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information | What is (are) 2-hydroxyglutaric aciduria ? | 2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I. L-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood. Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood. |
information | What is (are) Skin Infections ? | Your skin helps protect you from germs, but sometimes it can get infected by them. Some common types of skin infections are - Bacterial: Cellulitis and impetigo. Staphylococcal infections can also affect the skin. - Viral: Shingles, warts, and herpes simplex - Fungal: Athlete's foot and yeast infections - Parasitic: Body lice, head lice, and scabies Treatment of skin infections depends on the cause. |
exams and tests | How to diagnose Antisynthetase syndrome ? | How is antisynthetase syndrome diagnosed? A diagnosis of antisynthetase syndrome is often suspected based on the presence of characteristic signs and symptoms once other conditions that cause similar features have been ruled out. Additional testing can then be ordered to confirm the diagnosis, determine the severity of the condition, and inform treatment. This testing varies based on the signs and symptoms present in each person, but may include: Blood tests to evaluate levels of muscle enzymes such as creatine kinase and aldolase Laboratory tests to look for the presence of autoantibodies associated with antisynthetase syndrome High resolution computed tomography (HRCT) of the lungs Electromyography (EMG) Muscle biopsy Pulmonary function testing Magnetic resonance imaging (MRI) of affected muscles Evaluation of swallowing difficulties and aspiration risk Lung biopsy |
prevention | How to prevent Peripheral Artery Disease ? | Taking action to control your risk factors can help prevent or delay peripheral artery disease (P.A.D.) and its complications. Know your family history of health problems related to P.A.D. If you or someone in your family has the disease, be sure to tell your doctor. Controlling risk factors includes the following.
Be physically active.
Be screened for P.A.D. A simple office test, called an ankle-brachial index or ABI, can help determine whether you have P.A.D.
Follow heart-healthy eating.
If you smoke, quit. Talk with your doctor about programs and products that can help you quitsmoking.
If youre overweight or obese, work with your doctor to create a reasonable weight-loss plan.
The lifestyle changes described above can reduce your risk of developing P.A.D. These changes also can help prevent and control conditions that can be associated with P.A.D., such as coronary heart disease, diabetes, high blood pressure, high blood cholesterol, andstroke. |
information | What is (are) Paget disease of bone ? | Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life. |
frequency | How many people are affected by Lesch-Nyhan syndrome ? | The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 individuals. This condition occurs with a similar frequency in all populations. |
information | What is (are) allergic asthma ? | Asthma is a breathing disorder characterized by inflammation of the airways and recurrent episodes of breathing difficulty. These episodes, sometimes referred to as asthma attacks, are triggered by irritation of the inflamed airways. In allergic asthma, the attacks occur when substances known as allergens are inhaled, causing an allergic reaction. Allergens are harmless substances that the body's immune system mistakenly reacts to as though they are harmful. Common allergens include pollen, dust, animal dander, and mold. The immune response leads to the symptoms of asthma. Allergic asthma is the most common form of the disorder. A hallmark of asthma is bronchial hyperresponsiveness, which means the airways are especially sensitive to irritants and respond excessively. Because of this hyperresponsiveness, attacks can be triggered by irritants other than allergens, such as physical activity, respiratory infections, or exposure to tobacco smoke, in people with allergic asthma. An asthma attack is characterized by tightening of the muscles around the airways (bronchoconstriction), which narrows the airway and makes breathing difficult. Additionally, the immune reaction can lead to swelling of the airways and overproduction of mucus. During an attack, an affected individual can experience chest tightness, wheezing, shortness of breath, and coughing. Over time, the muscles around the airways can become enlarged (hypertrophied), further narrowing the airways. Some people with allergic asthma have another allergic disorder, such as hay fever (allergic rhinitis) or food allergies. Asthma is sometimes part of a series of allergic disorders, referred to as the atopic march. Development of these conditions typically follows a pattern, beginning with eczema (atopic dermatitis), followed by food allergies, then hay fever, and finally asthma. However, not all individuals with asthma have progressed through the atopic march, and not all individuals with one allergic disease will develop others. |
information | What is (are) Pars planitis ? | Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop. Pars planitis most often affects young men and is generally not associated with any other disease or symptoms (idiopathic); however, it can be associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Treatment typically includes corticosteroid drugs, immunosuppressive medications, and/or surgery. |
treatment | What are the treatments for High Blood Pressure ? | In most cases, the goal is probably to keep your blood pressure below 140/90 mmHg (130/80 if you have diabetes or chronic kidney disease). Normal blood pressure is less than 120/80. Ask your doctor what your blood pressure goal should be. If you have high blood pressure, you will need to treat it and control it for life. This means making lifestyle changes, and, in some cases, taking prescribed medicines, and getting ongoing medical care. |
information | What is (are) Gray platelet syndrome ? | Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner. |
genetic changes | What are the genetic changes related to ataxia-telangiectasia ? | Mutations in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune system. The ATM protein assists cells in recognizing damaged or broken DNA strands and coordinates DNA repair by activating enzymes that fix the broken strands. Efficient repair of damaged DNA strands helps maintain the stability of the cell's genetic information. Mutations in the ATM gene reduce or eliminate the function of the ATM protein. Without this protein, cells become unstable and die. Cells in the part of the brain involved in coordinating movements (the cerebellum) are particularly affected by loss of the ATM protein. The loss of these brain cells causes some of the movement problems characteristic of ataxia-telangiectasia. Mutations in the ATM gene also prevent cells from responding correctly to DNA damage, which allows breaks in DNA strands to accumulate and can lead to the formation of cancerous tumors. |
outlook | What is the outlook for Endometrial Cancer ? | Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it is in the endometrium only, involves the uterus wall, or has spread to other places in the body). - How the cancer cells look under a microscope. - Whether the cancer cells are affected by progesterone. Endometrial cancer can usually be cured because it is usually diagnosed early. |
causes | What causes Autoimmune hemolytic anemia ? | What causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a person has a blood and marrow stem cell transplant. Secondary causes of autoimmune hemolytic anemia include: Autoimmune diseases, such as lupus Chronic lymphocytic leukemia Non-Hodgkin's lymphoma and other blood cancers Epstein-Barr virus Cytomegalovirus Mycoplasma pneumonia Hepatitis HIV |
frequency | How many people are affected by FOXG1 syndrome ? | FOXG1 syndrome appears to be rare. At least 30 affected individuals have been described in the medical literature. |
information | What is (are) Hypothermia ? | Cold weather can affect your body in different ways. You can get frostbite, which is frozen body tissue. Your body can also lose heat faster than you can produce it. The result is hypothermia, or abnormally low body temperature. It can make you sleepy, confused and clumsy. Because it happens gradually and affects your thinking, you may not realize you need help. That makes it especially dangerous. A body temperature below 95 F is a medical emergency and can lead to death if not treated promptly. Anyone who spends much time outdoors in cold weather can get hypothermia. You can also get it from being cold and wet, or under cold water for too long. Babies and old people are especially at risk. Babies can get it from sleeping in a cold room. Centers for Disease Control and Prevention |
treatment | What are the treatments for dihydrolipoamide dehydrogenase deficiency ? | These resources address the diagnosis or management of dihydrolipoamide dehydrogenase deficiency: - Gene Review: Gene Review: Dihydrolipoamide Dehydrogenase Deficiency - Genetic Testing Registry: Maple syrup urine disease, type 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 |
symptoms | What are the symptoms of Presenile dementia, Kraepelin type ? | What are the signs and symptoms of Presenile dementia, Kraepelin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Presenile dementia, Kraepelin type. 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 - Dementia - 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. |
inheritance | Is rapid-onset dystonia parkinsonism inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ATP1A3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits a 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. Not everyone who has an ATP1A3 mutation will ultimately develop the signs and symptoms of rapid-onset dystonia parkinsonism. It is unclear why some people with a gene mutation develop movement abnormalities and others do not. |
prevention | How to prevent Iron-Deficiency Anemia ? | Eating a well-balanced diet that includes iron-rich foods may help you prevent iron-deficiency anemia.
