Ta. Blondis et al., ASPERGER SYNDROME-ASSOCIATED WITH STEINERTS MYOTONIC-DYSTROPHY, Developmental Medicine and Child Neurology, 38(9), 1996, pp. 840-847
Steinert's myotonic dystrophy was diagnosed in a 10-year-old girl with
Asperger syndrome, This form of myotonic dystrophy is one of a growin
g list of genetic diseases that can be diagnosed by analysis of a gene
with trinucleotide repeats that may expand. The patient has the large
st such expansion known within her pedigree. She has many of the psych
ological deficits that have bean reported in adult-onset myotonic dyst
rophy. This is the first known report of an association of this disord
er with Asperger syndrome. Recently Moebius syndrome has been found in
association with disorders of die autistic spectrum: physicians pract
icing developmental medicine should now also consider Steinert's myoto
nic dystrophy when evaluating children with facial diplegia.