Huntington ‘s disease is an incurable, hereditary brain condition. This is a debilitating disease that causes brain cells, or neurons, to become damaged.
This occurs when a defective gene triggers the accumulation of harmful proteins within the brain.
The first signs usually show up between the ages of 30 and 50 years.
Important facts about Huntington’s disease
- Huntington’s disease (HD) is an inherited disease that attacks nerve cells gradually over time.
- The disease happens when a faulty gene makes an abnormal version of the huntingtin protein.
- Early symptoms may include mood swings, clumsiness, and unusual behavior.
- During the later stages of the disease, choking becomes a major concern.
- There is currently no cure, but medications may help relieve symptoms.
What is Huntington’s?
Neurological disorder is Huntington’s disease (HD). This is an inherited disorder that arises because of defective genes. Toxic proteins accumulate in the brain and cause damage which leads to symptoms of neurology.
It influences movement, actions, and reasoning, as parts of the brain deteriorate. It becomes harder to walk, think, reason, swallow, and talk. The person would ultimately need the full-time treatment. Typically the consequences are fatal.
Currently there is no cure, but symptom treatment can help.
It is most likely that signs and symptoms will appear between the ages of 30 and 50 but they can occur at any age. We appear to get worse in 10 to 20 years.
The Huntington disease or its causes are inevitably fatal.
The symptoms of HD may sound like getting amyotrophic lateral sclerosis (ALS), Parkinson’s and Alzheimer’s all in one, according to the Huntington ‘s Disease Society of America (HDSA).
The key symptoms include:
- personality changes, mood swings, and depression
- problems with memory and judgment
- unsteady walk and uncontrollable movements
- difficulty speaking and swallowing, and weight loss
How the signs and symptoms evolve can vary from individual to individual. Depression occurs in some people before affecting the motor skills. Early signs of mood swings and unusual behavior are common.
Early signs and symptoms
Early signs can not be known if there has not been HD in the family before. It can take a long time to reach a diagnosis.
Initial signs and symptoms include:
- slight uncontrollable movements
- small changes in coordination and clumsiness
- slight signs of mood and emotional change
- lack of focus, slight concentration problems, and difficulty functioning, for example, at work
- lapses in short-term memory
The person may lose motivation and concentration, and may appear lethargic and lack initiative.
Some potential symptoms of HD may include stumbling, dropping items and missing the names of people. Yet most people do so from time to time.
The middle and later stages
Symptoms become more serious over time.
Those include physical changes, loss of regulation of motion and changes in emotion and cognition.
The person may experience:
- difficulty speaking, including looking for words and slurring
- weight loss, leading to weakness
- difficulty eating and swallowing, as the muscles in the mouth and diaphragm may not work properly
- risk of choking, especially in the later stages
- uncontrollable movements
There may be uncontrollable body movements, including:
- uncontrollable movements of the face
- jerking of parts of the face and the head
- flicking or fidgety movements of the arms, legs, and body
- lurching and stumbling
As HD progresses, uncontrollable movements occur more often and with more severity, typically. Eventually they may become slower as the muscles become more rigid.
These may alternate rather than occurring consistently.
- antisocial behavior
- lack of emotion becomes more apparent
- cognitive changes
There may be:
- a loss of initiative
- a loss of organizational skills
- difficulty focusing
- problems with multitasking
The later stage
Ultimately the person won’t be able to walk or speak anymore, so they will need full nursing.
However, they will probably know most of what is being said and will be aware of friends and family members.
The failure to do things that used to be easy can lead to depression and anger.
Weight loss can worsen the symptoms and weaken the immune system of patients, making them more vulnerable to infections and other complications.
HD itself is usually not fatal, but it can be choking, pneumonia, or some other infection.
It is important to adjust the diet of the patient throughout all stages to ensure adequate intake of the food.
HD is caused by a faulty gene (mhTT) on chromosome number 4.
A normal copy of the gene produces a protein called huntingtin. The defective gene is broader than it should be. It contributes to excessive cytosine, adenine, and guanine production (CAG), the building blocks of DNA. Usually CAG repeats 10 to 35 times but repeats 36 to 120 times in HD. If it repeats 40 times or more it is likely to have symptoms.
