Huntington's Disease: Diagnosis and Treatment

Huntington’s disease (HD) is a genetic disorder that typically leads to involuntary writhing movements (chorea), as well as cognitive and psychiatric decline. 

Should You Get Genetic Testing? 

Because Huntington’s disease is caused by a mutation, genetic testing is highly sensitive and specific in diagnosing the disease.  However, genetic testing has important implications not only for the patient, but for even seemingly unaffected family members.

It is critical that these risks be discussed with a knowledgeable advisor such as a genetic counselor before moving forward with testing. 

There are some disorders that can mimic the appearance of Huntington’s, including the inheritance pattern.  Examples include mutations in the C9ORF72 gene, Huntington disease-like syndrome 2, spinocerebellar ataxia type 17, prion diseases, Friedrich ataxia and dentatorubral pallidoluysian atrophy (DRPLA).  The chorea so suggestive of Huntington’s disease can also result as a side effect from certain drugs, or as a result of streptococcal infection during childhood.  Of course, is the HD gene is positive, the likelihood of additionally having any of these disorders would be very low—they must be considered, however, if the test is negative. 

Although clinical trials are ongoing, at the time of this writing there is no cure for Huntington’s disease.  Treatments instead target the symptoms in hopes of offering some relief as the disease progresses.

 As the disease evolves, so will the symptoms, and so any treatment may need to be reconsidered.  


Before treating chorea, it is important to see if the patient is bothered by the abnormal movements.  Often, those with Huntington's disease do not even notice the writhing motion, and it would be unfair to give them a medication to make those around them more comfortable, rather than the patient his or herself.

 If treatment is bothersome, medications such as tetrabenazine may be helpful.  Tetrabenazine blocks dopamine transport, and has been shown to be helpful in reducing chorea, but has side effects such as parkinsonism, sedation and depressed mood. 

Neuroleptics such as haloperidol may be helpful.  However, these can also worsen parkinsonism and sedation.  Some evidence also exists for amantadine, though this is less certain.

Psychiatric Symptoms

For people with HD who are experiencing high degrees of agitation or even psychosis, the first step is controlling the environment.  Making sure that surroundings are predictable and calm can be helpful.  Should this be insufficient, antipsychotics such as haloperidol may be useful.  Newer neuroleptics such as olanzapine or risperidone may have fewer side effects. 

Depression is very common among those with Huntington's disease.  Tricyclic antidepressants or selective serotonin reuptake inhibitors can be helpful.  

Cognitive Symptoms

No treatment has been shown to benefit the dementia of Huntington's disease.

Small investigations into possible use of medications often used in Alzheimer's have not shown any benefit. 

Investigative Therapies

The best reason to participate in a clinical trial is to hopefully help people down the road.  If scientists knew that the medication they were giving would be helpful, there wouldn't be a need for a trial.  That said, early results investigating pridopidine as well as highly unsaturated fatty acid (HUFA)appear to merit further investigation.  Large trials of creatine, coenzyme Q10, and minocycline have not been shown to be effective. Surgical trials, including fetal transplantation and use of neurotrophic factors, have not been shown to be beneficial, and may have higher risk for patients.


Oksana Suchowersky: Huntington disease: Management.  From UpToDate. accessed August 2015. 

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