HUNGTINGTONS DISEASE Definition -Also known as huntington chorea.

-is an autosomal-dominant degenerative neurologic disease, characterized by abnormal movements, intellectual decline, and emotional disturbances. Women and men are equally affected. There are two forms of Huntington's disease.

The most common is adult-onset Huntington's disease. Persons with this form usually develop symptoms in their mid-30s and 40s. An early-onset form of Huntington's disease accounts for a small number of cases and begins in childhood or adolescence.

Signs and symptoms Behavior changes may occur before movement problems, and can include:

Behavioral disturbances Hallucinations Irritability Moodiness Restlessness or fidgeting Paranoia Psychosis

Abnormal and unusual movements include:

Facial movements, including grimaces Head turning to shift eye position Quick, sudden, sometimes wild jerking movements of the arms, legs, face, and other body parts Slow, uncontrolled movements Unsteady gait

Dementia that slowly gets worse, including:

Disorientation or confusion Loss of judgment Loss of memory Personality changes Speech changes

Additional symptoms that may be associated with this disease:

Anxiety, stress, and tension Difficulty swallowing Speech impairment

Symptoms in children:

Rigidity Slow movements Tremor

Etiology: Huntington's disease is caused by a genetic defect on chromosome 4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 28 times. But in persons with Huntington's disease, it is repeated 36 to 120 times. Offspring of an affected person have a 50% chance of inheriting the disease.

AnatomyandPhysiology

Brainstem-is the lower extension of the brain which connects the brain to the spinal cord, and acts mainly as a relay station between the body and the brain. It also controls various other functions, such as wakefulness, sleep patterns, and attention; and is the source for ten of the twelve cranial nerves Three structures: >The midbrain is involved in eye motion.

>The pons coordinates eye and facial movements, facial sensation, hearing, and balance. >The medulla oblongata controls vegetative functions such as breathing. Thalamus-is a structure that is located above the brainstem and it serves as a relay station for nearly all messages that travel from the cerebral cortex to the rest of the body/brain and vice versa. As such, problems within the thalamus can cause significant symptoms with regard to a variety of functions, including movement, sensation, and coordination. It also functions as an important component of the pathways within the brain that control pain sensation, attention, and wakefulness. Cerebellum- is located at the lower back of the brain beneath the occipital lobes and is separated from them by the tentorium. This part of the brain is responsible for maintaining balance and coordinating movements. Abnormalities in either side of the cerebellum produce symptoms on the same side of the body. Cerebrum-forms the major portion of the brain, and is divided into the right and left cerebral hemispheres. These hemispheres are separated by a groove called the great longitudinal fissure and are joined at the bottom of this fissure by a struture called the corpus callosum which allows communication between the two sides of the brain. The surface of the cerebrum contains billions of neurons and glia that together form the cerebral cortex (brain surface), also known as "gray matter." The surface of the cerebral cortex appears wrinkled with small grooves that are called sulci and bulges between the grooves that are called gyri. Beneath the cerebral cortex are connecting fibers that interconnect the neurons and form a white-colored area called the "white matter." Hypothalamus-is a structure that communicates with the pituitary gland in order to manage hormone secretions as well as controlling functions such as eating, drinking, sexual behaviour, sleep, body temperature, and emotions. Basal ganglia-are clusters of nerve cells around the thalamus which are heavily connected to the cells of the cerebral cortex. The basal ganglia are associated with a variety of functions, including voluntary movement, procedural learning, eye movements, and cognitive/emotional functions. The various components of the basal ganglia include caudate nucleus, putamen, globus pallidus, substantia nigra, and subthalamic nucleus. Diseases affecting these parts can cause a number of neurological conditions, including Parkinson's disease and Huntington's disease.

Pathophysiology Gene for the disease is chromosome 4 Encodes CHON called huntingtin

Presence of huntingtin gene leads to Localized death of brain cells

Combination of activation & Apoptotic pathways

impairment of normal metabolic process in Susceptible neurons

Cell loss

Neurons of basal ganglia Are affected

symmetric atrophy of caudate nuclei & lesser Involvement of putamen Of the basal ganglia

atrophy of the frontal cortex

Loss of acetylcholine- secreting Neurons in the cortex

Dementia/ HD Diagnostic tests >The doctor will perform a physical exam and may ask questions about the patient's family history and symptoms. A neurological exam will also be done. >A head CT scan may show loss of brain tissue, especially deep in the brain. Other tests that may show signs of Huntington's disease include:

>Head MRI scan >PET (isotope) scan of the brain >Genetic tests are available to determine whether a person carries the gene for Huntington's disease.

Treatment There is no cure for Huntington's disease, and there is no known way to stop the disease from getting worse. The goal of treatment is to slow down the symptoms and help the person function for as long and as comfortable as possible. Medications vary depending on the symptoms.

Dopamine blockers such as Haloperidol may help reduce abnormal behaviours and movements. Drugs such as amantadine and tetrabenazine are used to control extra movements. There has been some evidence to suggest that co-enzyme Q10 may also help slow down the course of the disease, but it is not conclusive. Diazepam can be used to lower anxiety, thereby aiding in control of movements.

Depression and suicide are common among persons with Huntington's disease. It is important for all those who care for a person with Huntington's disease to monitor for symptoms and treat accordingly. Antidepressants can help depression. As the disease progresses, the person will need assistance and supervision, and may eventually need 24-hour care. Prevention Genetic counselling is advised if there is a family history of Huntington's disease. Experts also recommend genetic counselling for couples with a family history of this disease who are considering having children. Nursing diagnosis 1. Potential from injury from falls and possible skin breakdown (pressure ulcers, abrasions), related to uncontrollable movements. 2. Self-care deficit related to inability to care for self 3. Risk for aspiration related to difficulty swallowing 4. Imbalance nutrition less than body requirements related to difficulty eating and swallowing.

5. Impaired thought processes related to loss of cells in the cortex secondary to Huntington disease Nursing interventions: 1. Pad the sides and head of the bed; ensure that the patient can see over the sides of the bed. 2. Use lamss wool padding for heel and elbow protection. 3. Keep the skin meticulously clean. 4. Apply emollient cleansing agent and skin lotion frequently. 5. Use soft sheets and beddings. 6. Encourage ambulation with assistance to maintain muscle tone. 7. Secure the patient in bed or chair with padded protective devices, making sure that they are loosened. 8. Administer foods that are easy to swallow. 9. Give small frequent meals containing high calorie foods. 10. Place patient in upright position when eating. While swallowing, they should keep the chin down toward the chest. Prognosis Poor prognosis. Huntingtons disease causes disability that gets worse over time. Persons with this disease usually die within 15 to 20 years. The cause of death is often infection, although suicide is also common. Complication Respiratory tract problems Loss of ability to interact Injury to self or others Increased risk of infection Depression death