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Treatment is generally symptomatic and includes massage and rest. In some cases, antidepressants may be used when the pain is particularly severe. Other treatments may include local nerve blocks and injections of steroids directly into the affected area.
Paragonimus infections are treatable by your health care provider. Prescription medications are available. More on: Resources for Health Professionals: Treatment
This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. No cases of Snyder-Robinson syndrome in females have been reported.
How is EEC syndrome inherited? EEC syndrome is inherited in an autosomal dominant manner.This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. EEC can appear to be caused by a de novo mutation in some instances when an unaffected parent of an affected child has germline mosaicism. Germline mosaicism affects the genetic make-up of the egg and sperm cell only. It is estimated that unaffected parents of a child with EEC syndrome have a 4% risk of having another affected child. EEC syndrome additionally shows reduced penetrance and variable expressivity. Reduced penetrance means that not all individuals with a mutation in the disease-causing gene will have signs and symptoms of the condition; however, in this condition, it has been reported that up to 93-98% of individuals with a mutation will have the condition. Variable expressivity means that there is a range of signs and symptoms that can occur in different people with the condition (i.e. the expression of the condition varies).
Before leaving the hospital, a baby with urine blockage may urinate only small amounts or may not urinate at all. As part of the routine newborn exam, the health care provider may feel an enlarged kidney or find a closed urethra, which may indicate urine blockage. Sometimes urine blockage is not apparent until a child develops symptoms of a urinary tract infection (UTI), including - fever - irritability - not eating - nausea - diarrhea - vomiting - cloudy, dark, bloody, or foul-smelling urine - urinating often If these symptoms persist, the child should see a health care provider. A child 2 months of age or younger with a fever should see a health care provider immediately. The health care provider will ask for a urine sample to test for bacteria.
Older age and being male increase the risk of chronic myelomonocytic leukemia. Anything that increases your chance of getting a disease is called a risk factor. Possible risk factors for CMML include the following: - Older age. - Being male. - Being exposed to certain substances at work or in the environment. - Being exposed to radiation. - Past treatment with certain anticancer drugs.
The loss of different proteins from the body can lead to a variety of complications in people with nephrotic syndrome. Blood clots can form when proteins that normally prevent them are lost through the urine. Blood clots can block the flow of blood and oxygen through a blood vessel. Loss of immunoglobulinsimmune system proteins that help fight disease and infectionleads to an increased risk of infections. These infections include pneumonia, a lung infection; cellulitis, a skin infection; peritonitis, an abdominal infection; and meningitis, a brain and spine infection. Medications given to treat nephrotic syndrome can also increase the risk of these infections. Other complications of nephrotic syndrome include - hypothyroidisma condition in which the thyroid gland does not produce enough thyroid hormone to meet the bodys needs - anemiaa condition in which red blood cells are fewer or smaller than normal, which means less oxygen is carried to the bodys cells - coronary artery disease, also called coronary heart diseaseheart disease caused by narrowing of the arteries that supply blood to the heart - high blood pressure, also called hypertensiona condition in which blood flows through the blood vessels with a force greater than normal - acute kidney injurysudden and temporary loss of kidney function
Parkes Weber syndrome is a rare condition; its exact prevalence is unknown.
What are the signs and symptoms of Treacher Collins syndrome 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Treacher Collins syndrome 3. 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) Abnormality of the outer ear - Autosomal recessive inheritance - Cleft palate - Lower eyelid coloboma - Malar flattening - Mandibulofacial dysostosis - 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 might Glass-Chapman-Hockley syndrome be treated? Surgery is typically the treatment for craniosynostosis and is based on the person's specific signs and symptoms. The goal is to increase the space in the front (anterior) part of the skull. The operation is usually performed when the person is between 9 to 12 months of age. If other sutures, other than the coronal suture, are involved, other surgeries may be performed.
In most cases, including those caused by mutations in the DCC or RAD51 gene, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the altered gene. Some people who have the altered gene never develop the condition, a situation known as reduced penetrance. Research suggests that in rare cases, this condition may be 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.
Is Marden-Walker syndrome inherited? Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner since cases of affected siblings and parental consanguinity (the parents of the child with the condition are related to each other) have been reported.
Once an individual is out of immediate danger, the medical care team focuses on preventing infections and maintaining a healthy physical state. This will often include preventing pneumonia and bedsores and providing balanced nutrition. Physical therapy may also be used to prevent contractures (permanent muscular contractions) and deformities of the bones, joints, and muscles that would limit recovery for those who emerge from coma.
How might sideroblastic anemia be treated? The treatment of sideroblastic anemia is directed at controlling symptoms of anemia and preventing organ damage from iron overload. Many patients see improvement with increased vitamin B6 intake - either through diet (potatoes, bananas, raisin bran cereal, lentils, liver, turkey, and tuna are good sources) or supplements - with red blood cell counts returning to near-normal values. Folic acid supplementation may also be beneficial. Those that do not respond to vitamin supplementation require blood transfusion. A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered. All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.
