Adult-onset, inherited disease that causes progressive nerve cell degeneration in the brain (more exactly in the basal ganglia and cortex). The disease is associated with physical, mental and behavioral decline.

Causes

 

Faulty gene on the fourth chromosome – the gene produces abnormal huntingtin (protein)

Inherited defective gene

Symptoms and signs

Usually appear between 30 and 50 years of age (in rare cases in which a person is diagnosed before the age of 20, it is called juvenile Huntington’s disease)

Chorea (abnormal movements, involuntary jerking)

Rigidity in muscles, stiffness

Muscle contractions

Difficulty speaking and swallowing

Impaired balance and posture

Difficulties concentrating, organizing tasks

Impulsive actions

Inability to “think straight”

Lack of awareness regarding own behavior

Difficulty in assimilating new information

Depression

Irritability

Sadness

Insomnia

Fatigue

Avoidance of social contexts

Suicidal thoughts

Developing psychiatric disorders: OCD, bipolar disorder, mania

Advice

Initially, the doctor will check family medical history, ask about symptoms and do a physical examination, afterwards further testing is recommended: neurological, neuropsychological, psychiatric

 

Neurological examination: to assess motor symptoms (reflexes, coordination, balance, muscle strength), senses (touch, vision, hearing), psychiatric status and mood

 

Neuropsychological evaluation – to check language function, mental abilities, memory

 

Imaging tests: MRI, CT scans – to observe structural changes of the brain that may occur due to the disease

 

Genetic testing and counseling

 

Unfortunately, the disease is incurable and treatment is focused on symptom management that needs to be constantly reviewed and modified as the disease progresses

 

Medication for movement disorders: tetrabenazine (for involuntary movements), antipsychotics, amantadine, levetiracetam, clonazepam

 

Medication for psychiatric disorders: antidepressants, antipsychotics, mood-stabilizers

 

Recommended therapies: psychotherapy, physical therapy, speech therapy, occupational therapy

 

Specialized assistive devices and instruments such as handrails and eating/drinking utensils for persons with limited mobility

MISCONCEPTIONS
  • Huntington’s disease only affects males

     

    If a person has the defective gene, he/she will start experiencing symptoms at the same age as the parents

     

    Huntington’s disease skips generations

     

    Genetic testing cannot detect the defective gene until the first symptoms appear

Statistics

US prevalence: 30,000 people diagnosed and 200,000 at risk of developing the disease (inherited)

 

There is a 50/50 chance that a child which has a parent with Huntington’s will inherit the disease

 

Estimated prevalence range: 4.1-8.4/100,000 people (US)

 

Estimated prevalence in European countries: 1.63-9.95/100,000 people

Did you know?

The disease is named after George Huntington, the American physician that described it in 1872 as hereditary chorea.

 

Huntington’s disease has been described by some sufferers as being as bad as ALS (amyotrophic lateral sclerosis), Parkinson’s and Alzheimer combined.

 

Onset age varies according to which parent was affected by Huntington’s disease. If the mother is affected then the onset age is more likely to be around the age she started experiencing symptoms. If the father is affected then the onset age will probably occur earlier than his.