HUNTINGTON’S DISEASE INFORMATION SHEET p.

Nancy Wexler carrying a juvenile

HD patient studies about on how
to delay the age of onset of HD

George
Huntington,
first
described HD
in 1872 and
called it as
“chorea”
Cindy before and after the diagnose of
Huntington’s Disease

WHAT IS HUNTINGTON’S DISEASE?

Huntington’s Disease (HD) is a neurological disorder caused by a mutation in

chromosome #4 leading to the gradual loss of control in movement, thinking and
behaviour. Symptoms usually appear at ages between 30 and 50 (but there some cases of
juvenile HD).

Only those people with family history of this disease can receive the genes for HD and
this disease does not escape a generation. The approximate ratio of chance to have HD is
1:10,000 population.

GENETICS OF HD

Chromosome #4 have a trinucleotide CAG which normally repeats 35 times (or fewer)
however when this repetition is more than 40 times (36 to 120 times), it leads to a total HD. If
the repetition is between 35 to 40 times, the chances to have the disease is 50-50.

As the number of repeats increases, the age of

start of HD decreases.

The mode of inheritance is autosomal dominant,

one copy of defective genes are being passed from
parent to child in every generation.

WHAT ARE THE SYMPTOMS OF HD?

There are 3 stages of HD: early, middle and late. The late stage of HD has the worst
symptoms observed.

The behavior symptoms may be observed first before movements and then cognition:

 Behavior: personality changes, mood swings, paranoia, hallucinations, massive

anxiety, hypersexuality, delusion, depression
 Motor Control: unsteady walk, involuntary movements, repetitive fine finger
movement, facial chorea, abnormal eye movements
 Thinking: dementia, loss of judgement, speech abnormalities, difficulty in
remembering

Juvenile HD symptoms are observed before the age 20 and has the same signs with the
usual adult HD. There is also an occurrence of seizure, as one of the symptoms.

Overall, the HD leads to weight loss complications which worsen the above symptoms.
HUNTINGTON’S DISEASE INFORMATION SHEET p.2

TESTING FOR HD

There certain tests following the protocols implemented are performed in order to
confirm OR predict the diagnosis of HD.

 Pre-counselling: informing the patient about HD, the decision to continue the test is
mainly personal
 Neurological examination: when symptoms are not physically and clearly observed, if
it is positive then proceed to the next test
 Psychological or Psychiatric Evaluation: this test is performed carefully to not bring
panic to the patient
 Post Counselling: some patients who receive positive result commit suicide,
counselling after the tests would help the patient to accept life

CARE AND TREATMENT

Medication trials are to be performed in hospitals so that after follow-up observations,

right formulation of medication will be given in order to minimize the side effects.
Pharmacotherapy and complex behaviour modification plan are to be done in order to
help the patient control their movements and thinking before it gets worse.

HD cannot be prevented since it is already in the genes, however researches are still
continuing for the possibility of gene therapy of this disease.

SOURCES:
 Huntington’s Disease Society of America http://www.hdsa.org
 National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/
 America Speech-Hearing Association http://www.asha.org
 Huntington’s Outreach Project for Education in Stanford http://hopes.stanford.edu
 MedlinePlus http://www.nlm.nih.gov/medlineplus
 American Journal of Psychiatry http://ajp.psychiatryonline.org
 Dolan DNA Learning Center http://www.dnalc.org
 http://www.uvm.edu
 http://fds.oup.com Jerby Anne M. Basilio BSB 2009-44771