Health and Fitness

 Spondyloepiphyseal Dysplasia Summary Spondyloepiphyseal dysplasia congenita (SEDC) is a rare genetic disorder characterized by deformities that begin before birth (prenatally), including skeletal and joint malformations involving the spine, hips and knees, and abnormalities affecting the eyes. Such growth deformities lead to children being shorter than normally would be expected based upon their age and gender (short stature or dwarfism). Some individuals may develop hearing and vision problems. Additional findings can occur in some cases. Intelligence is unaffected. SEDC is caused by mutations in the type II collagen (COL2A1) gene. The disorder is inherited in an autosomal dominant manner, but most cases occur due to a new (de novo) mutation with no previous family history. Introduction Spondyloepiphyseal dysplasia is a form of skeletal dysplasia (osteochondrodysplasia), a broad term for a group of disorders characterized by abnormal growth or development of cartilage or bone. SE...

 Hirschsprung's disease Overview Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon. Without these nerve cells stimulating gut muscles to help move contents through the colon, the contents can back up and cause blockages in the bowel. A newborn who has Hirschsprung's disease usually can't have a bowel movement in the days after birth. In mild cases, the condition might not be detected until later in childhood. Uncommonly, Hirschsprung's disease is first diagnosed in adults. Surgery to bypass or remove the diseased part of the colon is the treatment. Hirschsprung's disease In children with Hirschsprung's disease, nerves fail to form in all or part of the large intestine (colon). Waste from digestion cannot pass through the part of the colon lacking nerve ti...

  Vogt-Koyanagi-Harada (VKH) Disease Disease Overview Vogt-Koyanagi-Harada disease is a rare disorder of unknown origin that affects many body systems, including as the eyes, ears, skin, and the covering of the brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo, nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along, with whitening (loss of pigmentation) of the hair and eyelashes (poliosis). Signs & Symptoms Vogt-Koyanagi-Harada disease is initially characterized by headaches, very deep pain in the eyes, dizziness (vertigo), and nausea. These symptoms are usually followed in a few weeks by eye inflammation (uveitis) and blurring of vision. This may occur in both eyes at the same time or in one eye first and, a few days later, in the other. The retina may detach and hearing loss may become apparent. The chronic stage follows...

 Wyburn-Mason Syndrome Summary Wyburn-Mason syndrome is a rare nonhereditary disorder that is present at birth (congenital). Affected infants have arteriovenous malformations (AVMs), which are developmental abnormalities affecting the blood vessels, specifically the arteries, veins and capillaries. Arteries typically carry oxygen-rich blood from the heart to body cells, while veins transport oxygen-deficient blood to the heart and lungs for the exchange of oxygen and carbon dioxide. The network of very tiny blood vessels (capillaries) that normally connects arteries and veins may be absent and the arteries and veins may be directly linked together forming a malformation. Without the capillaries, there can be damage to the walls of the arteries and veins, causing abnormal and high blood flow and leakage, and lack of blood flow further downstream. Larger AVMs may consist of a tangled mass of abnormal or malformed blood vessels (the nidus). AVMs associated with Wyburn-Mason syndrome a...

 Erythema Multiforme Overview Morphea (mor-FEE-uh) is a rare condition that causes painless, discolored patches on your skin. Typically, the skin changes appear on the belly, chest or back. But they might also appear on your face, arms and legs. Over time the patches may become firm, dry and smooth. Morphea tends to affect only the outer layers of your skin. But some forms of the condition also affect deeper tissues and may restrict movement in the joints. Morphea usually improves on its own over time, though recurrences are common. In the meantime, medications and therapies are available to help treat the skin discoloration and other effects. Symptoms Signs and symptoms of morphea vary depending on the type and stage of the condition. They include: Reddish or purplish oval patches of skin, often on the belly, chest or back Patches that gradually develop a lighter or whitish center Linear patches, especially on the arms or legs and possibly the forehead or scalp A gradual change in...

 Dementia Paralytica Overview Dementia is a term for several diseases that affect memory, thinking, and the ability to perform daily activities. The illness gets worse over time. It minly affects older people but not all people will get it as they age. Things that increase the risk of developing dementia include: *age (more common in those 65 or older)  *high blood pressure (hypertension) *high blood sugar (diabetes) *being overweight or obese *smoking *drinking too much alcohol *being physically inactive *being socially isolated *depression. Dementia is a syndrome that can be caused by a number of diseases which over time destroy nerve cells and damage the brain, typically leading to deterioration in cognitive function (i.e. the ability to process thought) beyond what might be expected from the usual consequences of biological ageing. While consciousness is not affected, the impairment in cognitive function is commonly accompanied, and occasionally preceded, by changes in moo...

 Sepsis Overview Sepsis is a serious condition in which the body responds improperly to an infection. The infection-fighting processes turn on the body, causing the organs to work poorly. Sepsis may progress to septic shock. This is a dramatic drop in blood pressure that can damage the lungs, kidneys, liver and other organs. When the damage is severe, it can lead to death. Early treatment of sepsis improves chances for survival. Symptoms Symptoms of sepsis Symptoms of sepsis may include: Change in mental status. Fast, shallow breathing. Sweating for no clear reason. Feeling lightheaded. Shivering. Symptoms specific to the type of infection, such as painful urination from a urinary tract infection or worsening cough from pneumonia. Symptoms of sepsis are not specific. They can vary from person to person, and sepsis may appear differently in children than in adults. Symptoms of septic shock Sepsis may progress to septic shock. Septic shock is a severe drop in blood pressure. Progress...

 Pelizaeus-Merzbacher Disease Summary Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system that is associated with abnormalities of the white matter of the brain and spinal cord. It is one of the leukodystrophies in which disease is due to abnormal development of one or more components (predominantly fats or proteins) that make up the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves cannot function normally without it. In PMD, many areas of the central nervous system may be affected, including the deep portions of the cerebrum (subcortical), cerebellum, brain stem and spinal cord. Signs may include the impaired ability to coordinate movement (ataxia), involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs, delays in reaching developmental milestones, late onset loss of motor abilities, and progressive deterioration of intellectual fu...

 Scrub typhus Overview Typhoid fever, also called enteric fever, is caused by salmonella bacteria. Typhoid fever is rare in places where few people carry the bacteria. It also is rare where water is treated to kill germs and where human waste disposal is managed. One example of where typhoid fever is rare is the United States. Places with the highest number of cases or with regular outbreaks are in Africa and South Asia. It is a serious health threat, especially for children, in places where it is more common. Food and water with the bacteria in it cause typhoid fever. Close contact with a person who is carrying the salmonella bacteria also can cause typhoid fever. Symptoms include: *High fever. *Headache. *Stomach pain. *Constipation or diarrhea. Most people who have typhoid fever feel better about a week after they start treatment to kill bacteria, called antibiotics. But without treatment, there is a small chance of death from typhoid fever complications. Vaccines against typhoi...