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Transcranial Brain Parenchyma Sonographic Findings in Patients with Myotonic Dystrophy Type 1 and 2 by Mijajlovic, Milija (author);Bozovic, Ivo (author);Pavlovic, Aleksandra (author);Rakocevic-Stojanovic, Vidosava (author);Gluscevic, Sanja (author);Stojanovic, Amalija (author);Basta, Ivana (author);Meola, Giovanni (author);Peric, Stojan (author) is a Medicine article available to read on EtoBox.

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## Introduction Myotonic dystrophy type 1 (DM1) and 2 (DM2) are genetically determined progressive muscular disorders with multisystemic affection, including brain involvement. Transcranial sonography (TCS) is a reliable diagnostic tool for the investigation of deep brain structures. We sought to evaluate TCS findings in genetically confirmed DM1 and DM2 patients, and further correlate these results with patients’ clinical features. ## Methods This cross-sectional study included 163 patients (102 DM1, 61 DM2). Echogenicity of the brainstem raphe (BR) and substantia nigra (SN) as well as the diameter of the third ventricle (DTV) were assessed by TCS. Patients were evaluated using the Hamilton Depression Rating Scale, Fatigue Severity Scale and Daytime Sleepiness Scale. ## Results SN hyperechogenicity was observed in 40% of DM1 and 34% of DM2 patients. SN hypoechogenicity was detected in 17% of DM1 and 7% of DM2 patients. BR hypoechogenicity was found in 36% of DM1 and 47% of DM2 subjects. Enlarged DTV was noted in 19% of DM1 and 15% of DM2 patients. Older, weaker, depressive, and fatigued DM1 patients were more likely to have BR hypoechogenicity (p < 0.05). DTV correlated with age a

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Author

Mijajlovic, Milija (author);Bozovic, Ivo (author);Pavlovic, Aleksandra (author);Rakocevic-Stojanovic, Vidosava (author);Gluscevic, Sanja (author);Stojanovic, Amalija (author);Basta, Ivana (author);Meola, Giovanni (author);Peric, Stojan (author)

Publisher

Elsevier BV

Published

2024

Language

EN

Field

Medicine (Physical Sciences)