Understanding Huntington's Disease Causes, Symptoms and Diagnoses 1

Understanding Huntington's Disease Causes, Symptoms and Diagnoses

Hetvin Vasoya

PRN: 8023046722

Department of psychology, Maharaja Sayajirao University

Major 3: Psychology

Date: 15/04/2024
Understanding Huntington's Disease Causes, Symptoms and Diagnoses 2

When, How and What happens in Huntington's Disease?

Huntington's disease is an uncommon genetic disorder that leads to the gradual deterioration of
nerve cells in the brain. This condition significantly affects an individual's motor skills (chorea),
apathy, cognitive abilities, emotional instability like outbursts, psychosis, and mental health
decline.

The majority of people with Huntington's disease are in their 30s to 50s and stay with them till
death. If the symptoms are seen before age 20, then it's called juvenile Huntington's disease.
Statistics show that:

● An estimated 3 to 7 per 100,000 people of European ancestry (Huntington disease,

MedlinePlus).
● The occurrence is 2.7 per 100,000 individuals in the North. While in America, Europe,
and Australia, it stands at 5.7 per 100,000, exhibiting a notably reduced prevalence of
0.40 per 100,000 in Asia.

Unraveling the Rooted Causes of Huntington's Disease

Exploring underlying Biology of Huntington's Disease

The underlying hereditary cause of Huntington's disease is attributed to an autosomal

dominant gene, which is located on chromosome 4. Therefore, if a parent has this disease, there

is a 50% chance of inheriting the huntingtin gene.

The HTT mutation that leads to Huntington’s disease includes a DNA segment called a

CAG (cytosine, adenine, and guanine). In a normal gene, a CAG is repeated 10–35 times, but in

Huntington’s disease, a CAG can be repeated 36–120 times. Adult individuals with onset

Huntington’s disease usually have 40–50 CAG repeats in their HTT gene, while juveniles with

Huntington’s disease usually have over 60 CAG repeats.

Fragile X syndrome is another genetic disorder that occurs when a string repeats and the

gene lengthens. In the case of Huntington's disease, Fragile X occurs when the CGG triplet

repeats more than (over 200) in the FMR1 gene in the affected gene. There is little to no
Understanding Huntington's Disease Causes, Symptoms and Diagnoses 3

correlation between the number of base repeats above 200 and disease severity (Catherine Baker,

2004).

With each generation, the dominant allele changes slightly, and every time a gene is

passed down, a sequence of DNA within the allele repeats (stutters). When the length of the

repeated sequence exceeds a certain number of amino acids, the failure to properly sequence the

amino acids required to build a protein results in disease.

Investigating Psychological Factors

Due to the hereditary nature of Huntington's disease being passed down through

generations, getting tested to predict if you have it can cause distress. This makes it unlikely for

people to get tested, like only 3-24% worldwide. When it comes to studying premanifest people

who haven't shown symptoms yet, some studies say they adjust well after a year, but others show

they feel more regret, are pessimistic, and even have suicidal ideation (Laccone, eu, he, ww, mn,

et al., 1999).

Many experts in the field of neuropsychiatry also consider how the personal perspective

of individuals living with Huntington's disease affects their day-to-day functioning. Research

indicates that those affected often adopt a narrow viewpoint of being caged in by their own

illness. This could be attributed to the explanations provided by medical and clinical

professionals who specialize in neuropsychiatry. (Theed R, Eccles FJR, Simpson J, 2018).

Exploring Socio-Cultural causes of Huntington’s Disease

Due to limited public awareness of Huntington's disease, those affected often face

discrimination, misunderstanding, and social isolation, potentially leading to loneliness,

Understanding Huntington's Disease Causes, Symptoms and Diagnoses 4

depression, anxiety, and lost opportunities for social participation. Advocacy, support groups,

and education can increase understanding of the disease, reduce stigma, and provide critical

support networks for those impacted by Huntington’s disease.

In general, social withdrawal is linked to both the symptoms and physical signs of the disease

getting worse, and it places a heavy burden on family caregivers.

Other factors also contribute to the cause of Huntington's disease, like not getting proper therapy

and/or medication due to a financial condition, improper peer or family support, and not getting a

suitable living environment like a house and resources to cope with the disease.

Is Huntington’s Diagnosis Possible?

At present, there is no known remedy capable of stopping or reversing the advancement

of Huntington. Nonetheless, numerous treatments and approaches exist to effectively handle HD

symptoms. Professionals such as neurologists, psychiatrists, or specialized nurses may

recommend medications to alleviate anxiety and depression, address challenging behaviors, and

mitigate involuntary movements.

