This post was developed via a partnership with BetterHelp.
Huntington’s disease is a rare hereditary disorder that causes neurons (brain cells) in certain areas of the brain to degenerate. It affects about 5 in 100,000 people of Western European descent and happens less frequently among people of Asian and African American descent.
Since the disease impacts different regions of the brain, people with Huntington’s usually have debilitating physical, cognitive, and emotional symptoms. With time, a person with this condition will develop difficulties walking, thinking, swallowing, and talking. Typically, patients with Huntington’s disease eventually need round-the-clock care.
The condition has two main subtypes: early-onset and adult-onset Huntington’s disease. Early-onset Huntington’s is the rarest form of Huntington’s and happens when a child develops the condition during early childhood or adolescence. Adult-onset Huntington’s, on the other hand, is the most common form of this condition and tends to appear between the ages of 30 and 50, although it can occur at any age.
What are the symptoms of Huntington’s disease?
Symptoms of Huntington’s disease vary from person to person, and they also differ depending on the stage of the disease. Generally speaking, individuals with Huntington’s experience a wide range of physical and psychological symptoms.
Early stages of Huntington’s disease
The early symptoms of Huntington’s disease include:
- Difficulty concentrating and organizing day-to-day tasks
- Memory lapses
- Increased difficulty with work or school activities
- Stumbling and clumsiness
- Minor involuntary movements (twitching, fidgeting, restlessness)
- Mood changes, irritability, aggression, or depression
- Difficulty with handwriting
Middle or intermediate stages of Huntington’s disease
As the disease progresses, the following symptoms become more prevalent:
- Increased difficulty with activities of daily living
- Weight loss
- Changes with speech, such as drooling or slurring
- Loss of coordination
- Difficulties solving problems
- Memory and judgment issues
- Frequent falls
- Difficulty swallowing
- Noticeable involuntary movements (chorea)
Advanced stages of Huntington’s disease
At the most advanced stages of the condition, people with Huntington’s disease may become severely limited and require full-time assistance. Symptoms include:
- Difficulty or complete inability to swallow and eat independently
- Rigidity
- Severe involuntary movements
- Depression and mood swings
- Severe cognitive loss
- Inability to communicate
- Abnormally slow movements (bradykinesia)
- Psychosis (hallucinations and/or delusions)
- Immobility/becoming bedridden
Early-onset, also known as juvenile Huntington’s disease, causes movement, physical, and emotional challenges, such as:
- Slow movements
- Rigidity
- Drooling and clumsiness
- Seizures
- Sudden changes in school performance
- Tremors
What causes Huntington’s disease?
Huntington’s disease results from a faulty gene in chromosome 4 that’s passed down from parents to children. It is considered an autosomal dominant disorder, which means that you only need one defective copy of the gene to develop the disease. In other words, if one of your parents had Huntington’s disease and the other one didn’t, you’d still have a 50% chance of inheriting it.
Research suggests that people who inherit the faulty gene but don’t develop symptoms do not pass the condition along to their children. Very occasionally, though, it’s possible for people to be diagnosed with Huntington’s disease without a family history of the disorder. However, this only happens in 1 to 3% of all Huntington’s cases.
How is Huntington’s disease diagnosed?
There are several steps involved in a Huntington’s disease diagnosis. A preliminary diagnosis is usually made based on a person’s medical history. If one of your parents had the condition and your doctor thinks you may have it too, they’ll recommend genetic testing to look for the faulty gene.
There are also other tests that may assist in diagnosing Huntington’s disease, such as:
- Computer tomography (CT) scan or magnetic resonance imaging (MRI) to evaluate disease’s progression in the brain
- Psychiatric tests to look for signs of cognitive decline (click here to read more about Huntington’s and mental health)
- Neurological tests to check your reflexes, coordination, muscle tone, balance, swallow reflex, and more
How is Huntington’s disease treated?
Huntington’s disease can’t be cured, but there are treatments available to reduce the severity of its symptoms and some of the problems it may cause.
Treatments for Huntington’s disease include:
Medications: to ease physical symptoms such as involuntary movements and muscle rigidity and address psychological symptoms such as depression or severe mood changes.
Physical and occupational therapy: physical therapy helps manage pain, stiffness, and muscle-related issues. Occupational therapists teach useful strategies that can help individuals with Huntington’s live more independently and help patients find better ways to do basic activities, like eating, bathing, and dressing.
Speech therapy: to help you find ways to speak more clearly. A speech therapist can also teach a person with Huntington’s how to communicate nonverbally by using signs, images, or other tools.
What’s the outlook for people living with Huntington’s disease?
Unfortunately, there’s no cure for Huntington’s, nor is it possible to stop the illness from progressing. Most people with this condition live for 15 to 20 years after developing symptoms with important physical and emotional challenges that worsen over time.
According to Healthline, causes of death for people with Huntington’s disease include:
- Infections, typically related to the lungs
- Complications from being unable to swallow
- Injuries from falling
Bottom line
Huntington’s disease is an uncommon hereditary disorder that results from a faulty gene in chromosome 4. Most people with this condition develop it around ages 30 – 50, although children and teenagers can also get it on rare occasions.
As the disease progresses, people with Huntington’s will require more assistance performing daily tasks due to the debilitating nature of the disease. Speech, physical, and occupational therapy may help a person with Huntington’s disease live a more functional, independent life, and medications can ease a lot of the physical and emotional symptoms that come with the condition.
