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Mutations in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, fish, and dairy products. Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. The mutations that underlie CHILD syndrome eliminate the activity of the NSDHL enzyme, which disrupts the normal production of cholesterol within cells. A shortage of this enzyme may also allow potentially toxic byproducts of cholesterol production to build up in the body's tissues. Researchers suspect that low cholesterol levels and/or an accumulation of other substances disrupt the growth and development of many parts of the body. It is not known, however, how a disturbance in cholesterol production leads to the specific features of CHILD syndrome.
The prevalence of small fiber neuropathy is unknown.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research into narcolepsy and other sleep disorders in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. The NINDS continues to support investigations into the basic biology of sleep, including the brain mechanisms involved in generating and regulating sleep. Within the National Heart, Lung, and Blood Institute, also a component of the NIH, the National Center on Sleep Disorders Research (NCSDR) coordinates Federal government sleep research activities and shares information with private and nonprofit groups.
These resources address the diagnosis or management of Denys-Drash syndrome: - Gene Review: Gene Review: Wilms Tumor Overview - Genetic Testing Registry: Drash syndrome - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Ischemic stroke is the most common type. It is usually caused by a blood clot that blocks or plugs a blood vessel in the brain. This keeps blood from flowing to the brain. Within minutes, brain cells begin to die. Another cause is stenosis, or narrowing of the artery. This can happen because of atherosclerosis, a disease in which plaque builds up inside your arteries. Transient ischemic attacks (TIAs) occur when the blood supply to the brain is interrupted briefly. Having a TIA can mean you are at risk for having a more serious stroke. Symptoms of stroke are - Sudden numbness or weakness of the face, arm or leg (especially on one side of the body) - Sudden confusion, trouble speaking or understanding speech - Sudden trouble seeing in one or both eyes - Sudden trouble walking, dizziness, loss of balance or coordination - Sudden severe headache with no known cause It is important to treat strokes as quickly as possible. Blood thinners may be used to stop a stroke while it is happening by quickly dissolving the blood clot. Post-stroke rehabilitation can help people overcome disabilities caused by stroke damage. NIH: National Institute of Neurological Disorders and Stroke
Prinzmetal's variant angina is characterized by recurrent episodes of chest pain that occur while an individual is at rest. This condition is a form of unstable angina because the episodes do not occur in a predictable pattern. Prinzmetal's variant angina may occur spontaneously, or it may be caused by exposure to cold, emotional stress, alcohol withdrawal, or vasoconstricting medications. The symptoms of this condition usually respond to treatment. Individuals with Prinzmetals' variant angina may have a higher risk for heart attack or arrhythmia.
Signs of breast cancer include a lump or change in the breast. These and other signs may be caused by breast cancer or by other conditions. Check with your doctor if you have any of the following: - A lump or thickening in or near the breast or in the underarm area. - A change in the size or shape of the breast. - A dimple or puckering in the skin of the breast. - A nipple turned inward into the breast. - Fluid, other than breast milk, from the nipple, especially if it's bloody. - Scaly, red, or swollen skin on the breast, nipple, or areola (the dark area of skin around the nipple). - Dimples in the breast that look like the skin of an orange, called peau dorange.
Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys.3 The term autosomal dominant means a child can get the disorder by inheriting the gene mutation from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene. About 10 percent of autosomal dominant PKD cases occur spontaneously.4 The following chart shows the chance of inheriting an autosomal dominant gene mutation: Health care providers identify most cases of autosomal dominant PKD between the ages of 30 and 50.4 For this reason, health care providers often call autosomal dominant PKD adult PKD. However, the onset of kidney damage and how quickly the disorder progresses varies. In some cases, cysts may form earlier in life and grow quickly, causing symptoms in childhood. The cysts grow out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cystswhich can number in the thousandswhile roughly retaining their kidney shape. In fully developed autosomal dominant PKD, a cyst-filled kidney can weigh as much as 20 to 30 pounds.
NINDS supports research on brain and spinal cord disorders that can cause hypertonia. The goals of this research are to learn more about how the nervous system adapts after injury or disease and to find ways to prevent and treat these disorders.
Littoral cell angioma (LCA) is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, individuals with LCA have an enlarged spleen (splenomegaly), abdominal pain, fever, and portal hypertension (increased pressure in the vein that carries blood from the digestive organs to the liver). Though most reported cases of LCA have been benign, some reports have associated LCA with various other conditions including Crohn's disease, Gaucher disease, lymphoma, aplastic anemia, colon cancer, pancreatic cancer, lung cancer, and myelodysplastic syndrome. In rare cases, the LCA itself can become cancerous. The treatment of choice is usually removal of the spleen (splenectomy).
