wilson's disease…

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central nervous system, copper urine test, hepatolenticular degeneration, wilson's disease, inherited disorder where there, excessive amounts of copper, a variety of effects, liver disease, nervous system, wilson's disease, rare inherited disorder, parents carry an abnormal gene, wilson's disease, 25% chance that each of children, develop the disorder, an autosomal recessive disease, wilson's disease causes, body to absorb, retain, excessive amounts of copper, copper deposits, in the liver, brain, kidneys, eyes, deposits of copper cause tissue damage, death, the tissues, scarring, organs to stop functioning properly, liver failure, central nervous system, brain, spinal cord, the most predominant, most dangerous, effects, the disorder, not caught, treated early, wilson's disease is fatal, most common in eastern europeans, sicilians, southern italians, occur in any group, disorder most commonly appears in people under 40 years old, in children, symptoms begin to be expressed by around 4 years old, enlargement, the abdomen, abdominal distention, splenomegaly, yellow skin, jaundice, eye color, icterus, vomiting blood, weakness, tremors, the arms, hands, difficulty moving extremities, stiffness, abnormal extremity posture, dystonia, slow movements, difficulty walking, movement, unpredictable, jerky, movement, uncontrollable, movement, slow, weakness, the head, neck, face, arms, speech impairment, poor enunciation, decreased facial movement/expression, emotional, behavioral changes, confusion, delirium, dementia, loss of multiple brain functions, an eye examination, kayser-fleischer rings, rusty, brown-colored ring around the iris, eye movement restricted, a physical examination, signs of, liver, spleen disorders, cirrhosis, liver necrosis, central nervous system, loss of coordination, loss of muscle control, muscle tremors, loss of cognitive, intellectual functions, loss of memory, confusion, delirium, dementia, lab findings, serum ceruloplasmin, it is normal in 5% of cases, serum copper, low in spite, the copper deposits in tissues, urine copper, cbc, hemolytic anemia, decreased white blood cell count, serum uric acid levels, liver problems, lab abnormalities, pt /ptt, elevated, sgot /sgpt, elevated, albumin, decreased, bilirubin, elevated, tests findings, head mri, head ct scan abnormal, region, the brain, the basal ganglia, nonspecific, abdominal x-ray, abdominal mri, ct scan, the abdomen, indicate liver disease, abnormality, liver biopsy, biopsy, the kidneys, suspect tissue shows deposits of copper, tissue changes that indicate damage, tissues, increase the protein, amino acid level, 24-hr, urine specimen, specific gene responsible, the abnormality, mutation, wilson's disease has been identified, atp7b, a simple genetic test to screen, wilson's disease has not yet been developed, testing is complicated, many possible mutations from this gene, goals of treatment, to reduce the amount, copper, in the tissues, to manage the symptoms, the disorder, treatment must be lifelong, following medications used, zinc acetate, galzin, blocks the absorption of copper, in the intestinal tract, trientine, syprine, binds, chelates the copper, leads to increased urinary excretion, the metal, penicillamine, cuprimine, depen, binds, chelates copper, leads to increased urinary excretion, medication that chelates copper, penicillamine, worsen the person's neurologic function, medications under investigation, hopefully, bind copper, risking possible worsening of neurologic function, a low-copper diet recommended, avoiding mushrooms, nuts, chocolate, dried fruit, liver, shellfish, distilled water suggested, most tap water flows, copper pipes, avoid using copper cooking utensils, exercises, physical therapy, protective measures, confused, unable to care, wilson disease support groups, geneticalliance, lifelong treatment is required to control the disorder, fatal effects, loss of liver function, toxic effects of copper on the nervous system, disorder is not fatal, symptoms disabling, acute hepatitis, chronic hepatitis, cirrhosis, death of liver tissues, spleen dysfunction, anemia, increased number of infections, injury, falls, loss of ability to interact, people, loss of ability to function at work, loss of ability to care, self, loss of muscle mass, atrophy, joint contractures, deformity, increased incidence of bone fractures, side effects of penicillamine, side effects of other medications, treat the disorder, symptoms indicate wilson's disease present, call a genetic counselor, wilson's disease is present in family, genetic counseling, persons, a family history of wilson's disease.