Table of ContentsView AllTable of ContentsSelf-Checks/At-Home TestingPhysical ExaminationLabs and TestsImagingDifferential DiagnosisNext in Huntington’s Disease GuideWhat Is Huntington’s Disease?

Table of ContentsView All

View All

Table of Contents

Self-Checks/At-Home Testing

Physical Examination

Labs and Tests

Imaging

Differential Diagnosis

Next in Huntington’s Disease Guide

You can have agenetic testto determine whether you carry the gene that causesHuntington’s disease. You would also have a clinical diagnosis when you develop symptoms.

The condition is hereditary, and if one of your parents has Huntington’s disease, you have a 50% chance of inheriting the gene. Having the gene means that you will eventually develop the condition.

The signs of Huntington’s disease can begin gradually—with personality changes, cognitive decline, involuntary movements, and diminished muscle control.

Verywell / Laura Porter

Whether you anticipate developing Huntington’s disease in the future or whether you have already been diagnosed with the condition, you should be familiar with the effects of the disease so you can get medical attention if you develop them.

Signs that you might have Huntington’s disease include:

You can experience these effects intermittently, and they may increase in frequency. If you have a family history of Huntington’s disease and have had a positive genetic test, you can anticipate these issues starting in middle age or later.

If you have a family history of Huntington’s disease and have optednotto have a genetic test, these signs could indicate that Huntington’s disease is starting, or they can be an indication of another condition (such as depression).

Advancing Disease

If you have already been diagnosed with Huntington’s disease, your condition will likely decline.

Signs that your disease is worsening include:

It’s important that you seek medical attention for worsening Huntington’s disease, because you could benefit from different interventions as your disease advances.

If you have signs of Huntington’s disease or if you know that you will develop the disease because you’ve had a positive genetic test, your healthcare provider will look for early signs of the disease with a physical examination. This will include a detailed neurological and cognitive examination.

Issues that can signal Huntington’s disease include:

The NIH Stroke Scale (NIHSS)

The physical examination is not a definitive diagnostic feature of Huntington’s disease, but as the disease advances, detectable physical and cognitive abnormalities will emerge. Some of these abnormalities can be similar to those of other diseases, such as movement disorders ordementia—and these conditions might be considered during your diagnostic evaluation.

Functional Scales

After your diagnosis of Huntington’s disease, your medical team may track your condition using measures such as the Total Functional Capacity (TFC) scale or the Adult Functional Adaptive Behavior (AFAB) scale. These scales measure and score your cognitive and physical abilities.

The advantages of using these types of scales include objectivity and consistency. They can also serve as a way to assess milestones that might be used to help you decide when it’s time to make certain adjustments to your daily life (such as making the decision to stop driving or working).

The definitive test for Huntington’s disease is a genetic test that examines yourDNA. This is done with a blood sample. This test can identify the presence of the genetic mutation (alteration) that causes Huntington’s disease.

The mutation is located on the HTT gene, which is found on chromosome four. If one of your copies of chromosome four has the mutation (which described as a CAG repeat) in the HTT gene, then you are expected to develop the condition.

People with adult-onset Huntington’s disease typically have 40 to 50 CAG repeats,while those with juvenile Huntington’s disease tend to have more than 60 CAG repeats.

Accuracy of the Genetic TestIf you have the gene mutation, you will develop the disease. And if you don’t have the gene mutation, you will not develop the disease. This test is considered highly accurate, with high sensitivity and specificity, and it is not associated with false positive or false negative results.

Accuracy of the Genetic Test

If you have the gene mutation, you will develop the disease. And if you don’t have the gene mutation, you will not develop the disease. This test is considered highly accurate, with high sensitivity and specificity, and it is not associated with false positive or false negative results.

Besides the genetic test, there are no other biological markers that can indicate the presence or absence of Huntington’s disease, and there are no other tests that give any indication of the likelihood that you might or might not develop the condition at some time in the future.

Imaging tests are not considered a predictor or an indicator of Huntington’s disease. The condition is associated with atrophy (shrinking) throughoutthe brain, especially in the caudate and putamen areas, which are associated with cognitive and motor abilities.These changes are not consistent, however, and are not necessarily present in everyone who has Huntington’s disease.

Furthermore, if you have been diagnosed with Huntington’s disease, you may need to have imaging tests to identify coexisting disease (such as a stroke) or complications of Huntington’s disease (such as head trauma due to falling).

A number of medical conditions can have symptoms similar to those of Huntington’s disease. Sometimes, these conditions can be differentiated from Huntington’s disease based on symptoms, physical examination, and diagnostic testing. But often, it’s the eventual progression over time that helps clarify the distinction.

Conditions that may be similar to Huntington’s disease include:

It is possible that you could have Huntington’s disease as well as another of these progressive neurological conditions, and the combination can lead to a confusing and difficult diagnostic process, with complex treatment planning.

A Word From Verywell

The diagnosis of Huntington’s disease involves a risk assessment, which is based on your family history and genetic testing. Confirmation that the condition has started to have its effects is based on your symptom history and your neurological and cognitive examination.

