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Huntington’s Disease

Types, Costs, Procedure, Benefits and Risks

Huntington’s disease is a rare and progressive disorder that is typically seen in people in their 30s or 40s. In contrast, juvenile Huntington’s disease is even less common and occurs in people under the age of twenty.

Children who have a parent with a mutated gene inherit this disorder. A child has a 50% chance of having Huntington’s disease if one of the parents has a defective HTT gene.

Causes

The HTT gene carries information that is used to make huntingtin, a protein that helps neurons function. Consequently, this gene is altered in HD, resulting in abnormal protein synthesis that harms or kills neurons in the brain, destroying nerve cells in specific brain regions responsible for movement and cognition.

  • Jerky or twitchy movements
  • Memory issues
  • Walking challenges
  • Tremors
  • Decision-making impairment
  • Disturbed thinking & reasoning ability
  • Inability to concentrate
  • Improper balance
  • Speech disturbances
  • Difficulty swallowing.

The initial sign of Huntington’s disease is chorea, which is characterized by uncontrollable movements of the hands, fingers, and facial muscles. Occasionally, these jerky movements may be noticed in the arms and legs.

Diagnosis

  • A comprehensive physical and neurological examination is required to evaluate movement, flexibility, walking, hearing, balance, and overall mental health to diagnose HD.
  • Performing a brain imaging test, such as a computer tomography scan, aids in understanding the structural damage to the brain or any changes that are responsible for developing HD, although those changes are not to be taken as ideal diagnostic factors since these abnormalities may appear in several other conditions.
  • Genetic tests, using a blood sample from an individual, help to rule out any mutated genes and assess the likelihood of passing the condition

Treatment

  • Medications such as fluoxetine (antidepressant), risperidone (antipsychotic), and lithium (mood stabilizer) are preferred for improving conditions such as depression, irritability, or other emotional changes.
  • To treat the first signs of Huntington’s disease, called chorea, twitching, or jerky movements, which interrupt your daily activities such as eating, speaking, walking, & driving, drugs such as tetrabenazine and haloperidol are prescribed.
  • Overall health can be improved by exercising, eating a balanced diet, and following a regular sleep schedule.
  • Apart from the current medical approach, physical, occupational, and speech therapy that will alleviate the neurological, motor, and cognitive symptoms, research is underway to better understand HD and evaluate different therapeutic approaches, including stem therapies etc.
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