-Anju Jooby
OVERVIEW:
Huntington's disease is a rare, hereditary disease that triggers the gradual breakdown (degeneration) of brain nerve cells. Huntington's disease has a wide ranging effect on a person's physical capacities, resulting in movement, perception (cognitive), and psychiatric conditions.
Huntington's disease symptoms can occur at any age, but they are most common in people in their 30s or 40s. If the disorder appears before the age of 20, it is referred to as juvenile Huntington's disease. When Huntington's disease progresses early, the symptoms are very different, and the disease can progress more quickly. There are medications available to deal with the effects of Huntington's disease. However, therapies cannot avoid the condition's physical, emotional, and behavioral deterioration.
SYMPTOMS :
Huntington's disease typically triggers movement, cognitive, and psychological disabilities, as well as a wide range of signs and symptoms. The symptoms occur first differs significantly from person to person. Some symptoms tend to be more dominant or have a greater impact on functional abilities, although this can change over the course of the disease.
MOVEMENT DISORDERS :
The movement disorders associated with Huntington's disease may include both involuntary and voluntary movement issues, such as:
• Unintentional jerking or writhing motions (chorea)
• Muscle issues, such as rigidity or contracture (dystonia)
• Slow or irregular eye movements
• Gait, stance, and balance issues
• Speech or swallowing difficulties
Impairments in voluntary movements, rather than involuntary movements, can have a greater effect on a person's ability to function, conduct everyday tasks, interact, and remain self-sufficient.
COGNITIVE DISORDERS :
The following cognitive impairments are often associated with Huntington's disease:
• Having trouble planning, prioritizing, or concentrating on tasks.
• Lack of versatility or a proclivity to become fixated on a single thought, actions, or action (perseveration).
• Instability of impulse control, which can lead to outbursts, behaving without thought, and sexual promiscuity.
• Inadequate knowledge of one's own actions and abilities.
• Slow processing of thoughts or "finding" words. Difficulty in acquiring new knowledge.
PSYCHIATRIC DISORDERS :
Depression is the most common mental condition associated with Huntington's disease. This isn't just a reaction to being diagnosed with Huntington's disease. Instead, depression tends to be caused by brain damage and resulting changes in brain function. Among the signs and symptoms are:
• Irritability, depression, or apathy are both examples of negative emotions.
• Withdrawal from social activities
• Sleeplessness
• Fatigue and energy deficiency
• Thoughts of death, dying, or suicide occur often.
• Obsessive-compulsive disorder is characterized by recurring, obsessive thoughts and repetitive actions.
• Mania is characterized by elevated mood, hyperactivity, impulsive behavior, and inflated self-esteem.
• Bipolar disorder is characterized by alternating bouts of depression and mania.
SYMPTOMS OF JUVENILE HUNTINGTONS’S DISEASE :
The onset and development of Huntington's disease in children can vary slightly from that in adults. Among the issues that often arise early in the course of the disease are:
Behavioral shifts:
• Paying attention is difficult.
• A substantial decrease in overall school performance has occurred in a short period of time.
• Problems with behavior
Physical alterations :
• Muscles that are contracted and rigid, affecting gait (especially in young children)
• Tremors are involuntary motions that occur in a person's hands or feet. Falls or clumsiness on a regular basis Seizures are a form of seizures.
WHEN TO SEE DOCTOR :
If you note any changes in your movements, emotional condition, or mental capacity, consult your doctor. A variety of conditions can cause the signs and symptoms of Huntington's disease. As a result, it's important to get an accurate diagnosis as soon as possible.
CAUSES :
Huntington's disease is caused by a single inherited gene mutation. Huntington's disease is an autosomal dominant disorder, which means that only one copy of the defective gene is required for the disorder to manifest.
With the exception of genes on the sex chromosomes, an individual inherits two copies of each gene, one from each parent. A parent with a defective gene can pass on either the defective or healthy copy of the gene to their children. As a result, each child in the family has a 50 percent risk of inheriting the gene that causes the genetic condition.
PREVENTION :
People who have a confirmed family history of Huntington's disease are understandably worried about passing the Huntington gene on to their children. These individuals can think about genetic testing and family planning options.
Meeting with a genetic counsellor may be beneficial if an at-risk parent is considering genetic testing.
A genetic counsellor will go through the risks of a positive test outcome, which indicates that the parent will inherit the disease. Couples would also need to decide whether to have children or consider options, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.
In vitro fertilization and preimplantation genetic diagnosis are two other options for couples. In this procedure, eggs are extracted from the ovaries and fertilized in a laboratory with the father's sperm. The embryos are screened for the existence of the Huntington gene, and only those that test negative are implanted in the mother's uterus.
For more, visit: https://pubmed.ncbi.nlm.nih.gov/21171977/#:~:text=Huntington%20disease%20(HD)%20is%20a,symptoms%20is%2030%2D50%20years.
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