Angelman syndrome: An important genetic syndrome characterized by severe motor and intellectual retardation, microcephaly (abnormally small head), ataxia , frequent jerky limb movements and flapping of the arms and hands, hypotonia (floppiness), hyperactivity , seizures, absence of speech, frequent smiling and outbursts of laughter, and an unusual facies (facial appearance) characterized by macrostomia (large mouth), a large jaw and open-mouthed expression, and a great propensity for protruding the tongue (tongue thrusting). The name Angelman syndrome is now preferred because the old term "happy puppet syndrome" may appear derisive to the child's family.
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Cure: 1. To heal, to make well, to restore to good health. Cures are easy to claim and, all too often, difficult to confirm.
2. A time without recurrence of a disease so that the risk of recurrence is small, as in the 5-year cure rate for malignant melanoma .
3. Particularly in the past, a course of treatment. For example, take a cure at a spa.
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Developmental delay: Behind schedule in reaching milestones of early childhood development.
Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
Hyperactivity: A higher than normal level of activity. An organ can be described as hyperactive if it is more active than usual. Behavior can also be hyperactive.
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Motor: In medicine, having to do with the movement of a part of the body. Something that produces motion or refers to motion. For example, a motor neuron is a nerve cell that conveys an impulse to a muscle causing it to contract. The term "motor" today is also applied to a nerve that signals a gland to secrete. Motor is as opposed to sensory.
Neurological: Having to do with the nerves or the nervous system.
NINDS: Stands for the National Institute of Neurological Disorders and Stroke, one of the National Institutes of Health in the U.S., whose mission is to "support and conduct research and research training on the normal structure and function of the nervous system and on the causes, prevention, diagnosis, and treatment of more than 600 nervous system disorders including stroke, epilepsy, multiple sclerosis, Parkinson's disease, head and spinal cord injury, Alzheimer's disease, and brain tumors."
Prognosis: 1. The expected course of a disease .
2. The patient's chance of recovery.
The prognosis predicts the outcome of a disease and therefore the future for the patient . His prognosis is grim, for example, while hers is good.
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Quality of life: An important consideration in medical care, quality of life refers to the patient's ability to enjoy normal life activities. Some medical treatments can seriously impair quality of life without providing appreciable benefit, while others greatly enhance quality of life.
Silver: A metal used in some medications and in many "natural" remedies, as well as in silver amalgam for filling cavities in teeth. Silver has antibiotic properties. However, overuse of silver, or use of products containing silver by people with certain health conditions, can result in silver poisoning (argyria).
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Sleep : The body's rest cycle.
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Stroke : The sudden death of some brain cells due to a lack of oxygen when the blood flow to the brain is impaired by blockage or rupture of an artery to the brain. A stroke is also called a cerebrovascular accident or, for short, a CVA.
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Syndrome: A set of signs and symptoms that tend to occur together and which reflect the presence of a particular disease or an increased chance of developing a particular disease.
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Therapy: The treatment of disease .
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- Birth Defects - Read about birth defects, the leading cause of infant mortality during the first year. Causes of birth defects include ingestion of drugs or alcohol during pregnancy, genetic, hereditary, or environmental factors.
- Prader-Willi Syndrome - Read about Prader-Willi syndrome, a genetic condition characterized by weak muscle tone, feeding problems, delayed growth and development, which eventually leads to severe obesity. Prader-Willi syndrome is a defect in chromosome 15.
- Genetic Disease - Learn about genetic disease caused by abnormalities in an individual's genome. There are four types of genetic inheritance, single, multifactoral, chromosome abnormalities, and mitochondrial inheritance. Genetic testing is available for some genetic diseases.
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