Huntington's disease is a rare inherited condition that causes the progressive degeneration of brain neurons. It leads to problems with movement, behavior, and communication, and can cause symptoms such as muscle spasms, balance issues, and difficulty speaking or swallowing.
The symptoms of Huntington's disease, also known as Huntington's chorea, are progressive and usually begin between the ages of 30 and 50. However, in some cases they may appear during childhood or adolescence, before age 20. When this happens, it is called juvenile Huntington's disease.
Treatment for Huntington's disease is managed by a neurologist and typically involves medications to relieve symptoms, along with psychotherapy, physical therapy, and occupational therapy to help improve quality of life.
Main symptoms
The main symptoms of Huntington's disease include:
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Quick, involuntary movements known as chorea, which often start in one limb but gradually affect multiple parts of the body
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Muscle spasms or twisting movements
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Stiffness, tremors, or muscle contractions
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Slow eye movements
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Difficulty moving and slowed body movements
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Trouble walking or standing, which may result in falls
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Difficulty speaking and swallowing, increasing the risk of choking and aspiration pneumonia
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Problems with organization, focus, and planning tasks
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Memory loss
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Impulsive behavior
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Irritability, which may lead to explosive or aggressive behavior
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Feelings of sadness or lack of emotion
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Trouble paying attention
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Slowed thinking and difficulty finding words
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Problems learning new information
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Excessive fatigue and low energy
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Insomnia
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Unintentional weight loss
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Depression
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Psychosis
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Suicidal tendencies
Symptoms can vary from person to person and may progress more quickly or become more severe depending on treatment.
When symptoms of Huntington's disease appear, especially with a family history, it is important to consult a primary care physician or neurologist for evaluation and testing so treatment can begin.
Symptoms in juvenile onset Huntington's disease
Juvenile onset Huntington's disease may cause slightly different symptoms compared to the adult form, including:
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Frequent falls or tripping
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Delayed speech and language development
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Slurred speech
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Learning difficulties
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Rapid and significant decline in school performance
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Behavioral problems
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Tremors
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Mild involuntary movements
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Seizures
These symptoms usually appear before age 20 and tend to progress gradually. In teenagers, behavioral changes and chorea are often the first signs.
How a diagnosis is confirmed
The diagnosis of Huntington's disease is made by a neurologist, primary care doctor, or pediatric neurologist in the case of children and adolescents. It involves reviewing symptoms, family history, and performing physical, neurological, and psychiatric exams.
The doctor may also order imaging tests, such as a CT scan, to evaluate affected areas of the brain and rule out other conditions with similar symptoms, such as tardive dyskinesia, cerebral lupus, Wilson's disease, aceruloplasminemia, or McLeod syndrome.
A genetic test can also be performed to confirm the mutation responsible for Huntington's disease.
If one parent has Huntington's disease, prenatal testing may be used to diagnose the condition. This can be done through chorionic villus sampling between the 11th and 12th week of pregnancy or through amniocentesis between the 15th and 17th week.
Possible causes
Huntington's disease is caused by a genetic mutation that is inherited and leads to degeneration of important areas of the brain. This genetic mutation is dominant, which means only one copy of the altered gene from either parent is enough to cause the disease.
The mutation produces an abnormal form of a protein that damages and kills nerve cells in certain brain regions, leading to the symptoms of the disease.
Treatment options
Treatment for Huntington's disease should be managed by a neurologist and psychiatrist, with the goal of reducing symptoms and improving quality of life.
1. Use of medications
Medications are used to manage movement disorders and psychiatric symptoms. These may include:
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Drugs that control movement changes, such as tetrabenazine or amantadine
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Antipsychotics, such as haloperidol, fluphenazine, olanzapine, quetiapine, or aripiprazole
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Antidepressants, such as sertraline, citalopram, or mirtazapine
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Mood stabilizers, such as carbamazepine, lamotrigine, or valproic acid
These medications help relieve symptoms but do not stop the progression of Huntington's disease. They must be prescribed by a doctor, and regular follow-up appointments are necessary to monitor treatment.
2. Psychotherapy
Psychotherapy, including cognitive behavioral therapy, helps people manage behavioral problems and develop strategies to cope with symptom flare-ups. It also provides support for dealing with the challenges and expectations of living with Huntington's disease.
3. Physical therapy
Physical therapy strengthens muscles, improves walking, balance, and coordination, and helps train daily activities such as walking safely to prevent falls. Exercises are adapted to the person’s individual needs.
4. Occupational therapy
Occupational therapy helps reduce difficulties with daily tasks like eating or walking. Therapists may recommend assistive devices, such as adaptive utensils or wheelchairs, to help maintain independence and improve quality of life.
5. Speech therapy
Speech therapy is used to improve muscle control for speech and swallowing. This supports better communication, eating, and swallowing, while reducing the risk of choking and aspiration pneumonia.