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The thymus is a small organ in your upper chest, under your breastbone. Before birth and during childhood, the thymus helps the body make a type of white blood cell. These cells help protect you from infections. Cancer of the thymus is rare. You are more likely to get it if you have other diseases such as myasthenia gravis, lupus or rheumatoid arthritis. Sometimes there are no symptoms. Other times, thymus cancer can cause - A cough that doesn't go away - Chest pain - Trouble breathing Doctors use a physical exam, imaging tests, and a biopsy to diagnose thymus cancer. The most common treatment is surgery to remove the tumor. Other options include radiation therapy, chemotherapy, and hormone therapy. NIH: National Cancer Institute
Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Kaposi sarcoma cause purplish, reddish blue, or dark brown/black skin lesions (macules, nodules, plaques) on the legs and the face. These lesions may look bad, but they usually cause no symptoms. However, when the lesions are in the lungs, liver, or digestive tract, they may cause serious problems like gastrointestinal bleeding or trouble breathing. Kaposi sarcoma is caused by infection with a virus called the Kaposi sarcoma associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8). Kaposi sarcoma is classified into four types based upon the different populations in which it develops: classic (which presents in middle or old age), endemic (described in sub-Saharan indigenous Africans), iatrogenic (associated with immunosuppressive drug therapy) and AIDS-associated (epidemic KS). Options for treatment may include local therapy, radiation therapy, chemotherapy and biologic therapy (immunotherapy). The main aim is to restore immunity.
McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction). MAS is caused by a change (mutation) in the GNAS gene that occurs by chance very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of MAS and its features depend on the number and location of cells that have the mutated GNAS gene. Because MAS occurs by chance, it is not inherited or passed down from one generation to the next.
Mutations in the PCNT gene cause MOPDII. The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells. Pericentrin acts as an anchoring protein, securing other proteins to the centrosome. Through its interactions with these proteins, pericentrin plays a role in regulation of the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion. PCNT gene mutations lead to the production of a nonfunctional pericentrin protein that cannot anchor other proteins to the centrosome. As a result, centrosomes cannot properly assemble microtubules, leading to disruption of the cell cycle and cell division. Impaired cell division causes a reduction in cell production, while disruption of the cell cycle can lead to cell death. This overall reduction in the number of cells leads to short bones, microcephaly, and the other signs and symptoms of MOPDII.
- Kidney failure means your kidneys no longer filter your blood well enough to keep you healthy. - The treatments for kidney failure are - hemodialysis - peritoneal dialysis - a kidney transplant - conservative management - Hemodialysis uses a machine to filter your blood when your kidneys are too sick to filter any more. - Peritoneal dialysis uses the lining of your belly to filter your blood inside your body. - A kidney transplant places a healthy kidney from another person into your body. - Conservative management means your doctors take care of you without dialysis or a transplant. The doctors may give you medicines that make you feel more comfortable. - All dialysis and transplant centers have a dietitian. The dietitian helps people with kidney failure learn about healthy food choices.
Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The altered gene is typically inherited from an affected parent. Some cases associated with NOTCH1 gene mutations result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. When caused by mutations in the DOCK6 or EOGT gene, Adams-Oliver syndrome is inherited in an autosomal recessive pattern. In conditions with this pattern of inheritance, 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.
What causes Chilaiditi syndrome? The exact cause of Chilaiditi syndrome is unknown. The condition appears to occur with higher frequency among individuals with chronic lung disease, scarring of the liver (cirrhosis), and in those with an accumulation of ascites in the abdomen. Other risk factors may include reduced liver volume, paralysis of the motor nerve to the diaphragm (phrenic nerve palsy), and obesity. In some cases, the condition is present from birth (congenital).
The long-term outlook for a child with kidney dysplasia in only one kidney is generally good. A person with one working kidney, a condition called solitary kidney, can grow normally and may have few, if any, health problems. The affected kidney may shrink as the child grows. By age 10,3 the affected kidney may no longer be visible on x-ray or ultrasound. Children and adults with only one working kidney should have regular checkups to test for high blood pressure and kidney damage. A child with urinary tract problems that lead to failure of the working kidney may eventually need dialysis or a kidney transplant. More information is provided in the NIDDK health topics, solitary kidney, dialysis, and kidney transplants.
What are the signs and symptoms of Transcobalamin 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Transcobalamin 1 deficiency. 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 metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Paresthesia - 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.
Addiction is a chronic disease in which a person craves, seeks, and continues to abuse a legal (medication, alcohol, tobacco) or an illicit (illegal) drug, despite harmful consequences. People who are addicted continue to abuse the substance even though it can harm their physical or mental health, lead to accidents, or put others in danger. For more on drugs and the brain, see Drugs, Brains and Behavior: The Science of Addiction.
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.
