About Huntington’s Disease
An inherited disorder called Huntington’s disease harms some brain nerve cells.
Movement, cognition (perception, awareness, thinking, judgment), and behavior can all be impacted by this brain damage, which gets worse over time.
Early symptoms can include personality changes, mood swings, restlessness, irritability, and altered behavior, though these are frequently disregarded and blamed on unrelated factors.
Study up on the characteristics of Huntington’s disease.
The involuntary movements linked to the condition can resemble jerky dancing, so Huntington’s disease was originally known as Huntington’s chorea (‘chorea’ is the Greek word for dancing). However, the term “disease” is now preferred because the condition involves much more than just abnormal movements.
Huntington’s disease is brought on by an inherited defective gene, but in about 3% of cases there is no family history of the disease, usually because the parents passed away when the child was still a young child.
Study up on the origins of Huntington’s disease.
Diagnosing :
If your general practitioner (GP) determines that you are showing signs of Huntington’s disease and that further evaluation of your symptoms is necessary, they will refer you to a specialist clinician (typically a neurologist).
In order to determine whether you have Huntington’s disease and to rule out other possible diagnoses, the specialist will inquire about your symptoms.
As Huntington’s disease can affect all of these, they may also test your speech, cognition, eye movements, balance, control, movement, and walking, among other physical abilities.
The diagnosis can be verified through genetic testing.
Learn more about the method used to identify Huntington’s disease.
Treating Huntington’s disease:
Huntington’s disease has no known treatment options, and neither can it be slowed down or reversed.
Treatments for Huntington’s disease aim to improve any mood disturbance; this is done to maintain skills used in daily living that can deteriorate over time and may put a strain on family and relationships as the condition progresses.
Therapies like occupational therapy and speech and language therapy can assist with communication and day-to-day living, while medication can help manage some symptoms like irritability or excessive movement.
Additionally, assistance is available for the family of a person with Huntington’s disease. This assistance may take the form of testing relatives who do not exhibit any symptoms of the condition to determine whether they are carriers of the gene or, in more severe cases, assistance in selecting an appropriate care facility.
Before a person with Huntington’s disease dies from it, it typically takes 10 to 25 years from the time it first manifests. In the later stages of the condition, the person will be completely dependent and require 24-hour nursing care.
A secondary cause of death is typically an infection, heart failure, or another condition.
Who’s affected by Huntington’s disease:
Huntington’s disease is an inherited condition that can affect both men and women, and symptoms typically begin to show in adulthood.
Only 5-10% of those who have Huntington’s disease experience a very early onset, and the pattern of symptoms may be different. Juvenile (children’s) Huntington’s disease manifests before the age of 20.
Huntington’s disease was once thought to affect 4-6 individuals per 100,000 people, but research conducted in the UK in 2012 discovered that the actual number of individuals with the condition was closer to 12 individuals per 100,000.
According to estimates, there are roughly twice as many people with the Huntington’s gene as those who have symptoms but have not yet been affected.
Features of Huntington’s disease:
Psychiatric issues, challenges with behavior, eating, communicating, and abnormal movements can all be clinical signs of Huntington’s disease.
Huntington’s disease symptoms can appear at virtually any age, but the majority of people experience symptoms between the ages of 35 and 55.
The signs and symptoms can vary from person to person, and there is no typical pattern; the condition typically progresses and gets worse for about 10 to 25 years, until the person eventually passes away.
Early symptoms like personality changes, mood swings, and unusual behavior are frequently initially disregarded and misdiagnosed.
Huntington’s disease patients sometimes aren’t aware of any issues they may be having.
Behavioral changes:
The first symptoms of Huntington’s disease are frequently behavioral changes, which can be the most upsetting.
- unfeeling and an inability to understand the needs of family members other than one’s own
- aggressive, ecstatic, depressed, apathetic, antisocial, and alternating periods of excitement
- difficulty managing complex situations and focusing on multiple tasks
- irritability and impulsiveness
Huntington’s disease affects the brain in such a way that a person with the condition may also lose interest in self-care and hygiene. This is not to say that they are lazy; rather, it’s just that they appear to lack drive, initiative, and concentration.
Psychiatric problems:
The symptoms of depression include a persistently depressed mood, low self-esteem, a lack of motivation or interest in activities, and feelings of hopelessness. Depression is common in people with Huntington’s disease and occurs as a result of the illness, not just as a reaction to the diagnosis.
Obsessive tendencies and issues similar to schizophrenia may also appear in a small number of people, though this is relatively uncommon.
According to studies, those who have Huntington’s disease are more likely to think about taking their own lives, especially in the weeks and months before their diagnosis, when the disease starts to become obvious and when they begin to lose their independence.
