“World Lupus Day was 5/10/23 and by WELCOA a health topic for May. Genes do play a role in the predisposition to the development of lupus. There are dozens of known genetic variants linked to lupus. These genes impact both who gets lupus and how severe it is.  20 percent of people with lupus will have a parent or sibling who already has lupus or may develop lupus. About 5 percent of the children born to individuals with lupus will develop the illness.  Although lupus can develop in people with no family history of lupus, there are likely to be other autoimmune diseases in some family members.  Lupus is not contagious, not even through sexual contact. You cannot “catch” lupus from someone or “give” lupus to someone.

World Lupus Day (https://worldlupusday.org/lupus-facts-and-statistics/)

“You can’t cure or slow the progression of Huntington disease, but health care providers can offer medications to help with certain symptoms.   As Huntington disease progresses, you will need constant assistance and supervision because of the debilitating nature of the disease. People usually die from the disease within 15 to 20 years of developing symptoms.  If you have been diagnosed with, or are at risk for Huntington disease, it is critical to maintain your physical fitness as best you can. People who exercise regularly and stay active tend to do better than those who don’t.  A number of studies are currently under way to examine possible therapies for Huntington disease.”

John Hopkins Hospital (https://www.hopkinsmedicine.org/health/conditions-and-diseases/huntingtons-disease)

“Huntington Disease (HD) typically begins between the ages of 30-45, though onset may occur as early as the age of two or as late as the 70s.  HD affects males and females equally and affects all ethnic and racial groups.  Symptoms of HD can differ from person to person, even for members of the same family.  Early symptoms may include depression, mood swings, forgetfulness, clumsiness, involuntary twitching, and lack of coordination.  HD usually progresses over a 10-25 year period. Death follows from complications such as choking or infection.  Affected individuals require assistance for daily care such as bathing and dressing.  Each child of a person with HD has a 50% chance of inheriting the HD-causing gene mutation.  More than 250,000 Americans have HD or are “at-risk” of inheriting the disease from an affected parent.  A blood test can accurately determine whether an adult carries the HD-causing gene.”

Hennepin Healthcare (https://www.hennepinhealthcare.org/specialty/neurology/huntingtons-disease-clinic/hd-facts/)

Diagnosis

A preliminary diagnosis of Huntington’s disease is based primarily on your answers to questions, a general physical exam, a review of your family medical history, and neurological and psychiatric examinations.

Neurological examination

The neurologist will ask you questions and conduct relatively simple tests of your:

• Motor symptoms, such as reflexes, muscle strength and balance
• Sensory symptoms, including sense of touch, vision and hearing
• Psychiatric symptoms, such as mood and mental status

Neuropsychological testing

The neurologist may also perform standardized tests to check your:

• Memory
• Reasoning
• Mental agility
• Language skills
• Spatial reasoning

Psychiatric evaluation

You’ll likely be referred to a psychiatrist for an examination to look for a number of factors that could contribute to your diagnosis, including:

• Emotional state
• Patterns of behaviors
• Quality of judgment
• Coping skills
• Signs of disordered thinking
• Evidence of substance abuse

Brain imaging and function

Your doctor may order brain-imaging tests for assessing the structure or function of the brain. The imaging technologies may include MRI or CT scans that show detailed images of the brain.

These images may reveal changes in the brain in areas affected by Huntington’s disease. These changes may not show up early in the course of the disease. These tests can also be used to rule out other conditions that may be causing symptoms.

Genetic counseling and testing

If symptoms strongly suggest Huntington’s disease, your doctor may recommend a genetic test for the defective gene.

This test can confirm the diagnosis. It may also be valuable if there’s no known family history of Huntington’s disease or if no other family member’s diagnosis was confirmed with a genetic test. But the test won’t provide information that might help determinine a treatment plan.

Before having such a test, the genetic counselor will explain the benefits and drawbacks of learning test results. The genetic counselor can also answer questions about the inheritance patterns of Huntington’s disease.

Predictive genetic test

A genetic test can be given if you have a family history of the disease but don’t have symptoms. This is called predictive testing. The test can’t tell you when the disease will begin or what symptoms will appear first.