Taking iron supplements also may lower your risk for the condition if you're not able to get enough iron from food. Large amounts of iron can be harmful, so take iron supplements only as your doctor prescribes.
For more information about diet and supplements, go to "How Is Iron-Deficiency Anemia Treated?"
Infants and young children and women are the two groups at highest risk for iron-deficiency anemia. Special measures can help prevent the condition in these groups.
Infants and Young Children
A baby's diet can affect his or her risk for iron-deficiency anemia. For example, cow's milk is low in iron. For this and other reasons, cow's milk isn't recommended for babies in their first year. After the first year, you may need to limit the amount of cow's milk your baby drinks.
Also, babies need more iron as they grow and begin to eat solid foods. Talk with your child's doctor about a healthy diet and food choices that will help your child get enough iron.
Your child's doctor may recommend iron drops. However, giving a child too much iron can be harmful. Follow the doctor's instructions and keep iron supplements and vitamins away from children. Asking for child-proof packages for supplements can help prevent overdosing in children.
Because recent research supports concerns that iron deficiency during infancy and childhood can have long-lasting, negative effects on brain health, the American Academy of Pediatrics recommends testing all infants for anemia at 1 year of age.
Women and Girls
Women of childbearing age may be tested for iron-deficiency anemia, especially if they have:
A history of iron-deficiency anemia
Heavy blood loss during their monthly periods
Other risk factors for iron-deficiency anemia
The Centers for Disease Control and Prevention (CDC) has developed guidelines for who should be screened for iron deficiency, and how often:
Girls aged 12 to 18 and women of childbearing age who are not pregnant: Every 5 to 10 years.
Women who have risk factors for iron deficiency: Once a year.
Pregnant women: At the first prenatal visit.
For pregnant women, medical care during pregnancy usually includes screening for anemia. Also, your doctor may prescribe iron supplements or advise you to eat more iron-rich foods.This not only will help you avoid iron-deficiency anemia, but also may lower your risk of having a low-birth-weight baby. |
information | What is (are) Hypoglycemia ? | Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include - Hunger - Shakiness - Dizziness - Confusion - Difficulty speaking - Feeling anxious or weak In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
symptoms | What are the symptoms of Van Bogaert-Hozay syndrome ? | What are the signs and symptoms of Van Bogaert-Hozay syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Bogaert-Hozay syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hair - Abnormality of the pinna - Astigmatism - Autosomal recessive inheritance - Depressed nasal bridge - Distal ulnar hypoplasia - Intellectual disability, mild - Misalignment of teeth - Myopia - Osteolytic defects of the phalanges of the hand - 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. |
inheritance | Is neutral lipid storage disease with myopathy inherited ? | 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. |
symptoms | What are the symptoms of Prostate Cancer ? | Symptoms Most cancers in their early, most treatable stages don't cause any symptoms. Early prostate cancer usually does not cause symptoms. However, if prostate cancer develops and is not treated, it can cause these symptoms: - a need to urinate frequently, especially at night - difficulty starting urination or holding back urine - inability to urinate - weak or interrupted flow of urine - 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. a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of urine 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. Any of these symptoms may be caused by cancer, but more often they are due to enlargement of the prostate, which is not cancer. If You Have Symptoms If you have any of these symptoms, see your doctor or a urologist to find out if you need treatment. A urologist is a doctor who specializes in treating diseases of the genitourinary system. The doctor will ask questions about your medical history and perform an exam to try to find the cause of the prostate problems. The PSA Test The doctor may also suggest a blood test to check your prostate specific antigen, or PSA, level. PSA levels can be high not only in men who have prostate cancer, but also in men with an enlarged prostate gland and men with infections of the prostate. PSA tests may be very useful for early cancer diagnosis. However, PSA tests alone do not always tell whether or not cancer is present. PSA screening for prostate cancer is not perfect. (Screening tests check for disease in a person who shows no symptoms.) Most men with mildly elevated PSA do not have prostate cancer, and many men with prostate cancer have normal levels of PSA. A recent study revealed that men with low prostate specific antigen levels, or PSA, may still have prostate cancer. Also, the digital rectal exam can miss many prostate cancers. Other Tests The doctor may order other exams, including ultrasound, MRI, or CT scans, to learn more about the cause of the symptoms. But to confirm the presence of cancer, doctors must perform a biopsy. During a biopsy, the doctor uses needles to remove small tissue samples from the prostate and then looks at the samples under a microscope. If Cancer is Present If a biopsy shows that cancer is present, the doctor will report on the grade of the tumor. Doctors describe a tumor as low, medium, or high-grade cancer, based on the way it appears under the microscope. One way of grading prostate cancer, called the Gleason system, uses scores of 2 to 10. Another system uses G1 through G4. The higher the score, the higher the grade of the tumor. High-grade tumors grow more quickly and are more likely to spread than low-grade tumors. |
inheritance | Is restless legs syndrome inherited ? | The inheritance pattern of restless legs syndrome is usually unclear because many genetic and environmental factors can be involved. The disorder often runs in families: 40 to 90 percent of affected individuals report having at least one affected first-degree relative, such as a parent or sibling, and many families have multiple affected family members. Studies suggest that the early-onset form of the disorder is more likely to run in families than the late-onset form. In some affected families, restless legs syndrome appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder. However, the genetic changes associated with restless legs syndrome in these families have not been identified. |
frequency | How many people are affected by X-linked spondyloepiphyseal dysplasia tarda ? | The prevalence of X-linked spondyloepiphyseal dysplasia tarda is estimated to be 1 in 150,000 to 200,000 people worldwide. |
outlook | What is the outlook for Nasopharyngeal Cancer ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it affects part of the nasopharynx, involves the whole nasopharynx, or has spread to other places in the body). - The type of nasopharyngeal cancer. - The size of the tumor. - The patients age and general health. |
exams and tests | How to diagnose Carnitine-acylcarnitine translocase deficiency ? | Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficiency. In some affected children, both gene changes can be found. However, in other children, neither or only one of the two gene changes can be found, even though we know they are present. DNA testing is not necessary to diagnose carnitine-acylcarnitine translocase deficiency, however, it can be helpful for carrier testing or prenatal diagnosis. |
frequency | How many people are affected by Kawasaki disease ? | In the United States and other Western countries, Kawasaki disease occurs in approximately 1 in 10,000 children under 5 each year. The condition is 10 to 20 times more common in East Asia, including Japan, Korea, and Taiwan. |
