Knowledge Hub

The lecture provides a perspective on the changes in treatment and management of neuromuscular disorders in the 21st century including the development of ‘Standards of Care’ for a number of neuromuscular disorders (can be accessed at Treat-NMD), the development of good quality evidence base from high quality scientific trials and the development of the concepts of ICF focusing on the functioning and participation goals of individual patients. The lecture discusses in detail the Standard of care for Duchenne Muscular Dystrophy, outlines the current research trials involving medications. and gene therapy including some outcomes data for DMD and Spinal Muscular Atrophy (SMA). It concludes by highlighting the progress made and the challenges ahead. A good update on current clinical practice and future research direction for clinicians involved in care of children with neuromuscular disorders.

A New Era in the Management of Neuromuscular Disorders in Children and Adolescents

Knowledge Hub

The lecture provides a perspective on the changes in treatment and management of neuromuscular disorders in the 21st century including the development of ‘Standards of Care’ for a number of neuromuscular disorders (can be accessed at Treat-NMD), the development of good quality evidence base from high quality scientific trials and the development of the concepts of ICF focusing on the functioning and participation goals of individual patients. The lecture discusses in detail the Standard of care for Duchenne Muscular Dystrophy, outlines the current research trials involving medications. and gene therapy including some outcomes data for DMD and Spinal Muscular Atrophy (SMA). It concludes by highlighting the progress made and the challenges ahead. A good update on current clinical practice and future research direction for clinicians involved in care of children with neuromuscular disorders.

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Synopsis of resource

This talk provides a very useful overview of the developments that have happened in the field of inherited neuromuscular diseases, with both commentary about the development of guidelines for management by age and stage of these conditions, and useful data to illustrate both the successes and the limitations of some of the new interventions. The presentation offers a balanced view of the story, and reminds listeners that even the most promising medical interventions are only part of a much more comprehensive approach to the care of these young people and their families.

Key learning outcomes

  • There are important advances in the understanding of the genetic basis of many inherited neuromuscular diseases 
  • This leads to an increasing understanding of the pathophysiology of these conditions. 
  • Disorder-specific interventions are now being created and tests in clinical trials. 
  • There is reason for considerable optimism in the management of these conditions. 
  • On the other hand, while there has been significant progress, there are no cures, and the drugs that do ‘work’ are usually incredibly expensive. 
RudolfK

Author

Prof Rudolf Korinthenberg, MD is the head of the Department of Neuropediatric and Muscular Disorders at Children’s Hospital, University Hospital Freiburg. He publications have touched broad range of topics in child neurology, and during the last 18 years he has concentrated on the clinical scientific work in neuromuscular disorders. He has conducted several German multicenter trials in NMD as a principal investigator, being the head of the Trials Organization Center of MD-Net and The Clinical Trials Coordination Center of TREAT-NMD. 

Lecture recorded at the 30th EACD conference in Tbilisi, Georgia, May 28-31, 2018.