Huntington's Disease (HD)

What is Huntington’s disease?

Huntington's disease is an inherited, progressive brain disorder that causes degeneration of nerve cells (neurons), in which afflicted individuals lose their ability to control involuntary muscle movements affecting the hands, feet, face, and trunk and deterioration of cognitive processes and memory (dementia). Neurologic movement abnormalities may include uncontrolled, irregular, rapid, jerky movements (chorea) and athetosis, a condition characterized by relatively slow, writhing involuntary movements. People with Huntington’s disease also develop impaired coordination, slurred speech, and difficulty feeding and swallowing. Huntington’s disease causes disability that gets worse over time. People with this disease usually die within 15 to 20 years following diagnosis. Every individual with a mutated copy of the HD gene will eventually develop the disease. 
 
 
Huntington disease has 2 subtypes:
 
  • Adult-onset Huntington disease. This is the most common form of Huntington disease. People typically develop the symptoms in their mid-30s and 40s.
  • Early-onset Huntington disease. In rare instances, children or adolescents will develop the disease. Children tend to experience abrupt difficulties with schoolwork.
 
 
Risk factors
 
  • Family history. If you inherit a specific mutation of the huntingtin (HD) gene from an affected parent, you will develop the disease.
  • Age. The age of onset of Huntington’s disease varies greatly from person to person, but most people develop it in their 30s or 40s.
 
 
Diagnosis
The diagnosis of Huntington’s disease relies on positive family history, characteristic clinical findings, and the detection of an expansion of 36 or more CAG trinucleotide repeats in HTT (the huntingtin gene or HD gene).
 
 
Treatment
There is no cure for Huntington’s disease, but health care providers can offer medications and therapy to help with certain symptoms. Still, it does not slow the progression of Huntington disease, and the patient eventually becomes completely dependent on others for daily functioning. 
 
 
 
# HUNTINGTON’S DISEASE BY THE NUMBERS #
 
  • Every child of a parent with HD has a 50% chance of inheriting the faulty gene. 
  • In Western countries, it is estimated that about 5-7 people per 100,000 are affected. 
  • Seizures occur in 30- 50% of children with this condition.  
 
HD about
 
 

Sources
  • "Huntington's Disease." Mayo Clinic. Mayo Foundation for Medical Education and Research, 24 July 2014. Web. 15 May 2017.
  • "Huntington Disease." Huntington Disease | Johns Hopkins Medicine Health Library. Johns Hopkins Health System, n.d. Web. 15 May 2017.
  • "Huntington's Disease." NORD (National Organization for Rare Disorders). National Organization for Rare Disorders, n.d. Web. 15 May 2017.
  • "Huntington's Disease Information Page." National Institutes of Health. U.S. Department of Health and Human Services, n.d. Web. 15 May 2017.
  • "Huntington Disease - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 15 May 2017.
  • "Genes and Human Disease." WHO. World Health Organization, n.d. Web. 15 May 2017.

 

 

NOTE: The information on this page and any information found on healtheo360 is not a substitution for professional medical advice, diagnosis or treatment. If you think you may have a medical emergency, CALL 911 immediately. See additional information about our Terms & Conditions.