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Korinthenberg, R; Trollmann, R; Plecko, B; Stettner, GM; Blankenburg, M; Weis, J; Schoser, B; Muller-Felber, W; Lochbuehler, N; Hahn, G; Rudnik-Schoneborn, S.
Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents-Consensus-Based Practice Guidelines
CHILDREN-BASEL. 2021; 8(8): 687
Doi: 10.3390/children8080687
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- Co-Autor*innen der Med Uni Graz
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Plecko Barbara
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- Abstract:
- 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.
- Find related publications in this database (Keywords)
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neuropathy
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children
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adolescents
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Charcot-Marie-Tooth disease
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traumatic neuropathy
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inflammatory neuropathy
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metabolic neuropathy