The following are health and medical definitions of terms that appear in the Canavan Disease article.
Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer).
Acquired: Anything that is not present at birth but develops some time later. In medicine, the word "acquired" implies "new" or "added." An acquired condition is "new" in the sense that it is not genetic (inherited) and "added" in the sense that was not present at birth. See the entire definition of Acquired
Atrophy: Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass. See the entire definition of Atrophy
Blindness: Loss of useful sight. Blindness can be temporary or permanent. Damage to any portion of the eye, the optic nerve, or the area of the brain responsible for vision can lead to blindness. There are numerous (actually, innumerable) causes of blindness. The current politically correct terms for blindness include visually handicapped and visually challenged.
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."
Canavan disease: A severe progressive inherited (genetic) disorder of the central nervous system (CNS). See the entire definition of Canavan disease
Cerebral: Pertaining to the brain, the cerebrum or the intellect. See the entire definition of Cerebral
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
Enzyme: A protein (or protein-based molecule) that speeds up a chemical reaction in a living organism. An enzyme acts as catalyst for specific chemical reactions, converting a specific set of reactants (called substrates) into specific products. Without enzymes, life as we know it would not exist. See the entire definition of Enzyme
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.
Leukodystrophy: A disorder of the white matter of the brain, the part of the brain that contains myelinated nerve fibers. The white matter is white because it is the color of myelin, the insulation covering the nerve fibers. (The white matter is as opposed to the gray matter, the cortex of the brain which contains the nerve cell bodies). The white matter is involved in the conduction of nerve impulses in the brain.
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. See the entire definition of Mental retardation
Microscopic: So small it cannot be seen without the aid of microscope. As opposed to macroscopic (large enough to be seen with naked eye). A tiny tumor is microscopic while a big tumor is macroscopic.
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.
Muscle: Muscle is the tissue of the body which primarily functions as a source of power. There are three types of muscle in the body. Muscle which is responsible for moving extremities and external areas of the body is called "skeletal muscle." Heart muscle is called "cardiac muscle." Muscle that is in the walls of arteries and bowel is called "smooth muscle."
Mutation: A permanent change, a structural alteration, in the DNA or RNA. In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV, mutations occur in RNA which is the genetic material of retroviruses. See the entire definition of Mutation
Myelin: The fatty substance that covers and protects nerves. Myelin is a layered tissue that sheathes the axons (nerve fibers). This sheath around the axon acts like a conduit in an electrical system, ensuring that messages sent by axons are not lost en route. It allows efficient conduction of action potentials down the axon. Myelin consists of 70% lipids (cholesterol and phospholipid) and 30% proteins. It is produced by oligodendrocytes in the central nervous system.
Nerve: A bundle of fibers that uses chemical and electrical signals to transmit sensory and motor information from one body part to another. See: Nervous system.
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."
Paralysis: Loss of voluntary movement (motor function). Paralysis that affects only one muscle or limb is partial paralysis, also known as palsy; paralysis of all muscles is total paralysis, as may occur in cases of botulism.
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. See the entire definition of Pregnancy
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
Progressive: Increasing in scope or severity. Advancing. Going forward. In medicine, a disease that is progressive is going from bad to worse.
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. See the entire definition of Stroke
Substance:1. Material with particular features, as a pressor substance. 2. The material that makes up an organ or structure. Also known in medicine as the substantia. 3. A psychoactive drug as, for example, in substance abuse.
Therapeutic: Relating to therapeutics, that part of medicine concerned specifically with the treatment of disease. The therapeutic dose of a drug is the amount needed to treat a disease. See the entire definition of Therapeutic
White matter: The part of the brain that contains myelinated nerve fibers. The white matter is white because it is the color of myelin, the insulation covering the nerve fibers. The white matter is as opposed to the gray matter (the cortex of the brain which contains nerve cell bodies).
Learning disabilities can cause an individual to have trouble learning and using skills such as reading, listening, writing, reading, speaking, reasoning, and performing mathematics. There is no cure for learning disabilities. Parents and teachers working together to properly diagnose learning disabilities can properly plan a course of education. For some, medication may be appropriate as complimentary treatment.
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.
Hearing loss (deafness) may be present at birth or it may manifest later in life. Deafness may be genetic or due to damage from noise. Treatment of deafness depends upon its cause.
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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