What are the different rare childhood diseases?

One of the biggest challenges of modern drugs is the diagnosis and treatment of rare childhood diseases. Most of these conditions have much better results when diagnosed and treated early. Three of the most unusual examples of rare childhood diseases include Menkes' disease, Moebius syndrome, congenital insensitivity to pain (CIP) and leukodystrophy.

Menkes' disease is a genetic defect affecting copper metabolism, which is usually fatal in the first decade of life. These rare childhood diseases occur primarily in men and leads to the body to store copper abnormally in certain tissues. In these individuals, copper is stored at a low level in the liver and brain. The abnormally high level of copper is found in their intestinal lining and kidneys. Typically, the child develops normally for six to eight weeks before exposing the poor muscles, inability, seizures, brain damage, low body temperature and unusual hair growth.

deficiency 6 and 7.Cranial nerves may have for the followingEdek Moebius syndrome. Since birth, it is clear as a lack of facial expressions resulting from the paralysis of the face. Children with Moebius syndrome cannot suck or move their eyes laterally; They cannot frighten, smile or flash. Like many rare childhood diseases, Moebius syndrome differs in the severity of symptoms. Some of the common complications include the cleft floor, hearing damage, reduced tongue movement, weakness of the upper body, excessive drooling, difficult swallowing, crossed eyes and deformation of the hand or legs.

Congenital insensitivity to pain is unusual even among rare childhood diseases. The child has a normal feeling of touch, except for the connection with pain. Without a feeling of pain, the child must be carefully monitored to prevent serious injuries. Adults with disorders have a higher incidence of mortality to traumatic or risky behavior, but otherwise The disease does not affect life. The cause of the state is mutationIn the gene responsible for the production of sodium channels on neurons associated with the advent of pain.

leukodystrophy is a class of rare childhood diseases in which the central nervous system is disrupted by abnormal production and storage of myelin. Myelin insulates the nerves in the way the rubber insulates the electric wire, improved conductivity and the protection of the nerve fiber from damaging compounds. There are more than 40 forms of leukodystrophy, but common symptoms are a progressive loss of muscles, walking, speech, reaction times, vision, speech, behavior and general development. Less common symptoms include hormonal imbalance, gradually decreasing heart rhythm, premature atherosclerosis from lipid accumulation in arteries and seizures. Most leukodystrophy is not diagnosed at birth due to slow onset.