General Health Tips & News

Huntington's Disease: Unraveling the Mysteries of a Devastating Genetic Disorder

By A.S. (staff writer) , published on September 02, 2023

Medicine Telehealth Health


What is Huntington's Disease?

Huntington's Disease (HD) is a hereditary neurological disorder that progressively damages and kills nerve cells, or neurons, in specific regions of the brain. These areas of the brain control voluntary movements and various other functions. Individuals affected by HD experience uncontrollable, dance-like movements called chorea, abnormal body postures, and a range of issues related to behavior, emotions, cognition, and personality.



Symptoms of Huntington's Disease

HD manifests through a constellation of symptoms:

  1. Chorea: Uncontrolled, jerky movements, often affecting the fingers, feet, face, or torso. These movements can become more pronounced when the individual is nervous or distracted.

  2. Cognitive Decline: People with HD may experience problems with thinking, reasoning, and judgment. Memory issues are also common.

  3. Psychiatric Symptoms: Mood disturbances like depression and anxiety are prevalent, as are psychotic symptoms such as delusions or hallucinations. Personality changes, including apathy, irritability, and impulsivity, can occur.

  4. Motor Impairments: HD affects coordination, leading to difficulties in walking, speaking, and swallowing.

  5. Dystonia: Some individuals with HD may develop dystonia, characterized by sustained muscle contractions causing twisting or repetitive movements.

  6. Akinesia: Instead of chorea, some individuals become rigid and move very little or not at all as the disease progresses.

  7. Tremor: Involuntary back-and-forth movements of muscles can also occur, along with unusual eye movements.

  8. Physical Changes: These may include slurred speech, and problems with swallowing, eating, and walking. Weight loss is common due to feeding and choking difficulties.

  9. Cognitive Changes: Cognitive decline worsens with disease progression, affecting attention, judgment, problem-solving, and memory.

  10. Behavioral Changes: Mood swings, irritability, apathy, and even psychosis can manifest. Individuals with HD may withdraw from social activities.



Who is More Likely to Get Huntington's Disease?

HD is inherited, typically passed from parent to child through a mutation in the HTT gene. This gene normally contains a specific number of CAG repeats, but in individuals with HD, this number exceeds 36, leading to a mutated form of the huntingtin protein. A child of an affected parent has a 50 percent chance of inheriting the mutated gene. When HD occurs without a family history, it's called sporadic HD.



How is Huntington's Disease Diagnosed and Treated?


  • Neurological Exam and Medical History: A neurologist assesses medical history and conducts neurological and physical exams to rule out other conditions.

  • Diagnostic Imaging: Brain imaging via CT or MRI can reveal brain changes associated with HD, although normal scans can still occur early in the disease.

  • Genetic Tests: Genetic testing, especially the direct genetic test, counts CAG repeats in the HD gene using DNA from a blood sample.




While there's no cure for HD, some symptoms can be managed:

  • Tetrabenazine and Deuterabenazine: These drugs can help control chorea.

  • Antipsychotic Drugs: They may manage psychiatric symptoms and chorea.

  • Drugs for Depression and Anxiety: Prescribed to address mood disorders.


Other options include:

  • Physical and Occupational Therapy

Physical and occupational therapy can help individuals maintain their motor function and independence for as long as possible.


  • Supportive Care

Providing emotional and psychological support to individuals with HD and their families is crucial. Support groups and counseling can help address the emotional toll of the disease.



Latest Updates on Huntington's Disease Research:

  1. Understanding Mechanisms: Researchers are delving into the cellular and molecular mechanisms of HD, investigating how the huntingtin protein affects cell signaling and its role in DNA maintenance.

  2. Biomarkers: Efforts are underway to identify and validate biomarkers for HD, which could aid in prediction, diagnosis, and monitoring.

  3. Stem Cells: Cultures of cell lines are being used to understand why neurons malfunction in HD and to test potential new drugs.

  4. Gene-Editing: Researchers are exploring gene-editing techniques to reduce or eliminate the production of the mutated huntingtin protein.

  5. Imaging: Advanced imaging technology is being used to understand HD's effects on the brain's chemical systems and its structural changes.

  6. Brain Development: Altered brain development is being investigated as a contributing factor to HD.



How You Can Help Improve Care for HD:

Consider participating in clinical trials. Clinical research helps doctors and scientists understand more about HD and develop better treatments. Volunteers of all ages, backgrounds, and health conditions are needed to ensure that findings apply to as many people as possible and that treatments are safe and effective for everyone.




  1. Rubinsztein DC: Lessons from animal models of Huntington's disease. Trends Genet. 2002, 18: 202-9. 10.1016/S0168-9525(01)02625-7.

  2. Quarrell OWJ, Brewer HM, Squiteri F, Barker RA, Nance MA, Landwehrmeyer B: Juvenile Huntington's disease. Oxford University Press; 2009.

  3. Bourne C, Clayton C, Murch A, Grant J. Cognitive impairment and behavioral difficulties in patients with Huntington's disease. Nurs Stand. 2006;20:41–4.

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