Programme proposal

Wednesday, 29th of MAY, 2019

08:00 – Registration
10:00 – 10:30 Welcome

Maria Judit Molnar, Local Chair and Co-Chair of the EAN’s Scientific Panel of Muscle Disorders

Welcome of the Semmelweis University:
Ferenc Banhidy
, Vice-rector of the Semmelweis University

Welcome from the EAN’s Scientific Panel of Muscle Disorders:
Antonio Toscano, Co-Chair of the Panel

Welcome from the EAN’s Scientific Panel of Neuropathy:
Peter Van den BerghCo-Chair of the Panel

10:30 – 13:00 Symptomatology

10:30  Introduction to clinical myology – Benedikt Schoser

11:00  How to approach distal muscle weakness? – Marianne de Visser

11:30  Fatigue – Viktorija Kenina

12:00  Hypotonia – Anna Kostera Pruszcyk

12:30  Myalgia – Judit Boczan

13:00 – 14:00 Lunch Break
14:00 – 16:30 The role of diagnostic biomarkers in the differential diagnosis of neuromuscular disorders

14:00  HyperCKemia – Antonio Toscano

14:30  EMG/ENG: How to solve the problem when interpretation is difficult – Peter Dioszeghy

15:00  The role of neuropathology in the diagnostic of neuromuscular disorders – Endre Pal

15:30  The role of genetics in the diagnostic of neuromuscular disorders  – Maria Judit Molnar

16:00  The role of ultrasound in the diagnostic of neuromuscular disorders – Zsuzsanna Aranyi

16:30 – 17:00 Coffee Break
17.00 – 18:00 Classification, pathomechanism and treatment options in neuromuscular disorders

Disease Groups – I.

17:00  SMA pathomechanism and treatment options – Anna Kostera Pruszcyk

17:30  Classification and differential diagnostic of inherited neuropathies – Angelo Schenone

19:30 Dinner on a boat

Thursday, 30th of MAY, 2019

08:00- Registration
09:00 – 10:30 Classification, pathomechanism and treatment options in neuromuscular disorders

Disease Groups – II.

09:00  Diagnosis and treatment of acquired neuropathies – Peter Van Den Bergh

09:30  Inflammatory myopathies: pathogenesis and treatment options – Marianne de Visser

10:00  Myasthenia gravis – Viktorija Kenina

10:30 – 11:00 Coffee Break
11:00 – 12.10 Case presentations

11:00 Dancing among vacuoles – update on autophagic vacuolar myopathies
Josef Zámečník (University Hospital Motol, Czech Republic) Sponsored by Sanofi Genzyme

11:25 One year of nusinersen treatment in spinal muscular atrophy (SMA) in Hungary
Lena Szabo (Semmelweis University, Hungary) Sponsored by Biogen Hungary Ltd

11:40 Recognizing hereditary ATTR – it is not all the same…
Roberta Mussinelli (Amyloidosis Research and Treatment Centre, Pavia, Italy) Sponsored by Akcea Therapeutics Germany GmbH

11:55 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability identified by WES after a long diagnostic journey
Péter Balicza (Semmelweis University, Hungary)

12:10 Challenges in FSHD diagnostics: introduction to Molecular Combing technology to aid the diagnosis of an FSHD patient
Szabolcs Udvari (Semmelweis University, Hungary)

12:25 A peculiar isolated vocal muscle paresis: laryngeal myasthenia or autoimmune cranial neuropathy?
Judit Boczan (University of Debrecen, Hungary)

12:40 – 13:30 Lunch Break
13.30 – 15:30 13:30  The personalized management of Duchenne and Becker muscular dystrophies – Maria Judit Molnar

14:00  Update on limb-girdle muscular dystrophies – Antonio Toscano     

14:30  Myotonic dystrophies and non-dystrophic myotonic syndrome – Benedikt Schoser    

15:00  The role of C9orf72 in the background of motoneuron disorders – Zoltan Grosz

15:30 – Closing remarks


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