The NINDS supports and conducts a wide range of research on spinal cord disorders such as BSS. The goal of this research is to find ways to prevent, treat, and, ultimately, cure these disorders.
The complete form of inherited thyroxine-binding globulin deficiency, TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, affects about 1 in 4,000 newborns. These conditions appear to be more common in the Australian Aborigine population and in the Bedouin population of southern Israel.
Optic atrophy type 1 is a condition that affects vision. Individuals with this condition have progressive vision loss that typically begins within the first decade of life. The severity of the vision loss varies widely among affected people, even among members of the same family. People with this condition can range from having nearly normal vision to complete blindness. The vision loss usually progresses slowly. People with optic atrophy type 1 frequently have problems with color vision that make it difficult or impossible to distinguish between shades of blue and green. Other vision problems associated with this condition include a progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the nerve that relays visual information from the eye to the brain (optic nerve). Optic nerve pallor can be detected during an eye examination.
Pemphigus is an autoimmune disorder. If you have it, your immune system attacks healthy cells in your skin and mouth, causing blisters and sores. No one knows the cause. Pemphigus does not spread from person to person. It does not appear to be inherited. But some people's genes put them more at risk for pemphigus. Pemphigoid is also an autoimmune skin disease. It leads to deep blisters that do not break easily. Pemphigoid is most common in older adults and may be fatal for older, sick patients. Doctors diagnose pemphigus with a physical exam, a biopsy, and blood tests. The treatment of pemphigus and pemphigoid is the same: one or more medicines to control symptoms. These may include - Steroids, which reduce inflammation - Drugs that suppress the immune system response - Antibiotics to treat associated infections NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Erythema - Erythema nodosum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Osteoarthritis often results from years of wear and tear on joints. This wear and tear mostly affects the cartilage, the tissue that cushions the ends of bones within the joint. Osteoarthritis occurs when the cartilage begins to fray, wear away, and decay. Putting too much stress on a joint that has been repeatedly injured may lead to the development of osteoarthritis, too. A person who is overweight is more likely to develop osteoarthritis because of too much stress on the joints. Also, improper joint alignment may lead to the development of osteoarthritis.
Chiari malformation type 2 (CM type II) is a type of Chiari malformation in which both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). This form is often accompanied by a type of spina bifida called myelomeningocele, and can also be accompanied by syringomyelia, hydrocephalus, or other abnormalities. Symptoms in infants may include stridor (wheezing sound); difficulty swallowing (dysphagia); feeding difficulties; hypotonia; and weak cry. Symptoms in children and/or adults may include headache; fatigue; loss of vision; tingling extremities; nausea; dysphagia; dizziness; muscle weakness; and ataxia. Adults and adolescents who previously had no symptoms may begin to have symptoms later in life. The exact cause of the condition is not known but it appears to be due to a developmental failure of the brain stem and upper spine. The term Arnold-Chiari malformation is technically specific to type II but may sometimes be used to describe other types of Chiari malformations.
Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys. In complete LCAT deficiency, the clear front surface of the eyes (the corneas) gradually becomes cloudy. The cloudiness, which generally first appears in early childhood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead to severely impaired vision. People with complete LCAT deficiency often have kidney disease that begins in adolescence or early adulthood. The kidney problems get worse over time and may eventually lead to kidney failure. Individuals with this disorder also usually have a condition known as hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Anemia can cause pale skin, weakness, fatigue, and more serious complications. Other features of complete LCAT deficiency that occur in some affected individuals include enlargement of the liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty deposits on the artery walls (atherosclerosis).
Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. The features of this progressive disorder may change over time. Individuals who survive beyond infancy often develop the symptoms of Kearns-Sayre syndrome or Leigh syndrome. Pearson syndrome is caused by deletions in mitochondrial DNA. Inheritance is usually sporadic.
The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 individuals.
Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals. Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface. The condition is thought to be caused by irritation, but the cause is not always known. Tobacco is considered to be the main cause of its development in the mouth. Most patches are benign, but a small percentage show early signs of cancer. Removing the source of irritation may cause the condition to go away, but surgery to remove the sore(s) may be necessary in some cases.
How might hereditary leiomyomatosis and renal cell cancer be treated? Skin growths (cutaneous leiomyomas) associated with hereditary leiomyomatosis and renal cell cancer (HLRCC) should be examined by a dermatologist. Treatment of these may include surgery to remove a painful growth; cryoablation and/or lasers; and/or medications such as calcium channel blockers, alpha blockers, nitroglycerin, antidepressants, and/or antiepileptic drugs (AEDs), which have been reported to reduce pain. Uterine fibroids should be evaluated by a gynecologist. These are typically treated in the same manner as those that occur in the general population. However, most women with HLRCC need medication and/or surgical removal of the fibroids (myomectomy) at a younger age. Medications may include gonadotropin-releasing hormone agonists (GnRHa), antihormonal drugs, and pain relievers. Hysterectomy should be performed only when necessary. Early detection of kidney tumors in HLRCC is important because they grow aggressively. Total nephrectomy may be strongly considered in individuals with a detectable renal mass.
