The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome.
The authors have observed a hand- and arm-squeezing behavior that seems to be highly characteristic of Smith-Magenis syndrome (SMS). This behavior serves as a useful diagnostic marker for SMS, a disorder in which the physical phenotype is often subtle. The squeezing behavior appears to be part of a complex upper-body tic which is exacerbated by happiness, excitement or overstimulation. The tic most often manifests as a 'self-hug', and is frequently associated with facial grimacing. Fleeting arm- and hand-squeezing movements may be repeated hundreds of times over the course of a day, but they do not significantly interfere with other hand functions. The excitable self-hugging in people with SMS may be one of the more benign and appealing aspects of their behavioral phenotype.
Finucane
B M
BM
Elwyn Inc., PA 19063.
Konar
D
D
Haas-Givler
B
B
Kurtz
M B
MB
Scott
C I
CI
D000293:Adolescent; D000328:Adult; D001132:Arm; D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006225:Hand; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics / Q000503:physiopathology*; D016728:Self-Injurious Behavior / Q000235:genetics / Q000503:physiopathology*; D013035:Spasm; D013577:Syndrome