Mutations in the PRKAR1A gene cause most cases of Carney complex. This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation). The subunit produced from the PRKAR1A gene, called type 1 alpha, helps control whether protein kinase A is turned on or off. Most mutations in the PRKAR1A gene that cause Carney complex result in an abnormal type 1 alpha subunit that is quickly broken down (degraded) by the cell. The lack of this subunit causes protein kinase A to be turned on more often than normal, which leads to uncontrolled cell proliferation. The signs and symptoms of Carney complex are related to the unregulated growth of cells in many parts of the body. Some individuals with Carney complex do not have identified mutations in the PRKAR1A gene. In many of these cases, the disorder is associated with a specific region on the short (p) arm of chromosome 2, designated as 2p16. Researchers have not discovered the gene within this region that is responsible for Carney complex.
Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body. This type of tumor typically develops in older individuals (after age 40). Each hidradenocarcinoma develops differently over time; some may stay the same size and others grow rapidly. Sometimes it may spread into nearby tissues, or to more distant parts of the body in a process called metastasis. It is not known why some hidradenocarcinomas progress rapidly while others remain stable.
If you spend time outdoors, chances are you have been bothered by poison ivy, poison oak or poison sumac at some point. Most people are sensitive to the plants' oily sap. The sap is in the root, stems, leaves and fruit of these plants. If it gets on your skin, it causes a blistering skin rash. The rash can range from mild to severe, depending on how much sap gets on your skin and how sensitive you are to it. Problems can also happen if the plants are burned. Airborne sap-coated soot can get into the eyes, nose, throat and respiratory system. The best way to avoid the rash is to learn what the plants look like and stay away from them. If you come into contact with the plants, wash your skin and clothing right away. If you develop a rash, ask your pharmacist about over-the-counter medicines. For severe rashes, see your doctor. National Park Service
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.
Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14, sometimes written as r(14). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. People with ring chromosome 14 syndrome have one copy of this abnormal chromosome in some or all of their cells. Researchers believe that several critical genes near the end of the long (q) arm of chromosome 14 are lost when the ring chromosome forms. The loss of these genes is likely responsible for several of the major features of ring chromosome 14 syndrome, including intellectual disability and delayed development. Researchers are still working to determine which missing genes contribute to the signs and symptoms of this disorder. Epilepsy is a common feature of ring chromosome syndromes, including ring chromosome 14. There may be something about the ring structure itself that causes epilepsy. Seizures may occur because certain genes on the ring chromosome 14 are less active than those on the normal chromosome 14. Alternately, seizures might result from instability of the ring chromosome in some cells.
In Europe, the prevalence of oculopharyngeal muscular dystrophy is estimated to be 1 in 100,000 people. The autosomal dominant form of this condition is much more common in the French-Canadian population of the Canadian province of Quebec, where it is estimated to affect 1 in 1,000 individuals. Autosomal dominant oculopharyngeal muscular dystrophy is also seen more frequently in the Bukharan (Central Asian) Jewish population of Israel, affecting 1 in 600 people. The autosomal recessive form of this condition is very rare; only a few cases of autosomal recessive oculopharyngeal muscular dystrophy have been identified.
These resources address the diagnosis or management of spondylothoracic dysostosis: - Cleveland Clinic: Spine X-ray - Gene Review: Gene Review: Spondylocostal Dysostosis, Autosomal Recessive 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
Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness. Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern.
Is Hashimoto's encephalitis inherited? We are aware of only one instance when more than one person in the same family had Hashimoto's encephalitis (HE). To our knowledge, no other cases of familial HE have been reported; HE typically occurs in people with no family history of the condition (sporadically). HE can occur in association with other autoimmune disorders, so HE may develop due to an interaction between genes that predispose a person (susceptibility genes) and environmental triggers.
Is Chiari malformation type 2 inherited? Chiari malformation type 2 typically occurs sporadically (in individuals with no history of the condition in the family). However, the exact cause of Chiari malformation type 2 is not known. Genes may play a role in predisposing an individual to the condition, but environmental factors (such as lack of proper vitamins or nutrients in the maternal diet during pregnancy) may also contribute to the condition. Because the cause is unclear, it is not currently possible to estimate what the recurrence risk for family members may be. There have been reports in the medical literature of families in which more than one family member was affected with a Chiari malformation. However, a search of the available medical literature yields limited information specific to familial cases of Chiari malformation type 2. One article written by Lindenberg and Walker in 1971 describes the Arnold-Chiari malformation in 2 sisters; both also had hydrocephalus and meningomyelocele.
Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most affected individuals die before birth or in early infancy. The cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner.