How is osteogenesis imperfecta inherited? Osteogenesis imperfecta (OI) is most commonly inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of OI. The mutated copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected person (a de novo mutation). When a person with an autosomal dominant form of OI has children, each child has a 50% (1 in 2) chance of inheriting the mutated gene. If the child inherits the mutated gene, the child's symptoms may be milder, or more severe, than those of the parent. Less commonly, OI is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with an autosomal recessive condition typically are unaffected, but each carry one mutated copy of the gene. When two carriers of an autosomal recessive form of OI have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
Following a healthy lifestyle and taking steps to lower your risk for heart disease may help you prevent atrial fibrillation (AF). These steps include: Following a heart healthy diet that's low in saturated fat, trans fat, and cholesterol. A healthy diet includes a variety of whole grains, fruits, and vegetables daily. Not smoking. Being physically active. Maintaining a healthy weight. If you already have heart disease or other AF risk factors, work with your doctor to manage your condition. In addition to adopting the healthy habits above, which can help control heart disease, your doctor may advise you to: Follow the DASH eating plan to help lower your blood pressure. Keep your cholesterol and triglycerides at healthy levels with dietary changes and medicines (if prescribed). Limit or avoid alcohol. Control your blood sugar level if you have diabetes. Get ongoing medical care and take your medicines as prescribed. For more information about following a healthy lifestyle, visit the National Heart, Lung, and Blood Institute's Aim for a Healthy Weight Web site, "Your Guide to a Healthy Heart," "Your Guide to Lowering Your Blood Pressure With DASH," and "Your Guide to Physical Activity and Your Heart."
Mutations in the GBE1 gene cause GSD IV. The GBE1 gene provides instructions for making the glycogen branching enzyme. This enzyme is involved in the production of glycogen, which is a major source of stored energy in the body. GBE1 gene mutations that cause GSD IV lead to a shortage (deficiency) of the glycogen branching enzyme. As a result, glycogen is not formed properly. Abnormal glycogen molecules called polyglucosan bodies accumulate in cells, leading to damage and cell death. Polyglucosan bodies accumulate in cells throughout the body, but liver cells and muscle cells are most severely affected in GSD IV. Glycogen accumulation in the liver leads to hepatomegaly and interferes with liver functioning. The inability of muscle cells to break down glycogen for energy leads to muscle weakness and wasting. Generally, the severity of the disorder is linked to the amount of functional glycogen branching enzyme that is produced. Individuals with the fatal perinatal neuromuscular type tend to produce less than 5 percent of usable enzyme, while those with the childhood neuromuscular type may have around 20 percent of enzyme function. The other types of GSD IV are usually associated with between 5 and 20 percent of working enzyme. These estimates, however, vary among the different types.
Plasminogen activator inhibitor type 1 (PAI-1) deficiency a rare disorder that causes premature breakdown of blood clots and a moderate bleeding syndrome. While spontaneous bleeding is rare, moderate hemorrhages of the knees, elbows, nose and gums may be triggered by mild trauma. In females, menstrual bleeding is often severe. Prolonged bleeding after surgery is also common. PAI-1 deficiency is caused by homozygous or compound heterozygous mutation in the SERPINE1 gene. Fibrinolysis inhibitors, including epsilon-aminocaproic acid and tranexamic acid, are usually effective in treating and preventing bleeding episodes.
Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. The missing genetic material affects development before and after birth. About half of individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. Women with Turner syndrome caused by X chromosome mosaicism are said to have mosaic Turner syndrome. Researchers have not determined which genes on the X chromosome are associated with most of the features of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome.
Signs of adult Hodgkin lymphoma include swollen lymph nodes, fever, night sweats, and weight loss. These and other signs and symptoms may be caused by adult Hodgkin lymphoma or by other conditions. Check with your doctor if any of the following do not go away: - Painless, swollen lymph nodes in the neck, underarm, or groin. - Fever for no known reason. - Drenching night sweats. - Weight loss for no known reason. - Itchy skin. - Feeling very tired.
Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage. A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait. The most common symptoms are pain and problems from anemia. Anemia can make you feel tired or weak. In addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet. A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs. Sickle cell anemia has no widely available cure. Treatments can help relieve symptoms and lessen complications. Researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines. NIH: National Heart, Lung, and Blood Institute
Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.
