Introduction:
A genetic condition known as Huntington’s disease (HD) causes the neurons in some areas of the brain to slowly degenerate and die. Huntington’s disease (HD), a brain disorder that affects the entire body and is caused by a dominantly inherited amplification of the CAG trinucleotide repeat in the Huntington’s gene on chromosome The illness targets different parts of the brain, including those involved in the regulation of voluntary (intentional) movement. Individuals with Huntington’s disease (HD) experience strange body postures, involuntary dance-like movements (chorea), and behavioural, emotional, cognitive, and personality issues. People with a history of this disease are more at risk of experiencing this brain disorder. this neurological condition that develops in mid-life and is passed down within households from successive generations.
Symptoms:
While the early symptoms of HD might vary, they commonly include behavioral changes, moderate clumsiness or difficulty with balance or mobility, and cognitive or psychiatric symptoms (problems with thinking or emotion).
Abnormal Eye Movements: Additional symptoms may include abnormal eye movements and tremors, or an involuntary back-and-forth movement in the person’s muscles. The syndrome may cause eye movements to appear early.
Difficulty in speaking:Speech problems and difficulties swallowing, eating, speaking, and especially walking are instances of physical abnormalities. People with HD may lose weight as a result of eating, swallowing, choking, and chest infections.
Other symptoms include fatigue, energy loss, seizures, and insomnia (inability to fall asleep). The individual will eventually be confined to bed or a wheelchair.
Causes:
HD is a genetic disorder. It is passed down from one parent to the next via a mutation, or change, in a certain gene. If one or both parents have the condition, each kid has a 50% chance of inheriting the copy of chromosome 4 that contains the HD mutation. If a child does not inherit the HD mutation, they will not develop the disease and will not be able to pass it on to future generations. Striking without a family history of HD is referred to as random HD. HD is caused by a mutation in the huntingtin protein gene. The anomaly causes cytosine, adenine, and guanine (CAG), the building components of DNA, to repeat considerably more frequently.
Diagnose:
Neurological and physical examinations: During neurological and physical examinations, reflexes, balance, mobility, muscle tone, hearing, walking, and mental state may all be reviewed. People with HD may be sent to professionals such as psychiatrists, genetic counsellors, clinical neuropsychologists, or speech pathologists for specialized management and/or diagnostic clarification. In this case, laboratory tests may be requested.
Diagnostic imaging: Because these changes can occur in other conditions, they do not always indicate HD. Even in the early stages of HD, a structural CT or MRI scan can produce normal results.
Genetic testing can assist determine a person’s risk of developing or passing on a genetic disease, as well as confirm or rule out a suspected hereditary ailment. Genetic testing allows for more accurate prediction.
Treatment:
There is presently no cure or way to slow the progression of Huntington’s disease. However, treatment and support can help lessen some of the issues it causes, such as depression medications, mood swings, and uncontrollable movements. Occupational therapy to aid with daily tasks People with this disease must opt for physiotherapy because the more you have control over your muscles, the less you will face the hurdles of HD. Family support is crucial in order to make patients realise that they have the right to a balanced life.
Conclusion:
Huntington’s disease (HD) causes neurons in certain parts of the brain to deteriorate and die gradually. irregular motions of the face, chest, feet, or fingers. These are chorea symptoms. When a person is nervous or distracted, their motions may become more apparent and dramatic; as HD worsens, the individual’s movements may become more pronounced and dramatic. In the long run, HD disease impacts people because it affects the brain, which is responsible for involuntary movement and cognitive function. The involuntary movement of the hands and legs is the most common symptom of this condition. People suffering with this disease are unable to walk properly, which means they are unable to manage their voluntary activities. This interferes with their day-to-day work. Family support is essential.