What causes Eisenmenger syndrome? Eisenmenger syndrome is caused by a defect in the heart. Most often, the defect is one called a ventricular septal defect (VSD), a hole between the two pumping chambers (the left and right ventricles) of the heart. Other heart defects that can lead to Eisenmenger syndrome include atrial septal defect (ASD) and patent ductus arteriosus (PDA). The hole allows blood that has already picked up oxygen from the lungs to flow abnormally back into the lungs, instead of going out to the rest of the body. Over time, this increased blood flow can damage the small blood vessels in the lungs. This causes high blood pressure in the lungs. As a result, the blood backs up and does not go to the lungs to pick up oxygen. Instead, the blood goes from the right side to the left side of the heart, and oxygen-poor blood travels to the rest of the body.
Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature.
How might Brown-Sequard syndrome be treated?
The NINDS conducts and supports research on mitochondrial myopathies. The goals of this research are to increase scientific understanding of these disorders and to find ways to effectively treat, prevent, or potentially cure them.
Chagas disease is caused by a parasite. It is common in Latin America but not in the United States. Infected blood-sucking bugs, sometimes called kissing bugs, spread it. When the bug bites you, usually on your face, it leaves behind infected waste. You can get the infection if you rub it in your eyes or nose, the bite wound or a cut. The disease can also spread through contaminated food, a blood transfusion, a donated organ or from mother to baby during pregnancy. If you notice symptoms, they might include - Fever - Flu-like symptoms - A rash - A swollen eyelid These early symptoms usually go away. However, if you don't treat the infection, it stays in your body. Later, it can cause serious intestinal and heart problems. A physical exam and blood tests can diagnose it. You may also need tests to see whether the disease has affected your intestines and heart. Medicines can kill the parasite, especially early on. You can also treat related problems. For example, a pacemaker helps with certain heart complications. There are no vaccines or medicines to prevent Chagas disease. If you travel to areas where it occurs, you are at higher risk if you sleep outdoors or in poor housing conditions. It is important to use insecticides to prevent bites, and practice food safety. Centers for Disease Control and Prevention
Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and hardening of the affected area; skin rupture; and formation of sinus tracts (holes) that discharge pus and grains filled with organisms. Some affected people have no discomfort while others report itching and/or pain. Mycetoma is rare in the United States, but is commonly diagnosed in Africa, Mexico and India. In these countries, it occurs most frequently in farmers, shepherds, and people living in rural areas. Frequent exposure to penetrating wounds by thorns or splinters is a risk factor. Treatment varies based on the cause of the condition and may include antibiotics or antifungal medications.
These resources address the diagnosis or management of African iron overload: - Genetic Testing Registry: African nutritional hemochromatosis 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 blood in the urine. - Most people with microscopic hematuria do not have symptoms. People with gross hematuria have urine that is pink, red, or cola-colored due to the presence of red blood cells (RBCs). - Hematuria can be caused by menstruation, vigorous exercise, sexual activity, viral illness, trauma, or infection, such as a urinary tract infection (UTI). More serious causes of hematuria include - cancer of the kidney or bladder - inflammation of the kidney, urethra, bladder, or prostate - polycystic kidney disease - blood clots - blood clotting disorders, such as hemophilia - sickle cell disease - When blood is visible in the urine or a dipstick test of the urine indicates the presence of RBCs, the urine is examined with a microscope to make an initial diagnosis of hematuria. The next step is to diagnose the cause of the hematuria. - If a thorough medical history suggests a cause that does not require treatment, the urine should be tested again after 48 hours for the presence of RBCs. If two of three urine samples show too many RBCs when viewed with a microscope, more serious causes should be explored. - One or more of the following tests may be ordered: urinalysis, blood test, biopsy, cytoscopy, and kidney imaging tests. - Hematuria is treated by treating its underlying cause.
Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. Additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings. It is usually caused by mutations in the OPA1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. This condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family. Treatment focuses on individual symptoms when possible.
Rheumatoid arthritis affects about 1.3 million adults in the United States. Worldwide, it is estimated to occur in up to 1 percent of the population. The disease is two to three times more common in women than in men, which may be related to hormonal factors.
How is Kallmann syndrome inherited? Kallmann syndrome (KS) may be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner depending on the gene(s) responsible. For example: KS due to mutations in the KAL1 gene (also called the ANOS1 gene), causing Kallmann syndrome 1, is inherited in an X-linked recessive manner. KS due to mutations in the FGFR1, PROKR2, PROK2, CHD7 or FGF8 genes (causing KS types 2, 3, 4, 5 and 6, respectively) is predominantly inherited in an autosomal dominant manner. KS due to mutations in PROKR2 and PROK2 can also be inherited in an autosomal recessive manner. In the majority of people with KS, the family history appears to be negative (the condition occurs sporadically). However, affected people are still at risk to pass the disease-causing mutation(s) on to their children, or to have an affected child. The risk for each child to be affected depends on the genetic cause in the affected person and may be up to 50%. People with personal questions about the genetic cause and inheritance of KS are encouraged to speak with a genetic counselor or other genetics professional. The genetic cause in many cases remains unknown, and a thorough family history should be obtained to understand the mode of inheritance in each family and to aid in genetic testing and counseling. Information about specific features present or absent in all family members can help determine the mode of inheritance present.
