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Trismus-pseudocamptodactyly syndrome is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. Both sporadic occurrence and autosomal dominant inheritance have been reported in the medical literature. The most serious complications of the condition occur as a result of the limited mobility of the mouth. Treatment may involve surgical correction and physical therapy.
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.
Summary : Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A genetic counselor meets with you to discuss genetic risks. The counseling may be for yourself or a family member. Or you may get it when you are planning or expecting a baby. You may follow up with genetic testing. There are many reasons to seek genetic counseling. You may consider it if you - Have a personal or family history of a genetic condition or birth defect - Are pregnant or planning to be pregnant after age 35 - Already have a child with a genetic disorder or birth defect - Have had two or more pregnancy losses or a baby who died - Have had ultrasound or screening tests that suggest a possible problem Genetics Home Reference
- a need to urinate frequently, especially at night - difficulty starting urination or holding back urine - inability to urinate - weak or interrupted flow of urine a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of urine If prostate cancer develops and is not treated, it can cause these symptoms: - painful or burning urination - difficulty in having an erection - painful ejaculation - blood in urine or semen - pain or stiffness in the lower back, hips, or upper thighs painful or burning urination difficulty in having an erection painful ejaculation blood in urine or semen pain or stiffness in the lower back, hips, or upper thighs
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing kidney dysplasia.
Mutations in the FAS gene cause ALPS in approximately 75 percent of affected individuals. The FAS gene provides instructions for making a protein involved in cell signaling that results in the self-destruction of cells (apoptosis). When the immune system is turned on (activated) to fight an infection, large numbers of lymphocytes are produced. Normally, these lymphocytes undergo apoptosis when they are no longer required. FAS gene mutations result in an abnormal protein that interferes with apoptosis. Excess lymphocytes accumulate in the body's tissues and organs and often begin attacking them, leading to autoimmune disorders. Interference with apoptosis allows cells to multiply without control, leading to the lymphomas and other cancers that occur in people with this disorder. ALPS may also be caused by mutations in additional genes, some of which have not been identified.
PXE is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. In a few cases, an affected individual has one affected parent and one parent without the signs and symptoms of the disorder. This situation resembles autosomal dominant inheritance, in which one copy of an altered gene in each cell is sufficient to cause a disorder and the mutation is typically inherited from one affected parent. In these cases of PXE, however, the parent without apparent symptoms has an ABCC6 gene mutation. The affected offspring inherits two altered genes, one from each parent. This appearance of autosomal dominant inheritance when the pattern is actually autosomal recessive is called pseudodominance.
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.
These resources address the diagnosis or management of sialidosis: - Genetic Testing Registry: Sialidosis type I - Genetic Testing Registry: Sialidosis, type II - MedlinePlus Encyclopedia: Ascites - MedlinePlus Encyclopedia: Hydrops Fetalis 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 low back pain can be treated without surgery. Treatment involves using over-the-counter pain relievers to reduce discomfort and anti-inflammatory drugs to reduce inflammation. The goal of treatment is to restore proper function and strength to the back, and prevent recurrence of the injury. Medications are often used to treat acute and chronic low back pain. Effective pain relief may involve a combination of prescription drugs and over-the-counter remedies. Although the use of cold and hot compresses has never been scientifically proven to quickly resolve low back injury, compresses may help reduce pain and inflammation and allow greater mobility for some individuals. Bed rest is recommended for only 12 days at most. Individuals should resume activities as soon as possible. Exercise may be the most effective way to speed recovery from low back pain and help strengthen back and abdominal muscles. In the most serious cases, when the condition does not respond to other therapies, surgery may relieve pain caused by back problems or serious musculoskeletal injuries.
SIDDT has been diagnosed in more than 20 infants from a single Old Order Amish community in Pennsylvania. The condition has not been reported outside this community.
Before you were on dialysis, your doctor may have told you to follow a low-protein diet. Being on dialysis changes this. Most people on dialysis are encouraged to eat as much high-quality protein as they can. Protein helps you keep muscle and repair tissue. The better nourished you are, the healthier you will be. You will also have greater resistance to infection and recover from surgery more quickly. Your body breaks protein down into a waste product called urea. If urea builds up in your blood, it's a sign you have become very sick. Eating mostly high-quality proteins is important because they produce less waste than others. High-quality proteins come from meat, fish, poultry, and eggs (especially egg whites). Talk With a Dietitian Meat, fish, and chicken are good sources of protein. Talk with a dietitian about the meats you eat. I will eat ______ servings of meat each day. A regular serving size is 3 ounces. This is about the size of the palm of your hand or a deck of cards. Try to choose lean (low-fat) meats that are also low in phosphorus. If you are a vegetarian, ask about other ways to get your protein. Low-fat milk is a good source of protein. But milk is high in phosphorus and potassium. And milk adds to your fluid intake. Talk with a dietitian to see if milk fits into your food plan. I (will) (will not) drink milk. I will drink ______ cup(s) of milk a day.
