Tuberous sclerosis

Overview Tuberous sclerosis, sometimes called tuberous sclerosis complex or TSC, is a rare genetic disorder that leads to the formation of benign tumors throughout many areas of the body. While the tumors themselves are not dangerous, they can cause other serious problems. The condition is usually first seen in infancy or childhood, although sometimes it is so mild that some patients are not diagnosed until they are adults. Sometimes it even goes undiagnosed. Conversely, the disorder can leave some people with severe disabilities. Tuberous sclerosis may be inherited, or it can be the result of a spontaneous mutation within a person’s genetic makeup. Children who have a parent with the disorder have a fifty percent chance of inheriting it…

Tuberous Sclerosis, or TSC, is a genetically inherited disease that is characterized by the numerous benign tumors in many parts of the body. It can cause symptoms such as developmental delay, autism, tumor, and skin abnormalities. Tuberous Sclerosis is caused by a mutation on the TSC1 gene located on chromosome 9 or the TSC2 gene located on chromosome 16. These genes make a protein called tuberin, and scientist believe Tuberous Sclerosis is caused when those genes mutate and produce more…

Tuberous sclerosis (TSC) is complex, multifaceted genetic disorder that results in production of hamartomatous lesions that may affect virtually every organ system of the body. The best-known cutaneous manifestation, presented in this vignette, of TSC is adenoma sebaceum. This lesion is an angiofibroma (cutaneous hamartoma) and the name is a misnomer, as it is not related to excessive sebum or acne. Flat, reddish, macular lesions develop first, which can be initially mistaken for freckles. Some…

Therefore, LAM can be considered a “multisystem” disorder with symptoms affecting various parts of the body (“Lymphangioleiomyomatosis - NORD (National Organization for Rare Disorders).”). The symptoms, and the severity of them, depends on the type of LAM , such as “Sporadic LAM” or LAM in conjunction with the disease tuberous sclerosis complex. Regardless, some symptoms are more prevalent than others, regardless of the type. Specifically, “50 percent of women who have LAM develop pneumothorax,…

Chronic diseases can be quite debilitating. A chronic disease is a disease that is long-lasting and can be treated but not cured (Chronic Disease, n.d.). This means that, although the symptoms of the disease may be managed, it will never go away completely. Multiple sclerosis is one of these treatable but incurable diseases. Even with treatment, a person diagnosed with multiple sclerosis will always experience some degree of disability. What is multiple sclerosis? How does it present itself? How…

Multiple Sclerosis is an immune-mediated disease. This immune mediated process is directed towards the central nervous system. Through this process it causes the immune system to surround and attack the myelin around the nerve fibers in the body of the victim. Once this myelin has been stripped from the nerve endings, it is very hard for it to regenerate or repair itself. These attacks against the body interrupts and distorts nerve impulses traveling to the brain. MS is a common name for…

There are about 300,000 persons with Multiple Sclerosis in North America. I first heard about MS my first year of college. I read a book named living with MS. It described In great detail how her life was affected by MS and her determination to not let MS define her, So what is MS? MS, is also known as multiple sclerosis. It is the degeneration of the myelin sheet; it’s a disabling disease of the central nervous system that interrupts the passage way of information inside the brain, and between…

that lead from the spinal cord to the muscles of the body, or both. Spasms and exaggerated reflexes indicate damage to the upper motor neurons. A progressive wasting (atrophy) and weakness of muscles that have lost their nerve supply indicate damage to the lower motor neurons. Lower Motor Neuron The discovery of the genetic basis of hereditary lower motor neuron disease (LMND) and the recognition of multifocal motor neuropathy as a distinct clinical entity necessitate a new classification of…

of a compound, preclinical development, increasingly complicated clinical trials in human subjects, regulatory approval, and post-market surveillance. This entire process can take up to 15 years and cost hundreds of millions of euro. (1) For every drug that gets approved by the Food and Drug Administration (FDA) in the US, 5,000 to 10,000 compounds don't make it through the process, making the whole process very costly and financially risky. (1) A drugs lifecycle ends when or if it is taken off…

Multiple Sclerosis is a disease where the immune system eats away at the protective, myelin or layer covering nerves. This disease is also known as MS, which is Multiple Sclerosis abbreviated. MS has a very big effect on a person and their family, knowing this because my aunt was diagnosed with MS before she passed away. Currently there is not a known cause from Multiple Sclerosis, but science have theories. Some believe that it is a result of combination of genetics, and some believe it is…