2002 issue 2

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Volume 11, issue 2

Review papers

A new insight into genetic and diagnostic aspects of hereditary motor and sensory neuropathy type I (HMSN t. I)

KRZYSZTOF NADGRODKIEWICZ1, GRZEGORZ BIAŁEK1
1. Oddział Neurologii Wojewódzkiego Szpitala Specjalistycznego w Radomiu
Postępy Psychiatrii i Neurologii, 2002, 11, 165-171
Keywords: hereditary motor and sensory neuropathy, EMG diagnostics, neuropathology diagnostics, genetic examination
Abstract

Hereditary motor and sensory neuropathy t. I (HMSN t. I) is a disease inherited in an autosomal dominant way. Three gene loci have been identified so far, in chromosomes 17, l, and 10. A significant cause of the HMSN are abnormalities within the peripheral myelin protein 22 (PMP 22).The disease develops slowly in I-III decades of life. The polyneuropathic syndrome discovered in physical examination, frequently with such symptoms as feet deformity, EMG-confirmed chronic denervation process in the upper and lower limbs, and characteristic neuropathological changes (primary myelin degeneration with segmental myelin sheath thickening), as well as an analysis of pedigree and genetic material should lead to the diagnosis of HMSN t. I. The diagnosed HMSN requires that rehabilitation should be started immediately.

Address for correspondence:
Adres: Dr KrzysztofNadgrodkiewicz, Oddział Neurologii Wojewódzkiego Szpitala Specjalistycznego,
ul. Aleksandrowicza 5, 26-617 Radom