How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat.[2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected.[2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticosteroids to control inflammation Intravenous immunoglobulins (IVIG) to stop the disease process Treatment for the eye may include artificial tears, antibiotics, or corticosteroids.[2144]
Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately. Antibiotics for most types of meningitis can greatly reduce the risk of dying from the disease. Antiviral medications may be prescribed for viral encephalitis or other severe viral infections.Anticonvulsants are used to prevent or treat seizures. Corticosteroidd rugs can reduce brain swelling and inflammation. Over-the-counter medications may be used for fever and headache. Individuals with encephalitis or bacterial meningitis are usually hospitalized for treatment. Affected individuals with breathing difficulties may require artificial respiration.
Age-related macular degeneration, also known as AMD, is an eye disease that affects the macula, a part of the retina. The retina sends light from the eye to the brain, and the macula allows you to see fine detail. AMD Blurs Central Vision AMD blurs the sharp central vision you need for straight-ahead activities such as reading, sewing, and driving. AMD causes no pain. How AMD Progresses In some cases, AMD advances so slowly that people notice little change in their vision. In others, the disease progresses faster and may lead to a loss of vision in both eyes. AMD is a common eye condition among people age 50 and older. It is a leading cause of vision loss in older adults. Two Forms of AMD There are two forms of age-related macular degeneration -- dry and wet.
Treatment for multifocal motor neuropathy varies. Some individuals experience only mild, modest symptoms and require no treatment. For others, treatment generally consists of intravenous immunoglobulin (IVIg) or immunosuppressive therapy with cyclophosphamide.
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 NINDS supports and conducts a wide range of studies that focus on identifying and learning more about the factors involved in normal brain development. Recent research has identified specific genes that cause holoprosencephaly. The knowledge gained from these fundamental studies provides the foundation for understanding how to develop new ways to treat, and potentially prevent, this disorder.
Although researchers have studied many treatments, none has been shown to cure or slow the progress of PSC. Treatment of PSC aims to relieve symptoms and manage complications. Medical treatment may include various medications to relieve itching, antibiotics to treat infections, and vitamin supplements. Instruments passed through an endoscope during ERCP can help open blocked bile ducts. Liver transplantation may be an option if the liver begins to fail.
Having psoriasis may cause you to feel self-conscious, particularly if it affects a part of the body that others can see. Some people plan their clothing such as long skirts vs. knee-length or long-sleeve instead of short-sleeve shirts to hide affected skin. Others withdraw from sports and other activities where affected skin would show. Pain, itching, and other symptoms can lead to frustration. Uncertainty over the course of the disease or the need for ongoing treatment may cause you to feel anxious or depressed. In some cases psoriasis symptoms make it difficult or impossible for people keep up with their jobs, household chores, or favorite activities. Having to give up a job or favorite hobby can further increase the risk of emotional problems.
Botulism is a rare but serious paralytic illness caused by a nerve toxin that is produced by the bacterium Clostridium botulinum and sometimes by strains of Clostridium butyricum and Clostridium baratii. There are five main kinds of botulism. Foodborne botulism is caused by eating foods that contain the botulinum toxin. Wound botulism is caused by toxin produced from a wound infected with Clostridium botulinum. Infant botulism is caused by consuming the spores of the botulinum bacteria, which then grow in the intestines and release toxin. Adult intestinal toxemia (adult intestinal colonization) botulism is a very rare kind of botulism that occurs among adults by the same route as infant botulism. Lastly, iatrogenic botulism can occur from accidental overdose of botulinum toxin. All forms of botulism can be fatal and are considered medical emergencies. Foodborne botulism is a public health emergency because many people can be poisoned by eating a contaminated food.
What causes MYH7-related scapuloperoneal myopathy? MYH7-related scapuloperoneal myopathy is caused by mutations in the MYH7 gene. This gene, located on chromosome 14q12, provides instructions for making a protein known as the cardiac beta ()-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers.
About 75 percent of people will have hemorrhoids at some point in their lives.1 Hemorrhoids are most common among adults ages 45 to 65.2 Hemorrhoids are also common in pregnant women.
These resources address the diagnosis or management of Char syndrome: - Gene Review: Gene Review: Char Syndrome - Genetic Testing Registry: Char syndrome - MedlinePlus Encyclopedia: Patent Ductus Arteriosus 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
Pearson marrow-pancreas syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. Pearson marrow-pancreas syndrome is caused by single, large deletions of mtDNA, which can range from 1,000 to 10,000 DNA building blocks (nucleotides). The most common deletion, which occurs in about 20 percent of affected individuals, removes 4,997 nucleotides. The mtDNA deletions involved in Pearson marrow-pancreas syndrome result in the loss of genes that provide instructions for proteins involved in oxidative phosphorylation. These deletions impair oxidative phosphorylation and decrease the energy available to cells. It is not clear how loss of mtDNA leads to the specific signs and symptoms of Pearson marrow-pancreas syndrome, although the features of the condition are likely related to a lack of cellular energy.
