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Huntingtons disease
- 1. Huntington's Disease By: Austin Pfeifer, Jayden Given, Nathan Egbalic, Amanda Kipperman, Baili Bainbridge, Macie Patten
- 2. Overview Huntington's disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease has a broad impact on a person's functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders. Most people with Huntington's disease develop signs and symptoms in their 30s or 40s, but the onset of disease may be earlier or later in life. When disease onset begins before age 20, the condition is called juvenile Huntington's disease. Earlier onset often results in a somewhat different presentation of symptoms and faster disease progression. It is estimated that for every 100,000 people worldwide, 5–10 will have Huntington’s disease. Huntington’s disease can affect men and women of all ethnic backgrounds. The disease occurs throughout the world, however, there are geographic clusters where it is unusually common. There are no accurate estimates of the number of new cases each year. Nathan Egbalic
- 3. Etiology Cause Huntington’s disease is an autosomal dominant disorder. This means that a person only needs one copy of the defective gene to inherit this disorder. It specifically is located on chromosome 4. It causes a part of the developing DNA to occur excessively. (36-120 times more than usual.) The more amount of repeats, the earlier the symptoms will occur in a person. Nervous System Anatomy HD affects a group of nerve cells at the base of the brain called the basal ganglia. This organizes the muscle movement of the body. Why? People get this disease when their DNA copies the “CAG’ trinucleotide too many times.
- 4. Signs and Symptoms. Austin Signs Some signs of Huntington’s disease is muscular problems, behavioral problems, psychological problems, mood behaviors, and tremor, weight loss, and impaired voice. The most common signs are progressive movement, thinking, and psychiatric symptoms. Symptoms Symptoms occur between the ages 30 and 50. They can appear as soon as age 2. You may experience uncontrolled movements in the arms, legs, head, face and upper body. It also causes a steady decline in thinking and reasoning skills, including memory, concentration, judgement and ability to plan and organize. You will experience depression. you will aslo find people with Huntington’s will have people repeating themselves over and over.
- 5. Diagnosis and Tests Neurologists may evaluate motor symptoms, sensory symptoms and pyschiatric symptoms, including: Reflexes Muscle tone/strength Balance and coordination Sense of touch hearing and vision Mental Status
- 6. Diagnosis and Tests They may also suggest Neuropsychological testing including memory, reasoning, spatial reasoning, mental agility, and language function. A Psychiatric evaluation may be required to test emotional state, coping skills, and signs of disordered thinking. Brain imaging including an MRI and a CT scan may be required as well Lastly, genetic counseling and tests are essential in determining the risk in having children and dealing with a fatal disease. Macie Patten
- 7. Treatment and Care. Amanda No treatments can alter the course of Huntington's disease. But medications can lessen some symptoms of movement and psychiatric disorders. Physicians are doctors in charge of treatment. Tetrabenazine (Xenazine) is specifically approved by the Food and Drug Administration to suppress the involuntary jerking and writhing movements (chorea) associated with Huntington's disease. The emphasis today is on living positively with Huntington's Disease. An integrated, multidisciplinary approach focuses on the triad of: diet and supplements exercise spiritual and psychosocial support This well-rounded program enhances quality of life for people living with Huntington's Disease, as well as for those at risk of developing HD, and may very likely delay the onset of symptoms.
- 8. Living and Management Jayden People living with Huntington’s Disease most likely have a caretaker or family member who takes care of the victim and makes sure they get what they need and deserve. There is a lot of support out there for people with this disease, such as; Huntington’s Disease Society of America and many youth organizations. Living with Huntington’s Disease you must try to remain healthy because you are more likely to develop pneumonia and other infections. Another person who can drastically help someone with Huntington’s Disease is your doctor. They can provide everything that you would need from; support, medications, insight, and information.