Mutations in the TCF4 gene cause Pitt-Hopkins syndrome. This gene provides instructions for making a protein that attaches (binds) to other proteins and then binds to specific regions of DNA to help control the activity of many other genes. On the basis of its DNA binding and gene controlling activities, the TCF4 protein is known as a transcription factor. The TCF4 protein plays a role in the maturation of cells to carry out specific functions (cell differentiation) and the self-destruction of cells (apoptosis). TCF4 gene mutations disrupt the protein's ability to bind to DNA and control the activity of certain genes. These disruptions, particularly the inability of the TCF4 protein to control the activity of genes involved in nervous system development and function, contribute to the signs and symptoms of Pitt-Hopkins syndrome. Furthermore, additional proteins interact with the TCF4 protein to carry out specific functions. When the TCF4 protein is nonfunctional, these other proteins are also unable to function normally. It is also likely that the loss of the normal proteins that are attached to the nonfunctional TCF4 proteins contribute to the features of this condition. The loss of one protein in particular, the ASCL1 protein, is thought to be associated with breathing problems in people with Pitt-Hopkins syndrome.
- Growth failure is a complication of chronic kidney disease (CKD) in which children do not grow as expected. - Health care providers use charts to monitor the growth of children with CKD and look for signs of growth failure. - Researchers have found that many factors cause growth failure in children with CKD. - Health care providers treat growth failure in children with CKD with - changes in eating, diet, and nutrition - medications - growth hormone therapy - Encouraging children to develop healthy eating habits can help prevent poor nutrition and promote healthy growing. - The health care team will work with parents or caretakers to develop a healthy diet tailored to meet the needs of their child. - When a health care provider diagnoses a child with CKD and the child begins to show signs of growth failure, the health care provider may prescribe daily human growth hormone injections.
Studies estimate that anxiety disorders affect around 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging.
These resources address the diagnosis or management of pulmonary veno-occlusive disease: - Genetic Testing Registry: Pulmonary veno-occlusive disease 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
With treatment, individuals with tethered spinal cord syndrome have a normal life expectancy. However, some neurological and motor impairments may not be fully correctable. Surgery soon after symptoms emerge appears to improve chances for recovery and can prevent further functional decline.
Pudendal neuralgia occurs when the pudendal nerve is injured or compressed. Symptoms include pain, burning, tingling, or numbness in the pelvic or buttock areas; symptoms worsen while an affected individual is in a sitting position. The cause of pudendal neuralgia is unknown. Treatment includes nerve block of the pudendal nerve or surgery to remove surrounding tissues that might be pressing on the nerve.
Post-traumatic stress disorder (PTSD) is a real illness. You can get PTSD after living through or seeing a traumatic event, such as war, a hurricane, sexual assault, physical abuse, or a bad accident. PTSD makes you feel stressed and afraid after the danger is over. It affects your life and the people around you. PTSD can cause problems like - Flashbacks, or feeling like the event is happening again - Trouble sleeping or nightmares - Feeling alone - Angry outbursts - Feeling worried, guilty, or sad PTSD starts at different times for different people. Signs of PTSD may start soon after a frightening event and then continue. Other people develop new or more severe signs months or even years later. PTSD can happen to anyone, even children. Treatment may include talk therapy, medicines, or both. Treatment might take 6 to 12 weeks. For some people, it takes longer. NIH: National Institute of Mental Health
Optic atrophy type 1 is estimated to affect 1 in 50,000 people worldwide. This condition is more common in Denmark, where it affects approximately 1 in 10,000 people.
Insomnia is a common disorder. It affects women more often than men. The disorder can occur at any age. However, older adults are more likely to have insomnia than younger people. People who might be at increased risk for insomnia include those who: Have a lot of stress. Are depressed or have other emotional distress, such as divorce or death of a spouse. Have lower incomes. Work at night or have frequent major shifts in their work hours. Travel long distances with time changes. Have certain medical conditions or sleep disorders that can disrupt sleep. For more information, go to "What Causes Insomnia?" Have an inactive lifestyle. Young and middle-aged African Americans also might be at increased risk for insomnia. Research shows that, compared with Caucasian Americans, it takes African Americans longer to fall asleep. They also have lighter sleep, don't sleep as well, and take more naps. Sleep-related breathing problems also are more common among African Americans.
These resources address the diagnosis or management of eosinophil peroxidase deficiency: - Genetic Testing Registry: Eosinophil peroxidase deficiency - Tulane University Eosinophilic Disorder Center 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
Mutations in the F2 gene cause prothrombin deficiency. The F2 gene provides instructions for making the prothrombin protein (also called coagulation factor II), which plays a critical role in the formation of blood clots in response to injury. Prothrombin is the precursor to thrombin, a protein that initiates a series of chemical reactions to form a blood clot. After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. F2 gene mutations reduce the production of prothrombin in cells, which prevents clots from forming properly in response to injury. Problems with blood clotting can lead to excessive bleeding. Some mutations drastically reduce the activity of prothrombin and can lead to severe bleeding episodes. Other F2 gene mutations allow for a moderate amount of prothrombin activity, typically resulting in mild bleeding episodes.