Penicillin, an antibiotic, is used to treat syphilis. Individuals with neurosyphilis can be treated with penicillin given by vein, or by daily intramuscular injections for 10 14 days. If they are treated with daily penicillin injections, individuals must also take probenecid by mouth four times a day. Some medical professionals recommend another antibiotic called ceftriaxone for neurosyphilis treatment. This drug is usually given daily by vein, but it can also be given by intramuscular injection. Individuals who receive ceftriaxone are also treated for 10 - 14 days. People with HIV/AIDS who get treated for neurosyphilis may have different outcomes than individuals without HIV/AIDS.
Signs and symptoms of small cell lung cancer include coughing, shortness of breath, and chest pain. These and other signs and symptoms may be caused by small cell lung cancer or by other conditions. Check with your doctor if you have any of the following: - Chest discomfort or pain. - A cough that doesnt go away or gets worse over time. - Trouble breathing. - Wheezing. - Blood in sputum (mucus coughed up from the lungs). - Hoarseness. - Trouble swallowing. - Loss of appetite. - Weight loss for no known reason. - Feeling very tired. - Swelling in the face and/or veins in the neck.
How is HEM diagnosed? Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM.
Immune thrombocytopenia (ITP) is a fairly common blood disorder. Both children and adults can develop ITP. Children usually have the acute (short-term) type of ITP. Acute ITP often develops after a viral infection. Adults tend to have the chronic (long-lasting) type of ITP. Women are two to three times more likely than men to develop chronic ITP. The number of cases of ITP is rising because routine blood tests that can detect a low platelet count are being done more often. ITP can't be passed from one person to another.
The NINDS supports research on neuromuscular disorders such as KSS. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them. The most promising approach for treatment in the future will be to alter replication or destroy abnormal mitochondria.
These resources address the diagnosis or management of Kallmann syndrome: - Gene Review: Gene Review: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency - Genetic Testing Registry: Hypogonadism with anosmia - Genetic Testing Registry: Kallmann syndrome 1 - Genetic Testing Registry: Kallmann syndrome 2 - Genetic Testing Registry: Kallmann syndrome 3 - Genetic Testing Registry: Kallmann syndrome 4 - MedlinePlus Encyclopedia: Hypogonadotropic Hypogonadism - MedlinePlus Encyclopedia: Smell - Impaired 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 GRN-related frontotemporal dementia: - Family Caregiver Alliance - Gene Review: Gene Review: GRN-Related Frontotemporal Dementia - Genetic Testing Registry: Frontotemporal dementia, ubiquitin-positive 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
MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 affected individuals have been mentioned in the medical literature.
Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms.
This condition is very rare; it probably affects 200 to 300 people worldwide. Reported estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people.
How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. Therefore, there are 4 alleles that produce alpha-globin, the protein that results from these genes. For each of the 2 genes, one allele is inherited from a person's father, and the other is inherited from a person's mother - so each person inherits 2 alleles from each parent. The different types of alpha-thalassemia result from the loss of some or all of these alleles. If both parents are missing at least one alpha-globin allele, each of their children are at risk of having Hb Bart syndrome or hydrops fetalis, hemoglobin H (HbH) disease, or alpha-thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected. In most cases: a person with 1 mutated allele is a carrier and has no signs or symptoms a person with 2 mutated alleles may have mild signs or symptoms of alpha-thalassemia (called alpha-thalassemia minor, or alpha-thalassemia trait) a person with 3 mutated alleles has moderate to severe symptoms (called HbH disease) When there are 4 mutated alleles, the condition is called alpha-thalassemia major or hydrops fetalis. In these cases, an affected fetus usually does not survive to birth, or an affected newborn does not survive long after birth.
HAM/TSP is a progressive disease, but it is rarely fatal. Most individuals live for several decades after the diagnosis. Their prognosis improves if they take steps to prevent urinary tract infection and skin sores, and if they participate in physical and occupational therapy programs.
How is Camurati-Engelmann disease inherited? Camurati-Engelmann disease 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.
Researchers do not know how to prevent Peyronies disease.
These resources address the diagnosis or management of white sponge nevus: - Genetic Testing Registry: White sponge nevus of cannon 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
Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to 2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by gastroschisis, although researchers have observed that this malformation is becoming more common. Abdominal wall defects are more common among pregnancies that do not survive to term (miscarriages and stillbirths).
2,4-Dienoyl-CoA reductase deficiency is associated with hypotonia and respiratory acidosis in infancy. This condition may be associated with the DECR1 gene and likely has an autosomal recessive pattern of inheritance.