This change results in a more extensive form of huntingtin. It is poisonous, and is causing damage to brain cells as it accumulates in the brain.
Some brain cells are responsive to the larger type of huntingtin, particularly movement, thought and memory-related ones. It undermines their role and eventually wrecks them. Scientists aren’t exactly sure how that happens.
How is it passed on?
HD is a disorder known as autosomal dominant. This means that only one copy of the defective gene is required to produce the disease, inherited either from the mother or the father.
A person with the gene has one successful gene copy, and a bad gene copy. Any offspring inherit either the good or the faulty copy. The child inheriting the good copy won’t develop an HD. The child inheriting a defective copy will.
Growing child has a chance of inheriting the defective gene by 50 percent. When they inherit the defective gene, they each have a 50 percent chance of inheriting it. HD will affect generations.
A person who does not inherit the defective gene will not acquire HD and can not pass it on to his or her kids. A child inheriting the faulty gene will develop HD if it reaches age when symptoms are likely to occur.
Approximately 10 percent of HD cases start before age 20. So named juvenile HD (JHD).
The signs are distinctive, and may include weakness of the legs, tremors and learning loss.
About 30 and 50% of JHD sufferers had seizures.
Apparently HD is incurable. There is no medication able to reverse or delay the progression.
Nevertheless, medicine and therapy can relieve some of the symptoms.
The Food and Drug Administration ( FDA) recommends tetrabenazine (Xenazine) for the treatment of HD-associated jerky, repetitive movements, or chorea.
Side effects include depression and thoughts or actions which are suicidal.
- feeling sad and having crying spells
- losing interest in friends and previously enjoyable activities
- sleeping more or less than usual and feeling tired
- feeling guilty or unimportant
- feeling more irritable, angry, or anxious than before
- eating less than usual, possibly with weight loss
- having difficulty focusing
- thinking about harming oneself or ending one’s life
Each of those symptoms or other changes in mood should be reported to the doctor immediately.
Anyone who has a diagnosis of depression should not use tretrabenazine particularly with suicidal thoughts.
Drugs for movement control, outbursts, and hallucinations can include:
- clonazepam (Klonopin)
- clozapine (Clorazil)
These drugs may cause sedation, as well as stiffness and rigidity.
For depression and some obsessive-compulsive features that can appear with HD, the doctor may prescribe:
- fluoxetine (Prozac, Sarafem)
- sertraline (Zoloft)
- nortriptyline (Pamelor)
With intense emotions and mood swings, lithium can help.
Speech therapy can help patients find ways to convey terms and phrases, and more effectively connect.
An occupational and physical therapy
A physical therapist may help improve muscle strength and endurance, resulting in improved balance and decreasing risk.
An occupational therapist may help the patient develop techniques to deal with issues with attention and memory, and make the home safer.
The doctor will examine the patient and ask about family history and medical history, and symptoms such as recent changes in emotion.
If they suspect HD the patient will be referred to a neurologist.
Imaging scans, including a CT or MRI scan, are often used to detect changes in the brain structure of the patient, and to rule out certain conditions.
Genetic testing may be recommended to confirm a diagnosis.
HD has a significant emotional , mental, social , and economic effect on individual and family lives. A person would usually live for 15 to 20 years after diagnosis, but the average varies between 10 and 30 years.
A person with JHD is likely to live about 10 years. This form progresses more quickly.
The cause of death, such as pneumonia or choking, is often a complication.
Although there is no cure at the moment, some therapies can help people manage the condition and improve the quality of life.
Hope for the future?
Scientists hope the gene therapy will find a cure to this disease in the future. Scientists have been searching for ways to cure, delay or avoid HD using gene therapy.
One promising solution is to use molecules known as synthetic small interfering RNAs (siRNAs) to inhibit the production of protein from the defective gene. This would avoid the poisonous protein Huntingtin from accumulating and causing symptoms.
However, the remaining challenge is how to deliver the siRNAs to the correct brain cells, so they can be successful.
In 2017, Emory University scientists suggested that CRISPR / Cas9 techniques, which require “cutting and pasting” DNA, could help to prevent HD in future.
