Cardiovascular

What Is Huntington's Disease? What Causes Huntington's Disease?

chance of inheriting the faulty gene. Doctors and scientists refer to the disease as an autosomal dominant disorder - only one copy of the faulty gene, inherited from either the mother or the father, is necessary to produce the disease. A child who does not inherit the faulty gene will not develop HD and cannot pass it on to his/her children. A child who inherits the faulty gene will develop HD if he/she reaches the age when symptoms are due to emerge. 3% of people with Huntington"s disease apparently have no family history of it. Some of them were adopted and never knew whether their parents had it. Others may have had a parent with the faulty gene who died from something else before reaching the age when symptoms would have emerged. In some cases there may be a new error in the gene - a mutation (it has to start somewhere). British scientists found high levels of an inflammation-causing protein called IL-6 in the blood of affected individuals more than a decade before they were expected to develop the nervous system symptoms of the Huntington"s disease. It has always been presumed that brain deposits of the mutant protein that causes the disease, called huntingtin, lured an overactive immune response. But since the immune cells that make IL-6 also make huntingtin, it"s possible that mutant huntingtin might wrongly set these cells on attack mode throughout the body. Early intervention strategies to suppress the production of IL-6 might thus stave off brain destruction. How is Huntington"s disease diagnosed? German scientists discovered that profound changes (comparable to those seen in late-stage HD) actually occur well before any disease symptoms show up, and most of the changes are confined to a specific stage during disease progression. The doctor will examine the patient; ask about family history, personal medical history, and recent emotional and intellectual changes. The doctor may also recommend a psychiatric evaluation. Sometimes doctors order imaging tests to identify any changes in the patient"s brain structure, as well as to rule out other disorders. This may include either a CT (computer tomography) scan or an MRI (magnetic resonance imaging) scan. *Genetic Testing to confirm diagnosis If it is known that there is a family history of Huntington"s disease to doctor will recommend genetic testing to confirm the diagnosis. If there is no family history the doctor may recommend genetic testing if other possible diseases or conditions have been ruled out. Many countries have a minimum age for genetic testing for HD - in the USA and the UK it is 18 years (unless there is a medically compelling reason to test a minor). If someone is found to have the faulty gene but does not yet have symptoms, it is impossible to predict when they will appear. In the UK a GP (general practitioner) will arrange for an appointment at a regional genetic clinic. Genetic counseling will be offered free of charge (UK) and two blood samples will be taken. DNA in the blood sample is extracted and analyzed. *Genetic tests in pregnancy A genetic test can be done on the 11th week of pregnancy. The test will determine whether the embryo has the faulty gene. Genetic counseling is an integral part of the process. Most countries" guidelines say that the pregnant woman should be accompanied to all testing sessions by a companion (not a sibling). *Preimplantation genetic diagnosis If a partner 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. What is the treatment for Huntington"s disease? Huntington"s disease is incurable. There is no current treatment that can reverse its progression or slow it down. Scientists at UT Southwestern Medical Center found that man-made molecules that selectively interfere with protein production can stop human cells from making the abnormal molecules that cause Huntington"s disease. They added that "The work has been done only in cultured cells, and it will take years before the effectiveness of this process can be tested in patients." Some symptoms can be managed with medication and therapies. Medications *Tetrabenazine (Xenazine) - in August 2006 the FDA (Food and Drug Administration), USA approved tetrabenazine for the treatment of jerky, involuntary movements (chorea) associated with Huntington"s disease - the first to be specifically approved for this in the country. The compound has been known since the 1950s. It promotes the early metabolic degradation of the neurotransmitter dopamine. Side effects include: *Drowsiness. *Nausea. *Restlessness. *Dizziness. *Depression - reported in roughly 15% of those who take the medication. Tetrabenazine should not be taken by patients diagnosed with depression, especially people with suicidal thoughts. *Sometimes clonazepan (Klonopin) and haloperidol and clozapine (Clorazil) are prescribed to control movements, violent outbursts and hallucinations. These drugs may cause sedation, as well as stiffness and rigidity. *Fluoxetine (Prozac, Sarafem), sertraline (Zoloft) and nortriptyline (Pamelor), may be prescribed for depression and some of the obsessive-compulsive disorders that are associated with HD. *For extreme emotions and mood swings lithium (Eskalith, Lithobid) may be prescribed. Speech therapy Speech therapy can help patients who find strategies to utter words and phrases and communicate in a more effective way. Physical and occupational therapy Better muscle strength and flexibility can be achieved with a good physical therapist. Strength and flexibility will help the patient"s balance and reduce the risk of falling. An occupational therapist can help the patient devise strategies for coping with concentration and memory problems, as well as making the home safer. Gene Therapy This is still in its infancy but some promising research is going on in many parts of the world. *Researchers from the University of Southern California have taken an important first step toward protecting against Huntington disease using gene therapy. Kelvin J. A. Davies, professor of gerontology in the USC Davis School of Gerontology, said "Our findings allow for the possibility that controlled over-expression of RCAN1-1L might in the future be a viable avenue for therapeutic intervention in Huntington disease patients." *Howard Hughes Medical Institute researchers designed tiny RNA molecules that shut off the gene that causes Huntington"s disease without damaging that gene"s healthy counterpart, which maintains the health and vitality of neurons. Strengthening antioxidant defenses (potential therapy?) Therapeutic strategies to strengthen antioxidant defenses could help to prevent the progression of Huntington"s disease, scientists in Spain revealed. Their research was carried out using human brain samples obtained post mortem from people affected by HD, which were compared with samples from control patients who had died from unrelated illnesses or other causes. The caregiver (UK/Ireland/Australia: carer) Caregiving can become time-consuming and mentally and physically exhausting. Caring for somebody with HD, especially if you are a lone caregiver, will become increasingly so. If you can afford it, get somebody in to help out with either the household chores or the physical care of the person with HD. Inquire with local health agencies, your doctor, about support groups, assistance programs, nursing assistance, and other services. Caregivers have a higher risk of becoming ill themselves, partly because of the stress involved in caregiving, and also because most caregivers are elderly themselves. If you are a caregiver it is important you see your doctor whenever you don"t feel physically or mentally well. Joining a support group may give you the opportunity to "share the burden" which often helps. During the final stages of Huntington"s disease the caregiver may not be able to provide all the care the HD person needs. There are long-term facilities that can do this. Written by Christian Nordqvist Copyright: Medical News Today Not to be reproduced without permission of Medical News Today

Pages: 1 [2] 

Add your comment:

Name:
Site address:	http://
Your message:
Enter today\\\\'s date, 2 digits (spam protection):