Mutations in and near the TAF1 gene can cause X-linked dystonia-parkinsonism. The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). This protein is active in cells and tissues throughout the body, where it plays an essential role in regulating the activity of most genes. The TAF1 gene is part of a complex region of DNA known as the TAF1/DYT3 multiple transcript system. This region consists of short stretches of DNA from the TAF1 gene plus some extra segments of genetic material near the gene. These stretches of DNA can be combined in different ways to create various sets of instructions for making proteins. Researchers believe that some of these variations are critical for the normal function of nerve cells (neurons) in the brain. Several changes in the TAF1/DYT3 multiple transcript system have been identified in people with X-linked dystonia-parkinsonism. Scientists are uncertain how these changes are related to the movement abnormalities characteristic of this disease. However, they suspect that the changes disrupt the regulation of critical genes in neurons. This defect leads to the eventual death of these cells, particularly in areas of the brain called the caudate nucleus and putamen. These regions are critical for normal movement, learning, and memory. It is unclear why the effects of changes in the TAF1/DYT3 multiple transcript system appear to be limited to dystonia and parkinsonism.
These resources address the diagnosis or management of adenylosuccinate lyase deficiency: - Genetic Testing Registry: Adenylosuccinate lyase 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
How is Greig cephalopolysyndactyly syndrome inherited? Greig cephalopolysyndactyly syndrome (GCPS) is often inherited in an autosomal dominant pattern. This means that to be affected, a person only needs a change (mutation) in one copy of the GLI3 gene in each cell. In some cases, an affected person inherits a gene mutation or chromosomal abnormality from one affected parent. Other cases occur in people with no history of the condition in their family. A person with GCPS syndrome has a 50% chance with each pregnancy of passing the altered gene to his or her child.
Pull-through Procedure HD is treated with surgery called a pull-through procedure. A surgeon removes the segment of the large intestine lacking nerve cells and connects the healthy segment to the anus. The pull-through procedure is usually done soon after diagnosis. Ostomy surgery An ostomy allows stool to leave the body through an opening in the abdomen. Although most children with HD do not need an ostomy, a child who has been very sick from HD may need an ostomy to get better before the pull-through procedure. For ostomy surgery, the surgeon first takes out the diseased segment of the large intestine. The end of the healthy intestine is moved to an opening in the abdomen where a stoma is created. A stoma is created by rolling the intestines end back on itself, like a shirt cuff, and stitching it to the abdominal wall. An ostomy pouch is attached to the stoma and worn outside the body to collect stool. The pouch will need to be emptied several times each day. If the surgeon removes the entire large intestine and connects the small intestine to the stoma, the surgery is called an ileostomy. If the surgeon leaves part of the large intestine and connects it to the stoma, the surgery is called a colostomy. Later, during the pull-through procedure, the surgeon removes the stoma and closes the abdomen with stitches.
The two forms of mandibuloacral dysplasia are caused by mutations in different genes. Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes. The LMNA gene provides instructions for making two related proteins, lamin A and lamin C. These proteins act as scaffolding (supporting) components of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus and may help regulate the activity of certain genes. Mutations in this gene likely change the structure of lamin A and lamin C. The lamin A protein (but not lamin C) must be processed within the cell before becoming part of the nuclear envelope. The protein produced from the ZMPSTE24 gene is involved in this processing; it cuts the immature lamin A protein (prelamin A) at a particular location, forming mature lamin A. Mutations in the ZMPSTE24 gene lead to a buildup of prelamin A and a shortage of the mature protein. Mutations in the LMNA or ZMPSTE24 gene likely disrupt the structure of the nuclear envelope. Researchers are working to understand how these genetic changes result in the signs and symptoms of mandibuloacral dysplasia.
Cold weather can affect your body in different ways. You can get frostbite, which is frozen body tissue. Your body can also lose heat faster than you can produce it. The result is hypothermia, or abnormally low body temperature. It can make you sleepy, confused and clumsy. Because it happens gradually and affects your thinking, you may not realize you need help. That makes it especially dangerous. A body temperature below 95 F is a medical emergency and can lead to death if not treated promptly. Anyone who spends much time outdoors in cold weather can get hypothermia. You can also get it from being cold and wet, or under cold water for too long. Babies and old people are especially at risk. Babies can get it from sleeping in a cold room. Centers for Disease Control and Prevention
Blibbernutz disease causes patients to involuntarily dance whenever they hear elevator music. Treatment includes noise-canceling headphones and specialized "anti-groove" therapy where patients practice standing completely still while "The Girl from Ipanema" plays at increasing volumes.
