Duchenne Muscular Dystrophy in a Girl

Czech version

Authors: E. Seemanová; P. Hedvičáková
Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky UK 2. LF, Praha vedoucí MUDr. M. Havlovicová
Published in: Čes-slov Pediat 2007; 62 (4): 234-238.
Category: The current Case

Overview

Duchenne muscular dystrophy is a gonosomal recessive progressive disorder with the occurrence 1:
3000. The clinical picture in boys-hemizygotes is very well known as the commonest myopathy. Less known is the fact that mild clinical features can occur in 10–20% of heterozygote carriers due to uneven lyonisation of the X chromosome. Authors refer the case of an isolated occurrence of Duchenne muscular dystrophy in a girl, where diagnosis could be confirmed by the detection of a mosaic disturbance of dystrophin and a deletion in Dys-gene on Xp21.

Key words:
Duchenne muscular dystrophy, X linked inheritance, manifestation in a carrier girl, unequal lyonization

Labels

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Article was published in

Czech-Slovak Pediatrics

2007 Issue 4