Biomaterial Database

Intrafamilial correlation in idiopathic torsion dystonia. 1991

N A Fletcher, and A E Harding, and C D Marsden

University Department of Clinical Neurology, Institute of Neurology, London, England.

Age of onset and severity of idiopathic torsion dystonia (ITD) were studied in 100 British families containing 107 index cases and 79 secondary cases. Analysis of variance of these clinical features did not suggest that ITD is genetically heterogenous, and they were similar in Jewish and non-Jewish patients. Intrafamilial correlation for age of onset was low, particularly between parents and their offspring, suggesting that the ITD phenotype may be determined in part by nongenetic factors or an allelic modifying gene.

UI	MeSH Term	Description	Entries
D007585	Jews	An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.	Jew
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D008957	Models, Genetic	Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.	Genetic Models,Genetic Model,Model, Genetic
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D004422	Dystonia Musculorum Deformans	A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)	Childhood Torsion Disease,Idiopathic Torsion Dystonia,Oppenheim-Ziehen Disease,Progressive Torsion Spasm,Torsion Dystonia,Dystonia Deformans Musculorum,Dystonia Deformans Progressiva,Torsion Disease of Childhood,Dystonia, Idiopathic Torsion,Dystonias, Idiopathic Torsion,Dystonias, Torsion,Idiopathic Torsion Dystonias,Oppenheim Ziehen Disease,Spasm, Progressive Torsion,Torsion Disease, Childhood,Torsion Dystonia, Idiopathic,Torsion Spasm, Progressive
D005260	Female		Females
D006580	Genetic Carrier Screening	Identification of individuals who are heterozygous at a GENETIC LOCUS for a recessive PHENOTYPE.	Carriers, Genetic, Detection,Genetic Carriers, Detection,Heterozygote Detection,Carrier Detection, Genetic,Detection, Genetic Carrier,Genetic Carrier Detection,Heterozygote Screening,Carrier Screening, Genetic,Detection, Heterozygote,Screening, Genetic Carrier,Screening, Heterozygote,Screenings, Genetic Carrier
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths