Amino acid: One of the 20 building blocks of protein . The sequence of amino acids in a protein and, hence, the function of that protein are determined by the genetic code in the DNA .
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Birth defect: Any defect present in a baby at birth, irrespective of whether the defect is caused by a genetic factor or by prenatal events that are not genetic.
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Brain: That part of the central nervous system that is located within the cranium ( skull ). The brain functions as the primary receiver, organizer and distributor of information for the body. It has two (right and left) halves called "hemispheres."
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Cerebral: Pertaining to the brain, the cerebrum or the intellect.
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Cerebral cortex: A thin mantle of gray matter about the size of a formal dinner napkin covering the surface of each cerebral hemisphere. The cerebral cortex is crumpled and folded, forming numerous convolutions ( gyri ) and crevices ( sulci ). It is made up of six layers of nerve cells and the nerve pathways that connect them. The cerebral cortex is responsible for the processes of thought, perception and memory and serves as the seat of advanced motor function, social abilities, language, and problem solving.
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Chickenpox: A highly infectious viral disease also known medically as varicella -- in many countries, this disease is always called "varicella" -- that causes a blister-like rash, itching, fatigue and fever. The rash crops up first on the face and trunk and can spread over the entire body resulting in 250 to 500 itchy blisters.
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Cortex: The outer portion of an organ.
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Dwarfism: Abnormally short stature. Some forms are hereditary. The Little People of America (LPA) define dwarfism as an adult height of 148 cm (4 feet 10 inches) or less. Also known as nanism . Dwarfism is now more correctly called short stature.
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Dysfunction: Difficult function or abnormal function.
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Genetic: Having to do with genes and genetic information.
Genetic counseling: An educational counseling process for individuals and families who have a genetic disease or who are at risk for such a disease. Genetic counseling is designed to provide patients and their families with information about their condition and help them make informed decisions.
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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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Intervention: The act of intervening, interfering or interceding with the intent of modifying the outcome. In medicine, an intervention is usually undertaken to help treat or cure a condition. For example, early intervention may help children with autism to speak. "Acupuncture as a therapeutic intervention is widely practiced in the United States," according to the National Institutes of Health. From the Latin intervenire, to come between.
Measles : An acute and highly contagious viral disease characterized by fever , runny nose, cough, red eyes, and a spreading skin rash . Measles , also known as rubeola, is a potentially disastrous disease. It can be complicated by ear infections, pneumonia , encephalitis (which can cause convulsions, mental retardation, and even death), the sudden onset of low blood platelet levels with severe bleeding (acute thrombocytopenic purpura), or a chronic brain disease that occurs months to years after an attack of measles (subacute sclerosing panencephalitis).
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Mental retardation: A term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills. These limitations will cause a child to learn and develop more slowly than a typical child. Children with mental retardation may take longer to learn to speak, walk, and take care of their personal needs such as dressing or eating. They are likely to have trouble learning in school. They will learn, but it will take them longer. There may be some things they cannot learn. As many as 3 out of every 100 people have mental retardation. In fact, 1 out of every 10 children who need special education has some form of mental retardation.
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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.)
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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.
Neurologist: A doctor who specializes in the diagnosis and treatment of disorders of the nervous system.
Neuromuscular: Pertaining to both nerves and muscles, as in neuromuscular blockade by an anesthetic agent, the neuromuscular junction (the meeting place of a nerve and a muscle fiber), and neuromuscular transmission (the transfer of "information" from the nerve to the muscle).
NIH: The National Institutes of Health. The NIH is an important U.S. health agency. It is devoted to medical research. Administratively under the Department of Health and Human Services (HHS), the NIH consists of 20-some separate Institutes and Centers. NIH's program activities are represented by these Institutes and Centers.
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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."
Pediatric: Pertaining to children.
Phenylketonuria : The inherited inability to metabolize (process) the essential amino acid phenylalanine due to complete or near-complete deficiency of the enzyme phenylalanine hydroxylase.
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PKU: Short for phenylketonuria. See: Phenylketonuria.
Pregnancy : The state of carrying a developing embryo or fetus within the female body. This condition can be indicated by positive results on an over-the-counter urine test, and confirmed through a blood test, ultrasound, detection of fetal heartbeat, or an X-ray. Pregnancy lasts for about nine months, measured from the date of the woman's last menstrual period (LMP). It is conventionally divided into three trimesters, each roughly three months long.
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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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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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Virus: A microorganism smaller than a bacteria, which cannot grow or reproduce apart from a living cell. A virus invades living cells and uses their chemical machinery to keep itself alive and to replicate itself. It may reproduce with fidelity or with errors (mutations)-this ability to mutate is responsible for the ability of some viruses to change slightly in each infected person, making treatment more difficult.
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- Alcohol Abuse and Alcoholism - Learn alcohol abuse and alcoholism causes, symptoms, treatment and medication facts. What are warning signs of a drinking problem? Is this a hereditary disease?
- Seizure (Epilepsy) - Learn about epilepsy, or seizure disorder. Causes include head injury, trauma, prenatal injury, poisoning, medications, stroke, heart attacks, alcoholism, infection, and more. Symptoms, diagnosis, and treatment information is included in the information.
- Down Syndrome - Learn about Down syndrome, the most common cause of mental retardation. Diagnostic tests for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling.
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