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A Journal on Internal Medicine
Indexed/Abstracted in: Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 1,236
Minerva Medica 2003 October;94(5):301-18
Diagnosis of hereditary neuropathies in adult-subjects
The clinical approach to hereditary neuropathies of adulthood has become very complex. The following issues are reviewed: elements that point to a neuropathy of inherited origin, different modalities of presentation, laboratory and instrumental diagnostic tests, including molecular tests, symptoms and signs of involvement of other organs. It is useful to identify different phenotypes according to: disease course; involvement of motor, sensory, autonomic fibres; site of lesion (neuropathy versus neuronopathy); calibre of involved fibres (small-fibre versus large-fibre neuropathy); presence of distinctive symptoms (neuropathic pain); involvement of other organs or apparatus. Charcot-Marie-Tooth (CMT) disease, familial amyloid polyneuropathy (FAP), hereditary sensory and autonomic neuropathy, Fabry disease, Tangier disease, porphyric neuropathies, Refsum disease, hereditary neuropathy with liability to pressure palsies (HNPP), hereditary neuralgic amyotrophy and other rare disorders involving the peripheral nervous system are reviewed.