Document
Juvenile onset Huntington's disease in an Omani child with asymptomatic, at risk parents.
Identifier
DOI: 10.1136/jmg.34.8.701
Source
Journal of medical genetics. v. 34, 8, p. 701
Contributors
Country
United States.
City
Maryland.
Publisher
National Library of Medicine.
Gregorian
1997-08-01
Language
English
Subject
English abstract
A 6 year old Omani Arab girl presented with
one year's history of progressive intellectual
deterioration, grimacing, dysarthria, dystonic
posturing of the hands, and ataxia with falls,
and was now severely retarded and mute. She
came from a family affected by Huntington's
disease (HD). Her parents, III. 19 and
III.20, who were cousins aged 36 and 27
years respectively, reported that their mothers, II.2 and II.5, had died from HD. Both
parents appeared to be healthy and were
asymptomatic, but they suspected that their
child had inherited the "family disease".
ISSN
0022-2593
Category
Journal articles