30 Nov 2017
Home > Publications > Posters >
A A A
Introduction of ERN NMD Centre in Prague, Czech Republic
Authors:
Jana Haberlova (jana.haberlova@gmail.com), J.Haberlová1, R.Mazanec2, P.Laššuthová3, P.Fuchsová1, D.Baumagrtner2, M.Šedivá1
1/ Child Neurology Department, Faculty Hospital Motol, and 2nd Medical Faculty, Charles University, Prague, Czech Rep.
2/ Neurology Department, Faculty Hospital Motol, and 2nd Medical Faculty, Charles University, Prague, Czech Rep.
3/ DNA lab, Child Neurology Department, 2nd Medical Faculty, Charles University, Prague, Czech Rep.
Our Centre is based in the Faculty Hospital in Prague, Czech Republic. We work as a diagnostic and care reference centre for all neuromuscular disorders in children and adults, except metabolic and mitochondrial disorders.
We cover an area with about 5 million inhabitants, and serve as a consultation centre for nearby eastern countries, mostly for the Slovak Republic, as there is no centre. As we are based in one of the biggest hospitals in the middle of Europe, our team is really multidisciplinary and has long tradition in paeditric and adult care. The special part of our diagnostic options is neurophysiologic tests of autonomic nervous system dysfunctions, especially in diabetic patients. Except clinical work we take part in clinical research and both pre and postgradual education. We participate in clinical trials, mostly in DMD and SMA topics. Our research DNA lab has a long tradition in CMT diagnostic.
We offer clinical, pathological and genetic consultations. In our genetic lab we offer diagnostic CMT panel for 100 genes and in cooperation with external DNA lab we are able to offer panel for 350 NMD genes. Moreover, our lab performs whole exome, as well as whole genome sequencing on research basis. . Besides inherited NMD we provide a diagnostic service for all autoimmune neuromuscular diseases, especially inflammatory neuropathies, myopathies and myasthenia gravis.
As a member of ERN network, we would like to share our information about well phenotyped patients or unclear patients with rare NMD in all spectrums of NMD diseases except metabolic disorders. Our DNA lab is willing to share information about DNA results, to help analyze data from whole exome and whole genome sequencing. .
All visitors are welcome.