causes | What causes Multiple myeloma ? | What causes multiple myeloma? Although the exact underlying cause of multiple myeloma is poorly understood, the specific symptoms of the condition result from abnormal and excessive growth of plasma cells in the bone marrow. Plasma cells help the body fight infection by producing proteins called antibodies. In people with multiple myeloma, excess plasma cells form tumors in the bone, causing bones to become weak and easily broken. The abnormal growth of plasma cells also makes it more difficult for the bone marrow to make healthy blood cells and platelets. The plasma cells produced in multiple myeloma produce abnormal antibodies that the immune system is unable to use. These abnormal antibodies build up in the body and cause a variety of problems. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS). |
symptoms | What are the symptoms of Lipoic acid synthetase deficiency ? | What are the signs and symptoms of Lipoic acid synthetase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Lipoic acid synthetase 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) Apnea - Autosomal recessive inheritance - Encephalopathy - Feeding difficulties - Flexion contracture - Growth delay - Hypertrophic cardiomyopathy - Increased serum lactate - Lactic acidosis - Microcephaly - Motor delay - Muscular hypotonia - Respiratory insufficiency - Seizures - Severe global developmental delay - Sleep disturbance - Spastic tetraplegia - 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. |
genetic changes | What are the genetic changes related to holocarboxylase synthetase deficiency ? | Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attaches biotin to certain enzymes that are essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the enzyme's ability to attach biotin to these enzymes, preventing them from processing nutrients properly and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase synthetase deficiency. |
information | What is (are) Alzheimer's Disease ? | Mild cognitive impairment, or MCI, is a condition that can be an early sign of Alzheimers diseasebut not everyone with MCI will develop Alzheimers. People with MCI can still take care of themselves and do their normal activities. Signs of MCI may include - losing things often - forgetting to go to events and appointments - having more trouble coming up with words than other people the same age. losing things often forgetting to go to events and appointments having more trouble coming up with words than other people the same age. |
inheritance | Is ophthalmo-acromelic syndrome inherited ? | 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. |
information | What is (are) 2-methylbutyryl-CoA dehydrogenase deficiency ? | 2-methylbutyryl-CoA dehydrogenase deficiency is a metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent. Signs and symptoms of the disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability. |
information | What is (are) Teenage Pregnancy ? | Most teenage girls don't plan to get pregnant, but many do. Teen pregnancies carry extra health risks to both the mother and the baby. Often, teens don't get prenatal care soon enough, which can lead to problems later on. They have a higher risk for pregnancy-related high blood pressure and its complications. Risks for the baby include premature birth and a low birth weight. If you're a pregnant teen, you can help yourself and your baby by - Getting regular prenatal care - Taking your prenatal vitamins for your health and to prevent some birth defects - Avoiding smoking, alcohol, and drugs - Using a condom, if you are having sex, to prevent sexually transmitted diseases that could hurt your baby |
considerations | What to do for Gastroparesis ? | Changing eating habits can sometimes help control the severity of gastroparesis symptoms. A health care provider may suggest eating six small meals a day instead of three large ones. If less food enters the stomach each time a person eats, the stomach may not become overly full, allowing it to empty more easily. Chewing food well, drinking noncarbonated liquids with a meal, and walking or sitting for 2 hours after a mealinstead of lying downmay assist with gastric emptying.
A health care provider may also recommend avoiding high-fat and fibrous foods. Fat naturally slows digestion and some raw vegetables and fruits are more difficult to digest than other foods. Some foods, such as oranges and broccoli, contain fibrous parts that do not digest well. People with gastroparesis should minimize their intake of large portions of these foods because the undigested parts may remain in the stomach too long. Sometimes, the undigested parts form bezoars.
When a person has severe symptoms, a liquid or pured diet may be prescribed. As liquids tend to empty more quickly from the stomach, some people may find a pured diet helps improve symptoms. Pured fresh or cooked fruits and vegetables can be incorporated into shakes and soups. A health care provider may recommend a dietitian to help a person plan meals that minimize symptoms and ensure all nutritional needs are met.
When the most extreme cases of gastroparesis lead to severe nausea, vomiting, and dehydration, urgent care may be required at a medical facility where IV fluids can be given.
Medications
Several prescription medications are available to treat gastroparesis. A combination of medications may be used to find the most effective treatment.
Metoclopramide (Reglan). This medication stimulates stomach muscle contractions to help with gastric emptying. Metoclopramide also helps reduce nausea and vomiting. The medication is taken 20 to 30 minutes before meals and at bedtime. Possible side effects of metoclopramide include fatigue, sleepiness, and depression. Currently, this is the only medication approved by the FDA for treatment of gastroparesis. However, the FDA has placed a black box warning on this medication because of rare reports of it causing an irreversible neurologic side effect called tardive dyskinesiaa disorder that affects movement.
Erythromycin. This antibiotic, prescribed at low doses, may improve gastric emptying. Like metaclopramide, erythromycin works by increasing the contractions that move food through the stomach. Possible side effects of erythromycin include nausea, vomiting, and abdominal cramps.
Other medications. Other medications may be used to treat symptoms and problems related to gastroparesis. For example, medications known as antiemetics are used to help control nausea and vomiting.
Botulinum Toxin
Botulinum toxin is a nerve blocking agent also known as Botox. After passing an endoscope into the stomach, a health care provider injects the Botox into the pylorus, the opening from the stomach into the duodenum. Botox is supposed to help keep the pylorus open for longer periods of time and improve symptoms of gastroparesis. Although some initial research trials showed modest improvement in gastroparesis symptoms and the rate of gastric emptying following the injections, other studies have failed to show the same degree of effectiveness of the Botox injections.1
Gastric Electrical Stimulation
This treatment alternative may be effective for some people whose nausea and vomiting do not improve with dietary changes or medications. A gastric neurostimulator is a surgically implanted battery-operated device that sends mild electrical pulses to the stomach muscles to help control nausea and vomiting. The procedure may be performed at a hospital or outpatient center by a gastroenterologist. General anesthesia may be required. The gastroenterologist makes several tiny incisions in the abdomen and inserts a laparoscopea thin tube with a tiny video camera attached. The camera sends a magnified image from inside the stomach to a video monitor, giving the gastroenterologist a close-up view of the tissues. Once implanted, the settings on the battery-operated device can be adjusted to determine the settings that best control symptoms.
Jejunostomy
If medications and dietary changes dont work, and the person is losing weight or requires frequent hospitalization for dehydration, a health care provider may recommend surgically placing a feeding tube through the abdominal wall directly into a part of the small intestine called the jejunum. The surgical procedure is known as a jejunostomy. The procedure is performed by a surgeon at a hospital or outpatient center. Anesthesia is needed. The feeding tube bypasses the stomach and delivers a special liquid food with nutrients directly into the jejunum. The jejunostomy is used only when gastroparesis is extremely severe.