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, 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.
Familial dysautonomia occurs primarily in people of Ashkenazi (central or eastern European) Jewish descent. It affects about 1 in 3,700 individuals in Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the general population.
Mutations in the FTL gene cause neuroferritinopathy. The FTL gene provides instructions for making the ferritin light chain, which is one part (subunit) of a protein called ferritin. Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms. This storage capacity allows ferritin to regulate the amount of iron in the cells and tissues. Mutations in the FTL gene that cause neuroferritinopathy are believed to reduce ferritin's ability to store iron, resulting in the release of excess iron in nerve cells (neurons) of the brain. The cells may respond by producing more ferritin in an attempt to handle the free iron. Excess iron and ferritin accumulate in the brain, particularly in the basal ganglia, resulting in the movement problems and other neurological changes seen in neuroferritinopathy.
These resources address the diagnosis or management of polymicrogyria: - Gene Review: Gene Review: Polymicrogyria Overview - Genetic Testing Registry: Congenital bilateral perisylvian syndrome - Genetic Testing Registry: Polymicrogyria, asymmetric - Genetic Testing Registry: Polymicrogyria, bilateral frontoparietal - Genetic Testing Registry: Polymicrogyria, bilateral occipital 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
During the acute febrile phase, Lujo virus was isolated from blood from days 2 to 13 after onset. Virus was also isolated from liver tissue obtained post-mortem. A subsequent complete genomic analysis of Lujo virus facilitated the development of specific molecular detection (RT-PCR) assays. Serologic diagnosis of Lujo hemorrhagic fever can be made by indirect immunofluorescent assay and ELISA. However, individuals from endemic areas displaying fever, rash, pharyngitis, accompanied by laboratory findings of low platelet counts and elevated liver enzymes, should be suspected of having a hemorrhagic fever virus infection. Clinical specimens should be tested using specific assays.
How might lymphomatoid papulosis be treated? Localized mildly itchy skin lesions may be treated with mid- to high-potency topical steroids to hasten healing, or with more aggressive topical therapies (e.g.,phototherapy) to suppress the disease and the possibility of progression to lymphoma. Low-dose weekly methotrexate has been used to suppress the condition with some success, however the treatment effects are not lasting. Oral psoralen plus UVA phototherapy may also effectively treat and suppresses the disease. A few reports have found that following treatments may also help with disease suppression: Topical carmustine Topical nitrogen mustard Topical MTX Topical imiquimod cream Intralesional interferon Low-dose cyclophosphamide Chlorambucil Medium-dose UVA-1 therapy Excimer laser therapy Dapsone
The mission of the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health), is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research to find ways to treat and prevent lipid storage disorders such as Gaucher disease. For example, researchers hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for Gaucher disease and other lipid storage diseases; and identify genetic, biochemical, and clinical factors that are associated with disease severity in individuals with Gaucher disease.Additional research is looking at the increased buildup of the protein alpha-synuclein, which is seen in Gaucher disease, Parkinson's disease, and Lewy Body Dementia. Using different models of glucoserebrosidase deficiency, scientists hope to learn how this deficiency impairs the breakdown of lysosomal proteins, including the breakdown of alpha-synuclein.
Autoimmune hepatitis is a disease in which the bodys immune system attacks liver cells. This immune response causes inflammation of the liver, also called hepatitis. The disease can be quite serious and, if not treated, gets worse over time, leading to cirrhosis of the liver and/or liver failure. Autoimmune hepatitis sometimes occurs in relatives of people with autoimmune diseases, suggesting a genetic cause. This disease is most common in young girls and women.
What are the signs and symptoms of Birdshot chorioretinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Birdshot chorioretinopathy. 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 - Chorioretinal abnormality - Posterior uveitis - Retinal pigment epithelial atrophy - Visual impairment - Vitritis - 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.
