Others make RNA molecules that are involved in chemical reactions in the body. Some genes can turn other genes on or off. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes serve as the instructions to make proteins. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.Įach gene performs a different job in our cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. Genes are part of our DNA, the basic genetic material found in each of our body's cells. Genetics and Rare Diseases Information Centerįinding Reliable Health Information OnlineUnderstanding what genes are and how changes in genes may affect the body can help you on the journey to diagnosis and treatment of a genetic disease. National Center for Biotechnology Information ![]() NINDS Charcot-Marie-Tooth Disease Information Page National Organization for Rare Disorders (NORD) Ultimately, the GARS gene and its family may provide a rich new resource for scientists investigating inherited and non-inherited neurological diseases.Īdditional Resources for Charcot-Marie-Tooth DiseaseĬharcot Marie Tooth Disease - Genetics Home Reference And two defective forms of the gene implicated in Lou Gehrig's disease are known to interact with a GARS family member. CMT type 2D is inherited in an autosomal dominant fashion.Įven though the GARS gene is implicated in only two specific types of CMT, this discovery will guide researchers in studying other forms of these diseases, as well as other neurological disorders.īecause carpal tunnel syndrome affects the hands and the forearms, scientists may now investigate whether the GARS gene plays some role in this disorder. The newly discovered GARS gene (see Gene Discovery Opens Door to Further Research In Inherited Neurological Disorders ) is implicated in CMT type 2D, a form of CMT that primarily affects the hands and the forearms. CMT type 2, the less common of the two classes, can be further separated into at least six subtypes, caused by defects in different genes. In CMT type 2, the axons' responses are diminished due to a defect within the axons themselves. ![]() In CMT type 1, the peripheral nerves' axons - the part of the nerve cell that transmits electrical signals to the muscles - lose their protective outer coverings, their myelin sheaths. Life expectancy is usually normal.ĬMT disease can be divided into two classes, depending on where the dysfunction occurs in the peripheral nerves: There is no cure for the disease, but there are treatment options, including physical therapy and bracing. People with CMT disease usually begin to experience symptoms in adolescence or early adulthood. Other symptoms of the disorder may include foot-bone abnormalities such as high arches and hammer toes, problems with hand function and balance, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, occasional partial sight and/or hearing loss, and, in some individuals, scoliosis (curvature of the spine). The first sign of CMT is generally a high arched foot or gait disturbances. ![]() CMT is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes.
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