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Korinthenberg, Rudolf; Trollmann, Regina; Plecko, Barbara; Stettner, Georg M.; Blankenburg, Markus; Weis, Joachim; Schoser, Benedikt; Mueller-Felber, Wolfgang; Lochbuehler, Nina; Hahn, Gabriele and Rudnik-Schoeneborn, Sabine (2021): Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines. In: Children-Basel, Vol. 8, No. 8, 687

Full text not available from 'Open Access LMU'.


Disorders of the peripheral nerves can be caused by a broad spectrum of acquired or hereditary aetiologies. The objective of these practice guidelines is to provide the reader with information about the differential diagnostic workup for a target-oriented diagnosis. Following an initiative of the German-speaking Society of Neuropaediatrics, delegates from 10 German societies dedicated to neuroscience worked in close co-operation to write this guideline. Applying the Delphi methodology, the authors carried out a formal consensus process to develop practice recommendations. These covered the important diagnostic steps both for acquired neuropathies (traumatic, infectious, inflammatory) and the spectrum of hereditary Charcot-Marie-Tooth (CMT) diseases. Some of our most important recommendations are that: (i) The indication for further diagnostics must be based on the patient's history and clinical findings;(ii) Potential toxic neuropathy also has to be considered;(iii) For focal and regional neuropathies of unknown aetiology, nerve sonography and MRI should be performed;and (iv) For demyelinated hereditary neuropathy, genetic diagnostics should first address PMP22 gene deletion: once that has been excluded, massive parallel sequencing including an analysis of relevant CMT-genes should be performed. This article contains a short version of the guidelines. The full-length text (in German) can be found at the Website of the Arbeitsgemeinschaft der Wissenschftlichen Medizinischen Fachgesellschaften e.V. (AWMF), Germany.

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