Many women have the baby blues after childbirth. If you have the baby blues, you may have mood swings, feel sad, anxious or overwhelmed, have crying spells, lose your appetite, or have trouble sleeping. The baby blues most often go away within a few days or a week. The symptoms are not severe and do not need treatment. The symptoms of postpartum depression last longer and are more severe. You may also feel hopeless and worthless, and lose interest in the baby. You may have thoughts of hurting yourself or the baby. Very rarely, new mothers develop something even more serious. They may have hallucinations or try to hurt themselves or the baby. They need to get treatment right away, often in the hospital. Postpartum depression can begin anytime within the first year after childbirth. The cause is not known. Hormonal and physical changes after birth and the stress of caring for a new baby may play a role. Women who have had depression are at higher risk. If you think you have postpartum depression, tell your health care provider. Medicines, including antidepressants and talk therapy can help you get well. Dept. of Health and Human Services Office on Women's Health
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. This condition is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes.
Regular health exams and tests can help find problems before they start. They also can help find problems early, when your chances for treatment and cure are better. Which exams and screenings you need depends on your age, health and family history, and lifestyle choices such as what you eat, how active you are, and whether you smoke. To make the most of your next check-up, here are some things to do before you go: - Review your family health history - Find out if you are due for any general screenings or vaccinations - Write down a list of issues and questions to take with you Centers for Disease Control and Prevention
Desmoid tumors are rare, affecting an estimated 1 to 2 per 500,000 people worldwide. In the United States, 900 to 1,500 new cases are diagnosed per year. Sporadic desmoid tumors are more common than those associated with familial adenomatous polyposis.
Fetal retinoid syndrome is a characteristic pattern of physical and mental birth defects that results from maternal use of retinoids during pregnancy. The most well known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne. Birth defects associated with fetal retinoid syndrome include: hydrocephalus, microcephaly, intellectual disabilities, ear and eye abnormalities, cleft palate and other facial differences, and heart defects. Isotretinoin can cause these birth defects in the early weeks of pregnancy, even before a woman knows that she is pregnant.
What causes protein C deficiency? Protein C deficiency can be inherited or acquired later in life. Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein C cannot control blood clotting, abnormal blood clots may form. Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), and vitamin K deficiency. Treatment with warfarin or certain types of chemotherapy can also cause acquired protein C deficiency.
Meningoencephalocele is a type of encephalocele, which is an abnormal sac of fluid, brain tissue, and meninges (membranes that cover the brain and spinal cord) that extends through a defect in the skull. There are two main types of meningoencephalocele, which are named according to the location of the sac. The frontoethmoidal type is located at the frontal and ethmoid bones while the occipital type is located at the occipital bone. Hydrocephalus, abnormalities of the eyeball and tear duct, and other findings have been associated with the condition. Some affected individuals have intellectual or physical disabilities while others have normal development and abilities. The condition is typically congenital (present at birth) but has been reported to develop by chance in older individuals in rare cases. The underlying cause of the condition is uncertain, but environmental factors are thought to play a role. Treatment depends on the size, location and severity of the defect but mainly includes magnetic resonance imaging (MRI) to determine the severity of the defect, followed by surgery to repair it.
Cap myopathy is an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.
These resources address the diagnosis or management of Dowling-Degos disease: - Cleveland Clinic: Skin Care Concerns - Genetic Testing Registry: Reticulate acropigmentation of Kitamura 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 cause of pituitary tumors remains largely unknown. Most pituitary tumors are sporadic, meaning they are not genetically passed from parents to their children.
Felty's syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Felty's syndrome are asymptomatic, others can develop serious and life-threatening infections. Symptoms of Felty's syndrome, in addition to those associated with the three conditions stated above, may include fatigue, fever, weight loss, discoloration of patches of skin, mild hepatomegaly (enlarged liver), lymphadenopathy (swelling of lymph nodes), Sjgren syndrome, vasculitis, lower-extremity ulcers, and other findings. The exact cause is unknown, but several risk factors have been proposed, including autoimmunity. A few familial cases of the condition have been reported. Treatment typically focuses on controlling the underlying RA; immunosuppressive therapy for RA may improve neutropenia and splenomegaly.
