Karla Javillo, Pearl Ong, Phoebe Hubilla

8B

Huntington’s disease

Huntington disease is a genetic disorder. It is also a brain disorder that is caused by a defective
gene. The disease causes changes in the central area of ones’ brain. Huntington’s disease
goes by the abbreviation “HD”. Huntington’s disease is also known as Huntington's chorea. HD
has a broad impact on one’s functional abilities. Such disorder spawns undisciplined
movements, a damaged ability to think and emotional problems. Gradually, the damage of brain
cells can affect one who holds HD by their behavior, movement and thinking. This also includes
judgement, their perceptions and awareness. HD is an inherited disease and can have a
debilitating effect on a persons’ life by taking their brain functions to something a far from
normality.
Huntington’s disease was first identified as an inherited disorder in 1872. It was named after
George Huntington, an American physician in 1993. George Huntington wrote about an illness
that he called "an heirloom from generations away back in the dim past." He was not the first to
describe the disorder, which has been traced back during the Middle Age. The discovery of the
gene in 1993 was a step up for HD’s history. The science community or a group of researchers
were able to find a gene and the process was a tough grind and exhausting, requiring great
observation and countless time of research. And as the result of this great discovery and
accomplishment, it is now possible to diagnose HD with blood or tissue samples.

Huntington disease is less common to Japanese, Chinese and to an African descent, but it is
quite common within an European ancestry. It is estimated that 3 to 7 per 100,000 people of
European ancestry is affected with Huntington disease. But still, HD occurs in all races.
There are two forms of Huntington’s Disease. We have Adult-onset Huntington disease and
Early-onset Huntington disease. Adult-onset Huntington disease is the most common. People
develop the symptom in their mid-30s and 40s. Affected individuals may have trouble with their
gait, speaking and even swallowing. Individuals with the adult-onset form of Huntington disease
usually live about 15 to 20 years after signs and symptoms start to appear. Early-onset
Huntington disease is quite rare. Children or adolescents would develop this disease throughout
the rest of their lives. Children who accumulate it early would most likely experience difficulties
with school work and often have symptoms that are somewhat similar to Parkinson disease.
Seizures occur in 30 percent to 50 percent of children with this condition. Early-onset
Huntington disease is most likely to progress quicker than the adult-onset form. Affected
individuals live to 10 to 15 years after signs and symptoms are visible.
The HD gene is dominant, which means that each child with a parent with HD has a 50%
chance of inheriting the disease. Males and Females have an equal percent of the risk of
inheriting the disease.

You only need to inherit one copy of the faulty allele to

have Huntington’s disorder, unlike cystic fibrosis, where
you need to inherit both copies. You can inherit
Huntington’s disorder if one or both of your parents
carry the faulty allele, because it is a dominant allele. In
this example (represented on a Punnett square), one
parent - the mother - carries one copy of the
Huntington’s allele and has the disorder. The father
does not carry the Huntington’s allele, so he does not
have the disorder. There is a 1 in 2 or 50 per cent
chance of the couple producing a child with the
disorder.

Huntington’s disease may bring various spectrums of signs and symptoms. The symptoms that
come with the disease greatly affects the individuals all in all being. Symptoms of Huntington’s
disease usually develop between the ages 30 and 50. But they can also appear as early as the
age of 2 or as late as 80. The start and progression of Huntington’s disease in younger people
may be slightly different from adults. People who hold HD may include movement disorders,
cognitive and psychiatric disorders. Symptoms may vary from an individuals’ age.
Symptoms for Adult-onstage Huntington disease may progress symptoms to stages. In earlier
stages we can see symptoms such as clumsiness, moodiness, irritability, paranoia, anxiety,
hallucinations, abnormal eye movements and depression. During the middle stage we can
notice involuntary movements, trouble with balance and walking, weight loss, speech difficulties,
stubbornness, slow reaction time and general weakness. While on later stages, we may notice
continual tension of the muscles, serious weight loss, inability to speak, swallowing problems
and the inability to care for oneself.
Symptoms for Early-onset Huntington disease may include behavioral changes such as loss of
previously learned academic or physical skills, a significant drop in overall school performance.
The may acquire physical changes as well such as contracted and rigid muscles that affect the
manner of walking, changes in fine motor skills that might be noticeable in handwriting, tremors
and seizures.

