Health and Fitness

 Mobius Syndrome Summary Moebius syndrome is a rare neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. Other cranial nerves are sometimes affected. The disorder is present at birth (congenital). If the 7th nerve is involved, the individual with Moebius syndrome is unable to smile, frown, pucker the lips, raise the eyebrows, or close the eyelids. If the 6th nerve is affected, the eye cannot turn outward past the midline. Other abnormalities include underdevelopment of the pectoral muscles and defects of the limbs. Moebius syndrome is not progressive. The exact cause is unknown. It appears to occur randomly (sporadically) in most cases; however, some cases occur in families suggesting that there may be a genetic component. Introduction Congenital facial and abducens palsy was first described by Von Graefe (1880) and Moebius (1888), a German neurologist after whom the syndrome was late...

 Lesch-Nyhan Disease OVERVIEW Lesch-Nyhan syndrome (LNS) is a rare congenital (at birth) disorder that affects a child's brain and behavior. A key symptom is engaging in uncontrollable self-injury, including lip and finger biting or head banging. The disease causes a buildup of a natural waste product called uric acid in the body. Researchers suspect LNS may also affect dopamine levels. Dopamine is a chemical messenger important for healthy brain function. Children with LNS experience a severe, painful form of arthritis called gout. They also have poor muscle control (dystonia) and mental disability. There is no cure for Lesch-Nyhan syndrome, and the prognosis is poor. But treatment options can help you manage your child's symptoms and reduce complications for an improved quality of life. Signs & Symptoms The symptoms of Lesch-Nyhan syndrome may become apparent as early as six months of age. Earlier urate crystal formation, resulting from abnormally increased levels of uric...

 Limb-Girdle Muscular Dystrophy Disease Overview Limb-girdle muscular dystrophies (LGMD) are a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body. Many different subtypes have been identified based upon abnormal changes (mutations) of certain genes. The age at onset, severity, and progression of symptoms of these subtypes may vary greatly from case to case, even among individuals in the same family. Some individuals may have a mild, slowly progressive form of the disorders; other may have a rapidly progressive form of the disorder that causes severe disability. The term limb-girdle muscular dystrophies is a general term that encompasses several disorders. These disorders can now be distinguished by genetic and protein analysis. The various forms of LGMD may be inher...

  Fibromuscular Dysplasia Overview Fibromuscular dysplasia is a condition that causes narrowing (stenosis) and enlargement (aneurysm) of the medium-sized arteries in your body. Narrowed arteries can reduce blood flow and affect the function of your organs. Fibromuscular dysplasia appears most commonly in the arteries leading to the kidneys and brain. Fibromuscular dysplasia can affect other arteries, including those leading to your legs, heart, abdomen and, rarely, the arms. It's possible to have more than one affected artery. Treatments are available, but there isn't a cure for fibromuscular dysplasia. Symptoms Many people who have fibromuscular dysplasia don't have any symptoms. For those who do, signs or symptoms of the disease depend on which artery or arteries are affected. If the arteries to the kidneys are affected, common signs and symptoms include: *High blood pressure *Poor kidney function If the arteries affected supply blood to the brain, signs and symptoms migh...

 Anorexia Overview Anorexia (an-o-REK-see-uh) nervosa — often simply called anorexia — is an eating disorder characterized by an abnormally low body weight, an intense fear of gaining weight and a distorted perception of weight. People with anorexia place a high value on controlling their weight and shape, using extreme efforts that tend to significantly interfere with their lives. To prevent weight gain or to continue losing weight, people with anorexia usually severely restrict the amount of food they eat. They may control calorie intake by vomiting after eating or by misusing laxatives, diet aids, diuretics or enemas. They may also try to lose weight by exercising excessively. No matter how much weight is lost, the person continues to fear weight gain. Anorexia isn't really about food. It's an extremely unhealthy and sometimes life-threatening way to try to cope with emotional problems. When you have anorexia, you often equate thinness with self-worth. Anorexia, like other e...

 Emery-Dreifuss Muscular Dystrophy Summary Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy). Major symptoms may include muscle wasting and weakness particularly in arms and lower legs (humeroperoneal regions) and contractures of the elbows, Achilles tendons, and upper back muscles. In some cases, additional abnormalities may be present. In most cases, EDMD is inherited as an X-linked or autosomal dominant disease. In extremely rare cases, autosomal recessive inheritance has been reported. Although EDMD has different modes of inheritance, the symptoms are nearly the same. Introduction EDMD belongs to a group of rare genetic muscle disorders know...