Parenteral Nutrition
When gastroparesis is so severe that dietary measures and other treatments are not helping, a health care provider may recommend parenteral nutritionan IV liquid food mixture supplied through a special tube in the chest. The procedure is performed by a surgeon at a hospital or outpatient center; anesthesia is needed. The surgeon inserts a thin, flexible tube called a catheter into a chest vein, with the catheter opening outside the skin. A bag containing liquid nutrients is attached to the catheter, and the nutrients are transported through the catheter into the chest vein and into the bloodstream. This approach is a less preferable alternative to a jejunostomy and is usually a temporary treatment to get through a difficult period of gastroparesis. |
genetic changes | What are the genetic changes related to propionic acidemia ? | Mutations in the PCCA and PCCB genes cause propionic acidemia. The PCCA and PCCB genes provide instructions for making two parts (subunits) of an enzyme called propionyl-CoA carboxylase. This enzyme plays a role in the normal breakdown of proteins. Specifically, it helps process several amino acids, which are the building blocks of proteins. Propionyl-CoA carboxylase also helps break down certain types of fat and cholesterol in the body. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and prevent the normal breakdown of these molecules. As a result, a substance called propionyl-CoA and other potentially harmful compounds can build up to toxic levels in the body. This buildup damages the brain and nervous system, causing the serious health problems associated with propionic acidemia. |
information | What is (are) Glycogen storage disease type 1B ? | Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. Signs and symptoms of the condition generally develop at age 3 to 4 months and may include hypoglycemia, seizures, lactic acidosis, hyperuricemia (high levels of a waste product called uric acid in the body), and hyperlipidemia. Affected people may also have short stature; thin arms and legs; a protruding abdomen; neutropenia (which may lead to frequent infections); inflammatory bowel disease and oral health problems. GSD1B is caused by changes (mutations) in the SLC37A4 gene and is inherited in an autosomal recessive manner. Although there is currently no cure for the condition, symptoms can often be managed with a special diet in combination with certain medications. |
treatment | What are the treatments for multiple mitochondrial dysfunctions syndrome ? | These resources address the diagnosis or management of multiple mitochondrial dysfunctions syndrome: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1 - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2 - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 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 |
outlook | What is the outlook for Parry-Romberg ? | The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects. |
genetic changes | What are the genetic changes related to spastic paraplegia type 4 ? | Mutations in the SPAST gene cause spastic paraplegia type 4. The SPAST gene provides instructions for producing a protein called spastin. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules are also involved in transporting cell components and facilitating cell division. Spastin likely helps restrict microtubule length and disassemble microtubule structures when they are no longer needed. Mutations in spastin impair the microtubules' ability to transport cell components, especially in nerve cells; researchers believe this contributes to the major signs and symptoms of spastic paraplegia type 4. |
information | What is (are) Psychotic Disorders ? | Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch with reality. Two of the main symptoms are delusions and hallucinations. Delusions are false beliefs, such as thinking that someone is plotting against you or that the TV is sending you secret messages. Hallucinations are false perceptions, such as hearing, seeing, or feeling something that is not there. Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have psychotic symptoms. Other problems that can cause psychosis include alcohol and some drugs, brain tumors, brain infections, and stroke. Treatment depends on the cause of the psychosis. It might involve drugs to control symptoms and talk therapy. Hospitalization is an option for serious cases where a person might be dangerous to himself or others. |
frequency | How many people are affected by cartilage-hair hypoplasia ? | Cartilage-hair hypoplasia occurs most often in the Old Order Amish population, where it affects about 1 in 1,300 newborns. In people of Finnish descent, its incidence is approximately 1 in 20,000. Outside of these populations, the condition is rare, and its specific incidence is not known. It has been reported in individuals of European and Japanese descent. |
susceptibility | Who is at risk for Osteoporosis? ? | If you have any of these red flags, you could be at high risk for weak bones. Talk to your doctor, nurse, pharmacist, or other health care professional. Do any of these apply to you? - ____ Im older than 65. - ____ Ive broken a bone after age 50. - ____ My close relative has osteoporosis or has broken a bone. - ____ My health is fair or poor. - ____ I smoke. - ____ I am underweight for my height. - ____ I started menopause before age 45. - ____ Ive never gotten enough calcium. - ____ I have more than two drinks of alcohol several times a week. - ____ I have poor vision, even with glasses. - ____ I sometimes fall. - ____ Im not active. - ____ I have one of these medical conditions: - Hyperthyroidism - Chronic lung disease - Cancer - Inflammatory bowel disease - Chronic hepatic or renal disease - Hyperparathyroidism - Vitamin D deficiency - Cushings disease - Multiple sclerosis - Rheumatoid arthritis ____ Im older than 65. ____ Ive broken a bone after age 50. ____ My close relative has osteoporosis or has broken a bone. ____ My health is fair or poor. ____ I smoke. ____ I am underweight for my height. ____ I started menopause before age 45. ____ Ive never gotten enough calcium. ____ I have more than two drinks of alcohol several times a week. ____ I have poor vision, even with glasses. ____ I sometimes fall. ____ Im not active. ____ I have one of these medical conditions: - Hyperthyroidism - Chronic lung disease - Cancer - Inflammatory bowel disease - Chronic hepatic or renal disease - Hyperparathyroidism - Vitamin D deficiency - Cushings disease - Multiple sclerosis - Rheumatoid arthritis - Hyperthyroidism - Chronic lung disease - Cancer - Inflammatory bowel disease - Chronic hepatic or renal disease - Hyperparathyroidism - Vitamin D deficiency - Cushings disease - Multiple sclerosis - Rheumatoid arthritis Hyperthyroidism Chronic lung disease Cancer Inflammatory bowel disease Chronic hepatic or renal disease Hyperparathyroidism Vitamin D deficiency Cushings disease Multiple sclerosis Rheumatoid arthritis - ____ I take one of these medicines: - Oral glucocorticoids (steroids) - Cancer treatments (radiation, chemotherapy) - Thyroid medicine - Antiepileptic medications - Gonadal hormone suppression - Immunosuppressive agents ____ I take one of these medicines: - Oral glucocorticoids (steroids) - Cancer treatments (radiation, chemotherapy) - Thyroid medicine - Antiepileptic medications - Gonadal hormone suppression - Immunosuppressive agents - Oral glucocorticoids (steroids) - Cancer treatments (radiation, chemotherapy) - Thyroid medicine - Antiepileptic medications - Gonadal hormone suppression - Immunosuppressive agents Oral glucocorticoids (steroids) Cancer treatments (radiation, chemotherapy) Thyroid medicine Antiepileptic medications Gonadal hormone suppression Immunosuppressive agents |
frequency | How many people are affected by type 1 diabetes ? | Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the United States. By age 18, approximately 1 in 300 people in the United States develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less frequently in Asia and South America, with reported incidences as low as 1 in 1 million per year. For unknown reasons, during the past 20 years the worldwide incidence of type 1 diabetes has been increasing by 2 to 5 percent each year. Type 1 diabetes accounts for 5 to 10 percent of cases of diabetes worldwide. Most people with diabetes have type 2 diabetes, in which the body continues to produce insulin but becomes less able to use it. |
exams and tests | How to diagnose Aceruloplasminemia ? | How might aceruloplasminemia be diagnosed? When a person has more than one of the following symptoms, aceruloplasminemia should be suspected: Diabetes mellitus Retinal degeneration Anemia Movement disorder Diagnosis can be further supported by MRI and pathology results demonstrating iron deposition in the body. People with aceruloplasminemia tend to have low serum copper (<10 ug/dL), low serum iron (< 45 ug/dL), high serum ferritin (850-4000 ng/mL) and absent serum ceruloplasmin concentration. Patients also tend to demonstrate altered serum ceruloplasmin ferroxidase activity. Genetic testing is available on a research basis. |
symptoms | What are the symptoms of Multiple epiphyseal dysplasia 1 ? | What are the signs and symptoms of Multiple epiphyseal dysplasia 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hip bone 50% Arthralgia 50% Brachydactyly syndrome 50% Micromelia 50% Genu valgum 7.5% Genu varum 7.5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Delayed epiphyseal ossification - Disproportionate short-limb short stature - Epiphyseal dysplasia - Generalized joint laxity - Hip osteoarthritis - Irregular epiphyses - Irregular vertebral endplates - Joint stiffness - Limited hip movement - Mild short stature - Ovoid vertebral bodies - Short femoral neck - Short metacarpal - Short phalanx of finger - Small epiphyses - Waddling gait - 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. |
inheritance | Is Anaplastic astrocytoma inherited ? | Are anaplastic astrocytomas inherited? Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown. Familial cases of isolated astrocytomas have been reported but are very rare. Astrocytomas can have a genetic link when they are associated with a few rare, inherited disorders. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis. Astrosytomas occur more frequently in people with one of these disorders. Like many other cancers, it is believed that isolated astrocytomas may occur due to a combination of genetic and environmental factors. This means that a person may carry a gene (or a combination of genes) that predisposes them to developing an astrocytoma, but it may not develop unless it is "triggered" by an environmental factor. |
information | What is (are) Childhood Brain and Spinal Cord Tumors ? | Key Points
- A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord. - The brain controls many important body functions. - The spinal cord connects the brain with nerves in most parts of the body. - Brain and spinal cord tumors are a common type of childhood cancer. - The cause of most childhood brain and spinal cord tumors is unknown. - The signs and symptoms of childhood brain and spinal cord tumors are not the same in every child. - Tests that examine the brain and spinal cord are used to detect (find) childhood brain and spinal cord tumors. - Most childhood brain tumors are diagnosed and removed in surgery. - Some childhood brain and spinal cord tumors are diagnosed by imaging tests. - Certain factors affect prognosis (chance of recovery).
