Huntington chorea
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Huntington chorea Huntington chorea Document Transcript

  • Huntingtons diseaseDefinitionHuntingtons disease is a progressive, degenerative disease that causes certain nerve cells in your brainto waste away. As a result, you may experience uncontrolled movements, emotional disturbances andmental deterioration.Huntingtons disease is an inherited disease. Signs and symptoms usually develop in middle age.Younger people with Huntingtons disease often have a more severe case, and their symptoms mayprogress more quickly. Rarely, children may develop Huntingtons disease.Medications are available to help manage the signs and symptoms of Huntingtons disease, buttreatments cant prevent the physical and mental decline associated with the condition.SymptomsThe signs and symptoms of Huntingtons disease can vary significantly from person to person.Huntingtons disease usually develops slowly, and the severity of signs and symptoms is related to thedegree of nerve cell loss. Death occurs about 10 to 30 years after signs and symptoms first appear. Thedisease progression may occur faster in younger people.Early signs and symptoms of Huntingtons disease often include:■Personality changes, such as irritability, anger, depression or a loss of interest■Decreased cognitive abilities, such as difficulty making decisions, learning new information, answeringquestions and remembering important information■Mild balance problems■Clumsiness■Involuntary facial movements, such as grimacingYour family and friends may notice these changes before you become aware of them.Later signs and symptoms of Huntingtons disease can include:■Sudden jerky, involuntary movements (chorea) throughout your body■Severe problems with balance and coordination■Jerky, rapid eye movements
  • ■Hesitant, halting or slurred speech■Swallowing problems■DementiaYoung people who develop Huntingtons disease may have signs and symptoms that mimic Parkinsonsdisease:■Muscle rigidity■Tremors■Slow movementsSeizures may also occur in those with early-onset Huntingtons disease.When to see a doctorSee your doctor if you notice changes in your movements, emotional control or mental ability. Thesesigns and symptoms can be the result of many conditions, so they dont necessarily mean you haveHuntingtons disease.If you have a family history of Huntingtons disease, you may want to talk with your doctor aboutgenetic testing that can tell you whether or not you carry the defective gene. Deciding whether to betested for the gene is a personal decision. For some people, the uncertainty of whether they carry thefaulty gene is stressful and distracting. For others, the knowledge that they will develop the condition isburdensome. If youre uncertain whether testing is right for you, consider contacting a genetic counselorwho can help you understand the implications of a positive or negative test result, walk you through thetesting process, and help you weigh the pros and cons. Ask your doctor for help locating a geneticcounselor.CausesHuntingtons disease is an inherited condition caused by a single abnormal gene. Doctors refer to theillness as an autosomal dominant disorder because only one copy of the defective gene, inherited fromeither parent, is necessary to produce the disease. If one parent has the single faulty gene, the chancethat an offspring will have the defect is 50 percent. Because signs and symptoms typically first appear inmiddle age, some parents may not know they carry the gene until theyve already had children andpossibly passed on the trait.If your child doesnt inherit the faulty gene, he or she wont develop Huntingtons disease and cant passit on to the next generation. Everyone who has the gene eventually develops Huntingtons disease, if heor she lives long enough.In 2006, researchers discovered that the protein expressed by the Huntingtons gene interacts withanother protein to disturb the way that cholesterol accumulates in the brain.
