[Congenital myotonic dystrophy. Diagnostic difficulties].
Congenital myotonic dystrophy is the neonatal form of Steinert myotonia. It is particularly severe when the mother carries the gene. The diagnosis is made after finding the myotonia in the mother. Prenatal diagnosis can be made by researching the Steinert's disease gene by fetal DNA analysis.
Dalphin
M L
ML
Service de pédiatrie, CHU, Besançon, France.
Noir
A
A
Monnier
G
G
Menget
A
A
D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009223:Myotonic Dystrophy / Q000151:congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D014057:Tomography, X-Ray Computed
Dystrophie myotonique congénitale. Difficultés diagnostiques.