Educational Course on Late-onset Pompe Disease

About the Course

A two-day educational course on late-onset Pompe disease (LOPD) will be organised on Friday and Saturday, 15th-16th May 2015. The course is intended for medical doctors who encounter patients with Pompe disease or who would like to broaden their knowledge on LOPD.

Pompe disease is a rare, progressive and often fatal neuromuscular disorder characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness, loss of respiratory function and often premature death.
Recognizing Pompe disease in children and adults can be challenging due to the heterogeneity of presentation, as well as the overlap of symptoms with other neuromuscular disorders.
Within the frame of this Education, we will talk about symptoms, diagnosis, experiences and challenges in everyday practice.

The course is organised by SiNAPSA, Slovenian Neuroscience Association, and Slovenian Society of Clinical Neurophysiology.

Final programme:

Friday, 15 May | E3 Hall, Cankarjev dom

13:00Catering lunch, venue
14:00Welcome speech, programme announcement
Organiser; Mr. Boris Šuštaršič (President of the Muscular Dystrophy Association of Slovenia)
14:15Clinical reviews
14:15Late Onset Pompe disease - overview
Zoran Mitrović (CRO)
14:35Diagnostic challenges in LOPD
Agnes Herczegfalvi (HU)
14:55Case report – two sisters
Katalin Vardi (HU)
15:10Pitfalls in adult Pompe disease diagnosis
Georgios Konstantinos Papadimas (GR)
15:30LGMD and GAA "pseudodeficiency": a case from Croatia
Rujana Šprljan Alfirev (CRO)
15:45Patient perspective
Marko Studen (SLO)
16:05Coffee break
16:25Diagnostic reviews
16:25LOPD in EMG laboratory: Where to start? What to expect?
Ervina Bilić (CRO)
16:40Case study: juvenile/adult patient
Danijela Petković Ramadža (CRO)
16:55Detecting GAA deficiency by DBS – how sensitive and how specific is it?
Ksenija Fumić (CRO)
17:10The impact of molecular diagnosis
Karin Writzl (SLO)
17:25Muscle biopsy in Pompe disease
Marija Meznarič (SLO)
17:40General discussion
17:55Wrap up and closing, 1st day
20:00Dinner | Gostilna na gradu
(meeting point 19:30 Hotel Slon for walking, 19:40 Erjavčeva Street for bus transfer)

Saturday, 16 May | E3 Hall, Cankarjev dom

9:15Patient assessment
9:15Patient association screening project
Lea Leonardis (SLO)
9:35ALDA (Automated Limb-girdle muscle dystrophy Diagnosis Assistant)
Svetlana Tomić (CRO)
9:55Bulgarian experience with high risk testing project
Teodora Chamova (BG)
10:15Parents refusing the child's diagnose - ‎what's the next step? A case from Serbia
Slavica Ostojić (SER)
10:30Pompe disease - case presentation
Anca Hancu (RO)
10:50Coffee break
11:10Disease control
11:10Toward the therapy of LOPD
Danijela Petković Ramadža (CRO)
11:30A case of a patient refusing treatment
Lea Leonardis (SLO)
11:45Internist check up
Ivan Pećin (CRO)
12:00Therapy, weight control, diet and exercise – physician’s perspective
Zsuzsanna Almassy (HU)
12:20Therapy, weight control, diet and exercise – patient’s perspective
Pompe patient (HU)
12:40General discussion
12:55Wrap up and closing
13:00Lunch / departure

Page last updated: Thursday, May 14th 2015

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