[Systematic neonatal detection of Duchenne's muscular dystrophy. Results after 10 years' of experience in Lyons (France)].
Neonatal screening of Duchenne Muscular Dystrophy using serum CK level measurement has been performed for 10 years in a part of the Rhône-Alpes area (40,000 newborns per year). This test avoids consecutive cases in an affected family by mean of an early genetic counselling. So, 10 potential DMD boys have been avoided (i.e. one out of five of the D.M.D., as a whole which would be born during this same ten year study). Details on familial structures and efficiency of genetic counselling are given, and this efficiency will be increased by the DNA study of the concerned families.
Plauchu
H
H
Service de Génétique, Hôtel-Dieu, Lyon.
Cordier
M P
MP
Carrier
H N
HN
Dellamonica
C
C
Dorche
C
C
Guibaud
P
P
Lauras
B
B
Cotte
J
J
Robert
J M
JM
D003402:Creatine Kinase / Q000097:blood; D005260:Female; D005602:France; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D009136:Muscular Dystrophies / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics
D003402:Creatine Kinase
Dépistage néonatal systématique de la dystrophie musculaire de Duchenne. Bilan après dix ans d'expérience dans la région de Lyon (France).