Making the Huntington’s Disease Diagnosis

A clinical diagnosis of Huntington's disease (HD) is usually made on the basis of family history and the presence of unequivocal motor symptoms. It may be confirmed by a genetic test. While HD can progress similarly, each person experiences HD symptoms in a unique way.11

 

Providing Hope During Diagnosis

How you communicate a Huntington’s disease diagnosis can have a bigger impact than you may realize. Hear about Ed’s diagnosis experience. 

Learn how testing protocols can assist in providing a hopeful diagnosis experience

Genetic Testing Options

Huntington’s disease testing can potentially occur in 3 clinical situations11:

  • Predictive testing: an HD gene test for an asymptomatic person wishing to know if he or she carries the expanded gene 
  • Confirmatory testing: an HD gene test to confirm a clinical HD diagnosis
  • Prenatal testing: an HD gene test that can assist in family planning

The Decision to Undergo Genetic Testing Is Very Personal 

It is important for your patients to be fully supported before, during, and after their genetic testing journey. Involving a team of HD specialists, including genetic counselors and social workers, will help your patients navigate these complex choices. The Huntington’s Disease Society of America (HDSA) has created testing protocols that can help during this process.11,12

Learn about the HDSA testing protocols

A Personal Choice

While siblings each have a 50/50 chance of inheriting the huntingtin gene mutation, the decision to undergo genetic testing is unique and personal to every individual. Watch Jeanette and Jackie’s story.11,12

    • Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993;72:971-983.

      Huntington’s Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993;72:971-983.

    • Ghosh R, Tabrizi SJ. Huntington disease. In: Geschwind DH, Paulson HL, Klein C, eds. Handbook of Clinical Neurology, Vol 147. Elsevier BV; 2018;255-278. https://doi.org/10.1016/B978-0-444-63233-3.00017-8

      Ghosh R, Tabrizi SJ. Huntington disease. In: Geschwind DH, Paulson HL, Klein C, eds. Handbook of Clinical Neurology, Vol 147. Elsevier BV; 2018;255-278. https://doi.org/10.1016/B978-0-444-63233-3.00017-8

    • Huntington G. On chorea. J Neuropsychiatry Clin Neurosci. 2003;15(1):109-113.

      Huntington G. On chorea. J Neuropsychiatry Clin Neurosci. 2003;15(1):109-113.

    • Moscovich M, Munhoz RP, Becker N, et al. Américo Negrette and Huntington’s disease. Arq Neuropsiquiatr. 2011;69(4):711-713.

      Moscovich M, Munhoz RP, Becker N, et al. Américo Negrette and Huntington’s disease. Arq Neuropsiquiatr. 2011;69(4):711-713.

    • Rodrigues FB, Byrne LM, Wild EJ. Biofluid biomarkers in Huntington’s Disease. Methods Mol Biol. 2018;1780:329-396.

      Rodrigues FB, Byrne LM, Wild EJ. Biofluid biomarkers in Huntington’s Disease. Methods Mol Biol. 2018;1780:329-396.

    • Yohrling G, Raimundo K, Crowell V, Lovecky D, Vetter L, Seeberger L. Prevalence of Huntington’s Disease in the US [abstract taken from HSG 2019]. Neurotherapeuticshttps://doi.org/10.1007/s13311-019-00788-3. Published October 8, 2019.

      Yohrling G, Raimundo K, Crowell V, Lovecky D, Vetter L, Seeberger L. Prevalence of Huntington’s Disease in the US [abstract taken from HSG 2019]. Neurotherapeuticshttps://doi.org/10.1007/s13311-019-00788-3. Published October 8, 2019.

    • Bates GP, Dorsey R, Gusella JF, et al. Huntington disease. Nat Rev Dis Primers. 2015;1:15005.

      Bates GP, Dorsey R, Gusella JF, et al. Huntington disease. Nat Rev Dis Primers. 2015;1:15005.

    • Anderson KE, van Duijn E, Craufurd D, et al. Clinical management of neuropsychiatric symptoms of Huntington disease: expert-based consensus guidelines on agitation, anxiety, apathy, psychosis and sleep disorders. J Huntingtons Dis. 2018;7(3):355-366.

      Anderson KE, van Duijn E, Craufurd D, et al. Clinical management of neuropsychiatric symptoms of Huntington disease: expert-based consensus guidelines on agitation, anxiety, apathy, psychosis and sleep disorders. J Huntingtons Dis. 2018;7(3):355-366.

    • Roos RAC. Huntington disease: a clinical review. Orphanet J Rare Dis. 2010;5:40. doi:10.1186/1750-1172-5-40.

      Roos RAC. Huntington disease: a clinical review. Orphanet J Rare Dis. 2010;5:40. doi:10.1186/1750-1172-5-40.

    • Frank S. Treatment of Huntington’s disease. Neurotherapeutics. 2014;11(1):153-160.

      Frank S. Treatment of Huntington’s disease. Neurotherapeutics. 2014;11(1):153-160.

    • Nance M, Paulsen JS, Rosenblatt A, Wheelock V. A Physician’s Guide to the Management of Huntington’s Disease. 3rd ed. New York, NY: Huntington's Disease Society of America; 2011.

      Nance M, Paulsen JS, Rosenblatt A, Wheelock V. A Physician’s Guide to the Management of Huntington’s Disease. 3rd ed. New York, NY: Huntington's Disease Society of America; 2011.

    • Huntington’s Disease Society of America. HDSA Family Guide Series: Physical and Occupational Therapy—Huntington’s Disease. http://hdsa.org/wp-content/uploads/2015/03/PhysicalOccupationalTherapy_FamilyGuide.pdf. Accessed May 17, 2019.

      Huntington’s Disease Society of America. HDSA Family Guide Series: Physical and Occupational Therapy—Huntington’s Disease. http://hdsa.org/wp-content/uploads/2015/03/PhysicalOccupationalTherapy_FamilyGuide.pdf. Accessed May 17, 2019.

    • Wild EJ, Boggio R, Langbehn D, et al. Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. J Clin Invest. 2015;125(5):1979-1986.

      Wild EJ, Boggio R, Langbehn D, et al. Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. J Clin Invest. 2015;125(5):1979-1986.

    • Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature. 1983;306:234-238.

      Gusella JF, Wexler NS, Conneally PM, et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature. 1983;306:234-238.

    • Kendrick LM, Hudgell D, Hellman A, Weaver MS. Attending to total pain in juvenile Huntington disease: a case report informed by narrative review of the literature. J Palliat Care. 2019. doi:10.1177/0825859719835560.

      Kendrick LM, Hudgell D, Hellman A, Weaver MS. Attending to total pain in juvenile Huntington disease: a case report informed by narrative review of the literature. J Palliat Care. 2019. doi:10.1177/0825859719835560.

    • Piira A, van Walsem MR, Mikalsen G, Nilsen KH, Knutsen S, Frich JC. Effects of a one year intensive multidisciplinary rehabilitation program for patients with Huntington’s disease: a prospective intervention study. http://currents.plos.org/hd/index.html%3Fp=7893.html. Accessed January 16, 2020.

      Piira A, van Walsem MR, Mikalsen G, Nilsen KH, Knutsen S, Frich JC. Effects of a one year intensive multidisciplinary rehabilitation program for patients with Huntington’s disease: a prospective intervention study. http://currents.plos.org/hd/index.html%3Fp=7893.html. Accessed January 16, 2020.