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Neonatal Presentations of Neuromuscular Disorders
The term ‘neuromuscular diseases’ defines disorders of the extended motor unit. Newborns with disorders of peripheral nervous system (motor neurons, nerve roots, plexuses, peripheral nerves, neuromuscular junction, and skeletal muscles) present most frequently with hypotonia, weakness, contractures, respiratory and feeding difficulties. Since these findings may also occur with more common central causes, and/or newborns with peripheral nervous system involvement can also be prone to hypoxic-ischemic insults, approach and diagnosis can be challenging. Genetic counseling, individualized treatment strategies, standards of care require accurate diagnosis, and neuromuscular field is moving to screening programs and pre-symptomatic diagnosis with promising disease-modifying treatments.
The aim of this webinar is to discuss approach to neuromuscular diseases within the newborn period with selected case presentations in combination with clinical history, examination findings, and selected diagnostic tests, varying from traditional basic laboratory investigations to advanced molecular diagnostics.

Nov 10, 2021 04:00 PM in London

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Speakers

Goknur Haliloglu
Professor @Hacettepe University Children’s Hospital, Division of Paediatric Neurology, Ankara, Turkey
Göknur Haliloğlu, Professor of Pediatrics & Pediatric Neurology, Hacettepe University Children’s Hospital serving as an instructor, consultant and investigator, since 2013, undertook Neonatology & Pediatric Neurology clinical rotations at Le Bonheur Children’s Medical Center, USA in 1998-1999, and was a Clinical Research Fellow at Hammersmith Children’s Hospital, London, UK January-April 2005. Her research focuses on neurogenetic, neuromuscular & neurometabolic diseases. She actively works for the organization of educational programs for early recognition of neuromuscular disorders. She takes part in regional rare diseases projects, including implementation of a screening program for spinal muscular atrophy (SMA), national registries in neuromuscular and neurometabolic diseases. She recently contributed to Nelson 21st edition Textbook of Pediatrics ‘Neuromuscular Disorders’. Professor Haliloğlu is a member of several societies & has over 100 publications in her own right.
Coriene Catsman-Berrevoets
Associate Professor @Chair EPNS Education and Training Committee, Chair Committee of National Advisors to EPNS
Associate Professor, Erasmus University Hospital-Sophia Children’s Hospital Rotterdam and Juliana Children’s Hospital, The Hague. Fields of clinical and research interest: Neuro-oncology, stroke, immune mediated demyelinating disease / multiple sclerosis, neurocognitive outcome of children with acquired brain injury, cerebellar cognition