Diagnosing Huntington's Disease

Diagnosing Huntington's disease is generally done by an experienced neurologist. A neurologist making a Huntington's disease diagnosis usually begins by interviewing the patient extensively about his or her symptoms and personal and family medical history. The neurologist then typically performs a series of assessments, testing such things as hearing, eye movements, strength, coordination, reflexes, and mental status. Tests used in diagnosing Huntington's disease may include genetic testing and imaging tests (such as CT scans or MRIs).

 

Diagnosing Huntington's Disease: An Overview

The great American folk singer and composer Woody Guthrie died on October 3, 1967, after suffering from Huntington's disease for 13 years. He had been misdiagnosed, considered an alcoholic, and shuttled in and out of mental institutions and hospitals for years before being properly diagnosed with Huntington's disease (also known as Huntington disease or HD). His case, sadly, is not extraordinary.
 
A Huntington's disease diagnosis can be made by experienced neurologists. In order to diagnose Huntington's disease, the doctor will usually ask a number of questions about the patient's personal and family medical history, perform a physical exam, and recommend certain tests.
 

Huntington's Disease Diagnosis: Medical History and Physical Exam

A neurologist will interview the individual intensively to obtain the medical history, including any possible symptoms of Huntington disease, while ruling out other conditions. A method often used by physicians to diagnose Huntington's disease includes taking the family history, sometimes called a pedigree or genealogy. It is extremely important for family members to be candid and truthful with a doctor who is taking a family history.
 
The doctor will also typically ask about recent intellectual or emotional problems, which may be indications of Huntington's disease. He or she will also probably test the person's:
 
  • Hearing
  • Eye movements
  • Strength
  • Coordination
  • Involuntary movements (chorea)
  • Sensation
  • Reflexes
  • Balance
  • Movement
  • Mental status.
     
The doctor will probably order a number of & laboratory tests as well.
 
(Diagnosing Huntington's Disease Continued: Page 2)
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Written by/reviewed by: Arthur Schoenstadt, MD
Last reviewed by: Arthur Schoenstadt, MD