Huntington's disease  (gene found in 1993), is a hereditary, degenerative, and terminal brain disease for which there is no current treatment or cure. Huntington's disease is caused by a genetic defect on chromosome 4. Huntington's disease is also abbreviated—HD, or Juvenile Huntington's disease—JHD, is an autosomal dominant disease. This means that only one parent must have the mutated gene for a child to inherit the disease. Huntington's does not skip generations. This disease slowly diminishes the affected individual's ability to walk, talk, and reason. In time, the person with HD relies completely upon others for their personal care. HD affects the lives of entire families — emotionally, psychologically, socially, and economically.

 

HD affects males, females, and knows no ethnic and racial boundaries. Many of us within the international community describe the symptoms of JHD/HD as having, ALS, Parkinson’s, Alzheimer's Bipolar disorder, and Schizophrenia – all at the same time. Simply, Huntington's disease is more than a physical disease! Every child of a person with Huntington's disease has a 50/50 chance of inheriting the fatal gene. Often, the individual with HD might seem to be (or act) "drunk" to the on-looker, due to the physical attributes of the disease.

 

Juvenile Huntington's disease (JHD) affects younger individuals. Upwards of 10 percent of known cases of Huntington's disease is the Juvenile form. Individuals who suffer from JHD experience seizures and many other horrific attributes of this disease, however, the onset of physical and emotional symptoms happens earlier in life. Diagnosis of JHD usually happens when symptoms manifest before the age of twenty.

 

Important Fact: Every person on the planet has the Huntington gene (CAG repeat) within their DNA. It is only when this gene expands (via the parent) that the offspring may be at risk, and/or have the disease.

Multi-Media Resources!

WeHaveAFace.org Inc. has launched the first of its kind radio show for Huntington's disease - WeHaveAVoice!

 

WeHaveAVoice Radio is a platform designed for our international HD/JHD peers and care providers to discuss topics and personal experiences with Huntington's and Juvenile Huntington's disease.  All shows are recorded for later listening via - iTunes, YouTube, SoundCloud, and Spreaker!  Stay tuned as WeHaveAVoice hits iHeart Radio! It is time for us to speak up! It is time for us to speak out!  

 

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National Institute of General Medical Sciences National Institutes of Health

When someone has Huntington's disease, part of the DNA sequence: (CAG: cytosine — adenine — guanine) repeats more times than normal. It is important to understand that everyone on the planet is born with the Huntington gene - CAG repeat. The healthy gene repeat is between 10 to 26 times. Repeats of CAG have been detected over 100 times.

Listen to Dr. Nopoulos of University of Iowa explain what a negative and a positive CAG result is.

How many CAG repeats will cause Huntington’s disease?

Symptoms

By Mayo Clinic Staff

 

Huntington's disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly among affected people. During the course of the disease, some disorders appear to be more dominant or have a greater effect on functional ability.

 

Movement disorders

The movement disorders associated with Huntington's disease can include both involuntary movements and impairments involuntary movements:

  • Involuntary jerking or writhing movements (chorea)

  • Muscle problems, such as rigidity or muscle contracture (dystonia)

  • Slow or abnormal eye movements

  • Impaired gait, posture and balance

  • Difficulty with the physical production of speech or swallowing

Impairments involuntary movements — rather than the involuntary movements — may have a greater impact on a person's ability to work, perform daily activities, communicate and remain independent.

 

Cognitive disorders

Cognitive impairments often associated with Huntington's disease include:

  • Difficulty organizing, prioritizing or focusing on tasks

  • Lack of flexibility or the tendency to get stuck on a thought, behavior or action (perseveration)

  • Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity

  • Lack of awareness of one's own behaviors and abilities

  • Slowness in processing thoughts or ''finding'' words

  • Difficulty in learning new information

Psychiatric disorders

The most common psychiatric disorder associated with Huntington's disease is depression. This isn't simply a reaction to receiving a diagnosis of Huntington's disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:

  • Feelings of irritability, sadness or apathy

  • Social withdrawal

  • Insomnia

  • Fatigue and loss of energy

  • Frequent thoughts of death, dying or suicide

 

Other common psychiatric disorders include:

  • Obsessive-compulsive disorder, a condition marked by recurrent, intrusive thoughts and repetitive behaviors

  • Mania, which can cause elevated mood, overactivity, impulsive behavior and inflated self-esteem

  • Bipolar disorder, or alternating episodes of depression and mania

In addition to the above symptoms, weight loss is common in people with Huntington's disease, especially as the disease progresses.

Symptoms of juvenile Huntington's disease

The onset and progression of Huntington's disease in younger people may be slightly different from that in adults. Problems that often present themselves early in the course of the disease include:

Behavioral changes

  • Loss of previously learned academic or physical skills

  • Rapid, significant drop in overall school performance

  • Behavioral problems

 

Physical changes

  • Contracted and rigid muscles that affect gait (especially in young children)

  • Changes in fine motor skills that might be noticeable in skills such as handwriting

  • Tremors or slight involuntary movements

  • Seizures

 

When to see a doctor

See your doctor if you notice changes in your movements, emotional state or mental ability. The signs and symptoms of Huntington's disease can be caused by a number of different conditions. Therefore, it's important to get a prompt, thorough diagnosis.

