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


13:00	Catering lunch, venue

14:00	Welcome speech, programme announcement Organiser; Mr. Boris Šuštaršič (President of the Muscular Dystrophy Association of Slovenia)

14:15	Clinical reviews
14:15	Late Onset Pompe disease - overview Zoran Mitrović (CRO)
14:35	Diagnostic challenges in LOPD Agnes Herczegfalvi (HU)
14:55	Case report – two sisters Katalin Vardi (HU)
15:10	Pitfalls in adult Pompe disease diagnosis Georgios Konstantinos Papadimas (GR)
15:30	LGMD and GAA "pseudodeficiency": a case from Croatia Rujana Šprljan Alfirev (CRO)
15:45	Patient perspective Marko Studen (SLO)
16:05	Coffee break

16:25	Diagnostic reviews
16:25	LOPD in EMG laboratory: Where to start? What to expect? Ervina Bilić (CRO)
16:40	Case study: juvenile/adult patient Danijela Petković Ramadža (CRO)
16:55	Detecting GAA deficiency by DBS – how sensitive and how specific is it? Ksenija Fumić (CRO)
17:10	The impact of molecular diagnosis Karin Writzl (SLO)
17:25	Muscle biopsy in Pompe disease Marija Meznarič (SLO)
17:40	General discussion
17:55	Wrap up and closing, 1st day
20:00	Dinner \| 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


9:15	Patient assessment
9:15	Patient association screening project Lea Leonardis (SLO)
9:35	ALDA (Automated Limb-girdle muscle dystrophy Diagnosis Assistant) Svetlana Tomić (CRO)
9:55	Bulgarian experience with high risk testing project Teodora Chamova (BG)
10:15	Parents refusing the child's diagnose - ‎what's the next step? A case from Serbia Slavica Ostojić (SER)
10:30	Pompe disease - case presentation Anca Hancu (RO)
10:50	Coffee break

11:10	Disease control
11:10	Toward the therapy of LOPD Danijela Petković Ramadža (CRO)
11:30	A case of a patient refusing treatment Lea Leonardis (SLO)
11:45	Internist check up Ivan Pećin (CRO)
12:00	Therapy, weight control, diet and exercise – physician’s perspective Zsuzsanna Almassy (HU)
12:20	Therapy, weight control, diet and exercise – patient’s perspective Pompe patient (HU)
12:40	General discussion
12:55	Wrap up and closing
13:00	Lunch / departure