The following are health and medical definitions of terms that appear in the Genetic Disease article.
Acidosis: Too much acid in the body, a distinctly abnormal condition resulting from the accumulation of acid or from the depletion of alkaline reserves. In acidosis, the pH of the blood is abnormally low. Acidosis is associated with diabetic ketoacidosis, lung disease, and severe kidney disease. The opposite of acidosis is alkalosis in which there is too high a pH due to excess base or insufficient acid in the body.
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
Anemia: The condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. See the entire definition of Anemia
Asthma: A common disorder in which chronic inflammation of the bronchial tubes (bronchi) makes them swell, narrowing the airways. Asthma involves only the bronchial tubes and does not affect the air sacs (alveoli) or the lung tissue (the parenchyma of the lung) itself. See the entire definition of Asthma
Atrophy: Wasting away or diminution. Muscle atrophy is wasting of muscle, decrease in muscle mass. See the entire definition of Atrophy
Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. See the entire definition of Autosomal
Autosomal dominant: A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes. (In contrast, autosomal recessive diseases require that the individual have two copies of the mutant gene.) Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children. Examples of autosomal dominant diseases include Huntington disease, neurofibromatosis, and polycystic kidney disease.
Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene. See the entire definition of Autosomal recessive
Blood pressure: The blood pressure is the pressure of the blood within the arteries. It is produced primarily by the contraction of the heart muscle. It's measurement is recorded by two numbers. The first (systolic pressure) is measured after the heart contracts and is highest. The second (diastolic pressure) is measured before the heart contracts and lowest. A blood pressure cuff is used to measure the pressure. Elevation of blood pressure is called "hypertension".
Breast cancer:Breast cancer is diagnosed with self- and physician-examination of the breasts, mammography, ultrasound testing, and biopsy. There are many types of breast cancer that differ in their capability of spreading to other body tissues (metastasis). Treatment of breast cancer depends on the type and location of the breast cancer, as well as the age and health of the patient. The American Cancer Society recommends that a woman should have a baseline mammogram between the ages of 35 and 40 years. Between 40 and 50 years of age mammograms are recommended every other year. After age 50 years, yearly mammograms are recommended.
Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread). See the entire definition of Cancer
Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane. See the entire definition of Cell
Chromosome: A visible carrier of the genetic information. See the entire definition of Chromosome
Chromosomes: The microscopically visible carriers of the genetic material. They are composed of deoxyribonucleic acid (DNA) and proteins and, under a microscope, look like little rods. See the entire definition of Chromosomes
Chronic: This important term in medicine comes from the Greek chronos, time and means lasting a long time. See the entire definition of Chronic
Cystic fibrosis: One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up. See the entire definition of Cystic fibrosis
Cytoplasm: All of the substance of a cell outside of the nucleus. The cytoplasm contains a number of different types organelles such as the mitochondria. See the entire definition of Cytoplasm
Dementia: Significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. See the entire definition of Dementia
Diabetes: Refers to diabetes mellitus or, less often, to diabetes insipidus. Diabetes mellitus and diabetes insipidus share the name "diabetes" because they are both conditions characterized by excessive urination (polyuria). See the entire definition of Diabetes
DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA. In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.) See the entire definition of DNA
DNA sequence: The precise ordering of the bases (A,T,G,C) from which the DNA is composed. See the entire definition of DNA sequence
Encephalopathy: Disease, damage, or malfunction of the brain. In general, encephalopathy is manifested by an altered mental state that is sometimes accompanied by physical changes. Although numerous causes of encephalopathy are known, the majority of cases arise from infection, liver damage, anoxia, or kidney failure. The term encephalopathy is very broad and, in most cases, is preceded by various terms that describe the reason, cause, or special conditions of the patient that leads to brain malfunction. For example, anoxic encephalopathy means brain damage due to lack of oxygen, and hepatic encephalopathy means brain malfunction due to liver disease. Depending upon the cause and severity of the condition, symptoms may range from mild alterations in mental status to severe and potentially fatal manifestations such as dementia, seizures, and coma.
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.
Eye color: The color of the iris. The genetics of eye color are complicated. Eye color is polygenic. It is determined by multiple genes. The eye color genes include EYCL1 (a green/blue eye color gene located on chromosome 19), EYCL2 (a brown eye color gene) and EYCL3 (a brown/blue eye color gene located on chromosome 15). There are clearly other genes that influence eye color. The once-held view that blue eye color is a simple recessive trait has been shown to be wrong. The genetics of eye color are so complex that almost any parent-child combination of eye colors can occur.
Fingerprint:1. The characteristic dermal ridges on the finger. This is the original meaning of fingerprint. 2. The characteristic pattern of the peptide fragments of a protein that have been subjected to electrophoresis and, at a right angle, chromatography. Peptide fingerprinting was invented by Vernon Ingram in 1957. 3. The characteristic pattern of DNA fragments identified by Southern hybridization or by PCR (polymerase chain reaction). DNA fingerprinting was invented by Alec Jeffreys in 1984.
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
Genes: The basic biological units of heredity. Segments of deoxyribonucleic acid (DNA) needed to contribute to a function. See the entire definition of Genes
Genetic: Having to do with genes and genetic information.
Genetic disease: A disease caused by an abnormality in an individual's genome. See the entire definition of Genetic disease
Genome: All of the genetic information, the entire genetic complement, all of the hereditary material possessed by an organism. See the entire definition of Genome
Heart: The muscle that pumps blood received from veins into arteries throughout the body. It is positioned in the chest behind the sternum (breastbone; in front of the trachea, esophagus, and aorta; and above the diaphragm muscle that separates the chest and abdominal cavities. The normal heart is about the size of a closed fist, and weighs about 10.5 ounces. It is cone-shaped, with the point of the cone pointing down to the left. Two-thirds of the heart lies in the left side of the chest with the balance in the right chest. See the entire definition of Heart
Hemochromatosis:Hemochromatosis (iron overload) is an inherited disorder in how the body absorbs and stores iron. The excess iron gives the skin a bronze color and damages the liver and other organs. Diabetes is also a part of the syndrome due to damage to the pancreas.
Heritable: Capable of being transmitted from parent to child.
High blood pressure: Also known as hypertension, high blood pressure is, by definition, a repeatedly elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above 140 with a diastolic pressure above 90. See the entire definition of High blood pressure
Human genome: All of the DNA that a person possesses. The human genome is made up of all of the DNA in our chromosomes as well as that in our mitochondria. (Each of us has, in fact, two genomes -- a large chromosomal genome and a much smaller mitochondrial genome.) Our genome also includes every gene we own plus all of our junk DNA The human genome is both "the treasury of human inheritance" and a vast dump (or recycling center). See the entire definition of Human genome
Human Genome Project: International effort aimed at identifying and sequencing (ordering) all of the bases in the human genome. American participation in this monumental undertaking has been supported by funds from the National Institutes of Health (NIH) and the Department of Energy (DOE).
Inheritance: Not something that is contained in a will, but rather a gene, chromosome or genome that is transmitted from parent to child. See the entire definition of Inheritance
Klinefelter syndrome: A chromosome condition in boys and men that is usually due to 47 chromosomes with XXY sex chromosomes. XXY is one of the most common chromosomal abnormalities. It occurs in 1 in 500 male births. Because it is so common, Klinefelter syndrome is considered an SCV (sex chromosome variation). See the entire definition of Klinefelter syndrome
Marfan syndrome: An inherited disorder of connective tissue characterized by abnormalities of the eyes, skeleton, and cardiovascular system. See the entire definition of Marfan syndrome
Mendelian: Referring to the great Moravian/Bohemian biologist Gregor Mendel (1822-84) who set forth the basic laws that constitute the foundation of classical genetics. Mendelian inheritance is the manner in which genes and traits are passed from parents to their children. The modes of Mendelian inheritance are autosomal dominant, autosomal recessive, X-linked dominant and X-linked recessive. See the entire definition of Mendelian
Mitochondria: Normal structures responsible for energy production in cells. Mitochondria are located in the cytoplasm outside the nucleus of the cell. They consist of two sets of membranes, a smooth continuous outer coat and an inner membrane arranged in tubules or in folds that form plate-like double membranes (cristae). See the entire definition of Mitochondria
Mitochondrial: Referring to mitochondria. The mitochondria are normal structures called organelles in cells. They are located in the cell's cytoplasm outside the nucleus. See the entire definition of Mitochondrial
Mitochondrial disease: Mutations (changes) in the mitochondrial chromosome are responsible for a number of disorders including, for example:
An eye disease called Leber's hereditary optic atrophy;
A type of epilepsy called MERRF which stands for Myoclonus Epilepsy with Ragged Red Fibers; and
A form of dementia called MELAS for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes.
Mitochondrial DNA: Mitochondrial DNA (mtDNA) is the DNA of the mitochondrion, a structure situated in the cytoplasm of the cell rather than in the nucleus (where all the other chromosomes are located). See the entire definition of Mitochondrial DNA
Mitochondrial inheritance: The inheritance of a trait encoded in the mitochondrial genome. Because of the oddities of mitochondria, mitochondrial inheritance does not obey the classic rules of genetics. Persons with a mitochondrial disease may be male or female but they are always related in the maternal line and no male with the disease can transmit it to his children. See the entire definition of Mitochondrial inheritance
Mitochondrion: Singular of mitochondria. The mitochondria are normal structures called organelles in cells. They are located in the cell's cytoplasm outside the nucleus. See the entire definition of Mitochondrion
Multifactorial inheritance: The type of hereditary pattern seen when there is more than one genetic factor involved and, sometimes, when there are also environmental factors participating in the causation of a condition. See the entire definition of Multifactorial inheritance
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
Nucleus: 1) In cell biology, the structure that houses the chromosomes. 2) In neuroanatomy, a group of nerve cells.
Obesity: The state of being well above one's normal weight. See the entire definition of Obesity
Optic: Having to do with vision.
Polygenic: Pertaining to two or more genes. As opposed to monogenic. See the entire definition of Polygenic
Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein. See the entire definition of Protein
Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers. See the entire definition of Recessive
Respiration:1. The act of inhaling and exhaling air in order to exchange oxygen for carbon dioxide. Synonymous with breathing and ventilation. 2. The cellular metabolic process by which oxygen is taken in, substances are oxidized, energy is released, and carbon dioxide and oxidized products are given off.
Sickle cell anemia: A genetic blood disease due to the presence of an abnormal form of hemoglobin, namely hemoglobin S. Hemoglobin is the molecule in red blood cells that transports oxygen from the lungs to the farthest areas of the body. See the entire definition of Sickle cell anemia
Skin color: The color of skin which is complexly determined. Skin color depends on many factors including reddening caused by inflammation, the hemoglobin level in the blood, and the darkening caused by increased deposition of the pigment melanin. Melanin itself is a polymer that comes in two types -- a red-yellow form known as pheomelanin and a black-brown form known as eumelanin. See the entire definition of Skin color
Sperm: A sperm is the male "gamete" or sex cell. It combines with the female "gamete," called an ovum, to form a zygote. The formation process is called "fertilization." (see ovum, zygote).
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
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
Trisomy: The presence of three copies of a chromosome rather than the normal two. The most common trisomies in newborns are trisomy 13 (Patau syndrome), trisomy 18 syndrome (Edwards syndrome) and trisomy 21 (Down syndrome). The most common trisomy among spontaneous abortions is trisomy 16. See the entire definition of Trisomy
Turner syndrome: A chromosome disorder in females that is characterized by the absence of all or part of a second sex chromosome in some or all cells. The condition occurs in 1 in 2,500 to 3,000 girls born. See the entire definition of Turner syndrome
X-linked: On the X chromosome. "Linked" in genetics does not mean merely associated. An X-linked gene travels with the X chromosome and therefore is part of the X chromosome.
High blood pressure, also known as hypertension, is a repeatedly
elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above
140 with a diastolic pressure above 90. There are two causes of high blood pressure, primary and secondary. Primary high blood pressure is much more common that secondary and its basic causes or underlying defects are not always known. It is known that a diet high in salt increases the risk for high blood pressure, as well as high cholesterol. Genetic factors are also a primary cause. Secondary high blood pressure is generally caused by another condition such as renal hypertension, tumors, and other conditions. Treatment for high blood pressure is generally lifestyle changes and if necessary, diet.
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased.
Diabetes mellitus is a chronic condition characterized by high levels of sugar (glucose) in the blood. The two types of diabetes are referred to as type 1 (insulin dependent) and type 2 (non-insulin dependent). Symptoms of diabetes include increased urine output, thirst, hunger, and fatigue. Treatment of diabetes depends on the type.
Deep vein thrombosis (DVT) is a blood clot in a vein located deep in the muscles of the legs, thighs, pelvis (lower torso), or arms. The most common symptoms of a deep vein thrombosis are swelling and pain in the leg that has the blood clot. A DVT is difficult to diagnose without specific tests in which the deep vein system can be examined.
Cholesterol is naturally produced by the body, and is a building block for cell membranes and hormones. Low-density lipoprotein (LDL) cholesterol is the "bad" cholesterol, conversely, high-density lipoprotein (HDL) cholesterol is the "good" cholesterol. High cholesterol treatment includes lifestyle changes (diet and exercise), and medications such as statins, bile acid resins, and fibric acid derivatives.
Breast cancer is the most common cancer in women and the second most common cause of cancer death in women in the U.S. Symptoms include a lump in the breast or underarm area, nipple pain, change in breast size or shape, an inverted nipple, nipple discharge, and breast skin changes. Treatment may involve chemotherapy, radiation therapy, biological therapy, hormone therapy, or surgery.
Depression is an illness that involves the body, mood, and thoughts and affects the way a person eats and sleeps, the way one feels about oneself, and the way one thinks about things. The principal types of depression are major depression, dysthymia, and bipolar disease (also called manic-depressive disease).
Eczema is a general term for many types dermatitis (skin inflammation). Atopic dermatitis is the most common of the many types of eczema. Other types of eczema include: contact eczema, allergic contact eczema, seborrheic eczema, nummular eczema, stasis dermatitis, and. dyshidrotic eczema.
A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th week of pregnancy. The cause of a miscarriage cannot always be determined. The most common causes of a miscarriage in the first trimester are collagen vascular disease (lupus), hormonal problems, diabetes, chromosomal abnormalities, and congenital abnormalities of the uterus.
Parkinson's disease is a slowly progressive neurologic disease characterized by a fixed inexpressive face, a tremor at rest, slowing of voluntary movements, a gait with short accelerating steps, peculiar posture and muscle weakness, caused by degeneration of an area of the brain called the basal ganglia, and by low production of the neurotransmitter dopamine. Most patients are over 50, but at least 10 percent are under 40.
Bipolar disorder (or manic depression) is a mental illness characterized by depression, mania, and severe mood swings. Treatment may incorporate mood stabilizer medications, antidepressants, and psychotherapy.
An allergy refers to a misguided reaction by our immune system in response to bodily contact with certain foreign substances. When these allergens come in contact with the body, it causes the immune system to develop an allergic reaction in people who are allergic to it. It is estimated that 50 million North Americans are affected by allergic conditions. The parts of the body that are prone to react to allergies include the eyes, nose, lungs, skin, and stomach. Common allergic disorders include hay fever, asthma, allergic eyes, allergic eczema, hives, and allergic shock.
Pernicious anemia is a blood disorder in which the body does not make enough red blood cells due to a lack of vitamin B12 in the blood. Pernicious anemia can develop from a lack of a protein that helps the body absorb vitamin B12, not getting enough B12 in the diet, and certain intestinal conditions that interfere with the absorption of vitamin B12 such as Crohn's disease, celiac sprue, or ulcerative colitis. There is no cure for pernicious anemia, thus treatment is life-long.
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as trisomy 21. Most individuals with Down syndrome have widely recognizable physical characteristics. The severity of Down syndrome ranges from mild to severe. Diagnostic testing for Down syndrome include amniocentesis, chorionic villus sampling, and percutaneous umbilical cord sampling. The most common risk factor for Down syndrome is a woman's age.
Marfan syndrome is hereditary condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: dislocation of one or both lenses of the eye; a protruding or indented breastbone; scoliosis; flat feet; aortic dilatation; dural ectasia; stretch marks; hernia; and lung collapse. Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.
Cystic fibrosis is a disease of the mucus and sweat glands. Cystic fibrosis is an inherited disease. The outcome of the disease leaves the body malnourished, bulky and fouls smelling stools, vitamin insufficiency, gas, painful or swollen abdomen, infertility, susceptible to heat emergencies, and respiratory failure. There is no cure for cystic fibrosis, treatment of symptoms is used to manage the disease.
