As a result, your child may develop fatigue in his or her legs and gradually weaken and become less physically active. This causes pressure and compression of the upper spinal cord.
Your child may also develop a condition in which the membranes that surround the spinal cord may become thick and scarred. Pressure from these fluids can cause other problems that may cause severe headaches, interfere with vision and change your child's mental state. Many neurological problems are caused by buildup of excess fluids in your child's brain. Brain and nervous system complicationsĪ variety of neurological complications may be present and continue to develop in children with Hunter syndrome. Enlargement of the liver and spleen may increase pressure in the abdomen, causing a hernia. Hernias associated with Hunter syndrome can become quite large and are often one of the first signs of the disorder. A hernia occurs when soft tissue, usually part of the intestine, pokes through a weak spot or tear in the lower abdominal wall. Those with milder cases may reach normal or near-normal height. Children with these abnormalities can develop irregularly shaped vertebrae and spines, ribs, arms, fingers, legs, and pelvises.īone abnormalities may cause many people with Hunter syndrome to be abnormally short. The group of abnormalities typically seen in the bones of people with Hunter syndrome is called dysostosis multiplex. If your child is in pain, he or she will likely move less, which can lead to more stiffness and pain. Joint stiffness is caused by swelling of joint connective tissues and abnormalities of cartilage and bones. This reduces your child's growth, causing pain and physical malformations and making it difficult for him or her to move. The storage of undigested complex sugar molecules in connective tissues results in abnormalities in bones, joints and ligaments. Skeletal and connective tissue complications This in turn can result in high blood pressure and narrowing of arteries in the lungs. The thickening of tissue can also cause narrowing of the aorta and other blood vessels. As the disease progresses, these conditions often become worse and typically result in heart failure. As a result, the heart and other parts of the body don't receive blood efficiently. Thickening of heart tissue can cause improper closing of heart valves. Sleep apnea, a condition in which breathing is intermittently interrupted during sleep, is often present because of airway constriction.
Children often have chronic ear and sinus infections, respiratory infections, and pneumonia. Respiratory complicationsĪn enlarged tongue, thickened gums, and thickening of the nasal passages and windpipe (trachea) make breathing difficult. Complications can affect the lungs, heart, joints, connective tissue, and brain and nervous system. If the X chromosome of a male is defective, however, there isn't another normal X chromosome to compensate for the problem.Ī variety of complications can occur with Hunter syndrome depending on the type and severity of the disease. If one of the X chromosomes is defective, their normal X chromosome can provide a functioning gene. Girls are far less at risk of developing this disease because they inherit two X chromosomes. Hunter syndrome nearly always occurs in males. But mothers aren't affected by the disease themselves and likely don't know that they have this defective chromosome. Hunter syndrome is what's known as an X-linked recessive disease, which means that women carry the defective disease-causing X chromosome and can pass it on. Hunter syndrome is caused by a defective chromosome, and a child must inherit the defective chromosome to develop the disease. There are two major risk factors for developing Hunter syndrome: A woman who is a carrier of an X-linked recessive disorder has a 25% chance of having an unaffected son, a 25% chance of having an affected son, a 25% chance of having an unaffected daughter and a 25% chance of having a daughter who also is a carrier. Women can pass down X-linked recessive disorders such as X-linked agammaglobulinemia. X-linked inheritance pattern with carrier mother
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