Neurogenic diabetes insipidus is a disease that causes frequent urination. This type of diabetes insipidus results from damage to the pituitary gland, which disrupts the normal storage and release of antidiuretic hormone (ADH). When this hormone reaches the kidneys, it directs them to make less urine. Damage to the pituitary gland can be caused by different diseases as well as by head injuries, neurosurgery, or genetic disorders. To treat the ADH deficiency that results from any kind of damage to the pituitary, a synthetic hormone called desmopressin can be taken by an injection, a nasal spray, or a pill.
Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.
What are the signs and symptoms associated with congenital laryngeal paralysis? The following online resources provide information on the signs and symptoms of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis Medscape Reference - Congenital Malformations of the Larynx
What are the signs and symptoms of Familial juvenile hyperuricaemic nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial juvenile hyperuricaemic nephropathy. 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 - Gout - Juvenile onset - Nephropathy - Progressive - Renal insufficiency - Tubular atrophy - 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.
The prognosis is dependent upon the specific syndrome, however, some of the syndromes are fatal if left untreated.
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults and the amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder.
What are the signs and symptoms of His bundle tachycardia? The Human Phenotype Ontology provides the following list of signs and symptoms for His bundle tachycardia. 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) Arrhythmia 90% Hypertrophic cardiomyopathy 50% Neoplasm of the heart 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.
Treatments for cephalic disorders depend upon the particular type of disorder. For most cephalic disorders, treatment is only symptomatic and supportive. In some cases, anticonvulsant medications shunts, or physical therapy are appropriate.
Dopa-responsive dystonia is estimated to affect 1 per million people worldwide. However, the disorder is likely underdiagnosed because the condition may not be identified in people with mild symptoms, or it may be misdiagnosed in people who have symptoms similar to other movement disorders.
The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, and also support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Zellweger syndrome.
How is Singleton Merten syndrome diagnosed? The diagnosis of Singleton Merten syndrome may be suspected during infancy based upon the identification of characteristic physical findings (i.e., muscle weakness, muscle atrophy, dental abnormalities, and skeletal changes). A diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and/or a variety of specialized tests. The identification of calcium deposits in the aorta, in association with the other findings described above, strongly suggests a diagnosis of Singleton Merten syndrome. X-ray tests may be used to confirm the presence and extent of calcifications in the aorta. Obstruction or narrowing (stenosis) of the heart valves, particularly the aortic and mitral valves, may be confirmed by cardiac catheterization. During this procedure, a small hollow tube (catheter) is inserted into a large vein and threaded through the blood vessels leading to the heart. This procedure allows physicians to determine the rate of blood flow through the heart and measure the pressure within the heart. X-ray studies may also be performed to confirm the presence and extent of osteoporosis. Osteoporosis may be suspected when bone fractures occur more frequently than usual. X-ray tests may also reveal abnormal widening of the hollow parts of the bones that contain soft fatty tissue (bone marrow cavities) within the bones of the hands and/or feet.
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination.
Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In response to injury, fibrinogen is converted to fibrin, the main protein in blood clots. Fibrin proteins attach to each other, forming a stable network that makes up the blood clot. Congenital afibrinogenemia is caused by a complete absence of fibrinogen protein. Most FGA, FGB, and FGG gene mutations that cause this condition result in a premature stop signal in the instructions for making the respective protein. If any protein is made, it is nonfunctional. When any one subunit is missing, the fibrinogen protein is not assembled, which results in the absence of fibrin. Consequently, blood clots do not form in response to injury, leading to the excessive bleeding seen in people with congenital afibrinogenemia.
Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occurs in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs. Most people with prothrombin thrombophilia never develop abnormal blood clots, however. Some research suggests that prothrombin thrombophilia is associated with a somewhat increased risk of pregnancy loss (miscarriage) and may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). It is important to note, however, that most women with prothrombin thrombophilia have normal pregnancies.
Schnitzler syndrome is a rare autoinflammatory condition. Signs and symptoms of the condition vary but may include urticaria; recurrent fevers; joint pain and inflammation; organomegaly (abnormally enlarged organs); and/or blood abnormalities. The exact underlying cause of the condition is unknown; however, most cases occur sporadically in people with no family history of the condition. Treatment is focused on alleviating the signs and symptoms associated with the condition and may include various medications and/or phototherapy.
MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of the MECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome. The size of the duplication varies from 100,000 to 900,000 DNA building blocks (base pairs), also written as 100 to 900 kilobases (kb). The MECP2 gene is always included in this duplication, and other genes may be involved, depending on the size of the duplicated segment. Extra copies of these other genes do not seem to affect the severity of the condition, because people with larger duplications have signs and symptoms that are similar to people with smaller duplications. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. An extra copy of the MECP2 gene leads to the production of excess MeCP2 protein, which is unable to properly regulate the expression of other genes. The misregulation of gene expression in the brain results in abnormal nerve cell (neuronal) function. These neuronal abnormalities cause irregular brain activity, leading to the signs and symptoms of MECP2 duplication syndrome.
More than 800 individuals with PMM2-CDG have been identified worldwide.
What causes isobutyryl-CoA dehydrogenase deficiency (IBD deficiency)? IBD deficiency is caused by mutations in the ACAD8 gene. The ACAD8 gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. If a mutation in the ACAD8 gene reduces or eliminates the activity of this enzyme, the body is unable to break down valine properly. As a result, poor growth and reduced energy production may occur.
Histoplasmosis is a disease caused by a fungus (or mold) called Histoplasma. The fungus is common in the eastern and central United States. It grows in soil and material contaminated with bat or bird droppings. You get infected by breathing the fungal spores. You cannot get the infection from someone else. Histoplasmosis is often mild, with no symptoms. If you do get sick, it usually affects your lungs. Symptoms include feeling ill, fever, chest pains, and a dry cough. In severe cases, histoplasmosis spreads to other organs. This is called disseminated disease. It is more common in infants, young children, seniors, and people with immune system problems. Your doctor might do a variety of tests to make the diagnosis, including a chest x-ray, CT scan of the lungs, or examining blood, urine, or tissues for signs of the fungus. Mild cases usually get better without treatment. Treatment of severe or chronic cases is with antifungal drugs. Centers for Disease Control and Prevention
Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma. Weaver syndrome is usually caused by changes (mutations) in the EZH2 gene. Although the condition is considered autosomal dominant, most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
How might VLCAD deficiency be treated? Management of VLCAD deficiency depends on many factors, including the form of the condition and the specific signs and symptoms present. For example, people affected by the severe forms of the condition are typically placed on a low-fat, high-carbohydrate diet with frequent meals. Supplemental calories may be provided through medium-chain triglycerides (MCT oil). If hospitalization is necessary for acute episodes of hypoglycemia and/or metabolic crisis, intravenous glucose may be administered as an energy source. Periods of rhabdomyolysis may be treated with hydration and alkalization of the urine (decreasing the amount of acid you take in) to protect kidney function and to prevent acute kidney failure. Affected people are generally advised to avoid fasting, dehydration, and a high-fat diet.
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.
- My mother had diabetes when I was born. - I am overweight. - I have a parent, brother, or sister with diabetes. - My family background is American Indian. - I have had gestational diabetes, or I gave birth to at least one baby weighing more than 9 pounds. - My blood pressure is 140/90 mmHg or higher, or I have been told that I have high blood pressure. - My cholesterol levels are higher than normal. My HDL cholesterol"good" cholesterolis below 35 mg/dL, or my triglyceride level is above 250 mg/dL. - I am fairly inactive. I exercise fewer than three times a week.
Mutations in the HEXA gene cause Tay-Sachs disease. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms of Tay-Sachs disease. Because Tay-Sachs disease impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.
Spastic paraplegia type 8 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 inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, which has led to the development of a radioenzymatic test for the DPD enzyme. This test has remained the gold standard for diagnosing DPD deficiency even after the development of genetic testing for the condition, because of the complexity of the DPYD gene and the presence of multiple DNA sequence variations present in most affected individuals. Various types of cells and tissues can be examined this way. More recently, a rapid, noninvasive, and cost-effective breath test was developed. This test permits the evaluation of DPD activity (normal activity and partial or profound deficiency) before the administration of fluoropyrmidine drugs such as 5-FU.
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 4 is caused by mutations in the HES7 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
Palmoplantar keratoderma with deafness can have different inheritance patterns. When this disorder is caused by GJB2 gene mutations, it 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 inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. When palmoplantar keratoderma with deafness is caused by mutations in the MT-TS1 gene, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA (mtDNA). Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.
Surfactant dysfunction can have different inheritance patterns depending on its genetic cause. When caused by mutations in the SFTPB or ABCA3 gene, 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. When caused by mutations in the SFTPC gene, this condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases caused by changes in the SFTPC gene, an affected person inherits the mutation from one affected parent. The remainder result from new mutations in the gene and occur in people with no history of the disorder in their family.
