By Martha Nance, MD, Director, Huntington’s Disease Center of Excellence at Hennepin County Medical Center

 A Huntington’s disease diagnosis can often be difficult. Behavior changes may mimic symptoms of other diseases. Behavior changes in people with Huntington’s disease can include anxiety, moodiness, irritability, paranoia and psychosis. Mild involuntary movements may be noticed only by others or may be thought just to represent a nervous tic or twitch. Unsteady gait or changes in balance are common. Other common early Huntington’s disease symptoms include subtle changes in thinking and memory, sleep disturbance, and changes in personality or speech.

 A Huntington’s disease diagnosis starts with a careful description of the symptoms that are bothering the at-risk person and his or her family, as well as a family history. The doctor will then perform a physical exam, focusing on the neurologic and psychiatric aspects of the exam.  The results of the Huntington’s disease diagnosis exam can be measured using the Unified Huntington’s Disease Rating Scale, based on motor, behavioral, cognitive and functional assessments. 

A Huntington’s disease diagnosis includes neurological and psychiatric exams. During a neurological exam, a neurologist will conduct a variety of tests to study a patient’s reflexes, muscle strength and tone, vision and eye coordination, hearing, general coordination and balance, mental status and mood. A psychiatric exam will focus on his or her emotional state, general behavior, judgment ability, coping skills and indications of disordered thinking. The psychiatrist will also look for signs of substance abuse.

 Brain-imaging tests, such as an MRI scan, can aid in a Huntington’s disease diagnosis by uncovering structural changes at various locations in the brain that are affected by Huntington’s disease. Unfortunately, changes often are not noticeable until Huntington’s disease has progressed. The MRI scan, however, can also rule out other diseases that may be causing symptoms. A physician seeking a Huntington’s disease diagnosis for his or her patient may also order a neuropsychology consult, or neuropsychometric testing, to look carefully for the cognitive changes that are typical of Huntington’s disease, which may not be obvious during an office examination of thinking and memory.

Because Huntington’s disease affects the entire family, Huntington’s Hope raises post-secondary education scholarship money for the children of parents with Huntington’s disease. The organization hopes to raise $1 million in 2013 with 100 percent of Huntington’s disease donations going directly into an endowment fund to create these scholarships.

To help, please DONATE NOW. 

Good Samaritan Society – Specialty Care Community in Robbinsdale, Minn., owned and operated by the Evangelical Lutheran Good Samaritan Society, is one of only eight long-term skilled care centers in the United States with a dedicated program for individuals with Huntington’s disease.