They observed “significant improvements” after 3 weeks, when the researchers engineered the faulty gene in mice. Many traces of the destructive protein had gone away, and the nerve cells showed signs of themselves healing.
Nonetheless, much more research is needed before that can be applied to humans.
Organizations like HDSA are providing support for people with HD and their families.
In 1993 Genetic HD testing became feasible. Anyone with an HD family history may ask their doctor about genetic testing to see if they are carrying the defective gene or not.
Many people prefer to find out whether they have the gene, and whether they are likely to develop symptoms, while others choose not to ask. A genetic counselor can assist in the decision making process.
HD, genetics, and pregnancy
If a couple wishes to have a child, and one parent has the defective gene, in-vitro fertilization (IVF) treatment may be required. The embryo is then genetically tested in a laboratory, and is inserted into the woman only if the defective gene is not present.
Genetic testing can also be done during pregnancy, if an HD family history is present. It can be achieved at 10 to 11 weeks with chorionic villus sample (CVS), or at 14 to 18 weeks with an amniocentesis.
Is there a difference between isopropyl alcohol & rubbing alcohol?
Isopropyl alcohol and water are combined to make rubbing alcohol. It may contain other ingredients on occasion. Isopropyl alcohol, on the other hand, is pure alcohol with no additional components.
The two liquids have similar qualities because rubbing alcohol contains isopropyl alcohol, but they are not the same. Both, for example, have antibacterial and disinfecting effects.
Isopropyl alcohol, on the other hand, is too dangerous to use as a disinfectant for the skin or the home because it is undiluted. In industrial settings, isopropyl alcohol is used to make items, whereas rubbing alcohol is used at home.
The similarities and differences between isopropyl alcohol and rubbing alcohol will be discussed in this article. We’ll also go through how to disinfect using rubbing alcohol and the possible adverse effects.
Are they related?
No, rubbing alcohol and isopropyl alcohol are not the same thing.
Isopropyl alcohol is a colorless liquid with a musty, harsh odor that is pure alcohol. A bottle of isopropyl alcohol contains no other components.
Rubbing alcohol, on the other hand, contains isopropyl alcohol as well as additional components like water. Isopropyl alcohol makes over 70% of most rubbing alcohol brands.
Isopropyl alcohol is not to be confused with ethyl alcohol, which is found in beer, wine, and other alcoholic beverages.
Water is the other major component of rubbing alcohol. Other substances may be present, depending on the product.
Essential oils like wintergreen are used in several rubbing alcohols used to treat hurting muscles. Wintergreen essential oil contains methyl salicylate, a chemical that dilates small blood vessels in the skin. This can aid in the relief of aches and pains.
Similarities and differences
The concentration is the fundamental difference between isopropyl alcohol and rubbing alcohol. Isopropyl alcohol has a 100% concentration, whereas rubbing alcohol has a lower concentration due to the addition of water.
Aside from that, the two liquids are very similar. They have antimicrobial and antiseptic properties. When inhaled or swallowed, they are also combustible and poisonous.
Both products have risks associated with their use, however isopropyl alcohol is more harmful than rubbing alcohol since it is more concentrated.
Isopropyl alcohol and rubbing alcohol, despite their similarities, have multiple uses.
Isopropyl alcohol is used by manufacturers to make:
- window cleaners
- personal care products
Rubbing alcohol is commonly used as an antiseptic to clean cuts and scrapes at home, reducing the risk of infection. It could be found in a first-aid kit or medicine cupboard at home.
Individuals can use rubbing alcohol that includes wintergreen or methyl salicylate to assist reduce muscle aches caused by exertion. Disinfecting small household goods is another application.
Is one better than the other?
Isopropyl alcohol has stronger antibacterial effects because it is undiluted. This, however, makes it more dangerous, and it is not suitable for use at home.
Isopropyl alcohol should not be applied to the skin for any purpose since it can enter the bloodstream and cause toxicity. When it comes to first aid and sterilizing small objects or surfaces, rubbing alcohol is preferable.
How to use
There are various ways to use rubbing alcohol listed below.