  • Cholesterol is essential for healthy brain cells and the network among those brain cells — but thecholesterol needs to be in proper levels and in the proper locations. When the network of brain cells isdisrupted, motor skills, cognitive skills and speech can be affected. If scientists can figure out a way todisrupt this interaction between the proteins, they may eventually be able to develop a targeted drugtherapy.Risk factorsIf one of your parents has Huntingtons disease, you have a 50 percent chance of developing the disease.In rare cases, you may develop Huntingtons disease without having a family history of the condition.Such an occurrence may be the result of a genetic mutation that happened during your fathers spermdevelopment.ComplicationsAfter onset of the disease, signs and symptoms continue until death. Though the signs and symptomsvary from person to person, vital functions, such as swallowing, eating, speaking and walking, usuallydegenerate over time. Depression is common in Huntingtons disease, and some people are at risk ofsuicide. However, death generally occurs as a result of complications of the disease, such as a fall or aninfection like pneumonia.Preparing for your appointmentYour first appointment may occur because you or a loved one has noticed that you have some signs andsymptoms of Huntingtons disease, or it may be because you know one of your parents had the disease.You can see your primary care physician initially, but if youre diagnosed with Huntingtons disease youlllikely be referred to a neurologist — a doctor who specializes in treating nervous system disorders — foryour care.Because appointments can be brief, and theres often a lot of ground to cover, its a good idea to be wellprepared for your appointment. Heres some information to help you get ready for your appointment,and what to expect from your doctor.What you can do■Write down any symptoms youre experiencing, including any that may seem unrelated to the reasonfor which you scheduled the appointment.■Write down key personal information, including any major stresses or recent life changes.■Make a list of all medications, as well as any vitamins or supplements, that youre taking.■Ask a family member or friend to join you. Sometimes it can be hard to remember all the informationprovided to you during an appointment. Someone who accompanies you may remember somethingthat you missed or forgot.■Write down questions to ask your doctor.
  • Your time with your doctor is limited, so preparing a list of questions will help you make the most ofyour time together. List your questions from most important to least important in case time runs out.For Huntingtons disease, some basic questions to ask your doctor include:■Are my signs and symptoms caused by Huntingtons disease?■Are there any other possible causes for my symptoms?■What kinds of tests do I need to confirm the diagnosis?■What treatments are available, and which do you recommend?■What types of side effects can I expect from treatment?■Are there any clinical trials available to me?■What types of supportive care, such as occupational therapy, are available to me?■Are there any dietary or activity restrictions that I need to follow?■Will I be able to have children? Whats my risk of passing it on to them?■How long will I be able to live on my own?■Are there any brochures or other printed material that I can take home with me? What Web sites doyou recommend visiting?In addition to the questions that youve prepared to ask your doctor, dont hesitate to ask questionsduring your appointment any time you dont understand something.What to expect from your doctorYour doctor is likely to ask you a number of questions. Being ready to answer them may reserve time togo over any points you want to spend more time on. Your doctor may ask:■When did you first begin experiencing symptoms?■Have your symptoms been continuous, or intermittent?■Has anyone in your family ever been diagnosed with Huntingtons disease?■Are you having trouble performing any daily tasks?■Has anyone in your family died young?■Is anyone in your family in a nursing home?
  • ■Is anyone in your family fidgety or moving all the time?■Do you feel sad all of the time?Tests and diagnosisDuring an initial evaluation, your doctor will:■Perform a physical exam■Ask about your medical history and your family medical history■Ask about any recent emotional or intellectual changesIf your doctor suspects Huntingtons disease, youll likely:■Undergo a psychiatric evaluation■Meet with a genetic counselor to discuss the possibility of having a blood test to determine whetheryou have the defective geneIf you know that one of your parents had Huntingtons, ask your doctor about genetic testing. Genetictesting is generally done in a setting where pre-test counseling and post-test support are available alongwith testing.Your doctor may also suggest:■Computerized tomography (CT)■Magnetic resonance imaging (MRI)These imaging tests can help your doctor identify any changes to your brains structure and rule outother disorders.Treatments and drugsNo satisfactory treatment is available to stop or reverse Huntingtons disease. Some approaches cancontrol signs and symptoms, but Huntingtons disease eventually causes physical and mental disability.As the disease progresses, long-term nursing home care may be necessary.MedicationsTetrabenazine (Xenazine) is the first medication to be specifically approved by the Food and DrugAdministration for the treatment of the signs or symptoms of Huntingtons. It helps reduce the jerky,involuntary movements of Huntingtons disease by increasing the amount of dopamine available in thebrain. Possible side effects include insomnia, drowsiness, nausea and restlessness. This medication isntrecommended for use in anyone with depression, especially anyone with suicidal thoughts.
