Biomaterial Database

Congenital ocular motor apraxia with autosomal dominant inheritance. 2000

P H Phillips, and M C Brodsky, and P M Henry

Department of Ophthalmology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

OBJECTIVE To document congenital ocular motor apraxia in five first-degree relatives. METHODS Case series. Five family members with a history of horizontal head thrusting had neuro-ophthalmologic evaluation. Magnetic resonance imaging of the brain was obtained in the proband. RESULTS Four siblings (one boy and three girls) had congenital ocular motor apraxia. The father had head thrusting as a child and displayed residual signs of the disorder. Magnetic resonance imaging disclosed no central nervous system abnormalities in the father. CONCLUSIONS Congenital ocular motor apraxia can be inherited as an autosomal dominant trait.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D001072	Apraxias	A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)	Dressing Apraxia,Dyspraxia,Ideational Apraxia,Apraxia,Apraxia of Phonation,Apraxia, Articulatory,Apraxia, Developmental Verbal,Apraxia, Facial-Oral,Apraxia, Gestural,Apraxia, Motor,Apraxia, Oral,Apraxia, Verbal,Developmental Verbal Dyspraxia,Dyspraxia, Articulatory,Dyspraxia, Oral,Dyspraxia, Verbal,Speech And Language Disorder With Orofacial Dyspraxia,Speech-Language Disorder 1,1s, Speech-Language Disorder,Apraxia, Dressing,Apraxia, Facial Oral,Apraxia, Ideational,Apraxias, Articulatory,Apraxias, Developmental Verbal,Apraxias, Dressing,Apraxias, Facial-Oral,Apraxias, Gestural,Apraxias, Ideational,Apraxias, Motor,Apraxias, Oral,Apraxias, Verbal,Articulatory Apraxia,Articulatory Apraxias,Articulatory Dyspraxia,Articulatory Dyspraxias,Developmental Verbal Apraxia,Developmental Verbal Apraxias,Developmental Verbal Dyspraxias,Disorder 1, Speech-Language,Disorder 1s, Speech-Language,Dressing Apraxias,Dyspraxia, Developmental Verbal,Dyspraxias,Dyspraxias, Articulatory,Dyspraxias, Developmental Verbal,Dyspraxias, Oral,Dyspraxias, Verbal,Facial-Oral Apraxia,Facial-Oral Apraxias,Gestural Apraxia,Gestural Apraxias,Ideational Apraxias,Motor Apraxia,Motor Apraxias,Oral Apraxia,Oral Apraxias,Oral Dyspraxia,Oral Dyspraxias,Phonation Apraxia,Phonation Apraxias,Speech Language Disorder 1,Speech-Language Disorder 1s,Verbal Apraxia,Verbal Apraxia, Developmental,Verbal Apraxias,Verbal Apraxias, Developmental,Verbal Dyspraxia,Verbal Dyspraxia, Developmental,Verbal Dyspraxias,Verbal Dyspraxias, Developmental
D012438	Saccades	An abrupt voluntary shift in ocular fixation from one point to another, as occurs in reading.	Pursuit, Saccadic,Saccadic Eye Movements,Eye Movement, Saccadic,Eye Movements, Saccadic,Movement, Saccadic Eye,Movements, Saccadic Eye,Pursuits, Saccadic,Saccade,Saccadic Eye Movement,Saccadic Pursuit,Saccadic Pursuits
D015785	Eye Diseases, Hereditary	Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.	Hereditary Eye Diseases,Eye Disease, Hereditary,Hereditary Eye Disease