Disinfecting items in the home
Rub alcohol can be used to disinfect thermometers and commonly handled items such as computer keyboards and phones in the home.
To begin, make sure the space is well-ventilated. After that, soak cotton wool in rubbing alcohol and use it to clean the surface or object.
Disinfecting cuts and scrapes
To disinfect minor wounds and scrapes, people can use rubbing alcohol that includes 70% isopropyl alcohol. Follow these steps to accomplish this:
- Ensure the room has good ventilation.
- Gently clean the skin around the cut with some water.
- Add a small amount of rubbing alcohol to a cotton pad and apply to the area. Allow it to dry.
- Cover with a sterile bandage, if necessary.
- Repeat this 1–3 times per day.
Rub alcohol should not be applied to a broad region of the body or near the eyes, and it should not be used for more than one week without visiting a doctor.
Relieving muscle aches due to exertion
Rubing alcohol containing 50% isopropyl alcohol and added wintergreen can be used to relieve muscle aches. Apply a small amount of rubbing alcohol to clean gauze or a cotton swab and gently rub the affected area. Alternatively, apply a small amount of the liquid to the skin and rub it in with your hands.
It’s important, once again, to ensure that the room is well ventilated. Avoid getting rubbing alcohol in your eyes or on your mucous membranes.
Side effects and risks
There are certain risks associated with using rubbing alcohol on the skin or in the home, including:
Some people’s skin may be irritated by rubbing alcohol. If this happens, people can wash the chemical away with soap and water.
Because pure isopropyl alcohol can pass through the skin and cause poisoning, people should never put it on their skin. If someone receives isopropyl alcohol on their skin, they should:
Isopropyl and rubbing alcohol are both extremely flammable. When not in use, keep them away from open flames and close the top carefully.
Damage to the eyes
Rub alcohol should not be used near the eyes or other sensitive regions. Exposure to the sun can cause the eyes and result in significant injury.
If the product goes into your eye, flush it with clean water for at least 15 minutes, lifting your lower and upper lids to ensure that all of the alcohol is washed out. If you wear contact lenses, you should take them out first.
Both isopropyl and rubbing alcohol are toxic. Whether a person inhales the vapors or drinks the liquid, this is true. Neither chemical can be used to replace alcohol in drinks, and even a single sip can cause the following side effects:
- Depression of the brain and spinal cord can result in the following symptoms:
- inebriation, which means behavior that resembles intoxication from alcoholic beverages
- Irritation of the gastrointestinal tract, which can cause:
- abdominal pain
- vomiting blood
- Intoxication, which leads to:
- low body temperature
- low blood pressure
- cardiovascular collapse
Ingestion of wintergreen with methyl salicylate is also dangerous. Medicines and alcohol should always be kept out of reach of youngsters in a closed cabinet.
Isopropyl alcohol has been diluted to make rubbing alcohol. Other components, such as wintergreen essential oil, are sometimes included. While isopropyl alcohol has a concentration of 100%, many types of rubbing alcohol have a concentration of 70%.
Because of the difference in strength, rubbing alcohol is safe to use at home to disinfect objects and skin scrapes. However, it is only safe if the user follows the manufacturer’s instructions and takes precautions such as operating it in a well-ventilated location and avoiding eye contact.
What is ableism and how does it affect people?
Bias, prejudice, and discrimination towards persons with impairments are referred to as ableism. It is based on the assumption that handicapped individuals are less valued than non-disabled persons.
Differences in ability are a common occurrence in human life. In the United States, just under one in every five people has a handicap, and people with disabilities are the world’s most marginalized group, accounting for 15% of the global population. Despite this, one of the most widespread kinds of discrimination is ableism.
To comprehend ableism, one must first comprehend the concept of disability.
The medical model and the social model of impairment are the two types of disability. Disability is treated as a medical issue in the medical model. Disability is viewed as a notion produced by humans in the social model.
This isn’t to say that there aren’t any limitations. According to the social model, the notion of “disability” is context-dependent. In a culture that prioritizes a neurotypical style of thinking, autism spectrum disorder (ASD) may be a handicap, but it may not be in a world that appreciates and recognizes neurodiversity.