If you believe a loved one is suicidal, learn how to seek help.
Movement problems:
Early signs of Huntington’s disease include small, uncontrollable facial movements as well as jerking, flicking, or fidgety movements of the limbs and body, which can cause a person to lurch or stumble.
When the person is moving or resting (such as sitting in a chair or lying in bed), these characteristics are frequently first noticed.
However, over time this may change and in the advanced stages of the condition a person’s movements may become slow and their muscles more rigid. The uncontrollable movements will increase in frequency and intensity as the condition worsens.
Feeding problems
Despite having a healthy appetite, people with Huntington’s disease frequently experience weight loss. They may also have trouble eating because their mouth and throat muscles don’t function properly due to motor control loss, which can sometimes result in choking and reoccurring chest infections.
Swallowing is a problem, so choking on food and drink, especially thin drinks like water, can be a frequent problem. Loss of coordination can result in spilling or dropping food.
If swallowing is a problem, a speech and language therapist or dietitian may need to be consulted, and a feeding tube may need to be placed in some situations.
Causes of Huntington’s Disease:
A defective gene which runs in families is the cause of Huntington’s disease.
Genes and chromosomes:
We have two copies of every gene, so our chromosomes are in pairs. Genes are made up of DNA and packaged onto strands called chromosomes, which are responsible for creating every component of the human body and brain.
The defective gene that causes Huntington’s disease is located on chromosome number four, which has 46 chromosomes (23 pairs) and is present in 23 pairs of humans.
The faulty gene contains an abnormal region of so-called CAG repeats that is larger than normal and results in the production of a mutant form of huntingtin, which is different from the protein that is produced by the healthy copy of the gene.
The abnormal huntingtin impairs cell function and causes cell death in certain regions of the brain, particularly in the basal ganglia and portions of the cortex.
When the basal ganglia and cortex are damaged, it affects the way the brain regulates motivation, movement, and behavior.
Why some brain cells are more sensitive than others and how abnormal huntingtin affects them are still unknown.
Inheriting Huntington’s disease:
There is a 50:50 chance that a child will inherit one of the two Huntington’s disease genes from a parent who carries one healthy copy and one faulty copy of the gene, developing Huntington’s disease.
If the child inherits the abnormal gene, it is possible to predict when they will become ill, but only if the CAG repeat length is very long (>55).
Huntington’s disease is inherited in an “autosomal dominant” manner, which means that there is a 50% chance that the affected child will pass the defective gene on to any future offspring they may have.
The absence of a clear family history of Huntington’s disease occurs in about 3% of cases, which may be brought on by adoption, the early deaths of relatives who had the disease, or, in rare instances, a new gene expansion.
Diagnosing Huntington’s disease:
If your GP determines that further testing is necessary and you exhibit symptoms of Huntington’s disease, they will refer you to a physician with advanced training in the disease.
A neurologist, a medical professional who focuses on disorders of the brain and spinal cord, is one of the many specialists who work in Huntington’s disease management clinics, which are prevalent.
In order to determine whether you likely have Huntington’s disease and to rule out other conditions, the specialist will inquire about your symptoms, such as whether you’ve recently experienced emotional difficulties.
Additionally, they might test your walking, balance, thinking, eye movements, and chorea (fidgety or jerky movements), as well as examine you physically.
Confirming the Diagnosis:
This is especially true in cases where a person is unaware that the condition runs in their family and often begins to show symptoms of Huntington’s disease years before the condition is actually diagnosed.
Genetic testing can be done to confirm the diagnosis if you have Huntington’s disease and you are exhibiting symptoms, the condition is known to run in your family, or your doctor has a strong suspicion that you do.
It’s crucial to understand that the diagnosis is based on a combination of factors, including neurological examination, family history, and genetic testing. This is known as “premanifest Huntington’s disease,” and it’s possible to have the gene change and still be healthy.
Genetic test
If a child of a person with Huntington’s disease has the faulty gene, they will eventually develop Huntington’s disease, but it is impossible to predict when this will happen. After the age of 18, the child can undergo a genetic test to determine whether they have the faulty gene.
You can schedule a visit with a local genetic clinic through your general practitioner or neurologist, where you will first receive counseling before having blood drawn to determine whether you have inherited the problematic gene.
The test results might not be available for two to four weeks.
Brain scan
A brain scan may be performed at any stage of the illness if a physician is concerned there may be additional issues in addition to Huntington’s disease, even in the early stages of the illness when there may not be any obvious changes on the scan.
Homeopathic Treatment of Huntington’s Disease
Ignatia, Mygale, met zinc, and caustic
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