Myotonic dystrophy

421.gif (681793 bytes)
view 666 KB version
view 10 KB version

A three-generation family affected with myotonic dystrophy.  The degree of severity increases in each generation.  The grandmother (right) is only slightly affected, but the mother (left) has a characteristic narrow face and somewhat limited facial expression.  The baby is more severely affected and has the facial features of children with neonatal-onset myotonic dystrophy, including an open, triangular-shaped mouth.  The infant has more than 1000 copies of the trinucleotide repeat, whereas the mother and grandmother each have approximately 100 repeats.


Examinations    Photographs    Movies   Links    Home   Search   noJava Home