What causes factor V Leiden thrombophilia? Factor V Leiden thrombophilia is caused by a specific mutation in the Factor V gene. Factor V plays a critical role in the formation of blood clots in response to injury. Genes are our bodys instructions for making proteins. The factor V gene instructs the body how to make a protein called coagulation factor V. Coagulation factor V is involved in a series of chemical reactions that hold blood clots together. A molecule called activated protein C (APC) prevents blood clots from growing too large by inactivating factor V.
What are the signs and symptoms of Lucey-Driscoll syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lucey-Driscoll syndrome. 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 recessive inheritance - Cerebral palsy - Jaundice - Kernicterus - Neonatal unconjugated hyperbilirubinemia - 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.
Mutations in the GFAP gene cause Alexander disease. The GFAP gene provides instructions for making a protein called glial fibrillary acidic protein. Several molecules of this protein bind together to form intermediate filaments, which provide support and strength to cells. Mutations in the GFAP gene lead to the production of a structurally altered glial fibrillary acidic protein. The altered protein is thought to impair the formation of normal intermediate filaments. As a result, the abnormal glial fibrillary acidic protein likely accumulates in astroglial cells, leading to the formation of Rosenthal fibers, which impair cell function. It is not well understood how impaired astroglial cells contribute to the abnormal formation or maintenance of myelin, leading to the signs and symptoms of Alexander disease.
DMD-associated dilated cardiomyopathy is a form of heart disease that is caused by mutations in the DMD gene. Dilated cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. In males with DMD-associated dilated cardiomyopathy, heart problems usually develop early in life and worsen quickly, leading to heart failure in adolescence or early adulthood. In affected females, the condition appears later in life and worsens more slowly. Dilated cardiomyopathy is a feature of two related conditions that are also caused by mutations in the DMD gene: Duchenne and Becker muscular dystrophy. In addition to heart disease, these conditions are characterized by progressive weakness and wasting of muscles used for movement (skeletal muscles). People with DMD-associated dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing. Based on these skeletal muscle changes, DMD-associated dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy.
These resources address the diagnosis or management of congenital stromal corneal dystrophy: - Gene Review: Gene Review: Congenital Stromal Corneal Dystrophy - Genetic Testing Registry: Congenital Stromal Corneal Dystrophy - MedlinePlus Encyclopedia: Cloudy Cornea 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
Most cases of spina bifida are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (such as siblings and children) of people with spina bifida have an increased risk of the condition compared with people in the general population.
Hereditary paraganglioma-pheochromocytoma is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors. An additional mutation that deletes the normal copy of the gene is needed to cause the condition. This second mutation, called a somatic mutation, is acquired during a person's lifetime and is present only in tumor cells. The risk of developing hereditary paraganglioma-pheochromocytoma types 1 and 2 is passed on only if the mutated copy of the gene is inherited from the father. The mechanism of this pattern of inheritance is unknown. The risk of developing types 3 and 4 can be inherited from the mother or the father.
How is Nicolaides-Baraitser syndrome inherited? Nicolaides-Baraitser syndrome (NCBRS) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the two copies of the responsible gene in each cell is enough to cause features of the condition. All known cases of NCBRS have been sporadic. This means it is thought that the mutation occurred for the first time in each affected person (called a de novo mutation). There have not been reports of NCBRS being inherited from a parent, or recurring in any family (with the exception of one pair of identical twins).
The prevalence of Guillain-Barr syndrome is estimated to be 6 to 40 cases per 1 million people. The occurrence of the different types of Guillain-Barr syndrome varies across regions. AIDP is the most common type in North America and Europe, accounting for approximately 90 percent of cases of Guillain-Barr syndrome in those regions. AMAN and AMSAN together account for 30 to 50 percent of cases in Asian countries and Latin America but only 3 to 5 percent of cases in North America and Europe. Miller Fisher syndrome is also more common in Asian countries, accounting for approximately 20 percent of cases in these countries but less than 5 percent in North America and Europe.
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. The first symptom in people with this disorder is usually droopy eyelids (ptosis), followed by difficulty swallowing (dysphagia). The swallowing difficulties begin with food, but as the condition progresses, liquids can be difficult to swallow as well. Many people with this condition have weakness and wasting (atrophy) of the tongue. These problems with food intake may cause malnutrition. Some affected individuals also have weakness in other facial muscles. Individuals with oculopharyngeal muscular dystrophy frequently have weakness in the muscles near the center of the body (proximal muscles), particularly muscles in the upper legs and hips. The weakness progresses slowly over time, and people may need the aid of a cane or a walker. Rarely, affected individuals need wheelchair assistance. There are two types of oculopharyngeal muscular dystrophy, which are distinguished by their pattern of inheritance. They are known as the autosomal dominant and autosomal recessive types.
The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, meaning not cancerous, or malignant, meaning cancerous.
How might reticulohistiocytoma be treated? Reticulohistiocytoma (RH) typically resolve spontaneously over a period of months to years; however, surgical excision usually results in a cure.
