Synopsis of resource:
The former nihilistic approach to the management of patients with genetic neuromuscular diseases is no longer justified. Significant improvements have been made in supportive and rehabilitative care. Increased interest of pharmaceutical industry has led to the development of disease-directed treatment trials. Pharmacotherapeutic benefits have been shown for a number of patients. However, for most patients the ultimate goal of cure or arrest of progression has not yet been achieved. High cost of the new treatments hinders participation of patients in low-income regions.
Key learning outcomes
- Scientific and political advances in research for neuromuscular disorders (NMD)
- New international consensus-based guidelines (“Standards of Care”) for the most frequent NMDs
- Recent advances in the development of medical treatments for Duchenne muscular dystrophy and spinal muscular atrophy.
Authors
Rudolf Korinthenberg, Dr. med. , Professor of Pediatric Neurology
1949 born in Duesseldorf Germany, 1967-1973 Medical Student University Muenster/Westfalia, 1973 doctoral thesis, 1973-1975 internship in surgery and internal medicine, 1975-1976 medical officer, German Army, 1976-1981 residency in Pediatrics University Hospital Muenster/Westfalia, 1981-1986 senior resident in Pediatrics and Neuropediatrics, 1985 habilitation in Pediatrics and Neuropediatrics, 1986-1990 attending physician in Pediatrivca and Neuropediatrics Mannheim/University of Heidelberg, 1990-2017 Director and Professor Deoartment of Neuropediatrics University Medical Center Freiburg/Germany, 2017 retirement from clinical duties, 2017-ongoing Chairman of Ethics Committee University of Freiburg/Germany.
