

IJMS

View full text Add to dashboard Cite

show abstract

“…It is more common in older patients 1 . This syndrome can be caused by various etiologies: esophageal mechanical narrowing due to esophageal carcinoma, diverticulum, hiatal hernia, or eosinophilic esophagitis; or esophageal motility disturbances including esophageal achalasia, diffuse esophageal spasm, and esophagogastric junction outflow obstruction 1,2,3 . This disease can be confused with acute coronary syndrome because the patient may complain of pain behind the sternum 1,4 .…”

Section: Figurementioning

confidence: 99%