If you have the disease, you will also need to have periodic medical assessments to identify any decline that you might be experiencing as the disease progresses.

5 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Gibson JS, Ridner SH, Dietrich MS, Sohn MB, Rhoten BA, Claassen DO.Measuring functional status in Huntington’s disease.Mov Disord.2020 Oct 27. doi:10.1002/mds.28363Saft C, Leavitt BR, Epplen JT.Clinical utility gene card for: Huntington’s disease.Eur J Hum Genet.2014 May;22(5). doi:10.1038/ejhg.2013.206.Langbehn DR, Registry Investigators of the European Huntington Disease Network.Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.Am J Hum Genet. 2022;109(1):172-179. doi:10.1016/j.ajhg.2021.12.002Moeller AA, Felker MV, Brault JA, Duncan LC, Hamid R, Golomb MR.Patients with extreme early onset juvenile Huntington Disease can have delays in diagnosis: A case report and literature review.Child Neurol Open. 2021;8:2329048X211036137. doi:10.1177/2329048X211036137Scahill RI, Zeun P, Osborne-Crowley K, et al.Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington’s disease Young Adult Study (HD-YAS): a cross-sectional analysis.Lancet Neurol.2020 Jun;19(6):502-512. doi:10.1016/S1474-4422(20)30143-5

5 Sources

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Gibson JS, Ridner SH, Dietrich MS, Sohn MB, Rhoten BA, Claassen DO.Measuring functional status in Huntington’s disease.Mov Disord.2020 Oct 27. doi:10.1002/mds.28363Saft C, Leavitt BR, Epplen JT.Clinical utility gene card for: Huntington’s disease.Eur J Hum Genet.2014 May;22(5). doi:10.1038/ejhg.2013.206.Langbehn DR, Registry Investigators of the European Huntington Disease Network.Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.Am J Hum Genet. 2022;109(1):172-179. doi:10.1016/j.ajhg.2021.12.002Moeller AA, Felker MV, Brault JA, Duncan LC, Hamid R, Golomb MR.Patients with extreme early onset juvenile Huntington Disease can have delays in diagnosis: A case report and literature review.Child Neurol Open. 2021;8:2329048X211036137. doi:10.1177/2329048X211036137Scahill RI, Zeun P, Osborne-Crowley K, et al.Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington’s disease Young Adult Study (HD-YAS): a cross-sectional analysis.Lancet Neurol.2020 Jun;19(6):502-512. doi:10.1016/S1474-4422(20)30143-5

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.

Gibson JS, Ridner SH, Dietrich MS, Sohn MB, Rhoten BA, Claassen DO.Measuring functional status in Huntington’s disease.Mov Disord.2020 Oct 27. doi:10.1002/mds.28363Saft C, Leavitt BR, Epplen JT.Clinical utility gene card for: Huntington’s disease.Eur J Hum Genet.2014 May;22(5). doi:10.1038/ejhg.2013.206.Langbehn DR, Registry Investigators of the European Huntington Disease Network.Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.Am J Hum Genet. 2022;109(1):172-179. doi:10.1016/j.ajhg.2021.12.002Moeller AA, Felker MV, Brault JA, Duncan LC, Hamid R, Golomb MR.Patients with extreme early onset juvenile Huntington Disease can have delays in diagnosis: A case report and literature review.Child Neurol Open. 2021;8:2329048X211036137. doi:10.1177/2329048X211036137Scahill RI, Zeun P, Osborne-Crowley K, et al.Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington’s disease Young Adult Study (HD-YAS): a cross-sectional analysis.Lancet Neurol.2020 Jun;19(6):502-512. doi:10.1016/S1474-4422(20)30143-5

Gibson JS, Ridner SH, Dietrich MS, Sohn MB, Rhoten BA, Claassen DO.Measuring functional status in Huntington’s disease.Mov Disord.2020 Oct 27. doi:10.1002/mds.28363

Saft C, Leavitt BR, Epplen JT.Clinical utility gene card for: Huntington’s disease.Eur J Hum Genet.2014 May;22(5). doi:10.1038/ejhg.2013.206.

Langbehn DR, Registry Investigators of the European Huntington Disease Network.Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.Am J Hum Genet. 2022;109(1):172-179. doi:10.1016/j.ajhg.2021.12.002

Moeller AA, Felker MV, Brault JA, Duncan LC, Hamid R, Golomb MR.Patients with extreme early onset juvenile Huntington Disease can have delays in diagnosis: A case report and literature review.Child Neurol Open. 2021;8:2329048X211036137. doi:10.1177/2329048X211036137

Scahill RI, Zeun P, Osborne-Crowley K, et al.Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington’s disease Young Adult Study (HD-YAS): a cross-sectional analysis.Lancet Neurol.2020 Jun;19(6):502-512. doi:10.1016/S1474-4422(20)30143-5

Meet Our Medical Expert Board

Share Feedback

Was this page helpful?Thanks for your feedback!What is your feedback?OtherHelpfulReport an ErrorSubmit

Was this page helpful?

Thanks for your feedback!

What is your feedback?OtherHelpfulReport an ErrorSubmit

What is your feedback?