What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndrome. The allergic reaction to the drug may not occur until 7-14 days after first using it. Stevens-Johnson syndrome can also be preceded by a viral infection, such as herpes or the mumps. In rare cases, Stevens-Johnson syndrome may be caused by an illness or bone marrow transplantation.
This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886.
Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). The skin defects generally improve over time and leave variable degrees of scarring. The signs and symptoms of microphthalmia with linear skin defects syndrome vary widely, even among affected individuals within the same family. In addition to the characteristic eye problems and skin markings, this condition can cause abnormalities in the brain, heart, and genitourinary system. A hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia, may occur in people with this disorder. Affected individuals may also have short stature and fingernails and toenails that do not grow normally (nail dystrophy).
COPD (chronic obstructive pulmonary disease) makes it hard for you to breathe. The two main types are chronic bronchitis and emphysema. The main cause of COPD is long-term exposure to substances that irritate and damage the lungs. This is usually cigarette smoke. Air pollution, chemical fumes, or dust can also cause it. At first, COPD may cause no symptoms or only mild symptoms. As the disease gets worse, symptoms usually become more severe. They include - A cough that produces a lot of mucus - Shortness of breath, especially with physical activity - Wheezing - Chest tightness Doctors use lung function tests, imaging tests, and blood tests to diagnose COPD. There is no cure. Treatments may relieve symptoms. They include medicines, oxygen therapy, surgery, or a lung transplant. Quitting smoking is the most important step you can take to treat COPD. NIH: National Heart, Lung, and Blood Institute
What are the signs and symptoms of Nystagmus 3, congenital, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Nystagmus 3, congenital, autosomal dominant. 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 - Horizontal jerk nystagmus - 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.
When hereditary pancreatitis is caused by mutations in the PRSS1 gene, 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 some cases, an affected person inherits the PRSS1 gene 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. It is estimated that 20 percent of people who have the altered PRSS1 gene never have an episode of pancreatitis. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene never develop signs and symptoms of the disease.
Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder. People with NOMID have a skin rash that is usually present from birth. The rash persists throughout life, although it changes in size and location. Affected individuals often have headaches, seizures, and vomiting resulting from chronic meningitis, which is inflammation of the tissue that covers and protects the brain and spinal cord (meninges). Intellectual disability may occur in some people with this disorder. Hearing and vision problems may result from nerve damage and inflammation in various tissues of the eyes. People with NOMID experience joint inflammation, swelling, and cartilage overgrowth, causing characteristic prominent knees and other skeletal abnormalities that worsen over time. Joint deformities called contractures may restrict the movement of certain joints. Other features of this disorder include short stature with shortening of the lower legs and forearms, and characteristic facial features such as a prominent forehead and protruding eyes. Abnormal deposits of a protein called amyloid (amyloidosis) may cause progressive kidney damage.
The Centers for Disease Control and Prevention (CDC) monitors the frequency of Y. enterocolitica infections through the foodborne disease active surveillance network (FoodNet). In addition, CDC conducts investigations of outbreaks of yersiniosis to control them and to learn more about how to prevent these infections. CDC has collaborated in an educational campaign to increase public awareness about prevention of Y. enterocolitica infections. The U.S. Food and Drug Administration inspects imported foods and milk pasteurization plants and promotes better food preparation techniques in restaurants and food processing plants. The U.S. Department of Agriculture monitors the health of food animals and is responsible for the quality of slaughtered and processed meat. The U.S. Environmental Protection Agency regulates and monitors the safety of our drinking water supplies.
These resources address the diagnosis or management of Shprintzen-Goldberg syndrome: - Gene Review: Gene Review: Shprintzen-Goldberg Syndrome - Genetic Testing Registry: Shprintzen-Goldberg syndrome - Johns Hopkins Medicine: Diagnosis of Craniosynostosis - MedlinePlus Encyclopedia: Craniosynostosis 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 Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar dominant. 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) Anterior polar cataract - Autosomal dominant 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.
Early and accurate diagnosis is key to prolonged survival for boys born with Barth syndrome. The disorder was once considered uniformly fatal in infancy, but some individuals are now living much longer. Severe infections and cardiac failure are common causes of death in affected children.
Shingles (herpes zoster) is an outbreak of rash or blisters on the skin that is caused by the same virus that causes chickenpox the varicella-zoster virus. The first sign of shingles is often burning or tingling pain (which can be severe), or sometimes numbness or itch,generally on one side of the body. After several days or a week, a rash of fluid-filled blisters, similar to chickenpox, appears in one area on one side of the body. Shingles pain can be mild or intense. Some people have mostly itching; some feel pain from the gentlest touch or breeze. The most common location for shingles is a band, called a dermatome, spanning one side of the trunk around the waistline. Anyone who has had chickenpox is at risk for shingles. Scientists think that some of the virus particles from the original exposure to the varicella-zoster virus,leave the skin blisters and move into the nervous system. When the varicella-zoster virus reactivates, the virus moves back down the long nerve fibers that extend from the sensory cell bodies to the skin. The viruses multiply, the tell-tale rash erupts, and the person now has shingles.
Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. Symptoms vary in type and intensity. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Muscles that control eye and eyelid movements, facial expression, chewing, talking, and swallowing are often, but not always, involved. The muscles that control breathing and neck and limb movements may also be affected. Myasthenia gravis is caused by a defect in the transmission of nerve impulses to muscles. Normally when impulses travel down the nerve, the nerve endings release a neurotransmitter substance called acetylcholine. In myasthenia gravis, antibodies produced by the body's own immune system block, alter, or destroy the receptors for acetylcholine. The first noticeable symptoms of myasthenia gravis may be weakness of the eye muscles, difficulty in swallowing, or slurred speech. Myasthenia gravis is an autoimmune disease because the immune system--which normally protects the body from foreign organisms--mistakenly attacks itself.. It is not directly inherited nor is it contagious.
Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age. All four major types of epidermolysis bullosa simplex, including the genralized type, are caused by mutations in the KRT5 and KRT14 genes. This condition is usually inherited in an autosomal dominant fashion.
These resources address the diagnosis or management of amyotrophic lateral sclerosis: - Gene Review: Gene Review: ALS2-Related Disorders - Gene Review: Gene Review: Amyotrophic Lateral Sclerosis Overview - Gene Review: Gene Review: C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia - Gene Review: Gene Review: TARDBP-Related Amyotrophic Lateral Sclerosis - Genetic Testing Registry: Amyotrophic lateral sclerosis - Genetic Testing Registry: Amyotrophic lateral sclerosis type 1 - Massachusetts General Hospital: How is ALS Diagnosed? - MedlinePlus Encyclopedia: Amyotrophic Lateral Sclerosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How might lupus be treated? For information on the treatment of lupus, you can read the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) publication called Handout on Health: Systemic Lupus Erythematosus. NIAMS is the primary NIH organization for research and information on lupus.
Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other. Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenital spinal stenosis, craniosynostosis, and nail patella syndrome. Symptoms of BOS may begin at any age, but most often present before age 20. BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS. BOS is inherited in an autosomal dominant fashion. Affected members of the same family can have very different symptoms.
What are the signs and symptoms of Congenital bilateral absence of the vas deferens? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital bilateral absence of the vas deferens. 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 - Azoospermia - Heterogeneous - 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.
Eosinophils are a type of white blood cell. They help fight off infections and play a role in your body's immune response. They can also build up and cause inflammation. Normally your blood doesn't have a large number of eosinophils. Your body may produce more of them in response to - Allergic disorders - Skin conditions - Parasitic and fungal infections - Autoimmune diseases - Some cancers - Bone marrow disorders In some conditions, the eosinophils can move outside the bloodstream and build up in organs and tissues. Treatment of the problem depends on the cause.
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.
How are chronic hiccups diagnosed? A diagnosis of chronic hiccups is usually obvious based on symptoms. However, a complete physical exam with various laboratory tests and imaging studies (i.e. chest X-ray, CT scan, MRI scan, and/or fluoroscopy of the diaphragm) may be performed to determine the underlying cause. For more information about the workup and diagnosis of chronic hiccups, please click here.
Susceptibility to familial cylindromatosis has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
How might fatal familial insomnia be treated? There is currently no cure for fatal familial insomnia or treatment that can slow the disease progression. Management is based on alleviating symptoms and making affected people as comfortable as possible. A number of potential therapies are under current development, some of which have shown promising results in animal studies.
46,XX testicular disorder of sex development is a condition in which a person with two X chromosomes (which is normally found in females) has a male appearance. More specifically, people with this condition have male external genitalia, ranging from normal to ambiguous. Other common signs and symptoms include small testes, gynecomastia, infertility due to azoospermia (lack of sperm), and health problems related to low testosterone. Less often, affected people may experience abnormalities such as undescended testes and hypospadias. Gender role and gender identity are normally reported as male. This condition may occur if the SRY gene (which is usually found on the Y chromosome) is misplaced onto the X chromosome. This generally occurs to do an abnormal exchange of genetic material between chromosomes (a translocation). Less commonly, the condition may be due to copy number variants or rearrangements in or around the SOX9 or SOX3 gene. In some affected people, the underlying cause is unknown. In most cases, the condition occurs sporadically in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person and generally includes testosterone replacement therapy.
What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene. Eighty percent of individuals affected with PXE are found to have mutations in the ABCC6 gene by the genetic testing currently available. Once the ABCC6 mutations that cause PXE in a family are identified, unaffected relatives may be tested for the familial mutations to determine whether or not they are carriers.