In the initial diagnosis of Huntington's disease, doctors rely mainly on the information

you provide in response to their questions, a thorough physical examination, a careful review of

your family's medical background, and detailed neurological and psychiatric assessments.

Neurologists will ask questions and check symptoms for motor and sensory functions, memory,

language skills, and spatial reasoning, while a psychiatrist will evaluate based on patterns of

behaviors, coping skills, and emotional state.

What are Medical interventions for Huntington’s Disease?

Understanding Huntington's Disease Causes, Symptoms and Diagnoses 5

Huntington’s disease can be evaluated with a DNA test under the care of experienced clinicians.

If there is an abnormal expansion of CAG in the htt gene, a diagnosis can be confirmed in

symptomatic individuals.

Numerous agents have been diagnosed with Huntington's disease to determine their effectiveness

in reducing chorea symptoms. These include fetal cell transplantation, benzodiazepines,

dopamine-depleting agents, anti-seizure medications, glutamate antagonists, deep brain

stimulation, acetylcholinesterase inhibitors, lithium, and dopamine agonists like neuroleptics.

(Armstrong MJ. Miyasaki JM (2012), Paleacu D. Tetrabenazine (2007), Bagchi SP. (1983)).

The American Academy of Neurology Guidelines recommend that tetrabenazine (TBZ), riluzole,

or amantadine are best for the treatment of chorea (Armstrong MJ, Miyasaki JM 2012). Mood

stabilizers like lithium and antidepressants like selective serotonin reuptake inhibitors (SSRIs)

are also effective in regulating mood and coping with irritation.

Depression, which is common in Hungtington's disease, can be diagnosed and managed with

TBZ. In a study of haloperidol on 20 adult Huntington's disease (HD) patients, when serum

haloperidol concentrations were between 2 and 5 ng/ml, choreiform movements reduced

significantly, exceeding 30% from the initial state. These concentrations equate to doses ranging

from 1.5 to 10 mg/d (Barr AN, fh, kc, sl, sa, 1988).

It is important to have a thorough discussion with the patient and their family about treatment

goals for reducing chorea symptoms, and they should be reevaluated from time to time. The

focus should be on achieving a satisfactory level of reduction rather than the complete

elimination of symptoms.

Medication to consider when diagnosing chorea:

Understanding Huntington's Disease Causes, Symptoms and Diagnoses 6

Source: ncbi

What are Therapeutic Interventions for Huntington’s Disease?

Individuals with HD frequently experience cognitive and behavioral changes before the onset of

motor dysfunction. Psychotherapy and CBT are effective in identifying mood or psychiatric

disorders that are more prevalent among those with Huntington’s disease, including obsessions,

depression, suicidal thoughts, anxiety, hallucinations, and apathy. Most psychological therapy

research has centered around the above symptoms; however, more profound and detailed

research is required in this field for intervention and treatment.

Huntington's disease can greatly impair the coordination of various muscles, including the mouth

and throat, which are crucial for swallowing, eating, and speech. The assistance of a speech

therapist can be helpful in maintaining your speech clarity and adapting to dysphagia (discomfort

in swallowing, a common symptom of Huntington).

Incorporating music therapy, exercise, dance, or video game-playing into the intervention plan

for Huntington's disease can help address a range of physical, cognitive, and emotional

symptoms associated with the condition.

Understanding Huntington's Disease Causes, Symptoms and Diagnoses 7

When compared to an inactive lifestyle, consistent physical activity and an active lifestyle are

essential for individuals with Huntington's disease or those at risk, as they result in more positive

results. Physical therapy exercises, both active and passive, play a crucial role in helping

individuals with this disease by preserving their joint flexibility, reducing the risk of postural and

musculoskeletal abnormalities, and diagnosing gait and balance disturbances.

Case Study Analysis

This case study gives in-depth details about Mr. Miller's traits, exam results, interdisciplinary

treatments, and an outcome reassessment six months after the referral of a psychologist and

pathologist. The case study offers details regarding the clinical intervention, interdisciplinary

approach to managing chorea, subjective and objective observations, and assessment after 1 year.

Symptoms based on DSM V:

Johnny Miller, age 45, learned he had Huntington's disease at an early stage. He saw his doctor

due to frequent mistakes in intricate hand movements for work, milder coordination issues like

speech production impairment, which led him to have dysarthria, and difficulty swallowing,

which is dysphagia.

