INDAGINE SULLE PORTATRICI DELLA DISTROFIA MUSCOLARE DI DUCHENNE IN LOMBARDIA

Translated title of the contribution: Studies of Duchenne muscular dystrophy carriers in Lombardy

G. Comi, M. Comola, G. Galardi

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

X-linked Duchenne Muscular Dystrophy is the most severe and most common muscular dystrophy. At present, there is no effective treatment and therefore the eugenetic primary prevention detecting the carriers of the trait is very important. Many screening methods for the detection of the heterozygous females have been proposed and some of them must be considered. At present, research methods need further investigations. Performing a large range prevention programme in the authors area requires the utilization of reliable, specific, sensitive methods that could be applied easily and at low cost. To this end, since 1980 we have been performing, a screening programme in 'Regione Lombardia'; the following methods were used: -three determinations, at intervals of 15 days, of CK and PK serum levels; -quatitative electromyography on three muscles of the limbs; -muscle biopsy. The authors present the preliminary results relative to the first 56 subjects: the sample is still too small to allow us to affirm that the triple enzymatic determination selms to significantly inrease the detection rate, as well as PK determination; furthermore, while the bioptic results until now have appeared concordant with those of enzymatic assays, the EMG turned out exceptionally positive in those women whose enzymatic results had been negative.

Translated title of the contributionStudies of Duchenne muscular dystrophy carriers in Lombardy
Original languageItalian
Title of host publicationCardiomyology
Pages173-180
Number of pages8
Volume1
Edition2
Publication statusPublished - 1982

ASJC Scopus subject areas

  • Medicine(all)

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