Patulous eustachian tube is a benign condition in which the eustachian tube stays open most of the time. The eustachian tube is the tube that runs between the middle ear and throat and regulates the ear pressure around the ear drum. Under normal circumstances, it remains closed most of the time, opening only on occasion to equalize air pressure between the middle ear and the exterior environment. Major symptoms include distorted autophony (hearing one's own voice or breathing), echoing which may interfere with speech production, wave-like sounds, and a sensation of fullness in the ear. In severe cases, vertigo and hearing loss may occur. Over time, individuals with patulous eustachian tube may develop serious and even extreme responses to the abnormal sounds and other findings. In most cases, the cause of patulous eustachian tube is unknown. Weight loss and pregnancy may be predisposing factors. Neurologic disorders that cause muscle atrophy such as stroke, multiple sclerosis, and motor neuron disease have been implicated in some cases of patulous eustachian tube. Other cases may be associated with medications such as oral contraceptives or diuretics. Other predisposing factors include fatigue, stress, anxiety, exercise, and temporomandibular joint syndrome.
Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and abdomen. Symptoms may vary, but often include an urgent or frequent need to urinate. Many of the individuals affected by IC are women. Because IC varies so much in symptoms and severity, most researchers believe it is not one, but several diseases. In recent years, scientists have started to use the terms bladder pain syndrome (BPS) or painful bladder syndrome (PBS) to describe cases with painful urinary symptoms that may not meet the strictest definition of IC. While there is no cure for IC/PBS, in many cases, the symptoms can be managed. Treatments include dietary and lifestyle changes; distending, or inflating, the bladder; bathing the inside of the bladder with a medicine solution; oral medicines and in rare cases, surgery.
Summary : An ostomy is surgery to create an opening (stoma) from an area inside the body to the outside. It treats certain diseases of the digestive or urinary systems. It can be permanent, when an organ must be removed. It can be temporary, when the organ needs time to heal. The organ could be the small intestine, colon, rectum, or bladder. With an ostomy, there must be a new way for wastes to leave the body. There are many different types of ostomy. Some examples are - Ileostomy - the bottom of the small intestine (ileum) is attached to the stoma. This bypasses the colon, rectum and anus. - Colostomy - the colon is attached to the stoma. This bypasses the rectum and the anus. - Urostomy - the tubes that carry urine to the bladder are attached to the stoma. This bypasses the bladder. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the extent of neurological disabilities.
What are the signs and symptoms of Hepatic lipase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatic lipase deficiency. 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) Angina pectoris - Autosomal recessive inheritance - Eruptive xanthomas - 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 and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to locate and understand the actions of the genes involved in this disorder. Finding these genes could lead to effective ways to treat and prevent Fahr's Syndrome.
Summary : A lung transplant removes a person's diseased lung and replaces it with a healthy one. The healthy lung comes from a donor who has died. Some people get one lung during a transplant. Other people get two. Lung transplants are used for people who are likely to die from lung disease within 1 to 2 years. Their conditions are so severe that other treatments, such as medicines or breathing devices, no longer work. Lung transplants most often are used to treat people who have severe - COPD - Cystic fibrosis - Idiopathic pulmonary fibrosis - Alpha-1 antitrypsin deficiency - Pulmonary hypertension Complications of lung transplantation include rejection of the transplanted lung and infection. NIH: National Heart, Lung, and Blood Institute
Signs of intraocular melanoma include blurred vision or a dark spot on the iris. Intraocular melanoma may not cause early signs or symptoms. It is sometimes found during a regular eye exam when the doctor dilates the pupil and looks into the eye. Signs and symptoms may be caused by intraocular melanoma or by other conditions. Check with your doctor if you have any of the following: - Blurred vision or other change in vision. - Floaters (spots that drift in your field of vision) or flashes of light. - A dark spot on the iris. - A change in the size or shape of the pupil. - A change in the position of the eyeball in the eye socket.
These resources address the diagnosis or management of SOX2 anophthalmia syndrome: - Gene Review: Gene Review: SOX2-Related Eye Disorders - Genetic Testing Registry: Microphthalmia syndromic 3 - MedlinePlus Encyclopedia: Vision Problems 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
Shingles is caused by a virus called the varicella-zoster virus -- the one that gave you chickenpox when you were a child. As you recovered from chickenpox, the sores and other symptoms healed, but the virus remained. It is with you for life. Researchers know that the varicella-zoster virus behaves differently from other viruses, such as the flu virus. Our immune system usually kills off invading germs, but it cannot completely knock out this type of virus. The virus just becomes inactive. The virus can become active again, especially in the later years of your life when your immune system doesn't protect you as well from infections. The virus travels from the spinal nerve cells and follows a nerve path out to the skin. Nerve endings in the skin become inflamed and erupt in a very painful rash. Healthcare providers cannot always be sure what the trigger is in each case. They don't know why the virus reactivates in one person with these risk factors, while in another person with the same risk factors, it does not.
