A guide to getting tested for Huntington’s disease

Motor problems such as involuntary jerks and reflexes, sensory problems such as vision and eye problems, and psychiatric symptoms such as poor mood and mental status define Huntington’s disease. There is not much that doctors can do to treat this disease. In fact, Huntington’s disease is an incurable disease. Yet, diagnosis is important even for symptomatic treatment. You have to undergo genetic testing in order to confirm the diagnosis. Yet, genetic testing is not the first step. In fact, there are several tests that doctors conduct before taking a final call on genetic testing.

At the first point of testing, what will the neurologist evaluate one for?

• The neurologist will evaluate a patient for parameters like muscle strength, reflexes, coordination, balance, etc.
• People suffering from Huntington’s disease do suffer from various motor problems such as involuntary movements of limbs, changes in coordination, fidgeting, twitching, restlessness, and so on.
• The doctor will also evaluate for sensory symptoms such as vision and eye movement, hearing problems, sense of touch, and such.

Where will one be referred to from here?

• Most probably, the neurologist will refer one to a psychiatrist. People suffering from Huntington’s disease do have psychiatric dimensions too.
• Such people may suffer from a disorder of memory, thought, and perception, so a psychiatric evaluation for mood, mental status, memory, lingual problem, spatial reasoning, mental agility, pattern of behaviour, and such is a must.
• The doctor would look for quality of judgement, signs of thinking disorder, quality of judgement, etc.

Does one need any other test to confirm the disease?

• Diagnosing Huntington’s disease is a long process. After the neurological and psychological evaluations are over, the neurologist may suggest one to take a brain imaging test. This is done to assess the condition of the brain.
• In people suffering from this disease, two areas of the brain are affected. The first one is the cortex, which is responsible for memory, perception, and thought, and the second is the basal ganglia, which is responsible for coordinating various movements. Patterns of abnormal imaging are discernible to doctors.

Can the doctor predict the disease?

• Yes, if one has a family history of Huntington’s disease, the doctor may go for a predictive genetic test.
• If one has a family history of this disease but not any symptom, the doctor may ask them to agree to a predictive gene testing.
• However, the test cannot say when the disease will start manifesting, and neither can it make any difference to the treatment outcome.
• However, some people do agree to get the test done, since they feel that the stress of not knowing the outcome is too much to bear.
• If one is wondering where to get tested for Huntington’s disease through genetic testing, one can ask their doctor to refer them to a capable treatment center. There are not many places where such genetic testing is done.

What are the prerequisites of genetic testing for Huntington’s disease?

• The genetic test is a confirmatory test for Huntington’s disease.
• The centers that test for this disease must also be equipped to counsel the patient regarding the outcome of the test and the treatment options.
• If you’re wondering where to get tested for Huntington’s’ disease, it just can’t be anywhere.
• It must have the proper infrastructure, including psychologists to render proper counseling.

What about prenatal and predictive diagnosis for Huntington’s disease?

• Many parents prefer to opt for a prenatal genetic test to determine whether the fetus has any risk of developing the disease later.
• Many people choose predictive testing to decide their future actions regarding career, marriage, etc.
• For those wondering where to get tested for Huntington’s’ disease, there are some designated predictive analysis centers around the country. Physicians are encouraged by the Huntington’s Disease Society Of America to refer only appropriate patients to the designated centers.
• Couples considering prenatal testing need to go through genetic counseling before becoming pregnant. You will then be referred to the right center once this has been completed.

How is prenatal testing done?

Prenatal testing can be conducted in two ways:

• • It can be done by chorionic villus biopsy at 10-11 weeks of gestational age. In case of chorionic villus biopsy, a sample of placental tissue is carved out for biopsy.
  • It can also be done by amniocentesis. In case of amniocentesis, amniotic fluid is taken by puncturing the amniotic sac.