University of Tampere
Tampere Neuromuscular Center (TNMC) is a highly specialised centre for comprehensive clinical care and research of all types of genetic and acquired conditions of muscle, nerve and neuromuscular junction.
TNMC has a unique world leader position in several subgroups of neuromuscular diseases such as: distal myopathies, myofibrillar myopathies, titinopathies, rimmed vacuolar myopathies including XMEA, myotonic dystrophy type 2 and certain ionchannel diseases, as well as adult motor neuron diseases including SBMA, SMAJ and large diagnostic experience with genetic ALS.
- TNMC can provide extensive molecular genetic and pathology diagnostics for all known neuromuscular diseases and has a comprehensive research program to identify and describe new currently unknown diseases and their genetic cause. This program has resulted in 1 new disease/year on average, described and reported during the last 10 years. This means that the diagnostic capacity for ultra-rare disorders and the possibilities to clarify also currently unknown diseases is in place using a multitude of specific techniques (NGS, cDNA, protein specific assays) including the capacity to model the effects of unknown gene mutations in cells and zebrafish.
- Since its establishment, TNMC has provided more than 1500 Finnish and 500 foreign patients with a final genetic diagnosis in disorders that had not been possible to diagnose previously.
- TNMC is the only center in Finland that provides comprehensive molecular genetic and protein specific muscle diagnostic clinical services and studies for rare neuromuscular diseases. The services are provided for all other hospitals in Finland including Helsinki university hospital and foreign university hospitals.
- the capacities and expertise to analyze titin gene on genetic and protein level as a clinical service is unique
- TNMC expertise in muscle MRI is currently used world wide for teaching courses
- TNMC provides in-house training in NMD diagnostic techniques for visiting neurologists from abroad. We participate in the creation of management guidelines and play an important role in teaching and the dissemination of information to a range of stakeholders around the world
- TNMC is currently organizing an international database for Titin gene variants and mutations on the RD-Connect platform for the international community to avoid false diagnoses in patients