Understanding juvenile Huntington's disease: Signs and symptoms

Many people don’t think of Huntington’s disease as something that can happen to a child. Though it is usually rare, up to 10% of people with the condition typically experience juvenile-onset symptoms. Symptoms of juvenile Huntington’s disease (JHD) often affect movement, thinking, and behavior. Common comorbid conditions can include epilepsy, depression, insomnia, obsessive-compulsive disorder, and bipolar disorder. JHD is typically caused by a gene mutation and tends to progress more quickly than adult-onset HD. While there is currently no cure for JHD, medications can be used to help with symptoms, and therapy can be helpful in coping with the cognitive and emotional symptoms of the disease. If you or a loved one is having trouble coping with a JHD diagnosis, online therapy can be beneficial.

What is Huntington’s disease?

According to the Mayo Clinic, Huntington’s disease (HD) is generally a rare genetic disorder that can cause progressive neurodegeneration (the breakdown of nerve cells) in the brain. The condition can severely impact an individual’s life, with cognitive, physical, and behavioral symptoms typically appearing between the ages of 30 and 50. While there may be medications to manage the symptoms of HD, there are currently no treatments to stop or slow the progression of the disease. While the symptoms may advance slowly for years, HD usually causes parts of the brain to stop working and can significantly reduce life expectancy. 

What is juvenile Huntington’s disease?

When a person develops symptoms of Huntington’s disease before age 20, it is normally considered juvenile Huntington’s disease (JHD). As the symptoms progress, people with JHD may experience uncontrolled movements, a decline in their intellectual capacity, and emotional disturbances. 

According to GARD, less than 5,000 people in the United States may have JHD. However, numerous organizations around the country may be specifically designed to support people with JHD and their families. JHD symptoms can present in children (between ages 2 and 11) or teenagers (ages 12 to 18). 

Juvenile Huntington’s disease signs and symptoms

The symptoms of JHD tend to be similar to the adult disease in that they usually target the core areas of movement, thinking, and behavior. However, the juvenile presentation of this disease usually has some key differences, according to the Huntington’s Disease Association. Symptoms may vary by individual, with some people experiencing things differently or more severely than others, though they all normally affect three central areas. 

Movement

• Children and teenagers with JHD are generally less likely to have chorea—the involuntary movements often seen in adults with HD. However, they may be more likely to experience muscle stiffness and contractions (dystonia).  
• Slow eye movements
• Trouble with posture and balance
• Developing a stiff-legged or scissored gait
• Frequent falls and clumsiness
• Impaired speech
• Difficulty swallowing

Thinking

• Changes in thinking patterns are often an early indication of Juvenile Huntington’s. People may experience trouble concentrating or following instructions, often alongside a noticeable drop in their performance at school or work. These shifts are often not seen as an illness early in the disease’s progression. 
• Lack of impulse control
• Decline in flexibility and the tendency to get “stuck” on a thought or idea
• Drop in awareness of personal ability and behavior
• Decreased speed for processing thoughts and finding desired words
• Trouble learning and retaining new information

Behavior

• Behavioral changes can also be common with juvenile-onset HD. Behavioral changes may be dismissed as related to other life stressors or typical growing pains at first. 
• Depression can be a common occurrence in individuals with JHD. However, according to the Mayo Clinic, researchers believe this may be a result of brain injury from the disease, rather than a reaction to the diagnosis. 
• Children and teenagers with juvenile Huntington’s disease may display behavioral problems without apparent cause. The loss of abilities and independence can cause intense sadness, anger, fear, and grief while making it more challenging to regular emotions. 

Other conditions common with JHD

• Epilepsy: This is a neurological disorder typically characterized by abnormal brain activity causing seizures. This happens in approximately 25% of JHD cases, according to the Huntington Society of Canada.
• Depression: This is a psychiatric disorder that often involves persistent feelings of sadness, social withdrawal, fatigue, and potentially suicidal thoughts or ideation*.
• Insomnia: This normally consists of a prolonged difficulty falling or staying asleep.
• Obsessive-Compulsive Disorder: This is a condition normally involving repetitive behaviors and intrusive, recurrent thoughts.  
• Bipolar Disorder: This is a psychiatric disorder typically characterized by alternating cycles of depression and mania.  