A childhood brain or spinal cord tumor is a disease in which abnormal cells form in the tissues of the brain or spinal cord.
There are many types of childhood brain and spinal cord tumors. The tumors are formed by the abnormal growth of cells and may begin in different areas of the brain or spinal cord. The tumors may be benign (not cancer) or malignant (cancer). Benign brain tumors grow and press on nearby areas of the brain. They rarely spread into other tissues. Malignant brain tumors are likely to grow quickly and spread into other brain tissue. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Both benign and malignant brain tumors can cause signs or symptoms and need treatment. Together, the brain and spinal cord make up the central nervous system (CNS).
The brain controls many important body functions.
The brain has three major parts: - The cerebrum is the largest part of the brain. It is at the top of the head. The cerebrum controls thinking, learning, problem solving, emotions, speech, reading, writing, and voluntary movement. - The cerebellum is in the lower back of the brain (near the middle of the back of the head). It controls movement, balance, and posture. - The brain stem connects the brain to the spinal cord. It is in the lowest part of the brain (just above the back of the neck). The brain stem controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating.
The spinal cord connects the brain with nerves in most parts of the body.
The spinal cord is a column of nerve tissue that runs from the brain stem down the center of the back. It is covered by three thin layers of tissue called membranes. These membranes are surrounded by the vertebrae (back bones). Spinal cord nerves carry messages between the brain and the rest of the body, such as a message from the brain to cause muscles to move or a message from the skin to the brain to feel touch.
Brain and spinal cord tumors are a common type of childhood cancer.
Although cancer is rare in children, brain and spinal cord tumors are the third most common type of childhood cancer, after leukemia and lymphoma. Brain tumors can occur in both children and adults. Treatment for children is usually different than treatment for adults. (See the PDQ summary on Adult Central Nervous System Tumors Treatment for more information about the treatment of adults.) This summary describes the treatment of primary brain and spinal cord tumors (tumors that begin in the brain and spinal cord). Treatment of metastatic brain and spinal cord tumors is not covered in this summary. Metastatic tumors are formed by cancer cells that begin in other parts of the body and spread to the brain or spinal cord. |
treatment | What are the treatments for Chandler's syndrome ? | How might Chandler's syndrome be treated? While it is not possible to halt the progression of Chandler's syndrome, the glaucoma associated with this disease can be treated with medications and/or filtering surgery. Eye drops used in managing glaucoma decrease pressure in the eye by helping the eye's fluid drain more efficiently and/or decreasing the amount of fluid made by the eye. Drugs used to treat glaucoma are classified according to their active ingredient. These include prostaglandin analogs, beta blockers, alpha agonists, and carbonic anhydrase inhibitors. Combination drugs may be necessary for some patients. If these medications do not successfully treat the glaucoma, surgery may be indicated. Trabeculectomy may be used to treat glaucoma. In some cases, multiple procedures may be necessary. The corneal swelling associated with Chandler's syndrome may be treated through a cornea transplant. Further investigation is needed to determine the best way to manage this condition. |
symptoms | What are the symptoms of Subcortical band heterotopia ? | What are the signs and symptoms of Subcortical band heterotopia? The Human Phenotype Ontology provides the following list of signs and symptoms for Subcortical band heterotopia. 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) Cognitive impairment 90% Seizures 90% Hypertonia 50% Muscular hypotonia 50% Agenesis of corpus callosum - Ataxia - Death in infancy - Dysarthria - Incomplete penetrance - Infantile onset - Intellectual disability - Lissencephaly - Micropenis - Motor delay - Muscular hypotonia of the trunk - Nystagmus - Pachygyria - Postnatal growth retardation - X-linked 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. |
information | What is (are) Neuroblastoma ? | Neuroblastoma is a cancer that forms in your nerve tissue. It usually begins in the adrenal glands, which sit atop your kidneys. It may also begin in your neck, chest or spinal cord. The cancer often begins in early childhood. Sometimes it begins before a child is born. By the time doctors find the cancer, it has usually spread to other parts of the body. The most common symptoms are - A lump in the abdomen, neck or chest - Bulging eyes - Dark circles around the eyes - Bone pain - Swollen stomach and trouble breathing in babies - Painless, bluish lumps under the skin in babies - Inability to move a body part Treatments include surgery, radiation therapy, chemotherapy, biologic therapy, or a combination. Biologic therapy boosts your body's own ability to fight cancer. Sometimes before giving treatment, doctors wait to see whether symptoms get worse. This is called watchful waiting. NIH: National Cancer Institute |
treatment | What are the treatments for antiphospholipid syndrome ? | These resources address the diagnosis or management of antiphospholipid syndrome: - Genetic Testing Registry: Antiphospholipid syndrome - Hughes Syndrome Foundation: Diagnosis: How To Get Tested - Hughes Syndrome Foundation: Treatment and Medication: Current Advice and Information - National Heart Lung and Blood Institute: How Is Antiphospholipid Antibody Syndrome Treated? 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 |
information | What is (are) Lambert-Eaton Myasthenic Syndrome ? | Lambert-Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction-the site where nerve cells meet muscle cells and help activate the muscles. It is caused by a disruption of electrical impulses between these nerve and muscle cells. LEMS is an autoimmune condition; in such disorders the immune system, which normally protects the body from foreign organisms, mistakenly attacks the body's own tissues. The disruption of electrical impulses is associated with antibodies produced as a consequence of this autoimmunity. Symptoms include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. LEMS is closely associated with cancer, in particular small cell lung cancer. More than half the individuals diagnosed with LEMS also develop small cell lung cancer. LEMS may appear up to 3 years before cancer is diagnosed. |
inheritance | Is Shwachman-Diamond syndrome inherited ? | 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. |
causes | What causes Diabetic Heart Disease ? | At least four complex processes, alone or combined, can lead to diabetic heart disease (DHD). They include coronary atherosclerosis; metabolic syndrome; insulin resistance in people who have type 2 diabetes; and the interaction of coronary heart disease (CHD), high blood pressure, and diabetes.
Researchers continue to study these processes because all of the details aren't yet known.
Coronary Atherosclerosis
Atherosclerosis is a disease in which plaque builds up inside the arteries. The exact cause of atherosclerosis isn't known. However, studies show that it is a slow, complex disease that may start in childhood. The disease develops faster as you age.
Coronary atherosclerosis may start when certain factors damage the inner layers of the coronary (heart) arteries. These factors include:
Smoking
High amounts of certain fats and cholesterol in the blood
High blood pressure
High amounts of sugar in the blood due to insulin resistance or diabetes
Plaque may begin to build up where the arteries are damaged. Over time, plaque hardens and narrows the arteries. This reduces the flow of oxygen-rich blood to your heart muscle.
Eventually, an area of plaque can rupture (break open). When this happens, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots.
Blood clots narrow the coronary arteries even more. This limits the flow of oxygen-rich blood to your heart and may worsen angina (chest pain) or cause a heart attack.
Metabolic Syndrome
Metabolic syndrome is the name for a group of risk factors that raises your risk of both CHD and type 2 diabetes.
If you have three or more of the five metabolic risk factors, you have metabolic syndrome. The risk factors are:
A large waistline (a waist measurement of 35 inches or more for women and 40 inches or more for men).
A high triglyceride (tri-GLIH-seh-ride) level (or youre on medicine to treat high triglycerides). Triglycerides are a type of fat found in the blood.
A low HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). HDL sometimes is called "good" cholesterol. This is because it helps remove cholesterol from your arteries.
