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Lookup NU author(s): Professor Hanns Lochmuller, Professor Volker StraubORCiD
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Muscular dystrophies (MD) constitute a group of inherited disorders characterized by progressive weakness of skeletal and sometimes cardiac muscle. MD are rare disorders affecting approximately 26,000 to 40,000 people in Germany based on a pre valence of 1:2000 to 1:3000 (estimate of the Association Française contre les Myopathies, AFM) and a population of 80 million people residing in Germany. More than 30 forms of MD are recognized today caused by different genetic defects. Based on the symptoms of an individual patient the underlying genetic defect cannot be determined, since all MD have the following in common: Muscle fibers are destroyed and become replaced by fatty and fibrous tissue. Various forms of MD are caused by defects of proteins residing in the sarcolemma, the cell membrane of muscle fibers. Other forms are caused by defects of proteins that are associated to the nucleus, to the sarcomer or the cytoplasm. Moreover, there are numerous forms where the exact molecular defect is unknown to date. Even though the underlying defect is known for many MD, the pathogenic process that leads to the decay of musculature is poorly understood. At present, MD cannot be cured. MD are treated by physiotherapy, surgery and medication that may delay progression. Symptomatic therapy such as cardiac pace makers may be life-saving and improve quality of life in many patients. For optimizing research into the MD, a network, the muscular dystrophy network or MD-NET, was initiated and has been supported by the German ministry of education and research (BMBF) since 2003. © 2007 Springer Medizin Verlag.
Author(s): Lochmuller H, Straub V
Publication type: Article
Publication status: Published
Journal: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz
Year: 2007
Volume: 50
Issue: 12
Pages: 1518-1523
ISSN (print): 1436-9990
ISSN (electronic): 1437-1588
Publisher: Springer
URL: http://dx.doi.org/10.1007/s00103-007-0386-4
DOI: 10.1007/s00103-007-0386-4
PubMed id: 18026885
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