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Genetic and Rare Diseases Information Center (GARD)

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Juvenile Huntington disease

Other Names for this Disease
  • Huntington disease, juvenile onset
  • JHD
  • Juvenile onset HD
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Tests & Diagnosis

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How is Juvenile Huntington disease (HD) diagnosed?

The diagnosis is usually made by experienced neurologists. A neurologist will often first obtain the person’s medical history asking about recent intellectual or emotional problems, which may be indications of HD. A family history may be taken as well, looking for autosomal dominant inheritance in a family. Usually a clinical exam is also performed where the person’s hearing, eye movements, strength, coordination, involuntary movements (chorea), sensation, reflexes, balance, movement, and mental status are examined. People with HD commonly have impairments in the way the eye follows or fixes on a moving target. Abnormalities of eye movements vary from person to person and differ, depending on the stage and duration of the illness.[1]

Genetic testing is usually done to confirm a diagnosis of juvenile HD in an individual who is exhibiting HD-like symptoms. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of repeats in the HD gene region.[1] 

GeneTests lists the names of laboratories that are performing genetic testing for Juvenile HD. To view the contact information for the clinical laboratories, conducting testing click herePlease note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you.
Last updated: 3/15/2011

  1. Huntington Disease. National Institute of Neurological Disorders and Stroke (NINDS). August 2010; Accessed 3/15/2011.