What is Huntington’s Disease? Huntington’s Disease Symptoms

Huntington’s disease causes nerve cells in the brain to decay over time. The disease affects a person’s movements, thinking ability and mental health. Huntington’s disease is rare. It is usually passed on through a changed gene inherited from a parent. Symptoms of Huntington’s disease can appear at any time. But it usually starts when people are in their 30s or 40s. If the disease develops before the age of 20, it is called juvenile Huntington’s disease. When Huntington’s develops early, symptoms may be different and the disease may progress more quickly. Medications are available to help manage the symptoms of Huntington’s disease. However, treatments cannot prevent the physical, mental and behavioral decline caused by the disease.

What is Huntington’s Disease?

Huntington’s disease is an inherited disorder that causes brain cells to gradually lose function and die. It affects cells in the parts of your brain that regulate voluntary movements and memory. Common symptoms include uncontrollable movements and changes in your thinking, behavior, and personality. These symptoms worsen over time. There are two types of Huntington’s disease:

• Adult onset: This is the most common form. Symptoms usually begin after age 30.
• Early onset (Juvenile Huntington’s disease): Early onset affects children and teenagers. It is very rare.

What Causes Huntington’s Disease?

A genetic change (mutation) of the HTT gene causes Huntington’s disease. The HTT gene produces a protein called huntingtin. This protein helps your nerve cells (neurons) function.

If you have Huntington’s disease, the DNA does not have all the information needed to make the huntingtin protein. These proteins grow abnormally and destroy neurons. Neurons die due to this genetic mutation.

Destruction of nerve cells occurs in the basal ganglia, or the area of ​​the brain that regulates the body’s movements. It also affects the cerebral cortex (surface of the brain), which regulates thought, decision-making and memory.

What are the Symptoms of Huntington’s Disease?

Huntington’s disease often causes movement disorders. It also causes mental health problems and problems with thinking and planning. These conditions can cause a wide variety of symptoms. Initial symptoms vary greatly from person to person. Some symptoms appear worse or have a greater impact on functional ability. Huntington’s disease symptoms may vary in severity over the course of the disease.

Movement disorders: Movement disorders associated with Huntington’s disease can cause uncontrollable movements called chorea. Chorea is involuntary movements that affect all muscles of the body, especially the arms and legs, face and tongue. They may also affect the ability to make voluntary movements. Symptoms may include:

• Involuntary jerking or writhing movements
• Muscle stiffness or muscle contracture
• Slow or unusual eye movements
• Difficulty walking and maintaining posture and balance
• Difficulty speaking or swallowing

People with Huntington’s disease may also not be able to control voluntary movements. This may have a greater impact than involuntary movements caused by the disease. Having trouble with voluntary movements can affect a person’s ability to work, perform daily activities, communicate, and remain independent.

Cognitive conditions: Huntington’s disease often causes problems with cognitive skills. These symptoms may include:

• Having trouble organizing, prioritizing, or focusing on tasks
• Lack of flexibility or getting stuck in a thought, behavior or action is known as perseveration
• Lack of impulse control can lead to outbursts, impulsiveness, and sexual permissiveness
• Lack of awareness of one’s own behavior and abilities
• Slowness in processing thoughts or “finding” words
• Difficulty learning new information

Mental health conditions: The most common mental health condition associated with Huntington’s disease is depression. This isn’t just a reaction to being diagnosed with Huntington’s disease. Instead, depression appears to occur due to damage to the brain and changes in brain function. Symptoms may include:

• Irritability, sadness, or apathy
• social withdrawal
• sleep problem
• Fatigue and loss of energy
• Thoughts of death, dying, or suicide

Other common mental health problems include:

• Obsessive-compulsive disorder is a disorder characterized by recurring intrusive thoughts and repetitive behaviors.
• Mania, which can cause elevated mood, hyperactivity, impulsive behavior, and inflated self-esteem
• Bipolar disorder is a disorder in which depression and mania episodes are experienced alternately.

Weight loss is also common in people with Huntington’s disease, especially as the disease worsens.

How Is Huntington’s Disease Diagnosed?

A neurologist (a doctor who specializes in the brain and nerves) diagnoses Huntington’s disease after performing a physical and neurological examination. They will look for symptoms of the condition that affects movements, such as twitching and jerking, and problems with balance, reflexes and coordination. The neurologist will also want to know if anyone else in the biological family has the condition. Often, a genetic test is needed to confirm the diagnosis.

Tests can rule out other conditions that cause similar symptoms and confirm a diagnosis of Huntington’s disease. Tests include:

• blood tests
• genetic testing
• imaging tests

How Is Huntington’s Disease Treated?

No treatment can change the course of Huntington’s disease. However, medications can reduce some symptoms of movement and mental health problems. Multiple interventions can help a person adapt to changes in abilities over a period of time.

The medications you take may change over the course of the disease, depending on your overall treatment goals. Also, medications that treat some symptoms can cause side effects that worsen other symptoms. Treatment goals are reviewed and updated regularly.

● A psychotherapist can provide talk therapy to help with behavioral symptoms. The psychotherapist can help you and your family develop coping strategies, manage expectations as the illness worsens, and help family members communicate.

● Huntington’s disease can affect the control of the mouth and throat muscles necessary for speaking, eating and swallowing. A speech therapist can help you improve your ability to speak clearly or teach you to use communication devices. A communication device can be as simple as a board covered with pictures of everyday items and activities. Speech therapists can also address eating and swallowing problems.

● A physical therapist can teach appropriate and safe exercises that increase strength, flexibility, balance and coordination. These exercises can help maintain mobility for as long as possible and reduce the risk of falls.

Who Gets Huntington’s Disease?

Huntington’s disease is caused by a faulty gene that causes parts of the brain to become damaged over time.

You are generally only at risk of developing this disease if one of your parents has or has had the disease. Both men and women can get this disease.

If one parent has the Huntington disease gene, this happens:

• Each child has a 1 in 2 (50%) chance of developing the disease – affected children can also pass the gene on to other children they have
• There is a chance that one in every two children (50%) will never develop the disease – unaffected children cannot pass it on to other children they have

Very rarely, it is possible to have the disease without a family history of Huntington’s disease. But this is usually because one of your parents was never diagnosed with the disease.