The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures. Some will survive, but show no significant development -- usually not beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence. Because of this range, it is important to seek the opinion of specialists in lissencephaly and support from family groups with connection to these specialists.
What causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called "carnitine-acylcarnitine translocase" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. It also helps to break down fat already stored in the body. Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat for energy when we don't eat for a stretch of time - like when we miss a meal or when we sleep. When the CAT normal enzyme is missing or not working well, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood.
The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong -- cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous.
Steatocystoma multiplex is a condition characterized by numerous skin cysts that tend to develop during puberty. Cysts most often develop on the chest, upper arms and face, but may develop all over the body in some cases. The cysts may become inflamed and cause scarring when they heal. The condition is thought to be caused by mutations in the KRT17 gene and appears to be inherited in an autosomal dominant manner. Some researchers have suggested that the condition may be a mild variant of pachyonychia congenita type 2. Treatment may include minor surgery to remove cysts and oral antibiotics or oral isotretinoin to reduce inflammation.
Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children.
These resources address the diagnosis or management of breast cancer: - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer - Gene Review: Gene Review: Li-Fraumeni Syndrome - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Gene Review: Gene Review: Peutz-Jeghers Syndrome - Genetic Testing Registry: Familial cancer of breast - Genomics Education Programme (UK): Hereditary Breast and Ovarian Cancer - National Cancer Institute: Breast Cancer Risk Assessment Tool - National Cancer Institute: Genetic Testing for BRCA1 and BRCA2: It's Your Choice - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes 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 collapsed lung happens when air enters the pleural space, the area between the lung and the chest wall. If it is a total collapse, it is called pneumothorax. If only part of the lung is affected, it is called atelectasis. Causes of a collapsed lung include - Lung diseases such as pneumonia or lung cancer - Being on a breathing machine - Surgery on the chest or abdomen - A blocked airway If only a small area of the lung is affected, you may not have symptoms. If a large area is affected, you may feel short of breath and have a rapid heart rate. A chest x-ray can tell if you have it. Treatment depends on the underlying cause. NIH: National Heart, Lung, and Blood Institute
Most cases of keratoderma with woolly hair have an autosomal recessive pattern of inheritance, 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 usually do not show signs and symptoms of the condition.
ILS affects approximately 1 in 100,000 newborns.
Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.
If your child has patent ductus arteriosus (PDA), you may think you did something wrong during your pregnancy to cause the problem. However, the cause of patent ductus arteriosus isn't known. Genetics may play a role in causing the condition. A defect in one or more genes might prevent the ductus arteriosus from closing after birth.
Summary : Diagnostic imaging lets doctors look inside your body for clues about a medical condition. A variety of machines and techniques can create pictures of the structures and activities inside your body. The type of imaging your doctor uses depends on your symptoms and the part of your body being examined. They include - X-rays - CT scans - Nuclear medicine scans - MRI scans - Ultrasound Many imaging tests are painless and easy. Some require you to stay still for a long time inside a machine. This can be uncomfortable. Certain tests involve exposure to a small amount of radiation. For some imaging tests, doctors insert a tiny camera attached to a long, thin tube into your body. This tool is called a scope. The doctor moves it through a body passageway or opening to see inside a particular organ, such as your heart, lungs, or colon. These procedures often require anesthesia.
These resources address the diagnosis or management of Darier disease: - Genetic Testing Registry: Keratosis follicularis 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
What are the signs and symptoms of Rhabdomyosarcoma alveolar? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdomyosarcoma alveolar. 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) Alveolar rhabdomyosarcoma - Autosomal recessive inheritance - 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.
Is genetic testing available for fragile X syndrome? Yes, genetic testing is available for fragile X syndrome. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the diagnosis of an FMR1-related disorder (including fragile X syndrome) has been confirmed in a family member. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for fragile X syndrome. The intended audience for the GTR is health care providers and researchers. People with questions about genetic testing should speak with a health care provider or genetics professional.
Dyskeratosis congenita can have different inheritance patterns. When dyskeratosis congenita is caused by DKC1 gene mutations, it is inherited in an X-linked recessive pattern. The DKC1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When dyskeratosis congenita is caused by mutations in other genes, it can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one copy of the altered gene in each cell is sufficient to cause the disorder. Autosomal recessive 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.
Is genetic testing available for occipital horn syndrome?
