What is Huntington’s Disease? Symptoms, Causes, And Its Treatment

Huntington’s Disease is an inherited disease that is rare but causes progressive degeneration of the nerve cells present in the brain.

The Disease has a broad impact on someone’s functional abilities and generally results in cognitive, psychiatric, and movement disorders. The symptoms of the health disease can develop at any time, but they often appear when a person is in their 30s or 40s. However, if the health condition appears before the age of 20, then the health condition is known as Juvenile Huntington’s Disease. And when the health condition develops early, the symptoms experienced are different, and the health condition may progress faster than expected. Though the medications can help manage the symptoms, the treatments cannot prevent the mental, behavourial and physical decline associated with the health condition.

Symptoms of Huntington’s Disease

The Disease generally causes cognitive, psychiatric, and movement disorders with a wide array of symptoms. The symptoms vary from person to person, and the most common symptoms of the health condition include: Movement Disorders The movement disorder includes both impairments involuntary movements, and involuntary movement issues include:

• Muscle issues
• Writhing movements or involuntary jerking
• Impaired gait, balance, and posture
• Abnormal eye movements
• Difficulty with swallowing or speech

Cognitive Disorders The cognitive disorders associated with the Disease include:

• Difficulty prioritizing, organizing, or focusing on tasks
• Lack of impulse control resulting in outbursts, sexual promiscuity, and acting without thinking.
• Difficulty in learning new information
• Lack of flexibility
• Tendency to get stuck on an action, thought, or behaviour
• Lack of awareness of one’s own abilities and behaviours
• Slowness in finding words or processing thoughts

Psychiatric Disorders One of the most common symptoms associated with the psychiatric disorder is depression. The other psychiatric symptoms may include:

• Social withdrawal
• Feelings of sadness, irritability, or apathy
• Frequent thoughts of suicide
• Fatigue or energy loss
• Insomnia

Other common psychiatric disorders include

• Bipolar disorder
• Obsessive-compulsive disorder
• Mania

Juvenile Huntington’s Disease Symptoms

The beginning and disease progression in the younger ones can be slightly different from adults. The issues or signs and symptoms include Physical Changes

• Tremors or slight involuntary movements
• Seizures
• Contracted and rigid muscles affecting gait
• Frequent clumsiness or falls

Behavioural changes

• A rapid or significant drop in students overall school performance
• Difficulty paying attention

Causes of Disease

A parent with a defective copy could pass along the gene’s defective copy or the healthy copy. Therefore, each child in the family has a 50% chance of inheriting the gene, which causes the genetic disorder.

When to see a doctor?

You gotta see a doctor immediately if you notice any movement changes or changes in mental ability and emotional state. Complications involved! After the Disease starts, a person’s functional abilities gradually worsen over time. The disease progression and duration vary. The time from the emergence of Disease to death is generally about 10 to 30 years, and when it comes to Juvenile Huntington’s Disease, it is about ten years after the symptoms develop. The clinical depression linked with the Disease may augment the suicide risk. Eventually, a person with the Disease needs help with all the daily activities. Some common causes of death associated with the Disease include

• Injuries related to falls
• Pneumonia or other infections
• Complications associated with the inability to swallow

Prevention from Disease

People with a family history of the Disease are generally concerned about it and whether they may pass their disease gene to their children also. Such people may consider genetic testing, and the at-risk parents considering this testing must meet with a genetic counsellor. A genetic counsellor will suggest the potential risks. Also, another option for the parents is to remove the Vitro fertilization and preimplantation genetics where the eggs are removed from the ovaries and further fertilized with fathers’ sperm.

Diagnosis of the Disease

Huntington’s Disease’s primary diagnosis is based on the doctors’ questions, the family’s medical history review, a general physical examination, and psychiatric and neurological examinations. Neuropsychological testing The neurologist can perform several standardized tests to verify your

• Reasoning
• Memory
• Spatial Reasoning
• Mental agility
• Language skills

Neurological Examination

The neurologist may ask simple tests of your

• Sensory symptoms
• Motor symptoms
• Psychiatric symptoms

Psychiatric evaluation The number of factors that can contribute to the diagnosis of the Disease includes

• Coping skills
• Behaviour patterns
• Emotional state
• Judgment quality
• Evidence of substance abuse
• Disordered thinking signs

Brain function and imaging

The brain function and imaging tests include CT scans or MRI tests to check the detailed images of the brain.

Genetic testing and counselling

If the symptoms suggest the disease, the doctors may recommend genetic testing for the defective genes. The test can perform the diagnosis and may help identify the health condition early.

Predictive genetic test

Predictive genetic testing can be performed if a person already has a family history of the disease but does not experience any symptoms. The tests are only to be performed after a genetic counsellor’s consultation.

Treatment of the Disease

As the disease is genetic, no treatments can alter the course, but taking the medications in the early stages can lessen some symptoms and psychiatric disorders associated with the disease. The health conditions treatments involve medications for movement disorders, psychiatric disorders, or other symptoms. Based on the symptoms, tests and medications are recommended. Psychotherapy, speech therapy, occupational and physical therapies are also a part of the treatments for the Disease. But the treatment completely depends on the symptoms a person is experiencing. Also, nutrition and eating can help manage health conditions. You gotta be careful about that to lead a healthy life.

Bottom Line!

Huntington’s Disease is a progressive brain disorder, which causes emotional issues, uncontrolled movements, and thinking ability loss. If you have a family history of the Disease or you think that you are experiencing some of the symptoms mentioned above, the chances are that you gotta see your doctor.