Update in Neuromuscular Disorders Tuesday 5- Friday 8 May Clinical Neuroscience Lecture Theatre at 33 Queen Square, London WC1N 3BG PROGRAMME

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Update in Neuromuscular Disorders Tuesday 5- Friday 8 May 2015 Clinical Neuroscience Lecture Theatre at 33 Queen Square, London WC1N 3BG Day 1 Tuesday 5 May PROGRAMME 10:00 10:30 Registration* and coffee *For the CPC discussion on Wednesday 6 May at 15.45, please collect the CPC information sheet at the Registration desk. The deadline for responses is at 13.00 on Wednesday 8 May. There is a prize for the winner. Theme: Advances in Duchenne muscular dystrophy 10:30 11:00 Updates from UK NorthStar clinical network: Outcomes of corticosteroid initiation in very young boys with Duchenne muscular dystrophy & effect of dystrophin genotype on disease course. Dr Valeria Ricotti, ICH Dubowitz Neuromuscular Centre 11:00-11:15 Clinical outcomes in a large cohort of boys and adolescents with Duchenne muscular dystrophy Dr Adnan Manzur, ICH Dubowitz Neuromuscular Centre 11:15 12:00 Experimental therapies in Duchenne muscular dystrophy Prof Francesco Muntoni, ICH Dubowitz Neuromuscular Centre 12:00 12:15 COFFEE Theme Early onset LGMDs 12.15 12.45 Limb girdle muscular dystrophies of early onset Dr Anna Sarkozy, ICH Dubowitz Neuromuscular Centre

12:45 13.15 Illustrative case presentations 13.15 14.00 LUNCH Theme Spinal muscular atrophy type I (SMA1) workshop 14:00 14:10 SMA1 outcomes with contemporary care Dr Adnan Manzur, ICH Dubowitz Neuromuscular Centre 14:10 14:20 NIV in SMA1. Dr François Abel, Great Ormond Street Hospital 14:20-14:30 Gastrostomy in SMA 1- The surgeon s perspective Mr Joe Curry, Great Ormond Street Hospital 14 30 14 40 SMA1. Palliative care approach Dr Finella Craig, Great Ormond Street Hospital 14 40 15 15 Panel discussion. Led by Dr Adnan Manzur, ICH Dubowitz Neuromuscular Centre 15:15 15:45 TEA 15:45 16:30 Translational research in spinal muscular atrophy Prof Francesco Muntoni, ICH Dubowitz Neuromuscular Centre 16:30 17.30 Special Guest Speaker, Investigating the relationship between skeletal muscle mass and metabolism, Professor Ketan Patel, University of Reading 17.30 18.30 Drinks reception, lecture theatre foyer

Day 2 Wednesday 6 May Theme Congenital muscular dystrophy. Is brain phenotype a diagnostic handle? 09:00 09:20 Congenital muscular dystrophy (CMD) update Dr Anna Sarkozy, ICH Dubowitz Neuromuscular Centre 09:20 09:45 Brain phenotypes in CMD Prof Francesco Muntoni, ICH Dubowitz Neuromuscular Centre 09:45 10:30 Illustrative cases. Session chaired by Dr Kling Chong, Great Ormond Street Hospital 10:30-11:00 COFFEE Theme: congenital myasthenic syndromes 11:00 11:30 Congenital myasthenic syndromes- genetic update Prof David Beeson, Weatherall Institute of Molecular Medicine, Oxford 11:30 12:00 Congenital myasthenic syndromes presentations and management Dr Stephanie Robb, Institute of Child Health 12:00 12:30 Neurophysiology in myasthenia. A guide for clinicians. Dr Matthew Pitt, Great Ormond Street Hospital 12: 30-13.00 Illustrative cases 13:00 14:00 LUNCH Theme: Management of frequent respiratory infections 14:00 14:10 Case presentation (recurrent respiratory infections in NMD) 14:10 14:30 Speech and language therapy evaluation. Juliet Taplin, Great Ormond Street Hospital 14:30 15:00 Respiratory management Dr Collin Wallis, Great Ormond Street Hospital

15:00-15:20 Gastro-oesophageal reflux: fundoplication benefits and limitations Mr Joe Curry, Great Ormond Street Hospital 15:20 15.45 TEA 15.45 16:15 CPC discussion Dr Imelda Hughes, Manchester Children s Hospital 16:15 16:45 CPC conclusion Professor Francesco Muntoni and Adnan Manzur

Day 3 - Thursday 7 May AM: 9.00 10.30 Common management problems in adult neuromuscular disorders 09:00 09:45 Prevention and treatment of osteoporosis in adults with neuromuscular disorders Dr Richard Keen, UCL Hospitals NHS Trust and the Royal National Orthopaedic Hospital 09:45 10:30 Primary muscle disease and anaesthesia Dr Nick Hirsch, National Hospital for Neurology and Neurosurgery 10:30 11:10 Management of pain (neuropathic, muscular and musculoskeletal) in adults with neuromuscular disorders Dr Paul Nandi, UCL Hospitals NHS Trust 11:10 11:30 COFFEE 11:30 12:15 Genetics and pathogenesis of Motor Neurone Disease 12:15 13:00 Treatment and management of Motor Neurone Disease Dr Katie Sidle, National Hospital for Neurology and Neurosurgery 13:00 14:00 LUNCH 14:00 14:45 Charcot Marie Tooth disease emerging therapies Prof Mary Reilly, MRC Centre for Neuromuscular Diseases 14:45-15:30 Current management strategies for Charcot Marie Tooth disease Dr Matilde Laurá 15:30 15:45 TEA 15:45 16:30 To be confirmed

Day 4 Friday 8 May 2014 09:00 09:30 Inclusion body myositis update Dr Pedro Machado, MRC Centre for Neuromuscular Diseases 09:30 10:15 Mitochondrial Neuromuscular Diseases Dr Rob Pitceathly 10:15 11:00 Muscle channelopathies Professor Mike Hanna, Director, Institute of Neurology COFFEE 11:30 12:15 Treatment of inflammatory neuropathies (CIDP, paraproteinaemic neuropathies) Dr James Miller, Newcastle University 12:15-13.00 Illustrative cases inflammatory neuropathy AIDP, CIDP, paraproteinaemic, vasculitis, infective) (Hadi Manji and Mary Reilly) 13:00-13.45 LUNCH 13.45 14:30 The challenge of mononeuropathies Dr Aisling Carr, MRC Centre for Neuromuscular Diseases 14:30 15.15 Surgical options for improving hand function in neuropathy Dr Anthony McMullan, Royal National Orthopaedic Hospital 15:15 15:30 TEA 15:30 16.00 Rhabdomyolysis and Metabolic Disease in Adults Dr Mark Roberts, Salford 16.00 16:30 16.30 17.00 Myotonic Dystrophy Dr Chris Turner, MRC Centre for Neuromuscular Diseases Drugs and Muscle Diseases Dr Matt Parton, MRC Centre for Neuromuscular Diseases `