Characteristics of transcranial parenchymal sonography and correlation with psychiatric symptomatology in patients with myotonic dystrophy type 1 and 2

Abstract

Introduction Myotonic dystrophy type 1 and 2 (dystrophia myotonica, DM) is an autosomal dominant genetically determined progressive muscular dystrophy associated with multiple organs involvement. Neuroimaging techniques allow visualization and quantification of pathoanatomic changes, while the parenchymal transcranial sonography (TCS) allows accurate visualization of deep brain structures (basal ganglia, raphe nuclei, and the chamber system). The aim Determining the basal ganglia echogenicity change (substantia nigra-SN, n. raphe-BR, n. ruber-NR, n. lentiformis-NL) and third ventricle diameter (DTV), by using TCS in DM1 and DM2 patients and correlating the ultrasonography results with the psychiatric clinical manifestation. Materials and methods TCS and neuropsychological testings (Scales: HAMD, FSS, DSS) were conducted on 163 patients with DM1 and DM2, age 30-62 years. Results Borderline statistical significance (p = 0.05) is determined by comparing the right SN surface in DM1 patients (0.14 ± 0.06 cm2) and is lower than the right SN in DM2 patients, average size 0.16 ± 0.07 cm2. BR hypoechogenicity in DM1 patients was more common in older (32–53 years) and in patients with depression (p Conclusion TCS is a practical, easily applicable, highly sensitive neuroimaging method of great importance in diagnosing and treatment planning of patients with DM1 and DM2.