title: Huntington's disease in all (three) siblings and their one parent.
abstract: Three siblings (two girls and one boy) and their father are reported who developed Huntington's disease (HD). The two girls had onset at less than six years of age, while the boy started with symptoms at 12 years of age. The girl, the child number two, has expired and the youngest one is in a vegetative state. The elder brother is still mildly affected. The disease presented in a severe form and early in the females while it remained mild and presented late in the males. This is a rare disease involving all the three surviving siblings and their father. The diagnosis was confirmed after genetic testing.
authors.affiliation: Department of Child Health, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman. roshankoul@hotmail.com
authors.forename: Roshan Lal
authors.initials: RL
authors.lastname: Koul
mesh_terms: D000328:Adult; D002648:Child; D005192:Family Health; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D010375:Pedigree