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. Thyroid problems include - Goiter - enlargement of the thyroid gland - Hyperthyroidism - when your thyroid gland makes more thyroid hormones than your body needs - Hypothyroidism - when your thyroid gland does not make enough thyroid hormones - Thyroid cancer - Thyroid nodules - lumps in the thyroid gland - Thyroiditis - swelling of the thyroid Dept. of Health and Human Services Office on Women's Health
Complications of Peyronies disease may include - the inability to have sexual intercourse - ED - anxiety, or stress, about sexual abilities or the appearance of the penis - stress on a relationship with a sexual partner - problems fathering a child because intercourse is difficult
For most adults, moderate alcohol use is probably not harmful. However, about 18 million adult Americans have an alcohol use disorder. This means that their drinking causes distress and harm. It includes alcoholism and alcohol abuse. Alcoholism, or alcohol dependence, is a disease that causes - Craving - a strong need to drink - Loss of control - not being able to stop drinking once you've started - Physical dependence - withdrawal symptoms - Tolerance - the need to drink more alcohol to feel the same effect With alcohol abuse, you are not physically dependent, but you still have a serious problem. The drinking may cause problems at home, work, or school. It may cause you to put yourself in dangerous situations, or lead to legal or social problems. Another common problem is binge drinking. It is drinking about five or more drinks in two hours for men. For women, it is about four or more drinks in two hours. Too much alcohol is dangerous. Heavy drinking can increase the risk of certain cancers. It can cause damage to the liver, brain, and other organs. Drinking during pregnancy can harm your baby. Alcohol also increases the risk of death from car crashes, injuries, homicide, and suicide. If you want to stop drinking, there is help. Start by talking to your health care provider. Treatment may include medicines, counseling, and support groups. NIH: National Institute on Alcohol Abuse and Alcoholism
Sjgren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjgren's syndrome is also associated with rheumatic disorders such as rheumatoid arthritis. The hallmark symptoms of the disorder are dry mouth and dry eyes. In addition, Sjogren's syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain. Sjgren's syndrome affects 1-4 million people in the United States. Most people are more than 40 years old at the time of diagnosis. Women are 9 times more likely to have Sjgren's syndrome than men.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.
Food or small objects can cause choking if they get caught in your throat and block your airway. This keeps oxygen from getting to your lungs and brain. If your brain goes without oxygen for more than four minutes, you could have brain damage or die. Young children are at an especially high risk of choking. They can choke on foods like hot dogs, nuts and grapes, and on small objects like toy pieces and coins. Keep hazards out of their reach and supervise them when they eat. When someone is choking, quick action can be lifesaving. Learn how to do back blows, the Heimlich maneuver (abdominal thrusts), and CPR.
These resources address the diagnosis or management of dopamine transporter deficiency syndrome: - Gene Review: Gene Review: Parkinson Disease Overview - Genetic Testing Registry: Infantile Parkinsonism-dystonia 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
What are the signs and symptoms of Papillary thyroid carcinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Papillary thyroid carcinoma. 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 - Papillary thyroid carcinoma - 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.
The NINDS supports research on neurological disorders that can cause locked-in syndrome. The goals of this research are to find ways to prevent, treat, and cure these disorders.
What are the signs and symptoms of Lattice corneal dystrophy type 3A? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 3A. 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 - Corneal erosion - Lattice corneal dystrophy - Reduced visual acuity - Visual impairment - 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.
Summary : Millions of consumers get health information from magazines, TV or the Internet. Some of the information is reliable and up to date; some is not. How can you tell the good from the bad? First, consider the source. If you use the Web, look for an "about us" page. Check to see who runs the site: Is it a branch of the government, a university, a health organization, a hospital or a business? Focus on quality. Does the site have an editorial board? Is the information reviewed before it is posted? Be skeptical. Things that sound too good to be true often are. You want current, unbiased information based on research. NIH: National Library of Medicine
These resources address the diagnosis or management of tuberous sclerosis complex: - Gene Review: Gene Review: Tuberous Sclerosis Complex - Genetic Testing Registry: Tuberous sclerosis syndrome - MedlinePlus Encyclopedia: Tuberous Sclerosis - Tuberous Sclerosis Alliance: TSC Clinics 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
Smoking has been found to increase the risk of cancers of the3 - mouth - esophagus - stomach - pancreas 3 , 4 , 5 - liver - colon - rectum More information about the link between smoking and cancers of the digestive system can be found on the National Cancer Institute website at www.cancer.gov/cancertopics/tobacco/smoking.
If you have kidney failure, learn about the treatments and think about which one best fits you. Talk with people who are on hemodialysis or peritoneal dialysis. Ask what is good and bad about each treatment. If you make a choice and find you dont like it, talk with your doctor about trying something else. Ask your doctor about the transplant waiting list and the medicines needed after a transplant. Talk with people who have had kidney transplants and ask how it has changed their lives. If you plan to keep working, think about which treatment choice would make working easier. If spending time with family and friends means a lot to you, ask which treatment gives you the most free time. Find out which treatment will give you the best chance to be healthy and live longer. If you are thinking about conservative management, you may wish to speak with your family, friends, doctor, or mental health counselor as you decide. You can take control of your care by talking with your doctor. You may need time to get used to your new treatment. Kidney failure can make your life harder. Treatments can help improve your life.
What are the signs and symptoms of Benign paroxysmal positional vertigo? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign paroxysmal positional vertigo. 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 - Gait imbalance - Slow progression - Vertigo - 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.
Surgery may permanently or temporarily relieve symptoms, but it can also cause a number of severe complications. In rare cases, hydromyelia may resolve on its own without any medical intervention.