How might giant congenital nevus be treated? Treatment for giant congenital nevus depends on the age of the affected individual as well as the size, location, and thickness of the nevus. Surgery may be done to remove the nevus, particularly when there is a concern that it may develop into a melanoma. When small nevi are removed, the surrounding skin can often be pulled together with stitches. Larger nevi may need to be removed in several stages and full-thickness skin grafts may be needed to help the skin heal following surgery. Laser treatments may be used for superficial skin imperfections, including reducing pigment and hair, but cannot completely remove the nevus. Affected individuals should self-monitor and continue to have regular skin examinations to check for benign or malignant tumors. Early awareness will allow their physicians to adjust treatment protocols accordingly. Children are most likely to show neurological signs before primary school and can respond well to a range of symptomatic therapies.
How are basilar migraines treated? During episodes of basilar migraines, people are generally treated with nonsteroidal anti-inflammatory drugs (NSAIDs) and antiemetic medications to help alleviate the symptoms. In some cases, a nerve block can be used to treat pain if other therapies are ineffective. In people with episodes of basilar migraines that are frequent, prolonged, or particularly debilitating, certain medications such as verapamil or topiramate may be prescribed as a preventative therapy.
Hypersomnia is characterized by recurrent episodes of excessive daytime sleepiness or prolonged nighttime sleep. Different from feeling tired due to lack of or interrupted sleep at night, persons with hypersomnia are compelled to nap repeatedly during the day, often at inappropriate times such as at work, during a meal, or in conversation. These daytime naps usually provide no relief from symptoms. Patients often have difficulty waking from a long sleep, and may feel disoriented. Other symptoms may include anxiety, increased irritation, decreased energy, restlessness, slow thinking, slow speech, loss of appetite, hallucinations, and memory difficulty. Some patients lose the ability to function in family, social, occupational, or other settings. Hypersomnia may be caused by another sleep disorder (such as narcolepsy or sleep apnea), dysfunction of the autonomic nervous system, or drug or alcohol abuse. In some cases it results from a physical problem, such as a tumor, head trauma, or injury to the central nervous system. Certain medications, or medicine withdrawal, may also cause hypersomnia. Medical conditions including multiple sclerosis, depression, encephalitis, epilepsy, or obesity may contribute to the disorder. Some people appear to have a genetic predisposition to hypersomnia; in others, there is no known cause. Typically, hypersomnia is first recognized in adolescence or young adulthood.
These quit smoking websites offer you free, accurate information and professional assistance to help support the immediate and long-term needs of people trying to quit smoking. The National Cancer Institute sponsors - Smokefree 60+.gov, a quit-smoking website for older adults - Smokefree.gov - SmokefreeWomen - SmokefreeEspanol - SmokefreeVET Smokefree 60+.gov, a quit-smoking website for older adults Smokefree.gov SmokefreeWomen SmokefreeEspanol SmokefreeVET Other online resources are - Be Tobacco Free , a website from the U.S. Department of Health and Human Services - A Quit Guide from the Centers from Disease Control and Prevention (CDC). Be Tobacco Free , a website from the U.S. Department of Health and Human Services A Quit Guide from the Centers from Disease Control and Prevention (CDC). Most states also have quit-smoking websites that have resources, such as free supplies of nicotine replacement therapy, informational mailings, and more. Mobile tools can also help, especially when you're on the go. These include text messaging services and free apps. - See SmokefreeTXT, a text messaging service - See QuitSTART and QuitGuide, free quit smoking apps See SmokefreeTXT, a text messaging service See QuitSTART and QuitGuide, free quit smoking apps
1q21.1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms. In at least half of cases, individuals with a 1q21.1 microdeletion inherit the chromosomal change from a parent. In general, parents who carry a 1q21.1 microdeletion have milder signs and symptoms than their children who inherit the deletion, even though the deletion is the same size. About one-quarter of these parents have no associated features. A 1q21.1 microdeletion can also occur in people whose parents do not carry the chromosomal change. In this situation, the deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) in a parent or in early embryonic development.
How might hereditary cerebral hemorrhage with amyloidosis - Dutch type be treated? There is no known effective treatment for hereditary cerebral hemorrhage with amyloidosis - Dutch type. Treatment is supportive and based on the control of symptoms. In some cases, rehabilitation is needed for weakness or clumsiness. This can include physical, occupational, or speech therapy. Occasionally, some patients are good candidates for medications that can help improve memory. The management of intracranial hemorrhage (ICH) related to hereditary cerebral hemorrhage with amyloidosis - Dutch type is identical to the standard management of ICH. The main objectives include reversing anticoagulation, managing intracranial pressure, and preventing complications.