In every context, there is no unique collection of features that makes someone incapacitated. This emphasizes the fact that a person’s perception of “disability” is often influenced by the culture in which they live.
What exactly is ableism?
Ableism maintains a negative perception of disability. Being non-disabled is shown as the ideal, whereas disability is portrayed as a fault or anomaly. It is a sort of systematic oppression that affects both handicapped persons and those who are perceived to be impaired by others. Ableism can also have an indirect impact on carers.
People, like other types of oppression, are not always aware that they are thinking or acting in an ableist manner. This is because individuals, whether consciously or unconsciously, pick up on ableism from others. Implicit bias refers to bias that a person is ignorant of.
It is highly typical to have implicit bias against persons with impairments. According to a previous research, 76 percent of respondents displayed an unconscious prejudice in favor of persons who were not disabled. Respondents with impairments were included in this group.
Among the implicit and explicit biases examined by the researchers, ableism was among the most prevalent and powerful, exceeding gender, color, weight, and sexuality. It was only second to ageism in terms of prevalence.
Types of ableism
Ableism presents itself in a variety of ways. It may be found at numerous levels of society, including:
- Institutional level: Institutions are affected by this type of ableism. Medical ableism, for example, is based on the belief that any form of handicap is a problem that has to be solved. When this is incorporated into medical education and policy, it has ramifications for the whole healthcare system as well as patient well-being.
- Interpersonal level: This is the type of ableism that occurs in social situations and relationships. A parent of a disabled kid, for example, would strive to “fix” the impairment rather than accept it.
- Internal level: Internalized ableism occurs when a person, whether consciously or subconsciously, believes and applies the negative messages they receive about disability to themselves. A person may believe, for example, that disability accommodations are a privilege rather than a right.
Ableism also takes on different forms, including:
- Hostile ableism: Bullying, abuse, and violence are examples of overtly antagonistic behaviors or policies.
- Benevolent ableism: People with impairments are viewed as weak, fragile, or in need of rescue under this kind of ableism. This is condescending and diminishes the individual’s autonomy and uniqueness, perpetuating an uneven power dynamic.
- Ambivalent ableism: This is a mix of ableism that is both hostile and beneficial. A person could, for example, begin a social engagement by being condescending and then become aggressive if the other person objects to their behavior.
It’s crucial to remember that ableism has varying effects on people depending on how others view their disability. For example, how people treat persons with apparent disabilities differs from how they treat those with invisible disabilities.
Other things that may have an impact include:
- whether an impairment is physical or cognitive
- whether or not a condition is well known to the general public
- whether it has a history of being stigmatized, as this can lead to the development of specific myths, stereotypes, or slurs
Examples of ableism
Ableism manifests itself in a variety of ways, from overt hostility and aggression to less obvious everyday encounters. The following are a few examples:
- asking someone what is “wrong” with them
- saying, “You do not look disabled,” as though this is a compliment
- viewing a person with a disability as inspirational for doing typical things, such as having a career
- assuming a physical disability is a product of laziness or lack of exercise
- using public facilities that are for people with disabilities, such as parking spaces or toilets
- questioning whether a person’s disability is real
On a larger scale, some examples of ableism include:
- Ableist language: In common discourse, there are several examples of ableism. Originally, terms like “dumb” and “lame” were meant to indicate disabilities, but they are now commonly used as synonyms for “stupid” or “bad.” People also misuse language in a way that diminishes the severity of situations. For example, a person may say, “I am so OCD.”
- Inaccessible design: Ableism is defined as the design of buildings, public places, products, and technology that cater solely to non-disabled individuals. This includes websites without a text enlargement function, structures without a wheelchair ramp, and walkways with impediments that make walking more difficult.
- Education discrimination: Examples of ableism in education include schools refusing to offer disability modifications, failing to comprehend a disability, and attempting to “educate” a kid not to have their handicap. For example, rather of adapting their teaching methods, a teacher can reprimand a dyslexic student.
- Employment discrimination: Employers may be prejudiced towards people with disabilities because they believe they are less productive. They may also refuse to provide handicap concessions to current workers or ignore workplace bullying.
