Torsten Kraya1, Bernd Schmidt2, Tobias Müller1, Frank Hanisch1,3. 1. Department of Neurology, Martin Luther University Halle-Wittenberg, Ernst Grube-Strasse 40, D-06120, Halle (Saale), Germany. 2. Pulmonology Unit, Department of Internal Medicine Martin Luther University Halle-Wittenberg, Halle (Saale), Germany. 3. Department of Neurology, Vivantes Humboldt-Klinikum, Berlin, Germany.
Abstract
INTRODUCTION: Recently, mutations in the MATR3 gene were found to cause late-onset distal myopathy. The frequency and impact of respiratory involvement are not clear. METHODS: Respiratory parameters [maximum vital capacity (VCmax); forced expiratory volume (FEV1 ); peak expiratory flow (PEF), postural drop of VCmax from sitting to supine, maximum inspiratory muscle pressure (PImax), mouth occlusion pressure after 100 ms (P 0.1), peak cough flow, and blood-gas analysis] were monitored prospectively at baseline, and then 6 months and 12 months later in 8 patients with genetically confirmed MATR3 myopathy. RESULTS: All patients showed involvement of respiratory function. Six of 8 reported exertional dyspnea. At the end of follow-up, 5 of 8 had decreased VC, 7 of 8 had reduced PImax, and 5 of 7 had decreased partial pressure of oxygen (PO2 ). Within 12 months, respiratory parameters deteriorated non-significantly. No patient required non-invasive ventilation. CONCLUSIONS: There is a high risk of abnormal respiratory function with progressive worsening in MATR3 myopathy.
INTRODUCTION: Recently, mutations in the MATR3 gene were found to cause late-onset distal myopathy. The frequency and impact of respiratory involvement are not clear. METHODS: Respiratory parameters [maximum vital capacity (VCmax); forced expiratory volume (FEV1 ); peak expiratory flow (PEF), postural drop of VCmax from sitting to supine, maximum inspiratory muscle pressure (PImax), mouth occlusion pressure after 100 ms (P 0.1), peak cough flow, and blood-gas analysis] were monitored prospectively at baseline, and then 6 months and 12 months later in 8 patients with genetically confirmed MATR3myopathy. RESULTS: All patients showed involvement of respiratory function. Six of 8 reported exertional dyspnea. At the end of follow-up, 5 of 8 had decreased VC, 7 of 8 had reduced PImax, and 5 of 7 had decreased partial pressure of oxygen (PO2 ). Within 12 months, respiratory parameters deteriorated non-significantly. No patient required non-invasive ventilation. CONCLUSIONS: There is a high risk of abnormal respiratory function with progressive worsening in MATR3myopathy.
Authors: Marco Savarese; Jaakko Sarparanta; Anna Vihola; Per Harald Jonson; Mridul Johari; Salla Rusanen; Peter Hackman; Bjarne Udd Journal: Acta Myol Date: 2020-12-01