Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy and is caused by defects in the DMD gene, which is responsible for making the protein dystrophin. It is an X-linked disease, which means that it affects almost exclusively boys, and is characterized by progressive muscle degeneration and weakness. Affected individuals have proximal muscle weakness, which causes a waddling gait, toe-walking, lordosis, frequent falls, and difficulty in getting up from the floor and climbing stairs. First symptoms are often evident before 3 years of age, but the disease is often not diagnosed until several years later. Its progressive nature means that most affected boys will start using a wheelchair around the age of 10, although treatments such as steroid therapy can help retain walking ability for longer.

In addition to the vulnerability of skeletal muscle, patients present with weakness of breathing muscles and may have cardiomyopathy, scoliosis and learning difficulties. DMD affects about one in 5,000 males at birth. The DMD gene is the largest known gene in humans and defects in the gene cause the absence of functional dystrophin, a component of the dystrophin-associated glycoprotein complex which anchors the extracellular matrix to the cytoskeleton via F-actin. Dystrophin accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems.

Our group’s DMD-related research focuses on the pathophysiological processes leading to the cardiomyopathy symptoms and the definition of new treatment concepts via the utilization of a new established cardiac in vitro model for the disease. We are also engaged in a variety of projects towards the identification and validation of DMD biomarkers as well as in clinical research.

Hanns is a member of the Scientific Advisory Board of the German Duchenne foundation “Aktion Benni & Co” and in 2016 he was honored with the “Humanpreis” Lifetime Achievement Award for his outstanding commitment to the field of Duchenne research.





*Photo with the kind permission of Silvia Hornkamp, Aktion Benni & Co



Relevant publications

Kekou, K, Svingou, M, Vogiatzakis, N, Nitsa, E, Veltra, D, Marinakis, NM et al.. Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast heterogeneous DMD gene variants. Expert Rev Mol Diagn. 2023. PMID:37754746

van Cruchten, RTP, van As, D, Glennon, JC, van Engelen, BGM, 't Hoen, PAC, OPTIMISTIC consortium et al.. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC Med. 2022.20 (1)395 PMID:36352383

McMillan, HJ, Lochmüller, H. Biomarkers in Duchenne and Becker muscular dystrophies. Muscle Nerve. 2021.64 (1)4-5 PMID:34076279

Hodgkinson, V, Lounsberry, J, M'Dahoma, S, Russell, A, Jewett, G, Benstead, T et al.. The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry. J Neuromuscul Dis. 2021.8 (1)53-61 PMID:32925088

Passarelli, C, Selvatici, R, Carrieri, A, Di Raimo, FR, Falzarano, MS, Fortunato, F et al.. Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy. Front Genet. 2020.11 605 PMID:32719714

Strandberg, K, Ayoglu, B, Roos, A, Reza, M, Niks, E, Signorelli, M et al.. Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy. J Neuromuscul Dis. 2020.7 (3)231-246 PMID:32390640

Landfeldt, E, Thompson, R, Sejersen, T, McMillan, HJ, Kirschner, J, Lochmüller, H et al.. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis. Eur J Epidemiol. 2020.35 (7)643-653 PMID:32107739

Capitanio, D, Moriggi, M, Torretta, E, Barbacini, P, De Palma, S, Viganò, A et al.. Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients. J Cachexia Sarcopenia Muscle. 2020.11 (2)547-563 PMID:31991054

Spitali, P, Zaharieva, I, Bohringer, S, Hiller, M, Chaouch, A, Roos, A et al.. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. Eur J Hum Genet. 2020.28 (6)815-825 PMID:31896777

Signorelli, M, Ayoglu, B, Johansson, C, Lochmüller, H, Straub, V, Muntoni, F et al.. Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 2020.11 (2)505-517 PMID:31881125

See more on PubMed