Huntington's Disease

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What is Huntington's disease?

Huntington's disease (HD) is an inherited disorder marked by progressive degeneration of brain cells. Most individuals with Huntington's disease develop some signs and symptoms in their 30s or 40s.

What are some signs or symptoms of Huntington's disease?

Huntington's disease results in worsening difficulty in motor control (movement), cognition (thinking), and behavior. In many cases, a person with HD will experience the same areas of difficulty throughout the course of the disease, with severity varying from stage to stage.

Motor problems include impairments in voluntary movements as well as onset of uncontrolled involuntary jerking or writhing movements (chorea). Individuals with HD also typically have muscle problems, such as rigidity or muscle contracture (dystonia), as well as impaired gait, posture, and balance. Impairments in motor control have significant impact on a person's ability to perform daily activities and remain independent. Speech and swallowing problems typically occur when the centers of motor or cognitive control responsible for these functions are affected.

  • Communication problems are typically characterized by slurred speech due to muscle weakness and incoordination (dysarthria). Disruption in programming and sequencing muscle movements for speech (apraxia), poor control of speaking rate (talking too fast or too slowly), and problems coordinating breathing and voice are also common. Some individuals with HD also have poor voice quality (hoarse/harsh, breathy, volume too low or too high).
  • Swallowing problems (dysphagia) are common among people with HD. Statistics have repeatedly shown that the number one cause of death among persons with HD is aspiration pneumonia (food or liquid enters the airway, rather than the esophagus, during eating or drinking and then forms a collection in the lung that can become pneumonia). Difficulty with motor control in HD results in impulsivity while eating, difficulty controlling the rate of food or liquid intake, and lack of coordination between the swallowing process and breathing. Chorea (uncontrolled movements) of the oral or pharyngeal muscles (tongue, lips, throat, esophagus) can also occur.

Cognitive problems in HD are marked by difficulty with memory, sequencing, new learning ability, reasoning, and problem solving.

Behavior problems in HD are often a result of worsening depression. Beyond the impact of the diagnosis, depression in HD is a result of changes to brain structures responsible for mood. Associated changes in behavior include social withdrawal, irritability, apathy, insomnia, and suicidal thoughts.

What causes Huntington's disease?

HD is caused by an inherited defect in a gene. Children of individuals with HD have a 50% chance of inheriting the gene and ultimately developing the disease.

How common is Huntington's disease?

The Huntington's Disease Society of America [PDF] estimates that 1 in every 10,000 Americans has HD and more than 250,000 others are at risk of having inherited it from a parent.

How is Huntington's disease diagnosed?

HD is diagnosed through genetic and other neurological testing. Tests can be done before a person has any symptoms to determine if he or she is carrying the HD gene.

What treatments are available for people with Huntington's disease?

At this time, there is no cure or way to stop the progression of HD. Medications are typically prescribed by the person's doctor to manage symptoms. Early intervention and involvement with rehabilitation professionals (including speech-language pathologists, physical therapists, and occupational therapists) is highly recommended. People can learn compensatory strategies more successfully during the early stages of HD and then apply them throughout the course of the disease.

What do speech-language pathologists do when working with people with Huntington's disease?

The SLP can be helpful at all stages of the disease. In the early stages, the SLP can assist in developing strategies to help an individual with HD compensate for the communication, swallowing, and cognitive problems he or she might be experiencing. As the disease progresses, the role of the SLP additionally evolves into helping preserve and maintain the person's highest level of independence in communication and swallowing. The SLP can also evaluate a person's ability to use augmentative or alternative communication (AAC) devices and techniques that can supplement the individual's verbal communication.

The SLP can evaluate a person's swallowing function and make recommendations that involve positioning issues, feeding techniques, diet consistency changes, and education of the person with HD and family members or caregivers. Special testing known as videofluoroscopy (or a modified barium swallow) can be done by an SLP and a radiologist to determine if a person is actually aspirating a particular consistency. This test provides an inside view of a person in the act of swallowing food or liquid and can be a useful tool in developing strategies for safe swallowing.

What can I do to help someone with Huntington's disease communicate?

Although alternative methods of communication are available, people with HD generally prefer to attempt verbal communication for as long as possible, even if their speech becomes hard to understand. Family members and other communication partners can help by encouraging the speaker to:

  • speak more slowly;
  • say one word at a time;
  • repeat the word or sentence when necessary;
  • rephrase the sentence;
  • exaggerate the sounds;
  • speak louder (taking a deep breath before speaking);
  • describe what he or she is trying to say if he or she can' t think of the word or indicate the first letter of the word;
  • use gestures;
  • keep sentences short;
  • use alternative techniques, such as word boards, alphabet boards, picture boards, or electronic devices.

The following are some suggestions for the listener:

  • eliminate distractions (TV's, radio, large groups of people);
  • keep questions/statements simple;
  • ask one question at a time;
  • use yes/no question format as much as possible;
  • pay attention to gestures and facial expressions/changes;
  • if you do not understand what is being said, don't pretend that you do; ask for clarification or repeat what you think was said in the form of a question, such as, "Did you say...?"
  • try to keep to familiar topics;
  • encourage the speaker to use his/her specific compensatory strategies;
  • allow enough time for the person to convey his/her message;
  • most important, be patient with the speaker.

What other organizations have information about Huntington's disease?

This list is not exhaustive, and inclusion does not imply endorsement of the organization or the content of the website by ASHA.