Hydrocephalus is an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain. The fluid is often under increased pressure and can compress and damage the brain. Symptoms of hydrocephalus vary with age, progression of the disease, and individual tolerance to the condition. Hydrocephalus is most often treated by surgery in which a shunt system is inserted.
Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited disorder. Early symptoms include mood swings, apathy, depression, and anger uncharacteristic of the individual. Judgement, memory, and other cognitive functions may become impaired. Presymptomatic testing is available for individuals who have a family history of Huntington's disease. Treatment includes medication and therapy for symptoms.
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal hemoglobin. Symptoms may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury. Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain.
Tourette syndrome is disorder, which symptoms include involuntary facial tics, motor tics, and vocal tics. The cause of Tourette syndrome is not known. ADHD is associated with Tourette syndrome. Treatment includes medication, psychotherapy, and in severe cases surgery.
Cerebral palsy (CP) is an abnormality of motor function and postural tone acquired at an early age (even before birth). Cerebral palsy is generally caused by brain trauma. Types of cerebral palsy include: spastic, choreoathetoid, and hypotonic. There is no cure for cerebral palsy, and treatment is generally managing the symptoms of the condition.
Connective tissue disease is when the body's connective tissues come under attack, possibly becoming injured by inflammation. Inherited connective tissue diseases include Marfan syndrome and Ehlers-Danlos syndrome. Systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymositis, and dermatomyositis are examples of connective tissue diseases that have no known cause.
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
G6PD deficiency (Glucose 6-phosphate dehydrogenase) leads to a condition called hemolytic anemia. Causes of G6PD deficiency is an abnormal gene located in the X-chromosome, therefore, it is more common in males. Hemolytic anemia caused by G6PD deficiency generally occurs after exposure to malaria medications, antiitching drugs, and fava beans. Pneumonia and other infections can also precipitate hemolytic anemia in individuals with G6PD deficiency. Treatment is generally discontinuing the drug or compound treating infection. Blood transfusions are necessary in some individuals.
Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of Wolff-Parkinson-White syndrome include tachycardia, dizziness, palpitations, fainting, and shortness of breath. Wolff-Parkinson-White syndrome is a common cause of paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is caused by mutations in the PRKAG2 gene.
Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and skin that stretches easily. There are seven types of Ehlers-Danlos syndromes: Classical type, Hypermobility type, Vascular type, Kyphoscoliosis type, Arthrochalsia type, Dermatosparaxis type, and Tenascin-X Deficient type. Treatment for Ehlers-Danlos syndromes depends on which symptoms are present.
Polycystic kidney disease (PKD) is characterized by numerous cysts in the kidneys. Polycystic kidney disease is a genetic disorder. There are two major inherited forms of PKD, autosomal dominant PKD, and autosomal recessive PKD. Symptoms include headaches, urinary tract infections, blood in the urine, liver and pancreatic cysts, abnormal heart valves, high blood pressure, kidney stones, aneurysms, and diverticulosis. Diagnosis of PKD is generally with ultrasound, CT or MRI scan. There is no cure for PKD, so treatment of symptoms is usually the general protocol.
Diabetes insipidus is a condition in which the patient has frequent urination. Symptoms of diabetes insipidus include irritable, listless, fever, vomiting, or diarrhea due to the loss of large volumes of urine. There are three types of diabetes insipidus, central, nephrogenic, dipsogenic, and gestational. Treatment depends upon the type of diabetes insipidus.
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.
Ehlers-Danlos syndromes are a group of disorders which share common
features including easy bruising, joint hypermobility (loose joints),
skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.
The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring. They are
categorized according to the form of genetic transmission into different types with many
features differing between patients in any given type. The fragile skin and loose joints is often a result of abnormal genes that produce abnormal proteins that
confer an inherited frailty of collagen (the normal protein "glue" of our tissues).
In 2001, researchers discovered a new form of Ehlers-Danlos syndrome that is caused by an inherited abnormality in a protein other than collagen that also normally
plays a role in binding together the cells of our tissues (including the skin, tendons, muscle...
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