The person who holds HD would most likely not be the first ones to find out what he or she has.
It would be observed by families or even friends. The people who surround you or within your
environment are the first ones to notice your differences. No one can really tell and observe
themselves properly. It comes with other peoples’ thoughts and opinions. But in case, go see
your doctor if you notice changes in your movements, emotional state or mental ability. The
signs and symptoms of Huntington's disease can be caused by a number of different conditions.

The huntingtin gene defect involves extra

repeats of one specific chemical code in one
small section of chromosome 4. The normal
huntingtin gene includes 17 to 20 repetitions
of this code among its total of more than
3,100 codes. The defect that causes
Huntington's disease includes 40 or more
repeats. Genetic tests for Huntington's
disease measure the number of repeats
present in an individual's huntingtin protein
gene.

After the start of Huntington's disease, a person's functional abilities slowly worsen over time.
The life expectancy to individuals who suffer from HD is about 10 to 30 years. Juvenile
Huntington's disease or Early-onset Huntington disease life expectancy is within 10 years after
symptoms develop.
Eventually, a person with HD needs help with all daily living activities and most importantly care
from people around him or her. In later stages of the disease, he or she will likely be confined to
a bed and unable to speak. However, he or she is generally able hear and has awareness of
family and friends.
Common causes of death include pneumonia and other infections and complications related to
the inability to swallow.
People with a family history of Huntington's disease should consider genetic testing and family
planning options.
It would be advisable to meet with a genetic counselor. A genetic counselor will discuss the
potential risks of a positive test result, which would indicate the parent will develop the disease.

Sadly, there is currently no cure of HD. There is no way to slow down the process or stop the
changes in the brain. But medications can lessen some symptoms of movement and psychiatric
disorders. And through hard work and process, a person can help adapt to changes in his or her
abilities for a certain amount of time.
Medication management would most likely evolve the course of the disease, depending on the
overall treatment goal of the person. The treatment goals and plan will be reviewed regularly
and updated as well.
There are medications for movement disorders and psychiatric disorders. You may also
consider psychotherapy, speech therapy, physical therapy and occupational therapy.
Medications for movement disorders may have the usage of drugs such as Tetrabenazine,
Antipsychotic drugs and other medications. Tetrabenazine treats involuntary jerking and writing
abilities. A serious side effect of intaking this may be the risk of worsening or triggering
depression. Antipsychotic drugs such as haloperidol and chlorpromazine may be beneficial in
treating chorea. But, these drugs may worsen involuntary contractions. Medications for
psychiatric disorders are Antidepressants, antipsychotic drugs and mood-stabilizing drugs.
Antidepressants may also have some effect on treating OCD. Antipsychotic drugs may help with
lessening violent outburst and mood disorders. Psychotherapy can provide a conversation to
help a person manage behavior, development of coping strategies and develop a proper
communication with family members. Speech therapy would help with the control of muscles in
the mouth and throat, eating and swallowing. A speech therapist would help the person with the
ability to speak clearly as well. Physical therapy would help instruct the patient with instructions
for a proper posture and would address and help lessen movement problems.
SOURCES:

https://rarediseases.info.nih.gov/diseases/6677/huntington-disease
https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-
20356117
http://hdsa.org/what-is-hd/
https://ghr.nlm.nih.gov/condition/huntington-disease
https://www.alz.org/dementia/huntingtons-disease-symptoms.asp
http://jnnp.bmj.com/content/66/1/52
https://www.thesun.co.uk/news/5113693/huntingtons-disease-symptoms-life-expectancy-
inherited-treatment/
https://www.lifespan.org/conditions-treatments/huntington-disease
https://www.hopkinsmedicine.org/psychiatry/specialty_areas/huntingtons_disease/patient_family
_resources/education_whatis.html
http://www.bbc.co.uk/schools/gcsebitesize/science/21c/genes/genetic_diseasesrev3.shtml
https://www.huntingtonsnsw.org.au/information/hd-facts/history