Some people may have the test because they find not knowing to be more stressful. Others may want to take the test before having children.

“Know Huntington’s disease is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington’s disease has a wide impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.  Huntington’s disease symptoms can develop at any time, but they often first appear when people are in their 30s or 40s. If the condition develops before age 20, it’s called juvenile Huntington’s disease. When Huntington’s develops early, symptoms are somewhat different and the disease may progress faster.  Medications are available to help manage the symptoms of Huntington’s disease. But treatments can’t prevent the physical, mental and behavioral decline associated with the condition.”

MAYO CLINIC

Causes:

Huntington’s disease is caused by an inherited defect in a single gene. Huntington’s disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.

With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent. A parent with a defective gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disorder.

Complications:

After the start of Huntington’s disease, a person’s functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from disease emergence to death is often about 10 to 30 years. Juvenile Huntington’s disease usually results in death within 10 years after symptoms develop.

The clinical depression associated with Huntington’s disease may increase the risk of suicide. Some research suggests that the greater risk of suicide occurs before a diagnosis is made and in the middle stages of the disease when a person has begun to lose independence.

Eventually, a person with Huntington’s disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. However, he or she is generally able to understand language and has an awareness of family and friends.

Common causes of death include:

• Pneumonia or other infections
• Injuries related to falls
• Complications related to the inability to swallow

Prevention:

People with a known family history of Huntington’s disease are understandably concerned about whether they may pass the Huntington gene on to their children. These people may consider genetic testing and family planning options.

If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor will discuss the potential risks of a positive test result, which would indicate the parent will develop the disease. Also, couples will need to make additional choices about whether to have children or to consider alternatives, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.

Another option for couples is in vitro fertilization and preimplantation genetic diagnosis. In this process, eggs are removed from the ovaries and fertilized with the father’s sperm in a laboratory. The embryos are tested for presence of the Huntington gene, and only those testing negative for the Huntington gene are implanted in the mother’s uterus.

“Huntington’s disease (HD) is a progressive brain disorder caused by a defective gene. This disease causes changes in the central area of the brain, which affect movement, mood and thinking skills. The cause of this disease is the defective gene identified in 1993 causes virtually all Huntington’s disease.

The Huntington gene defect involves extra repeats of one specific chemical code in one small section of chromosome 4. The normal Huntington gene includes 17 to 20 repetitions of this code among its total of more than 3,100 codes. The defect that causes Huntington’s disease includes 40 or more repeats. Genetic tests for Huntington’s disease measure the number of repeats present in an individual’s Huntington protein gene.”

Alzheimer’s Association (https://www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/huntington-s-disease)

Huntington’s disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington’s disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.

Most people with Huntington’s disease develop signs and symptoms in their 30s or 40s. But the disease may emerge earlier or later in life.

When the disease develops before age 20, the condition is called juvenile Huntington’s disease. An earlier emergence of the disease often results in a somewhat different set of symptoms and faster disease progression.

Medications are available to help manage the symptoms of Huntington’s disease, but treatments can’t prevent the physical, mental and behavioral decline associated with the condition.

Symptoms

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 movement problems and impairments in voluntary movements, such as:

• 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 in voluntary 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 — a condition with 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 start 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

“Hepatitis D virus and hepatitis E virus. Hepatitis D virus infection always occurs with hepatitis B infection, either with a chronic hepatitis B infection (superinfection) or as two simultaneous new infections (coinfection).Reports are rare. Cases of hepatitis D are typically associated with injection drug use. Cases of hepatitis E are typically travel associated.  Humans are the reservoir for hepatitis D, which is usually transmitted by contact with blood or body fluids, particularly sharing drug paraphernalia. Humans and animals (swine) are the reservoir for hepatitis E which is transmitted most commonly through fecal contaminated food, water, and environment.”

Washington State Dept of Health (https://doh.wa.gov/public-health-healthcare-providers/notifiable-conditions/hepatitis-d-and-e)