The following are health and medical definitions of terms that appear in the Angelman Syndrome article.
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. See the entire definition of Angelman syndrome
Ataxia: Wobbliness. Incoordination and unsteadiness due to the brain's failure to regulate the body's posture and regulate the strength and direction of limb movements. Ataxia is usually a consequence of disease in the brain, specifically in the cerebellum which lies beneath the back part of the cerebrum.
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. See the entire definition of Cure
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. See the entire definition of Diagnosis
Epilepsy (seizure disorder): When nerve cells in the brain fire electrical impulses at a rate of up to four times higher than normal, this causes a sort of electrical storm in the brain, known as a seizure. A pattern of repeated seizures is referred to as epilepsy. Known causes include head injuries, brain tumors, lead poisoning, maldevelopment of the brain, genetic and infectious illnesses. But in fully half of cases, no cause can be found. Medication controls seizures for the majority of patients.
Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Gene
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. See the entire definition of Hyperactivity
Microcephaly: An abnormally small head due to failure of brain growth. In precise terms, microcephaly is a head circumference that is more than 2 standard deviations below the normal mean for age, sex, race, and gestation. (Some authorities define microcephaly as more than 3 standard deviations below the mean.) See the entire definition of Microcephaly
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. See the entire definition of Prognosis
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.
Recurrent: Back again. A recurrent fever is a fever that has returned after an intermission: a recrudescent fever.
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. See the entire definition of Syndrome
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Prader-Willi syndrome is a condition characterized by severe floppiness (hypotonia), poor growth, delayed development, and poor feeding problems in early infancy later followed in infancy by excessive eating that may lead to extreme obesity. The genitals in both females and males are underdeveloped and most are infertile. Prader-Willi syndrome is related to chromosome 15.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
What are genetic professionals and what do they do?
Genetics professionals are health care professionals with specialized degrees
and experience in medical genetics and counseling. Genetics professionals
include geneticists, genetic counselors and genetics nurses.
What is genetic counseling and evaluation?
Genetic professionals work as members of health care teams providing
information and support to individuals or families who have genetic disorders or
may be at risk for inherited conditions. Genetic professionals:
Assess the risk of a genetic disorder by researching a family's history and
evaluating medical records.
Weigh the medical, social and ethical decisions surrounding genetic
testing.
Provide support and information to help a person make a decision about
testing.
Interpret the results of genetic tests and medical data.
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