Aam Hubers: "Published studies suggest that suicide is 2-8 times more common in HD than the general population. HD patients thoughts of suicide seem to occur at a stage when they are losing their independence and becoming more dependent on care. Because existing information was sparse, Hubers set out to study a large number of HD patients across time to understand suicide in HD. Hubers wonders - what factors lead to HD mutation carriers thinking of, or attempting, suicide? About 20% of HD mutation carriers studied by Hubers, whether or not they have symptoms of HD, thought of suicide in the last month. The studies Hubers is conducting suggest that HD patients who report being depressed seem to have higher risk of suicide. Hubers recommends HD patients with depression should be carefully watched for signs of thinking of suicide, based on increased risk." Via HDBuzz  - World Congress 2013.

You are not alone! You are important! Please reach out and call the National Suicide Prevention Lifeline! Living with Huntington's disease is very difficult, but you are important! Reach out to a loved one or the hotline!

Huntington Study Group

The Huntington Study Group (HSG) is a non-profit group of physicians and other health care providers from medical centers in the United States, Canada, Europe, Australia, New Zealand and South America, experienced in the care of Huntington patients and dedicated to clinical research of Huntington disease. The HSG was formed in 1993, prompted by the recognition that clinical research in Huntington disease (HD) required the participation of large numbers of research patients (subjects) under the cooperative care of skilled and experienced research physicians. 

Find Studies and Trials in your area > More Information

"For many caregivers of people with HD, there comes a point where caring for your loved one at home is no longer possible. This can be due to many reasons, including being unable to dedicate the time to care or coordinate care for your loved one, being unable to manage the complex needs of caring for your loved one, or being burnt out from the caregiving process. It is at this point that many people start looking into the option of placing their loved one in a long-term care facility. Click the links found on this page for guidance and resources. For more information on long-term care or to be connected to local resources, please feel free to contact the HDSA National Helpline (800) 345-HDSA, or email the HDSA directly -  hdsainfo@hdsa.org."

"If someone you care about has been diagnosed with Huntington’s disease (hd), this guide has been written for you. In these pages, we will cover some of the major symptoms of hd and how the symptoms will change over time. We will also offer suggestions and strategies for coping with the daily challenges presented by hd. We have drawn from the experiences of countless other hd families and the medical professionals who serve them. As a caretaker, you have an essential role to play in your loved one’s life and care. This guide was developed to help support you during the journey that is hd." - HDSA

What is HDBuzz?

"HDBuzz is the first internet portal for the rapid dissemination of high-quality Huntington’s disease (HD) research news to the global community, written in plain language, by HD clinicians and scientists. It covers laboratory and clinical research, with the aim of helping HD people to understand the latest HD science, on their own terms." - HDBuzz

Filling a Dire Need

Each year in the United States, about 2,000 people are diagnosed with Huntington’s Disease and more than 5,000 are diagnosed with ALS.  While there are no cures for Huntington’s Disease and ALS, the right kind of care and technology can make a dramatic difference in the quality of life for patients with these diseases.

 

We are Improving Quality of Life for Individuals with Huntington’s disease and ALS. Each year in the United States, some 2,000 people are diagnosed with Huntington’s Disease, and more than 5,000 are diagnosed with ALS or amyotrophic lateral sclerosis.

 

Approximately 30,000 Americans are currently living with HD, and 15 new individuals are diagnosed with ALS each day. These neurodegenerative diseases cannot be cured, which leads to the demand for patient-centered care from skilled health care professionals. Our program is the first of its kind in Upstate New York, providing comprehensive care from onset through the progression of the disease for these residents.

 

Marie Clay of Rome, New York is pleased that this program exists in her area.  

HOPES is a team of faculty and undergraduate students at Stanford University dedicated to making scientific information about Huntington’s disease (HD) more readily accessible to the public. Our goal is to survey the rapidly growing scientific literature on HD and to present this information in a web source. We seek to provide information about causes, symptoms and treatment of HD that reflects current scientific understanding of HD. To date, HOPES resources have reached out to families in over 47 countries.​

What is HDDW?

"Huntington's Disease Drug Works (HDDW) founded by LaVonne and Nathan Goodman in 2004 has evolved over the years. At present the focus is providing information on present treatment options for Huntington's disease that include:

 

Drugs that are presently available and used (with variable success) for treatment of symptoms that include chorea, depression, anxiety, irritability, agitation, psychosis, apathy and rigidity." - HDDW

Treatment Algorithms 

HDDW has provided the community with algorithms and flow charts which can better assist your doctor with treatment plans for you or a loved one with Huntington's disease. Review the documents with family and provide them to your doctor.  

 

 

 

       Patient and Family Summary  

 

 

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