Cholelithiasis and Associated Complications of Myotonia Dystrophica

Schwindt, Walter D.; Bernhardt, Louis C.; Peters, H.F.M.

doi:10.1080/00325481.1969.11697335

Cited by 14 publications

(6 citation statements)

References 5 publications

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“…It has been reported that 25–50% of DM1 patients in Caucasian ethnicity have abdominal involvement such as cholelithiasis or gallstones. [ 15 ] In our study, the ratio of gallbladder involvement is 18.9%, which is almost consistent with other studies. Despite the frequency of cholecystopathy in DM1, little is known about the underlying mechanism.…”

Section: Discussionsupporting

confidence: 93%

Clinical characteristics of 37 Chinese patients with myotonic dystrophy Type 1

Sadowsky

et al. 2016

Brain Circ

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OBJECTIVE:This study aims to investigate clinical characteristics of 37 Chinese patients with Myotonic dystrophy Type 1 (DM1).METHODS:Main clinical features of these cases were analyzed, with a focus on multi-system involvements.RESULTS:The median age of onset was 21.5 years, with a range from 3 to 45 years. Fourteen patients had a family history positive for DM1, whereas the other 23 were sporadic cases. Twenty-seven of the patients were male. The primary symptoms were myotonia and weakness with varying multi-system involvement including cardiac defects, cataracts, sleep disturbances, cholecystopathy, and peripheral neuropathy.CONCLUSIONS:This is the first report in China with the diagnosis of DM1 decisively confirmed by CTG expansion testing. Data from our study suggest that Chinese DM1 cases have different clinical characteristics compared with those of Caucasian cases, especially the prevalence of cardiac defects, cataracts, and sleep disturbances.

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Section: Discussionsupporting

confidence: 93%

Clinical characteristics of 37 Chinese patients with myotonic dystrophy Type 1

Sadowsky

et al. 2016

Brain Circ

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“…Our data corroborate previous findings of studies that assessed smaller samples of patients with DM1 only. [18][19][20][21] Moreover, our study shows that members of the registry had their gallbladder removed z10 years earlier on average than individuals in the general population based on available normative data. 22 Additional studies are needed to confirm our findings and to determine the risks of cholecystectomy at a comparatively younger age in patients with DM1 and DM2, including potential bile duct injury, hemorrhage, pulmonary insufficiency, atelectasis, and other DM-related anesthesia complications.…”

Section: Resultsmentioning

confidence: 85%

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2

et al. 2017

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GI manifestations were common in both DM1 and DM2, with a relatively high frequency of gallbladder removal in DM1 and DM2 occurring at a younger age compared to normative data in the literature. Studies are needed to determine the pathomechanism of how sex, weight gain, and duration of disease contribute to GI manifestations and how these manifestations affect quality of life and clinical care for patients with DM1 and DM2.

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“…It may not be surprising that cholelithiasis can be found in 50% of patients with CMyD who survived beyond infantile period, since cholelithiasis/cholestasis probably results from poor muscle function of the gallbladder 7 . However, the onset is usually in and beyond the adolescent period; the average age is 38.5 years 7 . Although cholelithiasis/cholestasis have not been reported in early infantile period, our experience suggested that gallbladder dysfunction of CMyD could start as early as the neonatal period.…”

Section: Discussionmentioning

confidence: 71%

“…DMPK is expressed in skeletal muscles, myocardium, the central nervous system, testis, and kidneys. It may not be surprising that cholelithiasis can be found in 50% of patients with CMyD who survived beyond infantile period, since cholelithiasis/cholestasis probably results from poor muscle function of the gallbladder 7 . However, the onset is usually in and beyond the adolescent period; the average age is 38.5 years 7 .…”

Section: Discussionmentioning

confidence: 99%