  • Tranquilizers such as clonazepam (Klonopin) and antipsychotic drugs such as haloperidol and clozapine(Clozaril) can help control movements, violent outbursts and hallucinations. While these medicationscan be helpful, a common side effect is sedation, and in some cases, these medications may causeadditional stiffness and rigidity.Various medications, including fluoxetine (Prozac, Sarafem), sertraline (Zoloft) and nortriptyline(Pamelor), can help control depression and the obsessive-compulsive rituals that some people withHuntingtons disease develop. Medications such as lithium (Eskalith, Lithobid) can help control extremeemotions and mood swings.Side effects from many of the drugs used to treat the symptoms of Huntingtons disease may includehyperexcitability, fatigue and restlessness.Speech therapyHuntingtons disease can impair your speech, affecting your ability to express complex thoughts. Youmay find that speech therapy helps. Remind friends, family members and caregivers that if you dontspeak, it doesnt necessarily mean that you dont understand whats going on. Ask people to continuetalking to you and keep your environment as normal as possible.Physical and occupational therapyPhysical therapy can help keep muscles stronger and more flexible, which helps maintain balance andmay lessen the risk of falling. Occupational therapy can help make your home safer and give youstrategies for coping with memory and concentration problems. Later in the disease, occupationaltherapy can assist you with eating, dressing and hygiene challenges.Experimental treatments and new researchScientists are working to try to come up with new treatments to slow the course of Huntingtonsdisease. One area of research is the combination of certain cancer and AIDS drugs. This combination hashalted the progress of Huntingtons in fruit flies.The use of stem cells is another avenue for research. Transplanted in the brain, stem cells might helpreduce some of the damage thats been done to the neurons in the brain. Animal studies have shownpromising results, but much more research must occur.In October 2008, researchers began recruiting for a randomized, placebo-controlled clinical trial of anew drug currently known as ACR16. This medication stabilizes levels of dopamine, which may improvemotor, cognitive and psychiatric functioning.Lifestyle and home remediesHaving Huntingtons disease presents a number of challenges that require daily or regular attention. Thefollowing steps may improve how you feel:
  • ■Exercise regularly. Regular exercise is beneficial. It helps both your physical and emotional health.Wearing well-fitting, sturdy shoes during exercise may help improve your stability.■Maintain proper nutrition. You may burn as many as 5,000 calories a day, so be sure to get adequatenutrition to maintain your body weight, and consider extra vitamins and supplements. BecauseHuntingtons disease can impair coordination, you may need assistance when eating. Give yourself asmuch time as you need for meals. Cutting food into small pieces or eating pureed food may makeswallowing easier and prevent choking. Dairy products may make you secrete excess mucus, which mayincrease your risk of choking. Occupational therapists may make other suggestions on how to improveyour swallowing. Using cups with lids and suction cups and tableware designed for people withdisabilities may help prevent spills.■Drink plenty of fluids. Huntingtons disease can make you vulnerable to dehydration. Drink largeamounts of liquids, especially during hot weather. Some people find that bendable straws make drinkingeasier.PreventionIf you have a family history of Huntingtons disease, you may want to consider genetic counseling beforestarting a family. A blood test can determine the presence of the faulty gene, even before you showsigns or symptoms. If one parent carries the defective gene, his or her child has a 50 percent chance ofdeveloping Huntingtons disease.If youre at risk of passing the genetic defect that causes Huntingtons disease to your children, you maywish to consider adoption or certain forms of assisted reproduction. One possibility is in vitrofertilization with pre-implantation screening. In this procedure, embryos are screened for theHuntingtons disease gene mutation, and those that dont have the mutation are then implanted in thewomans uterus.