Huntington's Disease

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affected individuals are usually able to perform most of their ordinary activities and to continue work (Warby SC, Graham RK, Hayden MR. 1998).

5. How is the disorder detected or diagnosed?

With HD being a genetic disorder, it is able to do genetic testing of HTT gene on chromosome 4 for the CAG repeat length. The age of onset cannot be predicted for the CAG repeat length in clinical practice. However, the number of repeats inversely correlates with the age of onset (Roze E, Cahill E, Martin E et al. 2011). For individuals who are portraying the symptoms and unaware that this mutated gene is present in the family there are evaluations that can be completed to help detect. There is an assessment of motor, cognitive, and psychiatric symptoms, the Unified Huntington’s Disease Rating Scale, which provides a reliable assessment to diagnose and track the progression of HD.

6. How is the disorder treated?

There are numerous pharmacological treatments available for each of the multiple systems of Huntington’s. Many are for the aide in minimizing the uncontrollable movements such as Haldol, Zyprexa, and benzodiazepines. Anti-parkinsonian agents are available to help with the loss of muscle movements and rigidity, but the side effect of using them may increase the chorea. Also there are psychotropic drugs to aid in the depression, irritability, delusions, etc. The downfall to pharmacological treatment is that some of the side effects are more detrimental to the patient than the benefits and worsen the symptoms. For example, medications typically used in HD may cause depression, sedation, nausea, restlessness, headache, neutropenia, and tardive dyskinesia (Warby SC, Graham RK, Hayden MR 1998)

7. What type of current research is being conducted on Huntington’s disease?

There are a wide range of potential therapeutic alternatives currently being studied regarding HD. There are experimental drugs and compounds being tested to help minimize symptoms and/or slow down the progression. One current medication that is currently being tested for HD symptoms is laquinimod. Laquinimod is an investigational drug being studied to see if it may have an effect on the symptoms of HD, including abnormal movements, memory problems, and emotional disorders (Legato-HD 2014). Laquinimod has already been studied on the effects it has for multiple scoliosis (MS) and is believed it may aide in HD. Several gene silencing therapies are being developed, including approaches using RNA interference, some aim to silence all huntingtin expression (Warby SC, Graham RK, Hayden MR 1998).

8. Sources

Kelley E. 2002 February. Modern drug discoveries. Huntington’s disease [Internet]. [cited 2015 April 22]; 05 (02): 56. Available from: ACS Publications

Legato-HD [Internet]. 2014. Huntington study group: The Laquinimod HD study; [cited 2015 April 22]. Available from: http://www.huntington-study-group.org/CurrentClinicalTrials/LEGATOHD/tabid/317/Default.aspx

Quarrel O. 2008. Huntington’s Disease [Internet]. Ipswich(MA):Oxford University Press; [cited 2015 April 23] Available from: eBook Academic Collection (EBSCOhost)

Roze E, Cahill E, Martin E et al. 2011. Huntington’s Disease and Striatal Signaling. Frontiers in Neuroanatomy [Internet]. [cited 2015 April 23] 05 (55). Available from: http://www.frontiersin.org/

Warby SC, Graham RK, Hayden MR. 1998. Huntington Disease. GeneReviews [Internet]. [2014 Dec 11, cited 2015 April 23] Available from: http://www.ncbi.nlm.nih.gov/books/NBK1305/

What is HD? [Internet]. 2015. New York (NY): Huntington’s Disease Society of America; [cited 2015 April 22]. Available from: http://hdsa.org/what-is-hd/