The signs and symptoms of childhood nephrotic syndrome may include - edemaswelling, most often in the legs, feet, or ankles and less often in the hands or face - albuminuriawhen a childs urine has high levels of albumin - hypoalbuminemiawhen a childs blood has low levels of albumin - hyperlipidemiawhen a childs blood cholesterol and fat levels are higher than normal In addition, some children with nephrotic syndrome may have - blood in their urine - symptoms of infection, such as fever, lethargy, irritability, or abdominal pain - loss of appetite - diarrhea - high blood pressure
How might multiple myeloma be treated? The treatment of multiple myeloma varies based on many factors including the age and general health of the affected person; the associated signs and symptoms; and the severity of the condition. In general, one or more of the following interventions may be used to treat multiple myeloma: Chemotherapy Corticosteroid medications Targeted therapy Stem cell transplant Biological therapy Radiation therapy Surgery Watchful waiting The National Cancer Institute offers information regarding the management of multiple myeloma, including more specific information regarding the treatments outlined above. Please click on the link to access this resource.
The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on either side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce and store hormones and release them into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells. The thyroid makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is the active hormone and is made from T4. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels. Thyroid-stimulating hormone (TSH), which is made by the pituitary gland in the brain, regulates thyroid hormone production. When thyroid hormone levels in the blood are low, the pituitary releases more TSH. When thyroid hormone levels are high, the pituitary decreases TSH production.
These resources address the diagnosis or management of distal hereditary motor neuropathy, type V: - Gene Review: Gene Review: BSCL2-Related Neurologic Disorders/Seipinopathy - Gene Review: Gene Review: GARS-Associated Axonal Neuropathy - Genetic Testing Registry: Distal hereditary motor neuronopathy type 5 - Genetic Testing Registry: Distal hereditary motor neuronopathy type 5B - MedlinePlus Encyclopedia: High-Arched Foot These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs. These disorders cause progressive weakness and can lead to death.
Is Poland syndrome inherited? Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherited susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly (i.e., make a person more likely to develop the anomaly).
The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - prevent the effects of aging on taste and smell - develop new diagnostic tests - understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses - improve treatment methods and rehabilitation strategies. prevent the effects of aging on taste and smell develop new diagnostic tests understand associations between taste disorders and changes in diet and food preferences in the elderly or among people with chronic illnesses improve treatment methods and rehabilitation strategies.
The standard treatment for Whipple's disease is a prolonged course of antibiotics (up to two years), including penicillin and cefriaxone or doxycycline with hydroxychloroquine. Sulfa drugs (sulfonamides) such as sulfadizine or solfamethoxazole can treat neurological symptoms. Relapsing neurologic Whipple's disease. (marked by bouts of worsening of symptoms) is sometimes treated with a combination of antibiotics and weekly injections of interfron gamma, a substance made by the body that activates the immune system.
DMD-associated dilated cardiomyopathy results from mutations in the DMD gene. This gene provides instructions for making a protein called dystrophin, which helps stabilize and protect muscle fibers and may play a role in chemical signaling within cells. The mutations responsible for DMD-associated dilated cardiomyopathy preferentially affect the activity of dystrophin in cardiac muscle cells. As a result of these mutations, affected individuals typically have little or no functional dystrophin in the heart. Without enough of this protein, cardiac muscle cells become damaged as the heart muscle repeatedly contracts and relaxes. The damaged muscle cells weaken and die over time, leading to the heart problems characteristic of DMD-associated dilated cardiomyopathy. The mutations that cause DMD-associated dilated cardiomyopathy often lead to reduced amounts of dystrophin in skeletal muscle cells. However, enough of this protein is present to prevent weakness and wasting of the skeletal muscles. Because DMD-associated dilated cardiomyopathy results from a shortage of dystrophin, it is classified as a dystrophinopathy.
What are the signs and symptoms of Early infantile epileptic encephalopathy 25? The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 25. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epileptic encephalopathy - Muscular hypotonia of the trunk - Status epilepticus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
How is Lemierre syndrome diagnosed? After performing blood cultures and complete blood counts, contrast computed tomography (CT) of the neck provides the definitive diagnosis. Ultrasound can also confirm internal jugular vein thrombosis.
The main cause of respiratory distress syndrome (RDS) is a lack of surfactant in the lungs. Surfactant is a liquid that coats the inside of the lungs. A fetus's lungs start making surfactant during the third trimester of pregnancy (weeks 26 through labor and delivery). The substance coats the insides of the air sacs in the lungs. This helps keep the lungs open so breathing can occur after birth. Without enough surfactant, the lungs will likely collapse when the infant exhales (breathes out). The infant then has to work harder to breathe. He or she might not be able to get enough oxygen to support the body's organs. Some full-term infants develop RDS because they have faulty genes that affect how their bodies make surfactant.
Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have - Smaller testes and penis - Breast growth - Less facial and body hair - Reduced muscle tone - Narrower shoulders and wider hips - Weaker bones - Decreased sexual interest - Lower energy KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in. A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives. Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help. NIH: National Institute of Child Health and Human Development
Summary : Your liver helps your body digest food, store energy, and remove poisons. Liver function tests are blood tests that check to see how well your liver is working. They check for liver damage, and can help diagnose liver diseases such as hepatitis and cirrhosis. You may have liver function tests as part of a regular checkup. Or you may have them if you have symptoms of liver disease. Doctors also use the tests to monitor some liver diseases, treatments, and possible side effects of medicines. Liver function tests measure certain proteins, enzymes, and substances, including: - Albumin, a protein that the liver makes - Total protein (TP) - Enzymes that are found in the liver, including alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), and gamma-glutamyl transpeptidase (GGT) - Bilirubin, a yellow substance that is part of bile. It is formed when your red blood cells break down. Too much bilirubin in the blood can cause jaundice. There is also a urine test for bilirubin. - Prothrombin time, which measures how long it takes for your blood to clot. Prothrombin is made by the liver.
These resources address the diagnosis or management of fibrodysplasia ossificans progressiva: - Genetic Testing Registry: Progressive myositis ossificans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. The extent of surgery, or the amount of tumor that may be removed, depends on the location of the tumor and how close it is to critical structures in the brain. Surgery is followed by radiation therapy to destroy any cancer cells that may remain after surgery. Several studies have suggested that proton beam radiation or combined proton/photon radiation may be more effect than conventional photon radiation therapy for treating chordomas of the skull base because proton radiation may allow for a greater dose of radiation to be delivered to the tumor without damaging the surrounding normal tissues. Approximately 60-70% of individuals treated with combined surgery and radiation therapy remained tumor-free for at least five years.
A CDKL5-related disorder is a genetic, neuro-developmental condition due to changes (mutations) in the CDKL5 gene. Epileptic encephalopathy (epilepsy accompanied by cognitive and behavioral problems) is the core symptom of a CDKL5-related disorder. Seizures typically begin before 5 months of age. Affected people often have severe intellectual disability with absent speech, and features that resemble Rett syndrome such as hand stereotypies (repetitive movements) and slowed head growth. CDKL5-related disorders have more commonly been reported in females. The inheritance pattern is X-linked dominant. Almost all reported cases have been due to a new mutation in the affected person; one family with 3 affected members has been described. Treatment is symptomatic. In the past, mutations in the CDKL5 gene have been found in people diagnosed with infantile spasms and/or West syndrome; Lennox-Gastaut syndrome; Rett syndrome; a form of atypical Rett syndrome known as the early-onset seizure type; and autism. However, it has more recently been suggested that CDKL5 mutations cause a separate, specific disorder with features that may overlap with these conditions.
Osteonecrosis is a disease caused by reduced blood flow to bones in the joints. In people with healthy bones, new bone is always replacing old bone. In osteonecrosis, the lack of blood causes the bone to break down faster than the body can make enough new bone. The bone starts to die and may break down. You can have osteonecrosis in one or several bones. It is most common in the upper leg. Other common sites are your upper arm and your knees, shoulders and ankles. The disease can affect men and women of any age, but it usually strikes in your thirties, forties or fifties. At first, you might not have any symptoms. As the disease gets worse, you will probably have joint pain that becomes more severe. You may not be able to bend or move the affected joint very well. No one is sure what causes the disease. Risk factors include - Long-term steroid treatment - Alcohol abuse - Joint injuries - Having certain diseases, including arthritis and cancer Doctors use imaging tests and other tests to diagnose osteonecrosis. Treatments include medicines, using crutches, limiting activities that put weight on the affected joints, electrical stimulation and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
What causes afibrinogenemia? Afibrinogenemia is caused by a severe lack of fibrinogen (coagulation factor I), a protein in the blood that is essential in the blood clotting (coagulation) process. This defect in fibrinogen synthesis can result from mutations in one or another of the fibrinogen genes alpha (FGA), beta (FGB) or gamma (FGG).
These resources address the diagnosis or management of aromatase excess syndrome: - Genetic Testing Registry: Familial gynecomastia, due to increased aromatase activity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin. Most of the mutations that cause hereditary antithrombin deficiency change single protein building blocks (amino acids) in antithrombin, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional antithrombin to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots.
Parkinson's disease is a brain disorder that leads to shaking, stiffness, and difficulty with walking, balance, and coordination. It currently affects about half a million people in the United States, although the numbers may be much higher. Parkinson's disease is both chronic, meaning it lasts for a long time, and progressive, meaning its symptoms grow worse over time. It is not contagious.
