ASPERGER SYNDROME-ASSOCIATED WITH STEINERTS MYOTONIC-DYSTROPHY

Citation
Ta. Blondis et al., ASPERGER SYNDROME-ASSOCIATED WITH STEINERTS MYOTONIC-DYSTROPHY, Developmental Medicine and Child Neurology, 38(9), 1996, pp. 840-847
Citations number
27
Categorie Soggetti
Pediatrics,"Clinical Neurology
ISSN journal
00121622
Volume
38
Issue
9
Year of publication
1996
Pages
840 - 847
Database
ISI
SICI code
0012-1622(1996)38:9<840:ASWSM>2.0.ZU;2-O
Abstract
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.