Introduction:
Huntington’s disease is a rare and inherited disease of the nervous system that is characterized by progressive damage to the nerve cells present in the brain. Although this disease can affect people of any age group, it is commonly seen in people between the age group of 30 and 50. In some individuals, this disorder appears before the age of 20 and is known as juvenile Huntington's disease. Huntington’s disease causes uncontrollable movements of body parts, especially hands, face, and feet. Severe behavioral changes are also observed in patients affected with Huntington's disease.
What Is Huntington’s Disease?
Huntington’s disease is a disorder of the brain that is acquired through heredity and progresses with time by damaging the nerve cells present in the brain. This disease is characterized by uncontrollable body movements, memory problems, and behavioral defects. The uncontrollable and repeated body movements are mostly limited to the face, hands, and feet.
What Is Huntington’s Chorea?
Chorea is one of the most common symptoms experienced by patients with Huntington's disease. Chorea is a condition of the nervous system that involves involuntary, repeated, and uninterrupted movements of the body when a person is not sleeping. Abnormal movements can occur in any part of the body and are mostly seen in the face, hands, and feet. The purposeless body movements experienced by the patient can be either constant and rhythmic or abnormal. Dr.George Huntington was the first to discover this disease in 1800. Since this disease had chorea as the most common and prominent symptom, it was known as Huntington's chorea. However, later when few people developed this condition without experiencing chorea as the symptom, this disease was also known as Huntington's disease.
What Are the Causes of Huntington’s Chorea?
Huntington’s chorea is an inherited disease which means it is caused due to a faulty gene that is acquired from any one of the parents. Normally every person receives two copies of all genes (one copy from each parent). So, if the parent with this disorder passes on the faulty gene, the person will develop Huntington's chorea. If a healthy gene is passed on by the affected parent, then the person will not have this disorder. The huntingtin gene (HTT) tells the body to produce a protein called huntingtin protein. When the person acquires the faulty HTT gene, it produces an abnormally long huntingtin protein that is responsible for this disorder.
What Are the Symptoms of Huntington’s Chorea?
The symptoms experienced by the patients affected by Huntington’s chorea are as follows:
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Uncontrollable twitching or jerking movements (chorea).
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Abnormal walking style.
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Difficulty in maintaining balance and lack of coordination.
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Difficulty in chewing and swallowing food.
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Slow and unclear speech.
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Changes in emotions that may reflect irritation, depression, and mood swings.
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Poor memory power.
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Reduced ability to focus or pay attention while doing a task.
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Reduced organizational skills and multitasking abilities.
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Abnormal movements of the eye.
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Unawareness of one’s own behavior and actions.
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Difficulty grasping or learning new information.
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Withdrawal from social gatherings.
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Inability to sleep.
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Severe weight loss and getting tired easily.
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Sudden episodes of hyperactivity and elevated moods.
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Aggression, anger, and stubbornness.
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Clumsiness that may lead to frequent falls.
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Frequent thoughts about death and committing suicide.
How to Diagnose Huntington’s Chorea?
A combination of various tests helps to diagnose Huntington's chorea. They are as follows:
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Medical History:
The doctor makes a detailed enquiry about sleeping problems, emotional problems like depression, mood swings, and decreased memory experienced by the patient. The doctor also enquires about the family's medical history to find out if anybody else in the family has this disorder.
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Physical Examination:
The doctor asks the patient to perform simple activities like walking and running. This is done to check for any abnormalities in walking patterns and balance problems. The doctor also checks if the patient shows any signs of uncontrollable body movements and unclear speech.
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Psychiatric Evaluation:
The psychiatrist evaluates a number of factors like the ability to grasp new information, organizing skills, multitasking abilities, ability to focus or pay attention, lack of awareness of the surroundings, and sudden changes in behavior.
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Brain Imaging Tests:
The imaging tests include computed tomography (CT) scan and magnetic resonance imaging (MRI). Computed tomography of the brain is a test that uses a computer and various x-rays to obtain images of the brain from different angles. This test helps to find any abnormalities in the brain and surrounding structures. Magnetic resonance imaging of the brain is a painless procedure that involves the use of a magnet, a computer, and radio waves to obtain precise images of the brain. It gives a more clear image of the brain and its surrounding structures than a CT scan. Both imaging tests give an idea about the areas of the brain affected by Huntington's chorea. These tests also help the doctor to rule out the possibility of other brain disorders that show similar symptoms.
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Genetic Testing:
If the doctor doubts that the patient is affected by Huntington's chorea, the doctor may ask the patient to undergo genetic testing. This test can be useful in patients who are unaware if they have a family history of this disorder. This test involves taking blood from the patient and sending it to the laboratory for testing the huntingtin gene. This test shows if any abnormality is present in the huntingtin (HTT) gene, which is an indicator of this disorder.
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Predictive Genetic Test:
This involves genetic testing done in a person who does not show symptoms of Huntington's chorea. Predictive genetic testing is done based on the fact that any of the family members of the person has a history of this disorder.
How Is Huntington’s Chorea Treated?
There is no specific treatment to cure Huntington's chorea. However, certain treatment options reduce the symptoms of this disorder. They are as follows:
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Medications:
Medications that help to control abnormal and involuntary body movements are given to the patient. Antidepressant drugs are given to the patient to treat conditions like anxiety, depression, and fear. Antipsychotic drugs are used to treat symptoms like hearing, feeling, or seeing things that are not really present. Drugs are also given to provide stability to the moods of the patient that keeps changing.
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Speech Therapy:
As the patients affected with Huntington's disease have poor control of the muscles of the mouth, they experience abnormalities in talking and swallowing. Hence a speech therapist helps to improve the clarity of speech. The speech therapist also teaches the patient to communicate with others without speaking. This is done with the help of communication devices like a board covered with images of items used in everyday life.
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Physical Therapy:
The therapist formulates some exercise plans for the patient to improve balance, coordination, and flexibility. Physical therapy helps the patient to carry out functions like walking and climbing stairs in a more efficient way without the risk of falling. The exercises formulated according to the ability of the patient help to maintain constant movements of the body without losing balance. In patients who have severe symptoms of movement problems, the use of external support like a wheelchair or walker may be advised.
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Occupational Therapy:
An occupational therapist helps the patient to improve the skills needed to carry out the everyday activities of life. The therapist makes the patient perform simple activities like picking up tiny objects, running, and jumping. The occupational therapist also advises the patient's caregivers to use certain devices to improve the patient's functional skills. This may include steps like placing a handrail at home that enables the patient to get support while walking and using utensils for drinking and eating that are easy to handle for patients with limited skills and movements.
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Psychotherapy:
The psychotherapist or social worker helps the patient to improve behavioral skills and to communicate with people by overcoming the fear of facing the public.
Conclusion:
Huntington’s chorea is a condition that can create life-threatening problems, if left untreated. However, the correct treatment helps the patient to get relief from the symptoms. Hence consulting a doctor at the right time and following an efficient treatment plan with the help and support of family members helps the patient lead a normal life.