High blood pressure (or youre on medicine to treat high blood pressure).
A high fasting blood sugar level (or you're on medicine to treat high blood sugar).
It's unclear whether these risk factors have a common cause or are mainly related by their combined effects on the heart.
Obesity seems to set the stage for metabolic syndrome. Obesity can cause harmful changes in body fats and how the body uses insulin.
Chronic (ongoing) inflammation also may occur in people who have metabolic syndrome. Inflammation is the body's response to illness or injury. It may raise your risk of CHD and heart attack. Inflammation also may contribute to or worsen metabolic syndrome.
Research is ongoing to learn more about metabolic syndrome and how metabolic risk factors interact.
Insulin Resistance in People Who Have Type 2 Diabetes
Type 2 diabetes usually begins with insulin resistance. Insulin resistance means that the body can't properly use the insulin it makes.
People who have type 2 diabetes and insulin resistance have higher levels of substances in the blood that cause blood clots. Blood clots can block the coronary arteries and cause a heart attack or even death.
The Interaction of Coronary Heart Disease, High Blood Pressure, and Diabetes
Each of these risk factors alone can damage the heart. CHD reduces the flow of oxygen-rich blood to your heart muscle. High blood pressure and diabetes may cause harmful changes in the structure and function of the heart.
Having CHD, high blood pressure, and diabetes is even more harmful to the heart. Together, these conditions can severely damage the heart muscle. As a result, the heart has to work harder than normal. Over time, the heart weakens and isnt able to pump enough blood to meet the bodys needs. This condition is called heart failure.
As the heart weakens, the body may release proteins and other substances into the blood. These proteins and substances also can harm the heart and worsen heart failure. |
symptoms | What are the symptoms of Leukemia ? | Common symptoms of leukemia may include - fevers - frequent infections - feeling weak or tired - headache - bleeding and bruising easily - pain in the bones or joints - swelling or discomfort in the abdomen (from an enlarged spleen) - swollen lymph nodes, especially in the neck or armpit - weight loss. fevers frequent infections feeling weak or tired headache bleeding and bruising easily pain in the bones or joints swelling or discomfort in the abdomen (from an enlarged spleen) swollen lymph nodes, especially in the neck or armpit weight loss. Symptoms of acute leukemia may include vomiting, confusion, loss of muscle control, and seizures. |
frequency | How many people are affected by xeroderma pigmentosum ? | Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 in 1 million people in the United States and Europe. The condition is more common in Japan, North Africa, and the Middle East. |
genetic changes | What are the genetic changes related to type 1 diabetes ? | The causes of type 1 diabetes are unknown, although several risk factors have been identified. The risk of developing type 1 diabetes is increased by certain variants of the HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes. These genes provide instructions for making proteins that play a critical role in the immune system. The HLA-DQA1, HLA-DQB1, and HLA-DRB1 genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders such as viruses and bacteria. Type 1 diabetes is generally considered to be an autoimmune disorder. Autoimmune disorders occur when the immune system attacks the body's own tissues and organs. For unknown reasons, in people with type 1 diabetes the immune system damages the insulin-producing beta cells in the pancreas. Damage to these cells impairs insulin production and leads to the signs and symptoms of type 1 diabetes. HLA genes, including HLA-DQA1, HLA-DQB1, and HLA-DRB1, have many variations, and individuals have a certain combination of these variations, called a haplotype. Certain HLA haplotypes are associated with a higher risk of developing type 1 diabetes, with particular combinations of HLA-DQA1, HLA-DQB1, and HLA-DRB1 gene variations resulting in the highest risk. These haplotypes seem to increase the risk of an inappropriate immune response to beta cells. However, these variants are also found in the general population, and only about 5 percent of individuals with the gene variants develop type 1 diabetes. HLA variations account for approximately 40 percent of the genetic risk for the condition. Other HLA variations appear to be protective against the disease. Additional contributors, such as environmental factors and variations in other genes, are also thought to influence the development of this complex disorder. |
information | What is (are) Pure autonomic failure ? | Pure autonomic failure is characterized by generalized autonomic failure without central nervous system (brain or spinal cord) involvement. The autonomic nervous system is the part of our bodies that controls involuntary actions, such as the widening or narrowing of our blood vessels. Failure of this system can cause a variety of symptoms. The most common symptom of pure autonomic failure is orthostatic hypotension. Other symptoms may include decreased sweating, heat intolerance, inability to empty the bladder, erectile dysfunction, incontinence or constipation, and pupil changes. The cause of this condition is usually unknown. |
causes | What causes Localized scleroderma ? | What causes morphea? The exact cause of morphea is unknown. It is not infectious. It is not hereditary, though, similar problems may present in other family members. It's believed that a reaction of the immune system plays a role in the development of this rare condition. Experts have explored a possible connection between morphea and infection, such as measles or chickenpox, but recent research doesn't support this theory. Other factors that may be associated with the onset of morphea include radiation therapy or repeated trauma to the affected area. |
inheritance | Is cerebral cavernous malformation inherited ? | This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In the familial form, an affected person inherits the mutation from one affected parent. Most people with cerebral cavernous malformations have the sporadic form of the disorder. These cases occur in people with no history of the disorder in their family. |
frequency | How many people are affected by frontometaphyseal dysplasia ? | Frontometaphyseal dysplasia is a rare disorder; only a few dozen cases have been reported worldwide. |
symptoms | What are the symptoms of Stickler syndrome type 1 ? | What are the signs and symptoms of Stickler syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vitreous humor 90% Cataract 90% Long philtrum 90% Myopia 90% Retinal detachment 90% Short nose 90% Skeletal dysplasia 90% Abnormality of the mitral valve 50% Abnormality of vertebral epiphysis morphology 50% Arthralgia 50% Cleft palate 50% Disproportionate tall stature 50% Joint hypermobility 50% Osteoarthritis 50% Platyspondyly 50% Proptosis 50% Sensorineural hearing impairment 50% Cognitive impairment 7.5% Conductive hearing impairment 7.5% Visual impairment 7.5% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Beaking of vertebral bodies - Blindness - Depressed nasal bridge - Flat midface - Glaucoma - Irregular femoral epiphysis - Kyphosis - Malar flattening - Mitral valve prolapse - Pectus excavatum - Pierre-Robin sequence - Scoliosis - Spondyloepiphyseal dysplasia - 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. |
information | Do you have information about Alcohol | Summary : If you are like many Americans, you drink alcohol at least occasionally. For many people, moderate drinking is probably safe. It may even have health benefits, including reducing your risk of certain heart problems. For most women and for most people over 65, moderate drinking is no more than three drinks a day or seven drinks per week. For men under 65, it is no more than four drinks a day or 14 drinks per week. Some people should not drink at all, including alcoholics, children, pregnant women, people taking certain medicines, and people with certain medical conditions. If you have questions about whether it is safe for you to drink, speak with your health care provider. Anything more than moderate drinking can be risky. Heavy drinking can lead to alcoholism and alcohol abuse, as well as injuries, liver disease, heart disease, cancer, and other health problems. It can also cause problems at home, at work, and with friends. NIH: National Institute on Alcohol Abuse and Alcoholism |
causes | What causes Multicentric Castleman Disease ? | What causes multicentric Castleman disease? The exact underlying cause of multicentric Castleman disease (MCD) is poorly understood. However, some scientists suspect that an increased production of interleukin-6 (IL-6) by the immune system may contribute to the development of MCD. IL-6 is a substance normally produced by cells within the lymph nodes that helps coordinate the immune response to infection. Increased production of IL-6 may result in an overgrowth of lymphatic cells, leading to many of the signs and symptoms of MCD. It has also been found that a virus called human herpes virus type 8 (also known as HHV-8, Kaposi's sarcoma-associated herpesvirus, or KSHV) is present in many people with MCD. HHV-8 is found in nearly all people who are HIV-positive and develop MCD, and in up to 60% of affected people without HIV. The HHV-8 virus may possibly cause MCD by making its own IL-6. |
