MEDICAL UNIVERSITY INNSBRUCK

The Centre for Neuromuscular Diseases (NMD) Innsbruck combines the expertise of the Clinic for Neurology (adult patients), Department of Neuropaediatrics of the Clinic for Paediatrics (minors) and the Institute for Human Genetics of the Medical University of Innsbruck. Our Centre for NMD has specific knowledge in neuropathies, myopathies, myasthenia gravis and motor neuron disease and spinal muscular atrophies (electrophysiology, multigene panel analysis, exome sequencing, clinical and genetic experience, tissue diagosis) and childhood onset neuromuscular disorders (clinical and genetic experience). Within our centre, we see about 100 newly diagnosed patients with NMD per year and offer 50-100 second opinions per year. Patients are mostly referred to us from Western Austria. Our in-house genetic laboratory processes about 300 procedures for diagnostics in the field of NMD. All genetic methods are implemented. The laboratories of the Center for NMD Innsbruck are embedded in the accredited laboratories of the ZMGI (Zentrum für Medizinische Genetik) of the Institute for Human Genetics (Head Prof. DDr. Johannes Zschocke). These laboratories analyse a wide variety of tissue types (blood, tumour tissue fresh frozen and FFPE, urine, oral mucosa, skin (fibroblast cultures), chorionic villi, amniocytes, etc.) and offer numerous molecular genetic diagnostic methods, including Sanger sequencing, Southern blot, NGS panel sequencing (Illumina: TSC, TS1ex with an extensive in-house database with regard to the TSC), exome-sequencing (in cooperation with the Institute for Human Genetics of the Helmholtz-Center Munich), transcript analysis, MLPA and many others. The core team can rely in its dedication to patient care on all facilities comprised in the Landeskrankenhaus der Universitätskliniken Innsbruck (University Clinics Innsbruck). The available facilities include the broadest range of equipment and facilities such as radiology, laboratories, hemodynamic facilities, day hospitals, hospitalization units, nurseries, and operation theatres. The Center for NMD coordinates closely with the structures in place of the Center for Rare Diseases Innsbruck, where applicable. It also participates actively to the concept of a superordinate cross-linked biobank for rare diseases.