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Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy A form of muscular dystrophy that typically begins before age 20 with slowly progressive weakness of the muscles of the face, shoulders, and feet. The severity of the disease is quite variable. Although most people with facioscapulohumeral muscular dystrophy (FSHD) retain the ability to walk, about 20% require a wheelchair. Life expectancy is not shortened. The diagnosis can be confirmed by a DNA test disclosing the deletion of copies of a repeat motif called D4Z4 on chromosome 4. FSHD is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the mutant chromosome 4. About 10-30% of cases are due to a new mutation. Prenatal testing is available.
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Dystrophy
Partial atrophy of tissue or an organ as a result of imperfect cell nutrition.
Feet
The plural of foot, both an anatomic structure and a unit of measure. As an anatomic structure, the foot is the end of the leg on which a person normally stands and walks. The foot is a particularly complex structure made up of dozens of bones that work together with muscles and tendons to execute precise movements. The bones of the foot include the 10 metatarsal bones and the 28 phalanges (toe bones).
Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
Diagnosis
The determination of the presence of a specific disease or infection, usually accomplished by evaluating clinical symptoms and laboratory tests.
Deletion
Loss of a segment of DNA from a chromosome (and hence from the genome).
Chromosome
A structural unit within a eukaryotic nucleus that carries genes. A chromosome consists of a long, continuous strand of DNA and associated proteins.
Autosomal
"Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes. People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female). "
Dominant
A genetic trait is considered dominant if it is expressed in a person who has only one copy of that gene. (In genetic terms, a dominant trait is one that is phenotypically expressed in heterozygotes). A dominant trait is opposed to a recessive trait which is expressed only when two copies of the gene are present. (In genetic terms, a recessive trait is one that is phenotypically expressed only in homozygotes).
Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.
SIMILAR TERMS--------------------------------------
Facial canal introitus
In anatomy, an introitus is an entrance, one that goes into a canal or hollow organ. The introitus of the facial canal is the entrance to the facial canal, a passage in the temporal bone of the skull through which the facial nerve (the 7th cranial nerve) travels.
Facial muscle
One of the 43 muscles in the human face. The facial muscles convey basic human emotions such as anger, sadness, fear, surprise, disgust, contempt and happiness by very clear facial signals.
Facing
Tooth colored overlay on the visible portion of a crown; may be acrylic, composite or porcelain.
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F (symbol)
A much used symbol, F stands for fractional concentration; free energy; Fahrenheit; visual field; fluorine; force; filial generation, followed by subscript numerals indicating specified matings such as F1); the amino acid phenylalanine; the coefficient of inbreeding , etc.
Facelift
A surgical procedure designed to make the face appear younger by pulling loose facial skin taut. With age or excessive sun exposure, wrinkled creased skin can develop on the face, neck or forehead along with fat deposits and folds around the jaws and jowls. While a facelift cannot stop the aging process, it may "turn back the clock" in appearance. Recovery time is usually 1 week, and the results last approximately 10 years. Additional procedures to supplement a facelift -- including necklift, blepharoplasty (eyelid surgery), liposuction, autologous fat injection, removal of buccal (cheek) fat pads, forehead lift, and browlift; chemical or laser peel; and malar (cheek), submalar, or chin implants -- may be necessary to achieve the desired results. Although they are infrequent, risks and complications of facelift surgery include bleeding; hematoma; bruising; infection; neurological dysfunction (loss of muscle function or sensation), which is usually temporary; widened or thickened scars; loss of hair around the incision site; asymmetry (unevenness between two sides); and skin necrosis (loss of skin due to tissue death).
Facelift surgery risks
Although infrequent, the risks and complications of facelift surgery include: bleeding, hematoma, bruising; infection; neurological dysfunction (loss of muscle function or sensation), which is usually temporary; widened or thickened scar; loss of hair (around the incision site), asymmetry (unevenness between two sides); and skin necrosis (loss of skin from tissue death).
Facial canal introitus
In anatomy, an introitus is an entrance, one that goes into a canal or hollow organ. The introitus of the facial canal is the entrance to the facial canal, a passage in the temporal bone of the skull through which the facial nerve (the 7th cranial nerve) travels.
Facial muscle
One of the 43 muscles in the human face. The facial muscles convey basic human emotions such as anger, sadness, fear, surprise, disgust, contempt and happiness by very clear facial signals.
Facioscapulohumeral muscular dystrophy
Factor V
A coagulation factor needed for the normal clotting of blood. Also known as proaccelerin.
Factor V Leiden
A genetic disorder of blood coagulation (clotting) that carries an increased risk of venous thromboembolism - the formation of clots in veins that may break loose and travel through the bloodstream to the lungs or brain. On the molecular level, factor V Leiden is characterized by a G to A substitution at nucleotide 1691 in the gene for factor V that causes a single amino acid replacement in the factor V protein. On the clotting level, factor V Leiden is inactivated about 10 times slower than normal factor V and persists longer in the circulation, resulting in increased generation of thrombin and a hypercoagulable state (thrombophilia).
Factor VIII
Factor eight, a key factor in the process of blood coagulation (clotting). Lack of normal factor VIII causes hemophilia (hemophilia A). The gene for classic hemophilia was long known to be on the X chromosome. Females carry the gene and transmit it to their hemophiliac sons. Female carriers are normal since they have another X chromosome that contains a normal gene to make factor VIII. Each of their sons has a one-half (50:50) risk of being a hemophiliac. Because the gene for hemophilia was clearly on the X chromosome, it was correctly inferred that the normal gene for Factor VIII was on the X. Factor VIII is also known as antihemophiliac factor or antihemophiliac globulin.
Factor X
A coagulation factor, a substance in blood essential to the normal clotting process. Production of factor X takes place in the liver and requires vitamin K. The gene for factor X is located on chromosome 13 and is in band 13q34.
Factor, colony-stimulating
A laboratory-made agent similar to a normally existing substance in the body that stimulates the production of blood cells. The colony-stimulating factors (CSFs) include granulocyte colony-stimulating factors (G-CSF) and granulocyte-macrophage colony-stimulating factors (GM-CSF). Treatment with colony-stimulating factors can help the blood-forming tissue recover from the effects of chemotherapy and radiation therapy.
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