Huntington Disease

What is Huntington Disease?Huntington disease is a genetic progressive brain disorder caused by a defective gene. It is named after the physician. George Huntington who discovered it in the late 1800s. This single defective gene carries all the genetic code of the person and has the blueprint of the Huntington protein. Lack of this protein causes many brain changes which include a decline in thinking and reasoning apart from mood changes. The onset of this disease happens in adulthood around the age of 30s and is called adult-onset Huntington disease. It can also begin in childhood known as juvenile form and is less common. Huntington Disease SymptomsThe symptoms of adult-onset Huntington disease, which is a common type has the following:

  • Mild Involuntary movement of the muscles
  • Irritability
  • Mood changes
  • Hallucinations
  • Psychosis
  • Depression
  • Trouble understanding new things and making decisions
  • Poor coordination

As the disease progresses the patient has difficulty walking, twitching called chorea, trouble speaking, memory loss, confusion, and a general decline in cognitive abilities. Early-onset or juvenile form of this disease is less common and happens in childhood or adolescence. The disease can cause physical, emotional, or mental changes. The symptoms are:

  • The decrease in school performance
  • Difficulty functioning at school
  • Slight problems in concentrations
  • Short term memory loss
  • Irritability
  • Depression
  • Drooling
  • Seizures
  • Rigid muscles
  • Clumsiness
  • Slow Movements
  • Slurred speech

Who is at Risk?Huntington disease risk factors are huge in people who have a gene carrying that disease, they are:

  • People who are carrying this gene will at some point in their life show symptoms of this disease.
  • People who have a parent with this disease have a 50% chance of developing it.
  • People in the age group of 30 and above and have this gene show signs.
  • It can also be seen in kids and adolescents who have inherited this gene but is less common.
  • Anyone can develop Huntington disease, but it is seen more in people of European descent.

Huntington Disease CausesThe Huntington disease is caused by a faulty gene present on chromosome number 4. In the normal process, this gene produces a protein called huntingtin which is essential for the normal functioning of the body. The faulty gene is:

  • Larger than the normal gene, produce cytosine, adenine, and guanine excessively.
  • These are the building blocks of DNA and repeats 10 to 35 times.
  • But in Huntington disease, it creates 36 to 120 times and also results in the huntingtin protein increasing in form.
  • When that happens, it accumulates in the brain releasing toxins and leading to damage to brain cells especially those related to memory, movement, and thinking.

How is Hungtington Disease Diagnosed?Family history is a major consideration in Huntington Disease diagnosis. There are other tests too which includes:

  • Neurological tests: This is performed to check the reflexes, balance, muscle tone, coordination, strength, vision, and even hearing.
  • Imaging tests: An EEG is performed as a Huntington disease test to check the activity in the brain in case of seizures. Brain imaging is also done to check for physical changes in the brain.
  • MRI: To record images of the brain for a detailed study.
  • CT scan: To get the cross-sectional images of the brain
  • Psychiatry tests: To determine the emotional state and coping skills.
  • Gene testing: This is done to get a definitive diagnosis and also to know the risk of passing it on to the next generation.

How is Hungtington Disease Treated?Currently, there is no Huntington disease treatment to slow down or progress it. Medications and therapy can help in bringing relief to the symptoms:

  • Medications: Medicine for Huntington disease is provided which aids in reducing involuntary movements, muscle contraction, muscle rigidity, depression, and mood swings.
  • Physical therapy: There are many types of therapies that are conducted like physical therapy which helps in improving mobility, balance, coordination, and flexibility.
  • Occupational therapy: It helps in leading a normal life as the doctor may help in learning to use devices that help in daily activities.
  • Speech therapy: It is useful when the disease causes speech problems.
  • Psychotherapy: To help develop coping skills and also solve emotional problems.

Consult our psychiatrist at Cure.fit to manage the disease effectively as there is no Huntington disease cure. How can Huntington Disease be Prevented? Prevention of Huntington disease is next to impossible. The only option is to reduce the rate of progress of the disease. There are many support groups that have people with the disease taking and sharing their concerns. That helps in connecting with other people who are in similar situations. If one of the couples has the faulty gene and wishes to have a baby, IVF is one possibility which prevents the faulty gene from being passed to the child.

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