The study revolves around this patient with increased fine motor errors, which lead to

bradykinesia, chorea, and coordination difficulties related to his job. Alongside physiological

symptoms, Mr. Miller also suffers from emotional and cognitive dysfunction, like occasional

absent-mindedness and forgetfulness, irritability due to improper work, and phases of anxiety

and depression. He also sometimes thinks of himself as performing suicide, especially when the

day gets worse.

Understanding Huntington's Disease Causes, Symptoms and Diagnoses 8

Client’s History

Mr. Miller does not smoke and drinks 1-2 ounces of alcohol per week. His mother committed

suicide at the young age of 35. His father, a robust 68-year-old, resides autonomously in

Montreal. Additionally, he has an older sister who, despite battling breast cancer three years ago

and undergoing a mastectomy, now lives independently in Smith Falls. Mr. Miller seemed to

have a history of gait and balance-related issues upon subjective interview.

During the appointment of Mr. Miller, the physician observed gait impairment and cognitive

abnormalities such as a short temper and unexplained outbursts, leading to the decision to refer

Mr. Miller to a neurologist for further evaluation. After being diagnosed with Huntington's

disease and referred to an outpatient rehabilitation physiotherapy clinic, Mr. Miller underwent a

comprehensive assessment to determine the most suitable treatment plan. Outcome measures

were used to assess Mr. Miller's functional capacity in various tasks at the time of admission, and

these measures were compared to data collected six months later to monitor the progression of

the disease and evaluate the effectiveness of the interventions used.

Physiological Intervention

The rehabilitation process was aimed at Mr. Miller's specific goals to ensure its relevance and

significance to him. The treatment plan included a range of interventions such as aerobic

exercise, balance and coordination training, fine motor skill training, and education on functional

tasks relevant to his condition, which was significant in managing chorea. Working with

antidepressants like selective serotonin reuptake inhibitors (SSRIs) to get a grip on suicidal

ideation, anxiety and depression and further neuroleptics can also help him manage his anger

issues.
Understanding Huntington's Disease Causes, Symptoms and Diagnoses 9

Psychological Intervention

He further diagnosed his psychological impairment with a clinical psychologist who discussed

emotional instability and cognitive dysfunction, found an acceptable solution for Mr. Miller to

cope with Huntington, and helped improve family communication and relationships.

Communication Intervention

A previous psychologist recommended consulting speech-language pathologists to get his speech

in order and help swallow food. The pathologist recommended that he eat softer food and do

regular oral exercise. Encouraging him to share his emotions through words, gestures, or other

means diagnosed in his speech regulation. Miller also got a swallowing assessment, which gave

him control over swallowing muscles, reducing dysphagia.

Social workers, psychologists, and speech therapists played a role in providing support and

treatment as part of the therapeutic team. The six-month re-evaluation of Mr. Miller's progress

showed that his performance levels remained stable compared to his initial assessment, as

measured by the selected functional outcome measures.

Conclusion

Additionally, psychologists or social workers can deliver individual or group therapy

sessions. Physical and occupational therapists can collaborate with patients and their families to

enhance physical strength, ensure safe mobility, and adapt the living environment and daily

routines as necessary. Speech therapists and dietitians can assist with communication, ensure safe
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eating and swallowing practices, and address issues related to weight loss. Lastly, healthcare

providers engaged in research may propose involvement in clinical trials focused on HD.

References

Medlineplus: Huntington's disease, frequency, last updated July 1, 2020

Catherine Baker (2004): Behavioral Genetics, How do mental disorders emerge from the

mix of genes and environment?

Weigell-Weber M, Marczinek K, Nolte D, Laccone F, Engel U et al., Holinski-Feder E

(1999): DNA analysis of Huntington’s disease. Neurology.

Theed R, Eccles FJR, and Simpson J. (2018): Understanding psychological difficulties in

people with the Huntington’s disease gene and their expectations of psychological therapy.

Psychol Psychother.

Armstrong MJ, Miyasaki JM (2012). Evidence-based guideline: pharmacologic treatment

of chorea in Huntington's disease: report of the guideline development subcommittee of the

American Academy of Neurology. Neurology. PubMed.

Paleacu D. Tetrabenazine (2007): Neuropsychiatr Dis Treat. Neurology. PubMed.

Bagchi SP. (1983): Biochem Pharmacol.

Barr AN, Fischer JH, Koller WC, Spunt AL, Singhal A (1988): Serum haloperidol

concentration and choreiform movements in Huntington’s disease. Neurology.