What causes galactosialidosis? Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin binding protein. Elastin binding protein plays a role in the formation of elastic fibers, a component of the connective tissues that form the body's supportive framework. CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely. Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.
The prognosis for the familial periodic paralyses varies. Chronic attacks may result in progressive weakness that persists between attacks. Some cases respond well to treatment, which can prevent or reverse progressive muscle weakness.
These resources address the diagnosis or management of FOXG1 syndrome: - Genetic Testing Registry: Rett syndrome, congenital variant 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 CIPA: - Gene Review: Gene Review: Congenital Insensitivity to Pain with Anhidrosis - Genetic Testing Registry: Hereditary insensitivity to pain with anhidrosis 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
Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal. The vision problems associated with bradyopsia become apparent in early childhood. They are usually stable, which means they do not worsen over time.
Acinetobacter poses very little risk to healthy people. However, people who have weakened immune systems, chronic lung disease, or diabetes may be more susceptible to infections with Acinetobacter. Hospitalized patients, especially very ill patients on a ventilator, those with a prolonged hospital stay, those who have open wounds, or any person with invasive devices like urinary catheters are also at greater risk for Acinetobacter infection. Acinetobacter can be spread to susceptible persons by person-to-person contact or contact with contaminated surfaces.
Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.
Body lice infestation is found worldwide but generally is limited to persons who live under conditions of crowding and poor hygiene who do not have access to regular bathing and changes of clean clothes, such as: - the homeless, - refugees, - survivors of war or natural disasters. Infestations can spread rapidly under such conditions. Body lice infestation can occur in people of all races. Body lice are spread through direct contact with a person who has body lice or through contact with articles such as clothing, beds, bed linens, or towels that have been in contact with an infested person. However, in the United States, actual infestation with body lice tends to be occur only in homeless, transient persons who do not have access to regular bathing and changes of clean clothes. Body lice can transmit disease. Epidemics of typhus and louse-borne relapsing fever have been caused by body lice (typically in areas where climate, poverty, and social customs or war and social upheaval prevent regular changes and laundering of clothing).
Chilaiditi syndrome is a medical condition in which a portion of the colon is abnormally positioned between the liver and the diaphragm. Symptoms vary, but may include abdominal pain, nausea, vomiting, and small bowel obstruction. In many cases, there are no symptoms and the interposition is an incidental finding. When no symptoms are present, the clinical finding is called Chilaiditi's sign.. The underlying cause of Chilaiditi syndrome is unknown. Treatment is symptomatic and supportive.
These resources address the diagnosis or management of Crigler-Najjar syndrome: - Centers for Disease Control and Prevention: Facts About Jaundice and Kernicterus - Genetic Testing Registry: Crigler Najjar syndrome, type 1 - Genetic Testing Registry: Crigler-Najjar syndrome - Genetic Testing Registry: Crigler-Najjar syndrome, type II 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 causes cri du chat syndrome? Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome.
For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Children whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy or seizure-like brain activity. During adolescence, some children with autism may become depressed or experience behavioral problems. Parents of these children should be ready to adjust treatment for their child as needed. People with an ASD usually continue to need services and support as they get older but many are able to work successfully and live independently or within a supportive environment.
NINDS supports and conducts research on movement disorders such as paroxysmal choreoathetosis. Much of this research is aimed at finding ways to prevent and treat these disorders.
The incidence of cerebrotendinous xanthomatosis is estimated to be 3 to 5 per 100,000 people worldwide. This condition is more common in the Moroccan Jewish population with an incidence of 1 in 108 individuals.
Untreated, arachnoid cysts may cause permanent severe neurological damage when progressive expansion of the cyst(s) or bleeding into the cyst injures the brain or spinal cord. Symptoms usually resolve or improve with treatment.
How might a MTHFR gene mutation be treated? High homocysteine levels in the body may occur if the MTHFR enzyme is not functioning normally due to MTHFR mutations, such as C677T and A1298C. Currently there are no treatments to remove adverse risks associated with MTHFR gene mutations. However, elevated levels of homocysteine can also occur if there is a lack of folate or B vitamins. Homocysteine levels also tend to rise with age, smoking, and use of certain drugs (such as carbamazepine, methotrexate, and phenytoin). It is important to ensure that people with and without MTHFR gene mutations receive adequate amounts of naturally occurring folate, choline, and B vitamins (B12, B6, and riboflavin) to mitigate nutritional risks. If adequate nutrition cannot be attained through diet alone, supplementation with folate (e.g., levomefolate (5-methyl THF) or folinic acid) and B vitamins is considered. We recommend that you talk to your doctor to learn if supplementation would benefit you. Smoking cessation and, when possible, avoidance of medications that adversely affect homocystiene level are additional management strategies.