Ableism and health
Here are a few examples of how ableism impacts health and healthcare.
Barriers to care
Some doctors believe that having a handicap will always result in a bad quality of life. This is predicated on the belief that a person’s quality of life can only be great if they are not impaired. It may also be linked to the concept that not being handicapped makes one’s life more valuable.
This prejudice has major ramifications. It can lead medical practitioners to dismiss their patients’ lived experiences, mistakenly attribute new symptoms to a person’s incapacity, or withdraw medical assistance in the idea that nothing they do would help. It can result in a lack of access to healthcare, as well as preventable sickness and death.
Disregard for peoples’ lives
Ableism can lead to individuals prioritizing the health and independence of non-disabled persons over the health and independence of handicapped people.
During the COVID-19 pandemic, for example, some individuals refused to wear masks to prevent the illness from spreading, despite the fact that older adults and persons with specific long-term ailments were at greater risk.
This demonstrates a flagrant disdain for the lives of those most vulnerable to COVID-19, particularly the elderly and those with chronic conditions, who are more likely to have one.
Because of the failure to restrict the spread of COVID-19, persons with disabilities have had to spend more time indoors. Some people have had to cancel medical appointments, have been unable to receive caregiver services, or have been removed off COVID-19 vaccine priority lists.
Doctors have a long history of using force to limit the movements of patients with mental health and developmental disabilities. Physical constraint is still used in educational and healthcare settings in the United States.
Restraint is frequently used to prevent individuals from injuring themselves or others, but it is also used by certain organizations to prevent property damage, manage behavior, or punish rule-breaking. People with neurological or developmental disorders, particularly youngsters, are more likely to take it.
According to a report, dozens of people in the United States died as a result of physical restraint in the 1990s and 2000s. Many of the youngsters have special needs.
Eugenics is the practice or belief in selective breeding to eliminate “undesirable” features in humans. In the early twentieth century, it was a popular notion among scientists, and it was responsible for numerous mass sterilization initiatives across the United States. It also influenced Nazi Germany’s policy and, ultimately, the Holocaust.
The impact of eugenics may still be seen in the medical field. Programs persisted into the twenty-first century in certain cases, and many survivors are still living. The survivors and their families are still dealing with the emotional and physical effects of the programs.
New technologies, such as genetic testing and engineering, are also allowing people to prevent or “edit out” genetic conditions that might cause disability. Some worry that this might lead to a modern-day kind of eugenics.
What effect does ableism have?
Everyone is affected by ableism. It influences how individuals think about physical and mental differences that can occur at any moment during one’s life. It also has a negative impact on society as a whole because:
- reducing access to transport, education, and the internet
- increasing levels of unemployment
- increasing poverty
- fueling bullying, harassment, and violence
- causing unnecessary institutionalization
What exactly is anti-ableism?
Anti-ableism entails fighting actively to eliminate ableism. It all starts with acknowledging that ableism exists, that it is harmful, and that non-disabled people gain from it. This is referred to as privilege.
Non-disabled persons do not have to consider accessibility or be concerned about ableist discrimination. Others may be more willing to appreciate and elevate non-disabled persons to positions of authority. This privilege can be used by an individual or a group of individuals to assist others.
Anti-ableism can be practiced in a variety of ways, including:
- learning about disability — what it means and how it affects people
- learning about ableism, ableist stereotypes, and the history of disability rights activism
- listening to people with disabilities share their experiences
- challenging ableism as it happens, for example, by correcting a myth or stopping bullying
- giving people with disabilities a platform, or “passing the mic,” instead of speaking for them
- advocating for accessibility and inclusivity
- enacting policies or laws that counter ableism
Prejudice and discrimination towards persons with impairments is known as ableism. It is predicated on the assumption that being non-disabled is the norm, and that everything outside of that is aberrant or undesirable. It may take various forms, ranging from subtle comments to outright hostility.
Ableism in healthcare can have an impact on interactions with physicians and other professionals, as well as healthcare policy and outcomes. The belief that handicapped persons have less worth or live lives of inferior quality contributes to harmful practices that still exist today.
Anti-ableism is a strategy that anybody may use to combat ableism.