WebThe patient had a typical “myotonic facies” with a favorable airway. Obstructive sleep apnea syndrome was not suspected (but without recent polysomnography), no recent respiratory infections were present. He was premedicated with … WebFeb 2, 2024 · Congenital myotonic dystrophy (CMD) is an autosomal dominant neuromuscular disorder with multisystem involvement. It is a subtype of myotonic dystrophy type 1. Features include severe hypotonia …
A newborn with hypotonia and abnormal facies The BMJ
WebAug 21, 2024 · Neuroimaging in myotonic dystrophies provided a major contribution to the insight into brain involvement which is highly prevalent in these multisystemic disorders. Particular in Myotonic Dystrophy Type 1, conventional MRI first revealed hyperintense white matter lesions, predominantly localized in the anterior temporal lobe. Brain atrophy and … WebJun 8, 2011 · Myotonic dystrophy type 1 is one of the most common hereditary neuromuscular diseases. 1 2 The phenotypic expression of the disease and its clinical presentation are extremely heterogeneous, and symptoms may go unnoticed or not be taken seriously by carriers, as in the mother of this case. tmbg concert
Myotonic Dystrophy (DM) - Diseases - Muscular Dystrophy Association
WebJul 8, 1997 · Myotonic dystrophy (DM) is the most common form of muscular dystrophy affecting adults. It is dominantly inherited and involves many systems, including endocrine, heart, and brain, though principally it is a disease of muscle characterized by myotonia with muscle weakness and wasting ( 1 ). WebDystrophia myotonica facies (248201006) Recent clinical studies Etiology Brain gray matter structural network in myotonic dystrophy type 1. Sugiyama A, Sone D, Sato N, Kimura Y, Ota M, Maikusa N, Maekawa T, Enokizono M, Mori-Yoshimura M, Ohya Y, Kuwabara S, Matsuda HPLoS One2024;12(11):e0187343. Epub 2024 Nov 2 PMID: 29095898Free PMC Article WebJun 30, 2012 · Mitral facies (Mitral stenosis) Rosy, flushed cheeks and dilated capillaries; Myotonic or Hatchet facies (Myotonic dystrophy) Tented, open mouth, elongated face … tmbg cyclops rock