How is multiple pterygium syndrome, Escobar type diagnosed? Multiple pterygium syndrome, Escobar type is diagnosed based on signs and symptoms in the patient. This syndrome should be considered in patients with webs across different body joints, particularly if additional signs and symptoms are present (e.g., subtle facial feature differences). Because skeletal birth defects (especially spine defects), are relatively common in Escobar syndrome radiographs of the complete skeleton may be helpful in diagnosis. Genetic testing for multiple pterygium syndrome, Escobar type is available on a limited basis. This testing can be done using linkage analysis or by sequencing the coding region for the gene.
Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), face (facio-), and the skin and hair (cutaneous). People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three syndromes are part of a group of related conditions called the RASopathies and they are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart in infancy. The CFC syndroeme is caused by mutations in the BRAF (75%-80% of the cases), MAP2K1, MAP2K2 or KRAS gene (in fewer than 5% of the cases). CFC syndrome is an autosomal dominant condition, however, most cases have resulted from new gene mutations and have occurred in people with no history of the disorder in their family. Treatment is symptomatic and may include surgery to correct the heart problems.
These resources address the diagnosis or management of pilomatricoma: - Genetic Testing Registry: Pilomatrixoma 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 Microtia-Anotia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microtia-Anotia. 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) Anotia - Holoprosencephaly - Microtia - 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.
These resources address the diagnosis or management of X-linked adrenal hypoplasia congenita: - Gene Review: Gene Review: X-Linked Adrenal Hypoplasia Congenita - Genetic Testing Registry: Congenital adrenal hypoplasia, X-linked - MedlinePlus Encyclopedia: Adrenal Glands - MedlinePlus Encyclopedia: Hypogonadotropic Hypogonadism 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
Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired sense of light-dark cycles. Non 24 hour sleep wake disorder can also affect sighted people. The cause of the disorder in these cases is incompletely understood, but studies suggest melatonin levels play a role.
Schimke immuno-osseous dysplasia is a very rare condition. The prevalence in North America is estimated to be one in 1 million to 3 million people.
You can't prevent vasculitis. However, treatment can help prevent or delay the complications of vasculitis. People who have severe vasculitis are treated with prescription medicines. Rarely, surgery may be done. People who have mild vasculitis may find relief with over-the-counter pain medicines, such as acetaminophen, aspirin, ibuprofen, or naproxen. For more information about vasculitis treatments, go to "How Is Vasculitis Treated?"
There is no established treatment program for HAM/TSP. Corticosteroids may relieve some symptoms, but arent likely to change the course of the disorder. Clinical studies suggest that interferon alpha provides benefits over short periods and some aspects of disease activity may be improved favorably using interferon beta. Stiff and spastic muscles may be treated with lioresal or tizanidine. Urinary dysfunction may be treated with oxybutynin.
How might Freiberg's disease be treated? The treatment of Freiberg's disease depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. The primary goal of therapy is to rest the joint and reduce pain and swelling. A more conservative treatment approach is typically attempted initially which may include modification of activities with different types of casts, crutches and/or shoe inserts, as needed. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be recommended to manage pain. If other treatments are not effective, surgery may be necessary. Medscape Reference's Web site offers more specific information regarding the different surgical procedures used to treat Freiberg's disease. Please click on the link to access the resource.
This condition affects fewer than 1 in 150,000 males and is very rare in females.
Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys. The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to symptoms such as severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. A striking feature of LNS is self-mutilating behaviors characterized by lip and finger biting that begin in the second year of life. Abnormally high uric acid levels can cause sodium urate crystals to form in the joints, kidneys, central nervous system, and other tissues of the body, leading to gout-like swelling in the joints and severe kidney problems. Neurological symptoms include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntingtons disease. Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.
Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. [1] In one study of 71 patients with ICE syndrome, the mean age at diagnosis was 51-years. Known glaucoma was present in 11 (15%) of cases. [2] While it is not yet known how to keep Cogan-Reese syndrome from progressing, the glaucoma associated with the disease can be treated with medication. Additionally, corneal transplant can treat any corneal swelling. The National Eye Institute provides information on screening for glaucoma HERE.
