Huntington's Disease, more commonly known as "Huntington's Chorea," is a neurodegenerative disease that is usually inherited. Early symptoms of the disease often include subtle issues with mood, cognition, and coordination. The final symptoms are often a general lack of coordination and an unsteady gait. It is also a basal ganglia disease, causing hyperkinetic movement disorder called chorea.
Huntington's disease is a neurological disorder in which certain parts of the brain stop producing enough dopamine. This leads to mood changes, loss of intellectual abilities and uncontrollable movements.
Huntington’s disease has 2 subtypes:
Adult-onset Huntington’s disease: Adult-onset Huntington’s disease is the most common form of Huntington's disease. The symptoms typically develop in people in their mid-30s to 40s.
Early-onset Huntington’s disease. Rarely, do children experience this disease before adolescence. Symptoms can include difficulties with schoolwork and motor movements that are similar to those of Parkinson's Disease.
Huntington’s disease symptoms typically start to show up around middle age. The signs of juvenile Huntington's disease (JHD) however, appear in early childhood. Children may exhibit early symptoms such as stiffness and seizures in addition to the adult disease's symptoms. The condition is typically passed along to children with Juvenile Huntington’s Disease (JHD) from their fathers.
In Huntington's disease, misshaped proteins kill neurons (brain cells). They often start by attacking the basal ganglia, a region of the brain in charge of controlling your motions. The disease also affects the cortex of the brain (surface of the brain). This area of the brain aids with memory, thought, and decision-making.
Chorea, or unintentional jerks or twists, is one of the first physical signs of Huntington’s disease. Hand, finger, and cheek muscles are typically the first to be impacted by chorea. Later, it causes uncontrollable movement in your torso, legs, and arms. Chorea can make it more difficult to walk, talk, and eat. Additionally, it might make it harder for you to carry out regular tasks like driving.
Dementia can be brought on by Huntington’s disease in its later stages. Memory loss and personality alterations are consequences of brain function loss.
Your brain is affected differently early on in the disease. You could struggle to multitask or complete tasks that require several steps. Additionally, it could be challenging to plan or solve problems right once after Huntington's disease has started.
Huntington's disease is caused by a single gene abnormality. It is regarded as an autosomal dominant condition. This suggests that the disease can be caused by just one copy of the faulty gene. You have a 50% chance of acquiring this genetic flaw if one of your parents does. You can also entrust it to your offspring.
Huntington's disease is brought on by a particular genetic mutation that differs from many other mutations. The gene does not contain a substitution or a missing region. There is a copying mistake instead. Too many copies of a gene's region are present. Every generation sees an overall increase in the quantity of duplicate copies.
In general, individuals with a higher number of repeats experience signs of Huntington's disease earlier. Furthermore, as there are more repeats, the disease advances more quickly.
Younger individuals may experience a different start and progression of Huntington's disease than adults. The following issues frequently surface early in the course of the disease:
Behavioral changes
Physical changes
A significant factor in determining the diagnosis of Huntington's disease is family history. However, a number of clinical and laboratory tests can be carried out to help with the diagnosis.
Neurological tests
A neurologist will do tests to check your:
Brain function and imaging tests
You may require an electroencephalogram if you've experienced seizures (EEG). Your brain's electrical activity is assessed throughout this exam.
Tests using brain imaging can also be used to identify structural changes in your brain.
Psychiatric tests
You can be asked to participate in a mental evaluation by your doctor. Your coping mechanisms, emotional state, and behavioural patterns are examined throughout this assessment. A psychiatrist will also search for indicators of thinking impairment.
To discover if drugs could be the cause of your symptoms, you might be tested for substance abuse.
Genetic testing
Your doctor might advise genetic testing if you experience many Huntington's disease symptoms. This disease can be diagnosed with certainty with a genetic test.
You might also use genetic testing to decide if you want to start a family. Some Huntington's disease sufferers may not want to take the chance of spreading the faulty gene to the next generation.
Medication
Some of the physical and psychological symptoms you're experiencing may be relieved by medications. As your disease worsens, different types and dosages of medication will be required.
Therapy
Your flexibility, balance, and coordination can all be enhanced with physical therapy. Your mobility will increase as a result of this training, and falls may be avoided.
Your daily activities can be evaluated by occupational therapy, and they can suggest tools to help with:
You might be able to talk clearly with the use of speech therapy. You will be taught alternative forms of communication if you are unable to talk. Speech therapists can assist with issues with eating and swallowing as well.
You can overcome emotional and mental issues through psychotherapy. You can also learn coping mechanisms from it.
The functional capacities of a person steadily deteriorate after the onset of Huntington's disease. The duration and rate of disease progression vary. Usually, it takes between 10 and 30 years from the onset of symptoms to death. In most cases, juvenile Huntington's disease causes death 10 years after the onset of symptoms.
The risk of suicide may be increased by the clinical depression linked to Huntington's disease. According to several studies, the risk of suicide is highest before a diagnosis is established and during the later stages of the disease, when the patient begins to lose their independence.
Huntington's disease patients eventually require help with all daily activities and personal care. By the end of the disease, the patient will probably be bedridden and mute. While some people with Huntington's disease won't recognise family members, most people with the disease are able to understand language and are aware of their friends and relatives.
Common causes of death include:
It seems sense that people who have a known family history of Huntington's disease worry about perhaps passing the gene to their future offspring. These people may consider genetic testing and family planning options.
It can be beneficial to consult with a genetic counsellor if a parent who is at risk is thinking about genetic testing. A genetic counsellor will discuss the risks that could arise if a test result indicates that a parent will get the illness. Couples will also have to decide whether they want to start a family or explore other options, like prenatal gene testing or in vitro fertilisation using donated sperm or eggs.
Additional possibilities for couples include preimplantation genetic testing and in vitro fertilisation. In this procedure, the eggs are taken out of the ovaries and fertilised in a lab using the father's sperm. Only those embryos that test negative for the Huntington gene are implanted in the mother's uterus after being tested for the existence of the gene.
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