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Huntington’s Disease – Symptoms And Treatments

Huntington's Disease - Symptoms And Treatments

What is Huntington’s disease?

Huntington’s disease (HD), likewise known as Huntington’s chorea, is an inherited progressive breakdown (degeneration) of nerve cells in the brain. It usually begins to manifest when the person turns 30 years and above, but it can start as early as two years old. 

Huntington’s disease causes uncontrolled progressive movements, emotional problems, and loss of thinking ability (cognition). 

What are the symptoms of Huntington’s disease?

Here are the signs and symptoms Of Huntington’s Disease:

  • Jerky, random uncontrolled movement of the arms, legs, head, face, and upper body (this jerky movement is known as chorea). 
  • The decline in thinking and reasoning skills
  • The gradual loss of memory
  • Inability to concentrate at work or during serious activities that require mental activity (work). 
  • Poor judgment
  • Inability to plan and organize
  • Depression
  • Physical instability (Impaired gait, posture and balance)
  • Social withdrawal
  • Abnormal facial expression
  • Difficulties chewing, swallowing, and speaking
  • Weight loss (which may lead to malnutrition)
  • Anxiety
  • Unexplained anger
  • Apathy
  • Irritability
  • Obsessive-compulsive behavior
  • Uncontrolled repetition of statements and activities (Repeating the same question or action over and over again)
  • Seizures
  • Insomnia
  • Difficulty in learning new information or new skills
  • Lack of awareness of one’s behaviors and abilities. 

What causes Huntington’s disease?

Huntington’s disease is caused by the defective, short arm of chromosome 4. It is one of the 23 human chromosomes that carry a person’s entire genetic code. 

How is Huntington’s disease diagnosed?

Several diagnostic techniques are used to confirm the diagnosis, some of which are:

  • Physical examination
  • Psychological analysis
  • Genetic testing
  • Computerized tomography (CT)
  • Magnetic resonance imaging (MRI)
  • Functional magnetic resonance imaging (fMRI)
  • Positron emission tomography (PET)

How is Huntington’s disease treated?

Sadly, there is no cure for Huntington’s, although several medical techniques are applied according to the individual to manage symptoms and to enhance the patient’s daily life. Some of which are:

  • Physical therapy
  • Psychotherapy
  • Occupational therapy
  • Speech therapy
  • Diet and nutrition management is necessary to keep weight up and maintain adequate recommended daily nutrients.

Drug therapy used for treating Huntington’s disease include: 

  • Tetrabenazine (Xenazine): is prescribed to suppress involuntary jerking and movements (chorea). It is a drug approved by the Food and Drug administration for Huntington’s. 
  • Antipsychotic (haloperidol (Haldol) and chlorpromazine)
  • Antidepressant: citalopram (Celexa), escitalopram (Lexapro), and fluoxetine (Prozac, Sarafem).
  • Anticonvulsants: valproate (Depacon) and carbamazepine (Carbatrol, Epitol, Tegretol).

Complications Of Huntington’s Disease:

  • Pneumonia
  • Heart disease
  • Frequent falls (physical injury from falls). 
  • Suicide is one of the causes of death in approximately 9% of incidents

What is the average life expectancy of a person with Huntington’s disease? 

Most patients die within 10 – 30 years after symptoms develop.

Brief History Of Huntington’s Disease:

  • Huntington’s disease has been around since the Middle Ages, but American physician Charles Oscar Waters first described it in 1841. He described a form of chorea. 
  • It was later described in further detail in 1872 by American physician George Huntington whom the disease is named after. 
  • In 1993, the genetic basis of Huntington’s was discovered by an international collaborative effort led by the Hereditary Disease Foundation.