*If you or a loved one are experiencing suicidal thoughts, reach out for help immediately. The 988 Suicide & Crisis Lifeline can be reached at 988 and is available 24/7.

JHD progression

According to the Huntington’s Disease Society of America, JHD typically has a faster progression rate than adult-onset HD. Available information indicates that the earlier symptoms begin, the faster JHD is likely to progress. The disease is usually fatal within 10 years of juvenile-onset, compared to a life expectancy of 10 to 25 years in adult-onset HD. 

“There is no cure or treatment to stop, slow or reverse the progression of JHD,” the society’s website states. 

What causes juvenile Huntington’s disease?

Huntington’s disease and JHD are normally caused by a mutated Huntingtin or HTT gene, which can cause a nucleotide sequence in the DNA to repeat more than it should. All people with 40 or more repeats in the Huntingtin gene may develop HD at some point in their lives. The disease typically causes mutated proteins to gather in the brain, which may be related to the neurodegeneration it causes. HD is an autosomal dominant mutation, meaning that children of a parent with HD normally have a 50% chance of developing the disease. The mutated gene is usually passed through the father’s DNA, though children can also inherit it from their mothers.

What are the chances of developing Huntington’s Disease?

A recent study examined HD prevalence from 1985 to 2022, showing a worldwide average of roughly four cases per every 100,000 people. According to statistics from the University of California San Francisco, approximately one person in every 10,000-20,000 people in the United States will develop HD. 

How is JHD diagnosed?

Because the symptoms of JHD can often mimic other diseases like attention deficit hyperactivity disorder, depression, or Parkinson’s disease, the condition may be undiagnosed or misdiagnosed for some time. A person typically needs to be over 18 before getting the genetic test for Huntington’s disease, potentially adding a further roadblock to early detection. According to the Cleveland Clinic, neurologists typically use physical exams, family history, blood tests, genetic testing, and imaging tests such as MRI to confirm an HD or JHD diagnosis. 

Treatment and support for juvenile Huntington’s disease

Researchers issued a call to arms in a 2020 edition of the Journal of Huntington’s Disease, seeking information and verifiable studies about which psychotherapy options could be the most effective in treating the cognitive and emotional symptoms of HD and JHD. 

There are currently a variety of gene therapies in the human trials stage, though none have been conclusively shown to help yet. Medications may help treat JHD symptoms, and talk therapy can help those with JHD adjust to and cope with emotional and behavioral changes. 

Focusing on quality of life

Groups like the Huntington’s Disease Youth Organization (HDYO) often focus on helping to improve the quality of life for people with JHD. Young people are encouraged to become their own champions and educate their communities about juvenile Huntington’s disease. HDYO frequently works with many families experiencing JHD. Many people may not realize their impact on others’ lives and the inspiration they can offer simply by persevering with JHD. 

“There is meaning in life after a diagnosis of Huntington’s disease,” said Dr. Martha Nance, Medical Director of the HD Centre of Excellence in Minnesota.

Dr. Nance said one of her dearest patients found a community among his classmates in school, who rallied by his side throughout the disease’s progression, offering support and encouragement. Others find a place in their areas, often working with organizations to empower individuals with special needs. Because JHD can be so rare, communities often offer inclusive support and assistance to help families living with the disease. 

Seeking help through therapy

The nature of JHD can be devastating for the person with the disease and their loved ones. Psychotherapy or talk therapy can be a helpful addition to your support network. A licensed therapist can help you identify and express your feelings, find healthy coping strategies, and shift your focus to the quality of life. 

If you or a loved one is adjusting to life with juvenile Huntington’s disease, you may expect significant emotional highs and lows in the future. Consider establishing a relationship with a licensed therapist through an online provider. Many patients prefer the convenience of flexible appointment formats and receiving therapy from the comfort of their own homes. 

According to various studies, online therapy sessions can be as effective as in-person treatments for many patients, particularly those comfortable in the virtual environment.