Huntington's Disease

Huntington's disease usually causes movement, cognitive, and psychiatric symptoms. The type of symptom and the severity will vary with the progression of the disease and not everyone will have the same symptoms. Some of the more common symptoms associated with Huntington disease are:

Huntington's disease usually causes movement, cognitive, and psychiatric symptoms. The type of symptom and the severity will vary with the progression of the disease and not everyone will have the same symptoms. Some of the more common symptoms associated with Huntington disease are:

Changes in mobility:

• Involuntary excessive writhing or jerky movement, known as chorea
• Abnormal contraction of the muscles causing odd postures, known as dystonia
• Impaired balance, causing falls
• Changes in speech and swallowing

Changes in cognition:

• Slowness in thinking
• Difficulty organizing tasks or thoughts
• Problems finding words
• Misjudging distances

Psychiatric changes

• Feeling too sad or worried
• Difficulty falling asleep or staying asleep
• Being impulsive and showing inappropriate behaviors
• Social withdrawal

A preliminary diagnosis of Huntington's disease is done by a neurologist based on the history of symptoms, physical examination, cognitive and psychiatric evaluation as well as imaging. The family history of neurologic conditions is very important as Huntington's disease runs in families. If after this evaluation the neurologist has a suspicion for Huntington's disease, genetic counseling and testing may be recommended. The genetic testing will tell you if there is an abnormal expansion in the gene that causes Huntington's disease. It will not tell you what symptoms you will have or when will they appear.

I have a family history of Huntington's disease, but I do not have any symptoms, should I be evaluated?

If you have a family history of Huntington's disease and you do not have symptoms there are certain situations in which you may want to consider being evaluated. One of these is if you are considering having children. When you carry the Huntington's disease gene your potential child has a 50% chance of having it. Currently, if you know you are a carrier some methods allow you to have children and make sure they do not carry a gene that causes Huntington's disease. Other situations include when the uncertainty of whether you carry the Huntington's disease gene or not creates a high level of stress or when affects the ability to plan for the future. Independent of the situation driving the interest in knowing if one is a carrier or not, we strongly suggest having genetic counseling before considering the test. We do not recommend testing in people younger than 18 if they do not have symptoms.

Huntington’s disease treatments can be either symptomatic or disease-modifying. The first one addresses the symptoms without affecting the process that is causing them while the second one affects the progression of the disease, either by slowing it down, stopping, or reversing it. Currently, we only have treatments for the symptoms of Huntington's disease, such as depression, anxiety, or excessive movements amongst others. These include medications and therapies. The treatment will be tailored depending on the symptoms you have and how they interfere with your life. Unfortunately, we do not have a cure for Huntington's disease yet.