Huntington’s disease – causes, symptoms, treatment, prognosis

Proven content

Huntington’s disease, or Huntington’s disease, is a disease that mankind has lived with for centuries. Characteristic of this disease are uncontrolled movements, similar to dancing, as well as wriggling and twisting. Read what this mysterious disease manifests itself in, what its symptoms are and whether it can be treated.

Huntington’s disease – what is it?

Huntington’s disease (HD) is a progressive brain disorder caused by a single defective gene on chromosome 4 – one of the 23 human chromosomes that contain a person’s entire genetic code.

This defect is “dominant”, meaning anyone who inherits it from a parent with Huntington’s disease will eventually get the disease. The disorder is named after George Huntington, the doctor who first described it in the late XNUMXs.

The defective gene codes for a pattern in a protein called huntingtin. The normal function of this protein is not yet known, but it is called ‘huntingtin’ because scientists have identified the defective form as the cause of Huntington’s disease. The defective huntingtin protein leads to changes in the brain that cause abnormal involuntary movements, a severe decline in thinking and reasoning, and irritability, depression, and other mood changes.

Huntington’s disease affects about 3 to 7 in 100 people of European descent. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent.

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Huntington’s disease – causes

The DNA error that causes Huntington’s disease is found in a gene called huntingtin. This gene was discovered in 1993. Everyone has the huntingtin gene, but only those who inherit the bug known as the HD mutation will develop HD and risk passing it on to their children.

Genes are made up of the nucleotide “letters” A, G, C, and T that make up a code that is read in groups of three. HD is caused by the series of CAG letters in the huntingtin gene that repeats over and over, too many times… CAGCAGGCAGCAGCAG. This is known as CAG repeat expansion. In the huntingtin gene, most people have around 20 CAG repeats, but people with HD have around 40 or more. Anyone with a CAG repeat expansion in the HD gene will eventually get sick, and each of their children has a 50% chance of developing HD.

Our genes are like an instruction to make proteins, the machines that control everything in our bodies. The huntingtin gene (DNA) contains instructions that are copied into the biological message (RNA) that makes up the huntingtin protein. The huntingtin protein is very large and seems to have many functions, especially since the brain develops before birth, but it’s not fully understood.

We know that the extra CAG repeats in people with HD make huntingtin extremely long and hard to maintain, making it difficult for it to do its job. For many years, this “mutant” huntingtin protein forms clumps in brain cells, causing them to become damaged and die. The most sensitive part of the brain in HD controls movement, mood, and memory.

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Huntington’s disease – symptoms

The symptoms of Huntington’s disease can vary greatly from person to person, but typically include personality changes, mood swings, depression, forgetfulness and judgmental disturbances, unsteady gait and involuntary movements (chorea), slurred speech, difficulty swallowing, and significant weight loss.

Most people with Huntington’s disease have problems with thinking, behavior and movements. Symptoms typically worsen over 10 to 25 years and affect your ability to reason, walk, and speak. At first, a person with Huntington’s disease or their friends and family may find it difficult to plan and remember. Mood changes such as depression, anxiety, irritability, and anger can develop. Most people with Huntington’s disease become ‘restless’, develop facial and limb movements called chorea that they cannot control.

Due to uncontrolled movements (chorea), a person with Huntington’s disease can lose a lot of weight (without losing weight) and may have trouble walking, balance and safe movement. Eventually, they will lose their ability to work, drive and manage tasks at home and may qualify for disability benefits.

Over time, a person will have difficulty speaking and swallowing, and their movements will become slow and stiff. People with advanced Huntington’s disease need full-time care to help with their daily activities. People with Huntington’s disease very often develop pneumonia, heart failure, or other serious conditions.

Here’s a classification of the symptoms of Huntington’s disease by early, middle, and late stage:

Early Stage Huntington’s Disease Symptoms:

1. behavioral disorders,
2. clumsiness,
3. bad mood,
4. irritability,
5. paranoia,
6. apathy,
7. anxiety,
8. hallucinations,
9. abnormal eye movements
10. depression,
11. impaired ability to detect odors.

Middle Stage of Huntington’s Disease Symptoms:

1. dystonia,
2. involuntary movements
3. trouble with balance and walking,
4. chorea with twisting and twisting movements,
5. unstable gait
6. slow response time,
7. general weakness,
8. weight loss
9. speech difficulties.

Late stage Huntington’s disease symptoms:

1. stiffness (constant muscle tension)
2. bradykinesia (difficulty initiating and continuing movements)
3. severe chorea,
4. serious weight loss,
5. inability to speak
6. inability to walk
7. swallowing problems
8. inability to take care of yourself.

Huntington’s disease – diagnosis

Making a diagnosis is not always easy. Early psychological symptoms are not specific to Huntington’s disease. They can be signs of another illness, such as psychosis, alcoholism, or bipolar disorder, or no disease at all. Given the rarity of Huntington’s disease, signs of chorea and other abnormal movements that are relatively mild may not be recognized at first glance.

Huntington’s disease – prognosis

Huntington’s disease (HD) is a progressive disease, eventually leading to disability and death (usually due to underlying disease or infection). However, this disease affects everyone differently – the age of onset, specific symptoms, and the rate of progression vary for each person with the disease.

While the symptoms of Huntington’s disease are well-characterized, their progression (especially in the early and mid-stages) remains unpredictable. With the late-stage HD approach, those affected have difficulty speaking and losing weight. In the late stage, affected individuals lose control of their bowels and bladder.

The duration of the disease (from onset to death) varies greatly, averaging around 19 years. Most people with HD live 10-25 years from the onset of symptoms. The average age of death varies from 51 to 57 years, but the range may be wider. The CAG repeat length is the most important factor in determining the age of onset of HD. However, there is still a lot of volatility. Both genetic and environmental factors play a role in the age of onset in people with the mutation.

Huntington’s disease – treatment

There is currently no cure or treatment that can stop, slow or reverse the progression of the disease. However, there are many treatments and interventions that can help you manage the symptoms of HD. A neurologist or psychiatrist experienced in HD can prescribe medications to relieve anxiety and depression, to help with problematic behavior, and to calm uncontrolled movements.

A psychologist or social worker can provide individual or group counseling. Physiotherapists and occupational therapists can work with patients and families to develop strength, move safely, and adapt the home environment and activities to the patient’s needs. Speech pathologists and nutritionists can help you communicate, eat and swallow safely, and combat weight loss.

Social and environmental support is an important part of caring for someone with Huntington’s disease. Family, friends and loved ones often take over many of the HD person’s old responsibilities and help with daily activities and routine caring activities.