Non-motor symptoms and signs of Myotonic Dystrophy type 1

Introduction: Myotonic Dystrophy Type 1 (DM1) is a genetic disease that presents neuromuscular manifestations and multisystemic clinical repercussions, such as cardiac and respiratory disorders, sleep disorders and impaired swallowing, among others. It is the most common muscular dystrophy in adults. Objectives: To determine the epidemiological profile of patients with DM1 treated at the Neuromuscular Diseases Outpatient Clinic of the Complexo Hospital de Clínicas da Universidade Federal do Paraná (CHC-UFPR). Methods: A total of 27 individuals diagnosed with DM1, assisted at the Neuromuscular Diseases Outpatient Clinic of the CHC-UFPR, were evaluated between May 2021 and March 2022. For this purpose, their medical records with the clinical data were analyzed. Results: The sample consisted of 78% male subjects with mean age at onset of symptoms of 27.6 ± 10.8. The most frequent muscular manifestations were myotonia (100%), weakness of the distal muscles of the upper (96.3%) and lower (96.3%) limbs, myotonic facies (92.6%). The most common non-motor manifestations were excessive daytime sleepiness (74.1%), frontal baldness (66.7%), pharyngeal globus (62.9%), choking or coughing during and/or at the end of swallowing (62.9%), cataracts (59.2%), dysphagia (55.6%), chest pain (55.6%), cognitive impairment (44.4%), dyspnea (44.4%). Of the patients, 22.2% had a previous history of pneumonia. Conclusion: The DM1 patients in this study presented an epidemiological profile consistent with that described in the literature. Non-motor manifestations are common and should be investigated, since complications such as bronchopneumonia are important causes of mortality in these patients and may negatively impact the quality of life. Therefore, DM1 patients require multidisciplinary monitoring and evaluation.