Diagnostics of Rare Movement Disorders
Budapest, Hungary – 31 January – 2 February, 2018
The ERN-RND Winter School is an opportunity for young neurologists/residents who are interes-
ted in rare neurological disorders to receive in-depth training from internationally-recognized rare neurological disease experts.
The first ERN-RND winter school will focus on diagnostics of rare movement disorders. It will cover both phenotypic description and Next Generation Sequencing based genetic diagnostic analysis of rare movement disorders patients.
Students will attend overview lectures in the morning which will include panel discussions with question-and-answer sessions. The afternoon sessions will be hands-on and give the opportunity to examine patients with rare movement disorders, receive Training in the usage of the Human Phenotype Ontology as well as do NGS analysis in selected cases.
Students will present their own case-study in dedicated sessions to enable small group discussions and critique.
The course will focus on ataxias, spastic paraplegias, dystonias and choreas.
A working knowledge of English is required as well as working knowledge of the diagnosis and general management of neurological disorders.
This course is intended for young neurologists/residents who are interested in rare neurological disorders. The audience will be come from ERN-RND HCPs.
- Phenotypically diagnose a patient with a rare movement disorder including using of HPO terms for phenotypic description
- Propose a differential diagnosis on rare movement disorders patients
- Understand usage of and apply NGS for diagnostics of rare movement disorders
- Using the ERN CPMS e-health platform for case discussions and consultation
- Judit Molnar, Budapest
- Jean-Marc Burgunder, Bern
- Bart van de Warrenburg, Nijmegen
- Kailash Bathia, London
- Maria Jose Marti, Barcelona
- Thomas Klockgether, Bonn
- Alex Hoischen, Nijmegen
- Erik-Jan Kamsteeg, Nijmegen
- Holm Graessner, Tübingen