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Huntington's Disease
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Huntington's disease is a degenerative disease of the nerves and brain. It is progressive and ultimately leads to death in all cases. Sufferers experience uncontrolled body movements, mental deterioration and emotional problems. Huntington's disease is inherited from your parents. You get it from one parent who does not know they have the disease at the time they have the condition. Its onset is in a person's thirties or more. In rare cases, it can begin in childhood.
The signs and symptoms of Huntington's disease include symptoms related to personality, with changes in personality like irritability, depression or anger. There is also a progressive cognitive decline such that the individual cannot make decisions, cannot learn new information, and cannot remember things. Balance can be affected and the individual may appear clumsy. There can be grimacing or other facial tics and movements.
Later on in the course of the disease, you can expect chorea, which is a movement disorder with abnormal body movements. Balance and coordination are extremely poor and there are rapid, jerky eye movements. The speech can be slurred or otherwise impaired and swallowing can be difficult. There is eventually dementia that is similar to other types of dementia. Muscles become rigid and there are tremors of the body. Seizures are possible. It takes about 10 to 30 years from the onset of the symptoms until death occurs from advanced disease.
Genetic testing is available for Huntington's disease so you may want to have a talk with your doctor to be tested before you have children or if you have a parent with Huntington's disease. Being tested is controversial because knowing you are positive for Huntington's disease can be painful and it may affect your ability to get health insurance. A genetic counselor can help you decide if you want to be tested or not. Your chances of having Huntington's disease are 50:50 with one parent who has the disease. It is an autosomal dominant disease that involves a change in just one gene. If you have a child that does not inherit the disease, he or she cannot pass the gene onto their offspring and the disease is halted in that line of inheritance. If you inherit the gene, you have a 100 percent chance of getting Huntington's chorea. In rare cases, Huntington's disease can be inherited as a gene mutation with no family history of prior Huntington's disease.
The cause of Huntington's symptoms appears to be related to the amount and location of cholesterol in the brain. Cholesterol disrupts the motor and cognitive cells in the brain so that symptoms appear. Hopefully, scientists will find out a way to stop this cholesterol disruption so that the disease can be treated.
In evaluating the possibility of Huntington's disease, the doctor will obtain your personal and family history. A physical exam, including a mental exam, can be done to see if any of the symptoms of Huntington's disease are present. A psychiatric evaluation may be necessary and a blood test can be done to see if the genetic mutation consistent with Huntington's disease is present. CT scanning or MRI scanning can show changes in the brain consistent with Huntington's disease. Such testing can rule out other causes of your symptoms.
There is no cure for Huntington's disease but there are medications that can keep you healthy enough to be in society before entering a nursing home or hospital. One medication that seems to help is called tetrabenazine. It is specifically designed to treat Huntington's chorea. It decreases the jerking motions often seen in mid to late disease. It increases the dopamine level in the brain. It seems to increase depression and suicidality, however. Klonopin and antipsychotic medication help control hallucinations and violent outbursts. They may, however, increase rigidity and stiffness seen in the disease. Antidepressants of various varieties can control the depression or OCD symptoms seen in early disease. Lithium can be used to control mood swings.
Huntington's disease patients often undergo physical, occupational and speech therapy. They help the individual to function better at home and to get around without so much difficulty. Speech therapy helps the individual learn to express their thoughts in a clear and concise manner.
There are many experimental treatments available for Huntington's disease. Stem cell research is being looked at with cells transplanted into the brain. More research is necessary to see if these treatments can ultimately provide a cure or a longer, healthier life for Huntington's patients.