All You Should Know About Huntington’s disease

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Huntington’s disease is an inherited brain disorder that causes progressive damage (degeneration) of nerve cells in the brain. Huntington’s disease happens due to the faulty gene that causes toxic proteins (huntingtin) to collect in brain. Toxic protein collect causes damage, leading to neurological symptoms such as thinking (cognitive) and psychiatric disorders, problem in movements.

Huntington’s disease (HD) affects one person in every 30,000 people in the United States. The first signs appear between the ages of 30 and 50 years in people. But it may appear before and after as well. Each child of a parent with HD has a 50% chance of inheriting the disease and is said to be at-risk due to its dominant nature.

Medications are available to help manage the symptoms of Huntington’s disease, but treatments can’t prevent the physical, mental and behavioral decline associated with the condition.

Symptoms of Huntington’s disease

Early symptoms are less severe and occur at age of 30 to 40 year. They tend to worsen over 10 to 20 years and eventually it is fatal.

Early signs and symptoms

Early symptoms are hard to identify until and unless there is history of HD in family. Initial signs and symptoms include:

  • Mood swings, clumsiness
  • Depression
  • Lack of concentration
  • Slight uncontrollable movements
  • Unusual behavior, irritation

Late signs and symptoms

Symptoms gets more severe in physical and emotional way.

Physical symptoms:

  • Dropping things from hand
  • weight loss due to weakness
  • slurry and difficulty in speaking
  • Uncontrollable movement of face, jerking and fidgety (chorea)
  • stumbled walk
  • difficulty in eating and swallowing
  • choking becomes a major concern, in later stage.

Emotional symptoms

  • Aggression and anger
  • Depression and frustration
  • Anti-social behaviour
  • Mood swings
  • Disorientation
  • Slowness in processing thoughts or ”finding” words
  • Insomnia

Diagnosis of HD

A diagnostic genetic test is done. The test confirms that the defective gene for huntingtin protein is the cause of symptoms in people with suspected Huntington’s disease and can detect the defective gene in people who don’t yet have symptoms but are at risk because a parent has Huntington’s.

Complications of HD

Weakness can make immune system weak and patient may tend to get sick easily.

Depression, mood swings and frustration can lead to suicidal tendency.

HD itself is not usually fatal, but choking, pneumonia or another infection can be.

Treatment

HD is currently incurable. There is no treatment that can reverse its progression or slow it down.

However, some symptoms can be managed with medication and therapies.

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