- How old am I:
- Tone of my iris:
- I’ve got big hazel eyes but I use colored contact lenses
- What is the color of my hair:
- Short crisp red hair
- My figure type:
- My body features is quite chubby
This depiction has had implications for the treatment of patients with neuropsychiatric disease. This insight remains important today as patients with Huntington disease and their families continue to face stigmatization and prejudicial representation. Disclosure: Dr. Coon has nothing to disclose. Hassan has nothing to disclose. NOTE: All authors' disclosures must be entered and current in our database before comments can be posted.
It has a wide-ranging impact, affecting movement, thinking, and mood. It appears to be less common in people of Japanese, Chinese, and African descent, according to Genetics Home Reference. The first s normally appear between the ages of 30 and 50 years.
It is an inherited disease that from faulty genes. Toxic proteins collect in the brain and cause damage, leading to neurological symptoms. As the disease affects different parts of the brain, it impacts movement, behavior, and cognition.
It becomes harder to walk, think, reason, swallow, and talk. Eventually, the person will need full-time care. The complications are usually fatal. s and symptoms are most likely to appear between the ages of 30 and 50 years, but they can occur at any age.
Eventually, the disease or its complications can be fatal.
The key symptoms include :. The Adult Huntington woman of symptoms can vary between individuals. Some people will experience depression first and then changes in motor skills. Mood changes and unusual behavior are common early s. It can take time to reach a diagnosis. However, most people do these from time to time. Eventually they may become slower as the muscles become more rigid. Eventually, the person will no longer be able to walk or talk, and they will need full nursing care. However, they will usually understand most of what they hear and will be aware of friends and family members.
A normal copy of the gene produces huntingtin, a protein. The faulty gene is larger than it should be. If it repeats 40 times or more, symptoms are likely. This change in a larger form of the huntingtin protein, which is toxic. As it accumulates in the brain, it damages certain brain cells.
Some brain cells are sensitive to the larger form of huntingtin, especially those related to movement, thinking, and memory.
It undermines their function and eventually destroys them. Scientists are not sure exactly how this happens. This means a person can have it if they inherit only one copy of the faulty gene, from either their mother or their father.
A person with the gene has one good copy of the gene and one faulty copy. Any offspring will inherit either the good copy or the faulty one. The child who inherits a faulty copy will.
Late onset huntington disease: clinical and genetic characteristics of 34 cases
It can affect several generations. A person who does not inherit the faulty gene will not develop the disease and cannot pass it on to their children.
Treatment cannot reverse its progression or slow it down. Side effects include depression and suicidal thoughts or actions. If a person has s of depression or mood changes when taking this drug, they should contact their doctor at once. Tretrabenazine is not suitable for anyone who already has a diagnosis of depression, especially with suicidal thoughts. Lithium may help with extreme emotions and mood changes.
Speech therapy can help people find ways to express words and phrases and communicate more effectively. A physical therapist can help improve muscle strength and flexibility, improving balance and reducing the risk of falling.
An occupational therapist can help develop strategies for managing concentration and memory problems. They can also advise on making the home safer. The doctor will examine the person and ask about family and medical history, and symptoms, such as recent emotional changes. These can identify changes in brain structure and help rule out other disorders. Most people with this condition will live for 10—30 years after a diagnosis.
It may be fatal within 10 years of a diagnosis. There is currently no cure, but treatment can help people manage the condition and improve their quality of life. In the future, scientists hope that gene therapy will find a solution to this disease. One possible strategy is to use molecules known as synthetic small interfering RNAs siRNAs to suppress protein production from the faulty gene.
This would stop the toxic Huntingtin protein from collecting and causing symptoms.
What you need to know about huntington disease
However, the challenge is how to deliver the siRNAs to the appropriate brain cells, so that they can be effective. Most of the traces of the damaging protein had gone, and the nerve cells showed s of healing themselves. Anyone with a family history of the disease can ask their doctor about genetic testing to find out whether or not they carry the defective gene. Some people prefer to find out if they have the gene, and if they are likely to develop symptoms, while other would rather not know. A genetic counselor can help with making the decision. If a couple wish to haveand one parent has the faulty gene, it is possible to have in-vitro fertilization IVF treatment.
The embryo is then genetically tested in a laboratory and is only implanted into the woman if it does not have the faulty gene.
A fetus can also undergo genetic testing during gestation, if there is a family history of the disease. This can be done using chorionic villus sample CVS at 10—11 weeksor through an amniocentesis at 14—18 weeks. Amyotrophic lateral sclerosis ALSor Lou Gehrig's disease, is a fatal degenerative neurological condition that causes progressive weakening.
Motor neuron diseases MNDs affect the nerves that enable movement, causing the muscles in the body to deteriorate. Eventually, it can become hard…. Muscular dystrophy is one of a group of genetic diseases characterized by progressive weakness and degeneration of the muscles that control movement…. Sydenham Chorea is hood neurological disorder that is a complication of rheumatic fever.
Learn more about what it is and its symptoms, here. Here we discuss the condition in depth.
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