Is Binswanger's disease an inherited condition? Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots).
Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids. The disease is also called alpha-galactosidase-A deficiency. A mutation in the gene that controls this enzyme causes insufficient breakdown of lipids, which build up to harmful levels in the autonomic nervous system (which controls involuntary functions such as breathing and digestion), cardiovascular system, eyes, and kidneys. Symptoms usually begin during childhood or adolescence and include burning sensations in the arms and legs that gets worse with exercise and hot weather and small, non-cancerous, raised reddish-purple blemishes on the skin. Excess material buildup can lead to clouding in the corneas. Lipid storage may lead to impaired blood circulation and increased risk of heart attack or stroke. The heart may also become enlarged and the kidneys may become progressively impaired, leading to renal failure. Other signs include decreased sweating, fever, and gastrointestinal difficulties.Fabry disease is the only X-linked lipid storage disease (where the mother carries the affected gene on the X chromosome that determines the child's gender and passes it to her son). Boys have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier. A milder form is common in females, and occasionally some affected females may have severe symptoms similar to males with the disorder.
How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. Medications are often prescribed to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to hydromyelia in its clinics and laboratories at The National Institutes of Health (NIH) and supports 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 abnormalities of the spinal cord such as hydromyelia.
Summary : Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs, and supplements. Always speak with your health care provider before you start or stop any medicine. Not using medicine that you need may be more harmful to you and your baby than using the medicine. For example, many pregnant women take prescription medicines for health problems like diabetes, asthma, seizures, and heartburn. The decision about whether or not to take a medicine depends on the risks and benefits. You and your health care provider should make this choice together. Pregnant women should not take regular vitamins. They may have too much or too little of the vitamins that you need. There are special vitamins for pregnant women. It is important to take 0.4 mg of folic acid every day before you become pregnant through the first part of your pregnancy. Folic acid helps to prevent birth defects of the baby's brain or spine. Food and Drug Administration
Ring chromosome 20 syndrome is almost never inherited. A ring chromosome typically occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Often, the ring chromosome is present in only some of a person's cells. This situation is known as mosaicism. Most affected individuals have no history of the disorder in their families. However, at least one family has been reported in which a ring chromosome 20 was passed from a mother to her children.
How is Best vitelliform macular dystrophy diagnosed? Best vitelliform macular dystrophy (BVMD) may be diagnosed based on the findings on an exam of the fundus (the interior surface of the eye opposite the lens); an electrooculogram (EOG); and the family history. An eye exam may include other tests as well. A fundus exam may show a typical yellow yolk-like macular lesion. An EOG is usually abnormal in affected people, but occasionally, people with signs of BVMD and a mutation in the BEST1 gene have a normal EOG. The family history in affected people is often consistent with either autosomal dominant or autosomal recessive inheritance. Genetic testing may also be used to make a diagnosis of BVMD. A BEST1 mutation is detected in about 96% of affected people who have an affected family member. In people with no family history of BVMD, the mutation detection rate ranges between 50-70%. The exact type of genetic test ordered to confirm a diagnosis may depend on a person's ancestry, family history, and/or whether other eye disorders are also being considered.
If you are having a heart attack, doctors will work quickly to restore blood flow to the heart and continuously monitor vital signs to detect and treat complications. Restoring blood flow to the heart can prevent or limit damage to the heart muscle and help prevent another heart attack. Doctors may use clot-busting drugs called thrombolytics and procedures, such as angioplasty. Long-term treatment after a heart attack may include cardiac rehabilitation, checkups and tests, lifestyle changes, and medications.
What are the signs and symptoms of Lymphocytic infiltrate of Jessner? The Human Phenotype Ontology provides the following list of signs and symptoms for Lymphocytic infiltrate of Jessner. 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 lymphocytes 50% Cutaneous photosensitivity 50% Pruritus 50% 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.
What are the signs and symptoms of Radio-ulnar synostosis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 2. 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 - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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.
Monkeypox is a rare viral disease. It occurs mostly in central and western Africa. Wild rodents and squirrels carry it, but it is called monkeypox because scientists saw it first in lab monkeys. In 2003, it was reported in prairie dogs and humans in the U.S. Centers for Disease Control and Prevention
How might Stenotrophomonas maltophilia infection be treated? Stenotrophomonas maltophilia (S. maltophilia) bacteria are usually resistant to many antibiotics. The recommended therapy is trimethoprim-sulfamethoxazole (also called co-trimoxazole, or TMP-SMX). If this medication can not be used, a variety of other antibiotics may be considered. Combination therapy may be necessary in life-threatening cases. The duration of therapy largely depends on the site of infection. More detailed information about medications used to treat S. maltophilia infection is available in Medscape Reference and can be viewed by clicking here. This information is intended for informational purposes only. People seeking treatment for S. maltophilia infection should consult with their health care provider.