These resources address the diagnosis or management of glutamate formiminotransferase deficiency: - Baby's First Test - Genetic Testing Registry: Glutamate formiminotransferase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Hematuria is treated by treating its underlying cause. If no serious condition is causing hematuria, no treatment is needed. Hematuria caused by a UTI is treated with antibiotics; urinalysis should be repeated 6 weeks after antibiotic treatment ends to be sure the infection has resolved.
These resources address the diagnosis or management of 15q13.3 microdeletion: - Gene Review: Gene Review: 15q13.3 Microdeletion - Genetic Testing Registry: 15q13.3 microdeletion syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of pseudohypoaldosteronism type 1: - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal dominant - Genetic Testing Registry: Pseudohypoaldosteronism type 1 autosomal recessive - MedlinePlus Encyclopedia: Hyponatremia - University of Maryland Medical Center: Hyperkalemia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How is Holt-Oram syndrome diagnosed? The diagnosis of Holt-Oram syndrome can be established based on physical features and family history. It can be confirmed through genetic testing looking for mutations in the TBX5 gene. Hand x-rays are usually performed for upper-limb malformations. A family history of this condition and/or cogenital heart malformations is also used as a diagnostic tool as a congenital heart malformation is present in 75% of individuals with Holt-Oram syndrome. An echocardiogram and electrocardiogram can be used to determine the presence and severity of heart defects and/or cardiac conduction disease. Holt-Oram syndrome can be excluded in individuals with congenital malformations involving the following structures or organ systems: ulnar ray only, kidney, vertebra, head and face region, auditory system (hearing loss or ear malformations), lower limb, anus, or eye.
These resources address the diagnosis or management of van der Woude syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Van der Woude syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life. Some children with microcephaly have normal intelligence and development. However, microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy. Although there is no treatment for microcephaly, early intervention may help enhance development and improve quality of life.
What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gastroschisis 90% Abnormality of the mesentery 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Most individuals with myotonia congenita lead long, productive lives. Although muscle stiffness may interfere with walking, grasping, chewing, and swallowing, it is usually relieved with exercise.
These resources address the diagnosis or management of McLeod neuroacanthocytosis syndrome: - Gene Review: Gene Review: McLeod Neuroacanthocytosis Syndrome - Genetic Testing Registry: McLeod neuroacanthocytosis syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of GACI: - Gene Review: Gene Review: Generalized Arterial Calcification of Infancy - Genetic Testing Registry: Generalized arterial calcification of infancy 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How might Ehlers-Danlos syndrome, kyphoscoliosis type be treated? The treatment of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces may be necessary depending on the severity of joint instability. Depending on the severity of the kyphoscoliosis (kyphosis and scoliosis), surgery may be necessary. Because EDS, kyphoscoliosis type is associated with fragile skin with abnormal wound healing, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead. Regular follow-up may be recommended to check for development or progression of abnormalities of the eyes, cardiovascular system, and other parts of the body. GeneReview's Web site offers more specific information regarding the treatment and management of EDS, kyphoscoliosis type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Can dislocated lenses in patients with Axenfeld-Rieger syndrome be treated? We were unable to find information in the medical literature regarding the management of dislocated lenses in patients with Axenfeld-Rieger syndrome. We encourage you to speak with a healthcare provider experienced in the management of rare eye disorders. The American Association of Eye and Ear Centers of Excellence provides a list of member clinics and the Eye Research Network provides a list of eye research facilities that may be helpful as you search for clinics. Click on the links to view the lists. Please note that the lists are not exhaustive of all specialty and research eye clinics within the United States or abroad.
What are the signs and symptoms of situs inversus? In isolated situs inversus (occurring alone with no other abnormalities), there is a complete mirror image transposition of the thoracic (chest) and abdominal organs, and anterior-posterior (front-back) symmetry is normal. Many affected people have no associated health issues when the condition is isolated. When situs inversus occurs in association with other conditions such as Kartagener syndrome or primary ciliary dyskinesia, additional signs and symptoms relating to these conditions will be present.
What causes hemangiopericytoma? The cause of the disease is unknown, and no strong clinical data exist to indicate a convincing link to specific causes. Some reports suggest a relationship between hemangiopericytoma and occupational vinyl chloride exposure, as well as exposure to herbicides.
Fibronectin glomerulopathy is likely a rare condition, although its prevalence is unknown. At least 45 cases have been described in the scientific literature.
- Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. - If RTA is suspected, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. - In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.
