In our CMT clinic, we focus on two main areas of research: Firstly, the discovery of new disease genes, the determination of disease relevance of certain gene mutations, and the establishment of gene-disease relationships. Secondly, we are researching the establishment of early disease detection and progression markers in preparation for clinical trials (trial readiness). Funded by IZKF, DFG, and other grants (ASPIRE 2018), our methods include genetic studies, clinical neurological examinations, nerve conduction studies, sudomotor testing, nerve and muscle ultrasound, and whole-body muscle MRI studies. Our work has been recognized by the German Society for Muscular Diseases (DGM 2021, 2025), the German Society of Neurology (DGN 2021, 2023, 2025), the RADIZ rare disease initiative (2015), and the International Society for Neuromuscular Diseases (ICNMD 2022). We are part of the national CMT registry, the GENESIS Network, the European CMT Research Association (ECRA), and the European Neuromuscular Research Consortium (EURO-NMD).
In collaboration with other centers, we include patients in various multicenter studies, such as the global SORD Natural History Study, and have established our own registry for genetic and idiopathic neuropathic pain syndromes and small fiber neuropathies as part of the Scientific Center for Neuropathic Pain Aachen. Within the University Hospital of the RWTH Aachen University, we work closely with the Center of Human Genetics and Genomic Medicine, the Institutes for Neuropathology, Neuroanatomy, Neurophysiology, and Molecular Cell Biology, as well as with the Departments for Neuropediatrics, Psychiatry, Radiology, Pain medicine, and Palliative care.
Dr. Maike Dohrn is a board-certified neurologist and group leader at the Department of Neurology, RWTH Aachen University Hospital, Germany. With research stays in Tübingen (Germany), Porto (Portugal), and Miami (Florida, USA), her experience in neuromuscular research and patient care dates back to 2012. Her scientific focus is on gene discovery and gene-disease relationships, as well as natural history, outcome parameters, and interventional trials.
