Update on Neuromuscular Disorders

SUMMARY
1. "Hazardous neuromuscular diseases"
Part 1: the malignant hyperthermia story and RYR1 mutations - implications to practice - Heinz Jungbluth
Part 2: More metabolic / hazardous neuromuscular diseases ie rhabdomyolysis - Ros Quinlivan
2. Latest in therapies for key neuromuscular disorders - Professor Carsten Bonneman
3. Standards of care for SMA and DMD - Dr Jo Wilmshurst
4. Neuromuscular and neurodevelopmental disorders assoiated with defective autophagy - Heinz Jungbluth

LEARNING OBJECTIVES

To provide the attendees with
1. recommendations to manage neuromuscular disorders with a high incidence of adverse events
2. up to date knowledge of the latest therapies and standards of care
3. to update the delegates on ground-breaking understandings in the field (e.g. defective autophagy as published in Nature Genetics)

INVITED SPEAKERS

1. "Hazardous neuromuscular diseases"

Part 1: the malignant hyperthermia story and RYR1 mutations - implications to practice
Heinz Jungbluth

Part 2: More metabolic / hazardous neuromuscular diseases ie rhabdomyolysis
Ros Quinlivan

Summary: 

Acute rhabdomyolysis is a potentially life threatening event resulting in acute metabolic disturbance and renal failure often necessitating renal dialysis. There are many causes of acute rhabdomyolysis both inherited and acquired. This talk will focus on the inherited causes likely to result in repeated episodes which can be prevented with appropriate dietary and exercise advice. McArdle disease is by far the most common metabolic myopathy affecting 1:100,000 people, although symptoms are present from early childhood, diagnosis is often delayed even to the seventh decade. Management includes regular aerobic exercise and avoidance of isometric muscle contraction. Fatty acid oxidation disorders including CPT2 and VLCAD are the next most commonly seen disorders presenting in teenagers and can be improved with appropriate dietary advice. Other causes of acute rhabdomyolysis will be discussed including rarer glycolytic disorders and muscular dystrophies.

 2. Latest in therapies for key neuromuscular disorders 

Professor Carsten Bonneman

3. Standards of care for SMA and DMD
Dr Jo Wilmshurst

4. Neuromuscular and neurodevelopmental disorders associated with defective autophagy
Heinz Jungbluth