These resources address the diagnosis or management of PRICKLE1-related progressive myoclonus epilepsy with ataxia: - Gene Review: Gene Review: PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia - Genetic Testing Registry: Progressive myoclonus epilepsy with ataxia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar or not. Agnosia can be limited to one sensory modality such as vision or hearing. For example, a person may have difficulty in recognizing an object as a cup or identifying a sound as a cough. Agnosia can result from strokes, dementia, developmental disorders, or other neurological conditions. It typically results from damage to specific brain areas in the occipital or parietal lobes of the brain. People with agnosia may retain their cognitive abilities in other areas.
A person with hemochromatosis may notice one or more of the following symptoms: - joint pain - fatigue, or feeling tired - unexplained weight loss - abnormal bronze or gray skin color - abdominal pain - loss of sex drive Not everyone with hemochromatosis will develop these symptoms.
If you have advanced chronic kidney disease (CKD), you may soon need treatment to do the work your kidneys can no longer do. Learning about your treatment options for kidney failure will help you make the best choice for you. Each treatment has pros and cons. Your choice of treatment will have a big effect on your daily life, such as continuing to work if you do so currently. Talking with your doctor ahead of time about your options can help you take control of your care. Understanding the treatment you choose and getting used to the idea that you need to have this treatment takes time. If you find your choice of treatment does not fit your lifestyle, talk with your doctor about picking another treatment that fits your needs better.
Neonatal progeroid syndrome is a rare genetic syndrome characterized by an aged appearance at birth. Other signs and symptoms include intrauterine growth restriction, feeding difficulties, distinctive craniofacial features, hypotonia, developmental delay and mild to severe intellectual disability. In most cases, affected infants pass away before age 7 months, but rare reports exist of survival into the teens or early 20s. Although the exact underlying cause of neonatal progeroid syndrome is unknown, it is likely a genetic condition that is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive.
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver.
These resources address the diagnosis or management of Cornelia de Lange syndrome: - Gene Review: Gene Review: Cornelia de Lange Syndrome - Genetic Testing Registry: De Lange syndrome - MedlinePlus Encyclopedia: Autism - MedlinePlus Encyclopedia: Microcephaly These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Langerhans cell histiocytosis is a rare disorder. Its prevalence is estimated at 1 to 2 in 100,000 people.
The prognosis for Canavan disease is poor. Death usually occurs before age 10, although some children may survive into their teens and twenties.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Anti-epileptic drugs are usually not effective in controlling seizures. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. Surgery to control seizures may be performed in later stages of the disease when neurological deficits stabilize. Surgical procedures, such as functional hemispherectomy and hemispherotomy, may reduce the frequency of seizures and also improve behavior and cognitive abilities.
There is no definitive cure for essential tremor. Symptomatic drug therapy may include propranolol or other beta blockers and primidone, an anticonvulsant drug. Eliminating tremor "triggers" such as caffeine and other stimulants from the diet is often recommended. Physical and occupational therapy may help to reduce tremor and improve coordination and muscle control for some individuals. Deep brain stimulation uses a surgically implanted, battery-operated medical device called a neurostimulator to delivery electrical stimulation to targeted areas of the brain that control movement, temporarily blocking the nerve signals that cause tremor. Other surgical intervention is effective but may have side effects.
What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.
This condition appears to be rare; it has been reported in only a few individuals and families worldwide.
Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people.
How is bronchiolitis obliterans organizing pneumonia (BOOP) diagnosed? BOOP is typically diagnosed by lung biopsy, although imaging tests and pulmonary function tests can also provide information for diagnosis.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of affected individuals have been described in the medical literature.
Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked. Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision. NIH: National Eye Institute
Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly. In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis.
The symptoms for diverticulosis and diverticulitis are different. Diverticulosis. Many people don't have symptoms, but some people have cramping, bloating, and constipation. Some people also have bleeding, inflammation, and fistulas. If you are bleeding, bright red blood will pass through your rectum. The rectum is the end of the colon that connects to the anus. The rectum and anus are part of the gastrointestinal tract, which is the passage that food goes through. Rectal bleeding is usually painless, but it can be dangerous. You should see a doctor right away. Diverticulitis. People with diverticulitis can have many symptoms. Often pain is felt in the lower part of the abdomen. If you have diverticulitis, you may have fevers, feel sick to your stomach, vomit, or have a change in your bowel habits.
These resources address the diagnosis or management of oculofaciocardiodental syndrome: - Genetic Testing Registry: Oculofaciocardiodental syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B, and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. If the liver forms scar tissue because of an illness, it's called cirrhosis. Jaundice, or yellowing of the skin, can be one sign of liver disease. Cancer can affect the liver. You could also inherit a liver disease such as hemochromatosis. Tests such as imaging tests and liver function tests can check for liver damage and help to diagnose liver diseases.
If too much scar tissue forms, your liver could fail. Then you will need a liver transplant. A liver transplant can return you to good health. For information about liver transplantation, see the booklet What I need to know about Liver Transplantation from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).