A thirty-year-old man with traumatic quadriplegia, was also found to have weakness above the level of the injury. He had facial weakness, difficulty in swallowing, and recurrent respiratory problems. A diagnosis of myotonic dystrophy was supported by examination of his sister. The problems of diagnosis, and the implications of the diagnosis on the management of the patient with myotonic dystrophy and a spinal injury are discussed.
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http://dx.doi.org/10.1038/sc.1991.57 | DOI Listing |
Andes Pediatr
October 2024
Departamento de Neuropediatría, Hospital Fundación Alcorcón, Madrid, España.
Unlabelled: Congenital myotonic dystrophy type 1 (DM1) is a rare entity that can pose a diagnostic challenge, especially if other processes such as prematurity coexist.
Objective: to describe the typical presentation of congenital DM1 and thus increase diagnostic suspicion.
Clinical Case: A 29-week preterm female newborn who required non-invasive mechanical ventilation until 41 weeks postmenstrual age; she presented with apnea requiring manual ventilation with a self-inflating bag and cardiac massage.
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus.
Objective: To analyze the results of nocturnal breathing parameters during sleep based on nocturnal pulse oximetry and to study of characteristics of external respiration in genetically confirmed patients with dystrophic myotonia (DM).
Material And Methods: The subjects of the study were patients with genetically confirmed DM types 1 and 2 who were hospitalized in the neurological departments of the Republican Scientific and Practical Center for Neurology and Neurosurgery. The clinical picture of the disease, comorbidities, sleep questionnaires, laboratory tests, overnight pulse oximetry and spirometry were performed and analyzed.
Genetics
December 2024
Institute of Biotechnology, HiLIFE, University of Helsinki, Helsinki 00790, Finland.
Expansion of nucleotide repeat sequences is associated with more than 40 human neuromuscular disorders. The different pathogenic mechanisms associated with the expression of nucleotide repeats are not well understood. We use a Caenorhabditis elegans model that expresses expanded CUG repeats only in cells of the body wall muscle and recapitulate muscle dysfunction and impaired organismal motility to identify the basis by which expression of RNA repeats is toxic to muscle function.
View Article and Find Full Text PDFAs adaptors, catalysts, guides, messengers, scaffolds and structural components, RNAs perform an impressive array of cellular regulatory functions often by recruiting RNA-binding proteins (RBPs) to form ribonucleoprotein complexes (RNPs). While this RNA-RBP interaction network allows precise RNP assembly and the subsequent structural dynamics required for normal functions, RNA motif mutations may trigger the formation of aberrant RNP structures that lead to cell dysfunction and disease. Here, we provide our perspective on one type of RNA motif mutation, RNA gain-of-function mutations associated with the abnormal expansion of short tandem repeats (STRs) that underlie multiple developmental and degenerative diseases.
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