Background: Coeliac disease (CD) is an autoimmune enteropathy that may feature extraintestinal manifestations including cerebellar ataxia and myoclonus.
Methods And Results: A descriptive series of five patients with CD who presented with prominent stimulus-sensitive foot myoclonus.
Conclusions: Stimulus-sensitive foot myoclonus is a distinct clinical sign and may be a useful clue to the diagnosis of CD.
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http://dx.doi.org/10.1002/mdc3.12753 | DOI Listing |
Toxicon
October 2024
Young Adult Institute and Premier HealthCare, 220 East 42nd St, 8th Floor, New York, NY, 10017, USA. Electronic address:
Cureus
July 2024
Graduate Medical Education, Kansas City University of Medicine and Biosciences, Kansas City, USA.
Creutzfeldt-Jakob Disease (CJD) is a prion disease that leads to rapid mental deterioration and is always fatal. Prions are glycoproteins found in the brain. While their function is not completely understood, irregular folding of these proteins leads to prion disorders and neurodegenerative disease.
View Article and Find Full Text PDFJ Pediatr Genet
March 2024
Department of Pediatrics, Division of Pediatric Endocrinology, Medical School of Adiyaman University, Adiyaman, Türkiye.
Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by whole gene deletions of is a very rare condition. We report a Turkish girl with ectrodactyly, joint laxity, multiple bone fractures, blue sclera, early teeth decay, mild learning disability, and depression.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!