treatment | What are the treatments for Galactosialidosis ? | How might galactosialidosis be treated? There is no cure for galactosialidosis. Treatment is symptomatic and supportive; for example, taking medication to control seizures. Individuals with galactosialidosis are encouraged to routinely see their genetic counselors, neurological, ophthalmological, and other specialists as symptoms arise and to keep symptoms controlled. Bone marrow transplant is under investigation as an experimental therapy. No conclusive results are currently available regarding the long term benefits of this treatment. |
causes | What causes 15q11.2 microdeletion ? | What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion. The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected. |
treatment | What are the treatments for spondyloepiphyseal dysplasia congenita ? | These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita: - Genetic Testing Registry: Spondyloepiphyseal dysplasia congenita - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Lordosis - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis 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 |
symptoms | What are the symptoms of Joubert syndrome ? | What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Gait disturbance 50% Long face 50% Narrow forehead 50% Nystagmus 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Oral cleft 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Scoliosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Tremor 7.5% Occipital myelomeningocele 5% Renal cyst 5% Retinal dysplasia 5% Abnormality of saccadic eye movements - Abnormality of the foot - Agenesis of cerebellar vermis - Aggressive behavior - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Cerebellar vermis hypoplasia - Chorioretinal coloboma - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Enlarged fossa interpeduncularis - Epicanthus - Episodic tachypnea - Hemifacial spasm - Hepatic fibrosis - Heterogeneous - Hyperactivity - Hypoplasia of the brainstem - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Macroglossia - Molar tooth sign on MRI - Neonatal breathing dysregulation - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Prominent forehead - Protruding tongue - Retinal dystrophy - Self-mutilation - Triangular-shaped open mouth - 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. |
inheritance | Is Lafora disease inherited ? | Is Lafora disease inherited? Lafora disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. |
information | Do you have information about Cold and Cough Medicines | Summary : Sneezing, sore throat, a stuffy nose, coughing -- everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds. What can you do for your cold or cough symptoms? Besides drinking plenty of fluids and getting plenty of rest, you may want to take medicines. There are lots of different cold and cough medicines, and they do different things. - Nasal decongestants - unclog a stuffy nose - Cough suppressants - quiet a cough - Expectorants - loosen mucus so you can cough it up - Antihistamines - stop runny noses and sneezing - Pain relievers - ease fever, headaches, and minor aches and pains Here are some other things to keep in mind about cold and cough medicines. Read labels, because many cold and cough medicines contain the same active ingredients. Taking too much of certain pain relievers can lead to serious injury. Do not give cough medicines to children under four, and don't give aspirin to children. Finally, antibiotics won't help a cold. Food and Drug Administration |
information | What is (are) Gastrointestinal Stromal Tumors ? | Key Points
- Gastrointestinal stromal tumor is a disease in which abnormal cells form in the tissues of the gastrointestinal tract. - Genetic factors can increase the risk of having a gastrointestinal stromal tumor. - Signs of gastrointestinal stromal tumors include blood in the stool or vomit. - Tests that examine the GI tract are used to detect (find) and diagnose gastrointestinal stromal tumors. - Very small GISTs are common. - Certain factors affect prognosis (chance of recovery) and treatment options.
Gastrointestinal stromal tumor is a disease in which abnormal cells form in the tissues of the gastrointestinal tract.
The gastrointestinal (GI) tract is part of the bodys digestive system. It helps to digest food and takes nutrients (vitamins, minerals, carbohydrates, fats, proteins, and water) from food so they can be used by the body. The GI tract is made up of the following organs: - Stomach. - Small intestine. - Large intestine (colon). Gastrointestinal stromal tumors (GISTs) may be malignant (cancer) or benign (not cancer). They are most common in the stomach and small intestine but may be found anywhere in or near the GI tract. Some scientists believe that GISTs begin in cells called interstitial cells of Cajal (ICC), in the wall of the GI tract. See the PDQ summary about Unusual Cancers of Childhood Treatment for information on the treatment of GIST in children.
Very small GISTs are common.
Sometimes GISTs are smaller than the eraser on top of a pencil. Tumors may be found during a procedure that is done for another reason, such as an x-ray or surgery. Some of these small tumors will not grow and cause signs or symptoms or spread to the abdomen or other parts of the body. Doctors do not agree on whether these small tumors should be removed or whether they should be watched to see if they begin to grow. |
causes | What causes Pemphigus vulgaris ? | What causes pemphigus vulgaris? Pemphigus vulgaris is an autoimmune disorder. The immune system produces antibodies against specific proteins in the skin and mucous membranes. These antibodies create a reaction that cause skin cells to separate. Although it is rare, some cases of pemphigus vulgaris are caused by certain medications. Medications that may cause this condition include: Blood pressure medications called ACE inhibitors Chelating agents such as penicillamine, which remove certain materials from the blood While in many cases the exact cause of pemphigus vulgaris remains unknown, several potentially relevant factors have been identified. Genetic factors: Predisposition to pemphigus is linked to genetic factors.Certain major histocompatibility complex (MHC) class II molecules, in particular alleles of human leukocyte antigen (HLA) DR4, appear to confer susceptibility to pemphigus vulgaris. Age: Peak age of onset is from 50-60 years. Infants with neonatal pemphigus typically recover after protection from their mother's antibodies have cleared their systems. The disease may, nonetheless, develop in children or in older persons, as well. Disease association: Pemphigus commonly occurs in individuals who also have other autoimmune diseases, particularly myasthenia gravis and thymoma. Pemphigus is not contagious. It does not spread from person to person. Though there can be a genetic predisposition to develop pemphigus, there is no indication the disease is hereditary. |
symptoms | What are the symptoms of Hyperthermia induced defects ? | What are the signs and symptoms of Hyperthermia induced defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperthermia induced defects. 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 prenatal development or birth 90% Cognitive impairment 90% EEG abnormality 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Abnormality of neuronal migration 50% Aplasia/Hypoplasia affecting the eye 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Limitation of joint mobility 50% Malar flattening 50% Microcephaly 50% Single transverse palmar crease 50% Hypertonia 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. |
information | What is (are) Dermal eccrine cylindroma ? | Cylindromas are non-cancerous (benign) tumors that develop from the skin. They most commonly occur on the head and neck and rarely become cancerous (malignant). An individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. They usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. The development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis. Individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. The tumors grow very slowly and increase in number over time. |
inheritance | Is 22q11.2 deletion syndrome inherited ? | The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the condition to their children. In about 10 percent of cases, a person with this condition inherits the deletion in chromosome 22 from a parent. In inherited cases, other family members may be affected as well. |
outlook | What is the outlook for Adult Non-Hodgkin Lymphoma ? | Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of non-Hodgkin lymphoma. - The amount of lactate dehydrogenase (LDH) in the blood. - Whether there are certain changes in the genes. - The patients age and general health. - Whether the lymphoma has just been diagnosed or has recurred (come back). For non-Hodgkin lymphoma during pregnancy, the treatment options also depend on: - The wishes of the patient. - Which trimester of pregnancy the patient is in. - Whether the baby can be delivered early. Some types of non-Hodgkin lymphoma spread more quickly than others do. Most non-Hodgkin lymphomas that occur during pregnancy are aggressive. Delaying treatment of aggressive lymphoma until after the baby is born may lessen the mother's chance of survival. Immediate treatment is often recommended, even during pregnancy. |
