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Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease)

Myotonic dystrophy (MD) is a progressive multisystem genetic disorder that is characterized by progressive muscle weakness and wasting. MD1 (also known as Steinert disease) is associated with various clinical entities such as skeletal muscle weakness, myotonia, cardiac abnormalities, respiratory dys...

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Detalles Bibliográficos
Autores principales: Bayoumy, Ahmed B., Gjertsen, Jennifer Suzanne, Tushuizen, Maarten E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035962/
https://www.ncbi.nlm.nih.gov/pubmed/35528770
http://dx.doi.org/10.1159/000522476
Descripción
Sumario:Myotonic dystrophy (MD) is a progressive multisystem genetic disorder that is characterized by progressive muscle weakness and wasting. MD1 (also known as Steinert disease) is associated with various clinical entities such as skeletal muscle weakness, myotonia, cardiac abnormalities, respiratory dysfunction, gastrointestinal involvement, and cognitive impairment. In this case report, we present a 32-year-old woman with MD1 who presented with a sigmoid volvulus, which was treated with endoscopic decompression.