Description

Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years. The diagnosis of HD rests on positive family history, characteristic clinical findings, and the detection of an expansion of 36 or more CAG trinucleotide repeats in HTT.

Genetic testing for Huntington disease (HD) in the pediatric population requires special consideration. There is no medical reason to test a child without symptoms of HD. When children become adults, they may make their own choice about DNA testing. Children with possible symptoms of HD should be evaluated by a multidisciplinary team including a neurologist, genetic counselor, social worker, and a psychologist.