These resources address the diagnosis or management of alkaptonuria: - Gene Review: Gene Review: Alkaptonuria - Genetic Testing Registry: Alkaptonuria - MedlinePlus Encyclopedia: Alkaptonuria 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
Familial HDL deficiency is a rare disorder, although the prevalence is unknown.
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.
In women, high levels of prolactin in the blood often cause infertility and changes in menstruation. In some women, periods may stop. In others, periods may become irregular or menstrual flow may change. Women who are not pregnant or nursing may begin producing breast milk. Some women may experience a loss of libido-interest in sex. Intercourse may become painful because of vaginal dryness. In men, the most common symptom of prolactinoma is erectile dysfunction. Because men have no reliable indicator such as changes in menstruation to signal a problem, many men delay going to the doctor until they have headaches or eye problems caused by the enlarged pituitary pressing against nearby optic nerves. They may not recognize a gradual loss of sexual function or libido. Only after treatment do some men realize they had a problem with sexual function.
These resources address the diagnosis or management of intranuclear rod myopathy: - Genetic Testing Registry: Nemaline myopathy 3 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 causes of benign essential blepharospasm are unknown, although the disorder likely results from a combination of genetic and environmental factors. Certain genetic changes probably increase the likelihood of developing this condition, and environmental factors may trigger the signs and symptoms in people who are at risk. Studies suggest that this condition may be related to other forms of adult-onset dystonia, including uncontrolled twisting of the neck muscles (spasmodic torticollis) and spasms of the hand and finger muscles (writer's cramp). Researchers suspect that benign essential blepharospasm and similar forms of dystonia are associated with malfunction of the basal ganglia, which are structures deep within the brain that help start and control movement. Although genetic factors are almost certainly involved in benign essential blepharospasm, no genes have been clearly associated with the condition. Several studies have looked at the relationship between common variations (polymorphisms) in the DRD5 and TOR1A genes and the risk of developing benign essential blepharospasm. These studies have had conflicting results, with some showing an association and others finding no connection. Researchers are working to determine which genetic factors are related to this disorder.
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
Pseudopseudohypoparathyroidism (PPHP) is an inherited condition that causes short stature, round face, and short hand bones. PPHP causes joints and other soft tissues in the body to harden. It also affects how bones are formed. As a result, PPHP can cause bone, joint, and nerve damage, and this damage can cause lasting pain. Some people with PPHP (10%) also have learning disability. PHPP is caused by mutations in the GNAS gene and is inherited in an autosomal dominant fashion. This condition is usually inherited from the father (genomic imprinting). PPHP is genetically related to pseudohypoparathyroidism type Ia (PHP-1a). Signs and symptoms are similar, however people with PPHP do not show resistance to parathyroid hormone while people with PHP-1a do. Obesity is characteristic for PHP-1a and may be severe, while obesity is less prominent and may be absent among people with PPHP. Both PHP-1a and PPHP are caused by mutations that affect the function of the GNAS gene. But people who inherit the mutation from their mother develop PHP-1a; whereas those who inherit the mutation from their father develop PPHP.
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen. Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.
Autosomal recessive Robinow syndrome results from mutations in the ROR2 gene. This gene provides instructions for making a protein whose function is not well understood, although it is involved in chemical signaling pathways that are essential for normal development before birth. In particular, the ROR2 protein appears to play a critical role in the formation of the skeleton, heart, and genitals. Mutations in the ROR2 gene prevent cells from making any functional ROR2 protein, which disrupts development starting before birth and leads to the characteristic features of Robinow syndrome. Autosomal dominant Robinow syndrome can be caused by mutations in the WNT5A or DVL1 gene, with the osteosclerotic form of the condition resulting from DVL1 gene mutations. The proteins produced from these genes appear to be part of the same chemical signaling pathways as the ROR2 protein. Mutations in either of these genes alter the production or function of their respective proteins, which impairs chemical signaling that is important for early development. Some people with the characteristic signs and symptoms of Robinow syndrome do not have an identified mutation in the ROR2, WNT5A, or DVL1 gene. In these cases, the cause of the condition is unknown.
When Wolfram syndrome is caused by mutations in the WFS1 gene, it 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. Some studies have shown that people who carry one copy of a WFS1 gene mutation are at increased risk of developing individual features of Wolfram syndrome or related features, such as type 2 diabetes, hearing loss, or psychiatric illness. However, other studies have found no increased risk in these individuals. Wolfram syndrome caused by mutations in the CISD2 gene is also inherited in an autosomal recessive pattern.