What is Huntington’s disease?
Huntington’s disease is a rare genetic disorder that causes nerve cells in the brain to break down. As the cells break down, your ability to move, think and speak declines.
Huntington’s disease affects approximately 30,000 people in the United States. If left untreated, it can lead to serious liver disease, central nervous system issues and death.
Types of Huntington's disease
There are two types of Huntington’s disease:
Adult-onset Huntington’s disease
Most people with Huntington’s disease develop the condition in their 30s or 40s.
Early-onset or juvenile Huntington’s disease
In some cases, a person will develop Huntington’s disease as a child or young adult. Symptoms appear quickly and may mimic those of Parkinson’s disease.
Causes of Huntington’s disease
Huntington’s disease is a faulty gene that is passed down from a parent on chromosome 4. In Huntington’s disease patients, this gene produces an abnormal amount of the protein huntingtin, which accumulates in the brain and damages cells that regulate movement, speaking and thinking.
Risk factors for Huntington’s disease
Children of parents with Huntington’s disease are have a 50/50 chance of developing the condition as well.
Symptoms of Huntington’s disease
Symptoms present between the ages of 30 and 50 and progress over 10 to 15 years before the patient succumbs to other conditions such as pneumonia or heart failure. Early symptoms of Huntington’s disease may include:
- Mood swings
- Inability to think clearly
- Inability to make decisions
Symptoms intensify as the disease progresses and may include:
- Inability to feed yourself
- Speech problems
- Uncontrolled body movement
- Problems with memory
- Feeling confused
- Problems feeding yourself and/or swallowing
People with early onset Huntington’s disease may experience tremors, slowed movement and rigidity.
Diagnosis of Huntington’s disease
If your doctor suspects you have Huntington’s disease, he or she will refer you to a neurologist for diagnosis and treatment. During an exam with your neurologist, your doctor will perform a full physical, neurological and psychological exam, take a full medical history, and may order diagnostic tests such as an MRI or CT scan.
- Neurological exam — a neurological exam will test your motor, sensory and psychiatric systems, looking for any problems with reflexes, strength, balance, coordination, hearing, vision and mental state.
- Neuropsychological exam — a neuropsychological exam will test your cognitive abilities such as memory and reasoning.
- Diagnostic testing — diagnostic testing such as an MRI or CT scan may be able to reveal structural changes in the brain that indicate Huntington’s disease or rule out other conditions that have similar symptoms.
- Genetic testing — if your doctor thinks you have Huntington’s disease, he or she may order a genetic test to check for the gene that causes Huntington’s disease.
Treatments for Huntington’s disease
There is not a cure for Huntington’s disease. The goal of treatment is to manage symptoms of the disease. Treatments may include:
- Medications — there are a variety of medications that can help relieve the symptoms of depression, movement issues and hallucinations associated with Huntington's disease.
- Physical, speech or occupational therapy — physical, speech and occupational therapy can help you maintain your motor skills and strength as the disease progresses.
- Psychiatric therapy — psychiatric therapy can help you cope with the psychological changes you experience as the disease progresses.