These resources address the diagnosis or management of intrahepatic cholestasis of pregnancy: - Gene Review: Gene Review: ATP8B1 Deficiency - Genetic Testing Registry: Cholestasis of pregnancy 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
Adermatoglyphia is caused by mutations in the SMARCAD1 gene. This gene provides information for making two versions of the SMARCAD1 protein: a full-length version that is active (expressed) in multiple tissues and a shorter version that is expressed only in the skin. Studies suggest that the full-length SMARCAD1 protein regulates the activity of a wide variety of genes involved in maintaining the stability of cells' genetic information. Little is known about the function of the skin-specific version of the SMARCAD1 protein, but it appears to play a critical role in dermatoglyph formation. Dermatoglyphs develop before birth and remain the same throughout life. The activity of this protein is likely one of several factors that determine each person's unique fingerprint pattern. The SMARCAD1 gene mutations that cause adermatoglyphia affect only the skin-specific version of the SMARCAD1 protein. These mutations reduce the total amount of this protein available in skin cells. Although it is unclear how these genetic changes cause adermatoglyphia, researchers speculate that a shortage of the skin-specific version of the SMARCAD1 protein impairs signaling pathways needed for normal skin development and function, including the formation of dermatoglyphs.
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.
The signs and symptoms of deep vein thrombosis (DVT) might be related to DVT itself or pulmonary embolism (PE). See your doctor right away if you have signs or symptoms of either condition. Both DVT and PE can cause serious, possibly life-threatening problems if not treated. Deep Vein Thrombosis Only about half of the people who have DVT have signs and symptoms. These signs and symptoms occur in the leg affected by the deep vein clot. They include: Swelling of the leg or along a vein in the leg Pain or tenderness in the leg, which you may feel only when standing or walking Increased warmth in the area of the leg that's swollen or painful Red or discolored skin on the leg Pulmonary Embolism Some people aren't aware of a deep vein clot until they have signs and symptoms of PE. Signs and symptoms of PE include: Unexplained shortness of breath Pain with deep breathing Coughing up blood Rapid breathing and a fast heart rate also may be signs of PE.
Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. Many cases are caused by mutations in the FAM83H gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Some cases caused by mutations in the ENAM gene also have an autosomal dominant inheritance pattern. Amelogenesis imperfecta can also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered. 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. About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition. Other cases of amelogenesis imperfecta result from new gene mutations and occur in people with no history of the disorder in their family.
Hospice care is a special way of caring for people who are terminally ill (dying) and helping their families cope. Hospice care includes treatment to relieve symptoms and keep the individual comfortable. The goal is to provide end-of-life care, not to cure the illness. Medical care, nursing care, social services, drugs for the terminal and related conditions, durable medical equipment, and other types of items and services can be a part of hospice care.
What are the signs and symptoms of collagenous colitis? All individuals with collagenous colitis experience chronic, watery, non-bloody diarrhea which is what typically prompts individuals to seek medical attention. Onset of diarrhea may occur gradually over time or may be sudden and abrupt. Episodes of diarrhea may be intermittent and can occur over weeks, months or years. Other signs and symptoms that commonly occur in affected individuals include abdominal pain or cramping; flatulence; bloating; and weight loss. Incontinence, urgency, nausea, vomiting and fatigue have also been reported. Some individuals with collagenous colitis experience spontaneous remission even without treatment; however, relapses can occur.
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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
The four stages of diabetic retinopathy are - mild nonproliferative retinopathy - moderate nonproliferative retinopathy - severe nonproliferative retinopathy - proliferative retinopathy mild nonproliferative retinopathy moderate nonproliferative retinopathy severe nonproliferative retinopathy proliferative retinopathy Nonproliferative retinopathy. At this earliest stage, microaneurysms occur. They are small areas of balloon-like swelling in the retina's tiny blood vessels. Moderate nonproliferative retinopathy. As the disease progresses, some blood vessels that nourish the retina are blocked. Severe nonproliferative retinopathy. Many more blood vessels are blocked, depriving several areas of the retina of their blood supply. These areas of the retina send signals to the body to grow new blood vessels for nourishment. Proliferative retinopathy. At this advanced stage, the signals sent by the retina for nourishment trigger the growth of new blood vessels. These new blood vessels are abnormal and fragile. They grow along the retina and along the surface of the clear, vitreous gel that fills the inside of the eye.