Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy

Abstract

X-LINKED Duchenne muscular dystrophy is a serious genetic disorder for which at present there is no effective treatment. It is characterised by progressive muscle wasting and weakness which first becomes apparent around the age of 3–5 years, leading to death usually before the age of 20 (ref. 1). A proportion of female heterozygous carriers have significantly elevated serum levels of creatine kinase and a woman who is found to be at high risk of having an affected son can elect to have amniocentesis with antenatal foetal sexing and selective abortion of any male foetus. A proportion of such aborted foetuses will, however, be normal but since the cause of the disorder is not known it is not yet possible to diagnose an affected male foetus in utero. As a first step in this direction we have examined the muscle histology and levels of creatine kinase in serum, muscle and amniotic fluid in a number of therapeutically aborted male foetuses at risk for Duchenne muscular dystrophy. We report that muscle histology, and possibly the serum level of creatine kinase, may be abnormal in this disorder even by the second trimester of pregnancy.