What is the sickness of the crab?
The disease is a genetic disorder inherited by the autosomal recessive gene formula responsible for the production of the dominant characteristics. Specifically, it is a dominant feature associated with this disease formation of globoid cells that are defined as cells with multiple cores. This unusual development leads to damage and final deterioration of myelin sheath, a protective layer of many nerves, which also lends the pigment to the "white matter" of the brain. Unfortunately, Krabbe's disease, in which there is no medicine, most often affects infants younger than six months old, often with fatal results.
While this disorder includes a recessive gene, the crabbe disease is classified as a member of the family of degenerative disorders known as leukodystrophy. However, each leukodystrophy involves a different myelin regulating gene that can be X-connected, dominant or recessive. Despite this difference, all these disorders directly cause myelin to destroy the brain mass, only by another mechanism. By a particular geneticWho is a factor involved in the crab -disease is the mutation of the GALC gene, which results in a lack of galactosylceramidase, one of the enzymes needed to regulate myelin metabolism.
As mentioned above, Krabbe disease usually occurs in infants, usually between three and six months of age. Most of the time, however, these infants at birth seem perfectly normal. It is not only until the delay in the development of the engine is not reported that this failure can be suspicious. Other symptoms of onset include seizures and rigid limbs. These symptoms may be accompanied by difficult feeding with frequent reversal, which are often mistakenly attributed to colic.
In very rare cases, the disease can be late and present themselves in older children and even adults who usually experience a slower disease progress. In general, however, the prognosis for children under two years of age is bad. MostIn fact, these children actually succumb to illness. Hunter Kelly, the son of the former Quarterback Buffalo Bill, Jim Kelly, lived until he was eight years old, although he was diagnosed with this disorder in early childhood. In honor of their son, Kelly and his wife created the Hunter's Hope Foundation Foundation, a non -profit organization dedicated to providing resources and support to parents with Krabbe Chower.
Treatment of Krabbe disease is minimal and generally aims to solve obvious symptoms. However, some research suggests that gift of bone marrow or umbilical blood (stem cells) with diagnosis of diagnosis soon proved to be a certain benefit. Meanwhile, research conducted by National Health Institutes and the National Institute of Neurological Disorders and Strokes continues. Other organizations that provide support and resources except Hunterůhope include the Myelin and United Leukodystrophy Foundation.