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Inherited Polyneuropathies
Author(s) -
Rinaldi Robert,
Patel Atul
Publication year - 2013
Publication title -
pmandr
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.617
H-Index - 66
eISSN - 1934-1563
pISSN - 1934-1482
DOI - 10.1016/j.pmrj.2013.03.028
Subject(s) - medicine , medical diagnosis , inheritance (genetic algorithm) , clinical diagnosis , intensive care medicine , pathology , genetics , biology , gene
The large degree of clinical heterogeneity within each of the major categories of inherited neuropathies can lead to difficulties in making correct diagnoses based on clinical findings alone. The observation of key clinical findings coupled with electrophysiological findings and understanding of inheritance patterns, should allow the clinician to make judicious use of genetic testing to confirm the clinical diagnosis. An understanding of the clinical and electrophysiological nature of these disorders, as well as an understanding of how to clinically distinguish the inherited conditions from acquired conditions, is imperative to this process.