Huntington’s disease is a chronic, genetic, progressive, neurodegenerative disorder characterized by involuntary muscle movements, deterioration of cognitive processes and memory (dementia).
It is caused by degeneration of the cerebral cortex and basal ganglia.
To get started, you’ll need to read: How Do You Get Dementia?
Table of Contents
Causes of huntington's disease
- Caused by a single defective gene on chromosome 4. This leads to nerve cell damage in the brain’s areas, including the basal ganglia and cerebral cortex.
- This leads to the gradual onset of physical, mental, and emotional changes.
- Transmitted as an autosomal dominant genetic disorder.
- Mainly occur between 25 to 55 years
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Signs and symptoms of huntington's disease
Early symptoms:
- Mild tremor
- Clumsiness
- Lack of concentration
- Irritability
- Short term memory problem
- Mood changes
- Depression
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Late symptoms fall into three categories
1.Movement problems
- Slow or abnormal eye movements
- Impaired gait, posture, and balance
- Involuntary jerking or writhing movements (chorea)
- Difficulty in speech or swallowing
- Muscle problems, muscle contracture, and rigidity
2.Cognitive problems
- Difficulty organizing or focusing on tasks
- Lack of flexibility on thought, behavior, or action
- Slowness in processing thoughts or ”finding” words
- Difficulty in learning new information
- Lack of impulse control
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3.Psychiatric or mental problems
The signs and symptoms include
- Feelings of irritability, sadness, or apathy
- Social withdrawal
- Insomnia
- Fatigue and loss of energy
- Frequent thoughts of death, dying, or suicide
- Loss of memory
- Personality changes
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How is huntington's disease inherited?
Huntington’s disorder is an inherited neurodegenerative disorder in which brain cells are damaged and die over time, beginning to progressive loss of mental and physical abilities.
Inheritance is also known as autosomal domaint. A person has pair of the gene, but one abnormal copy is enough to cause the disease. Children of an affected parent have a 45 to 50% chance of inheriting the gene’s abnormal copy, hence the disease.
Huntington's disease life expectancy
Life expectancy is generally around 10 to 20 years of visible symptoms. Most life-threatening complications result from muscle coordination with pulmonary aspiration, increasing pneumonia, being the most common cause of death in patients.
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Diagnosis of huntington's ddisaeae
- Neurological examination
- CT SCAN and MRI
- EEG
- PET SCAN
- Genetic counseling and testing
Management of huntingtion's disease
- Initially, the treatment process starts with tests like brain imaging and computerized tomography (CT) scans. It helps us provide detailed pictures of brain structures and show which parts of the brain are affected by the disease. The test is also used to rule out other conditions that are associated with you.
- One of the most critical procedures in the treatment of Huntington’s disease is genetic counseling.
- There is a fifty-fifty chance to improve the condition with medicines as there are common side effects that may make the patient more suicidal.
- Some medicines are used to suppress the involuntary movements that you experience and help improve your cognitive powers and help you have control over your body.
- There is no cure treatment focused on minimizing symptoms.
- Antipsychotic drugs, such as haloperidol (Haldol) and chlorpromazine, have side effects of suppressing movements.
- Antidepressant for emotional disturbances
- Anti parkinsonism such as levodopa for muscle movement.
- Diazepam for anxiety and mood swings
- mood-stabilizing drug.
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Rehabilitation
- Psychotherapy
- Speech therapy
- Physical therapy
- Occupational therapy
I have already covered some therapy in depth:
Conclusion
Huntington’s disorder is an incurable and fatal neurodegenerative disorder characterized by movement problems and various other symptoms. Intelligent scientists work around the clock to develop treatments for the cure of disorder.
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