information | What is (are) atelosteogenesis type 3 ? | Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Their hands and feet are wide, with broad fingers and toes that may be permanently bent (camptodactyly) or fused together (syndactyly). Characteristic facial features include a broad forehead, wide-set eyes (hypertelorism), and an underdeveloped nose. About half of affected individuals have an opening in the roof of the mouth (a cleft palate.) Individuals with atelosteogenesis type 3 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure. Some affected individuals survive longer, usually with intensive medical support. They typically experience further respiratory problems as a result of weakness of the airways that can lead to partial closing, short pauses in breathing (apnea), or frequent infections. People with atelosteogenesis type 3 who survive past the newborn period may have learning disabilities and delayed language skills, which are probably caused by low levels of oxygen in the brain due to respiratory problems. As a result of their orthopedic abnormalities, they also have delayed development of motor skills such as standing and walking. |
symptoms | What are the symptoms of Chromosome 4q deletion ? | What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs) Heart defects and/or arrhythmias Hypotonia (reduced muscle tone) Seizures Short stature Developmental delay Intellectual disability Metabolic disorders Gastrointestinal problems Kidney abnormalities |
information | What is (are) C3 glomerulopathy ? | C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood. The kidney problems associated with C3 glomerulopathy tend to worsen over time. About half of affected individuals develop end-stage renal disease (ESRD) within 10 years after their diagnosis. ESRD is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively. Researchers have identified two major forms of C3 glomerulopathy: dense deposit disease and C3 glomerulonephritis. Although the two disorders cause similar kidney problems, the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. However, the signs and symptoms of either disease may not begin until adulthood. One of the two forms of C3 glomerulopathy, dense deposit disease, can also be associated with other conditions unrelated to kidney function. For example, people with dense deposit disease may have acquired partial lipodystrophy, a condition characterized by a lack of fatty (adipose) tissue under the skin in the upper part of the body. Additionally, some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the back of the eye (the retina). These deposits usually appear in childhood or adolescence and can cause vision problems later in life. |
symptoms | What are the symptoms of Cri du chat syndrome ? | What are the signs and symptoms of Cri du chat syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cri du chat syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Abnormality of the voice 90% Cognitive impairment 90% Epicanthus 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Muscular hypotonia 90% Round face 90% Wide nasal bridge 90% Abnormality of the palate 50% Hypertelorism 50% Intrauterine growth retardation 50% Scoliosis 50% Short neck 50% Short palm 50% Short stature 50% Abnormality of bone mineral density 7.5% Finger syndactyly 7.5% Hernia of the abdominal wall 7.5% Joint hypermobility 7.5% Preauricular skin tag 7.5% Recurrent fractures 7.5% Abnormality of cardiovascular system morphology - Abnormality of the kidney - Abnormality of the pinna - Aggressive behavior - Anterior open-bite malocclusion - Anxiety - Autism - Bifid uvula - Cat cry - Cataract - Conspicuously happy disposition - Cryptorchidism - Delayed speech and language development - Diastasis recti - Difficulty walking - Downturned corners of mouth - Echolalia - Facial asymmetry - Facial grimacing - Feeding difficulties in infancy - Functional respiratory abnormality - Gastroesophageal reflux - Growth delay - Hearing impairment - High axial triradius - High palate - Hyperactivity - Hyperacusis - Hypertonia - Hypospadias - Inguinal hernia - Intellectual disability - Long face - Low-set ears - Microretrognathia - Myopia - Narrow face - Neonatal hypotonia - Oppositional defiant disorder - Optic atrophy - Oral cleft - Overfriendliness - Pes planus - Premature graying of hair - Prominent supraorbital ridges - Recurrent infections in infancy and early childhood - Self-mutilation - Short attention span - Short metacarpal - Short metatarsal - Short philtrum - Single transverse palmar crease - Small for gestational age - Sporadic - Stenosis of the external auditory canal - Stereotypic behavior - Strabismus - Syndactyly - Thick lower lip vermilion - 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. |
inheritance | Is Noonan syndrome inherited ? | 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. |
frequency | How many people are affected by infantile neuroaxonal dystrophy ? | Infantile neuroaxonal dystrophy is a very rare disorder. Its specific incidence is unknown. |
genetic changes | What are the genetic changes related to Gorlin syndrome ? | Mutations in the PTCH1 gene cause Gorlin syndrome. This gene provides instructions for making a protein called patched-1, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. A protein called Sonic Hedgehog is the ligand for the patched-1 receptor. Patched-1 blocks cell growth and division (proliferation) until Sonic Hedgehog is attached. The PTCH1 gene is a tumor suppressor gene, which means it stops cells from proliferating too rapidly or in an uncontrolled way. Mutations in this gene prevent the production of patched-1 or lead to the production of an abnormal version of the receptor. An altered or missing patched-1 receptor cannot effectively suppress cell growth and division. As a result, cells proliferate uncontrollably to form the tumors that are characteristic of Gorlin syndrome. It is less clear how PTCH1 gene mutations cause the other signs and symptoms related to this condition. The characteristic features of Gorlin syndrome can also be associated with a chromosomal change called a 9q22.3 microdeletion, in which a small piece of chromosome 9 is deleted in each cell. This deletion includes the segment of chromosome 9 that contains the PTCH1 gene, and as a result, people with a 9q22.3 microdeletion are missing one copy of this gene. Loss of this gene underlies the signs and symptoms of Gorlin syndrome in people with 9q22.3 microdeletions. Affected individuals also have features that are not typically associated with Gorlin syndrome, including delayed development, intellectual disability, overgrowth of the body (macrosomia), and other physical abnormalities. Researchers believe that these other signs and symptoms may result from the loss of additional genes in the deleted region of chromosome 9. |
information | What is (are) Moebius Syndrome ? | Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. Many of the other cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th. The first symptom, present at birth, is an inability to suck. Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. Approximately 30 to 40 percent of children with Moebius syndrome have some degree of autism.
There are four recognized categories of Moebius syndrome:
- Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; - Group II, characterized by loss and degeneration of neurons in the facial peripheral nerve; - Group III, characterized by loss and degeneration of neurons and other brain cells, microscopic areas of damage, and hardened tissue in the brainstem nuclei, and, - Group IV, characterized by muscular symptoms in spite of a lack of lesions in the cranial nerve. |
symptoms | What are the symptoms of Congenital mirror movement disorder ? | What are the signs and symptoms of Congenital mirror movement disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital mirror movement disorder. 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) Incomplete penetrance 50% Autosomal dominant inheritance - Bimanual synkinesia - 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. |
information | What is (are) congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened. A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy. |
information | Do you have information about Cholesterol | Summary : Cholesterol is a waxy, fat-like substance that occurs naturally in all parts of the body. Your body needs some cholesterol to work properly. But if you have too much in your blood, it can combine with other substances in the blood and stick to the walls of your arteries. This is called plaque. Plaque can narrow your arteries or even block them. High levels of cholesterol in the blood can increase your risk of heart disease. Your cholesterol levels tend to rise as you get older. There are usually no signs or symptoms that you have high blood cholesterol, but it can be detected with a blood test. You are likely to have high cholesterol if members of your family have it, if you are overweight or if you eat a lot of fatty foods. You can lower your cholesterol by exercising more and eating more fruits and vegetables. You also may need to take medicine to lower your cholesterol. NIH: National Heart, Lung, and Blood Institute |
information | What is (are) Hereditary sensory neuropathy type 1 ? | Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time. HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 (HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by mutations in the SPTLC2 gene; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy. |
frequency | How many people are affected by short QT syndrome ? | Short QT syndrome appears to be rare. At least 70 cases have been identified worldwide since the condition was discovered in 2000. However, the condition may be underdiagnosed because some affected individuals never experience symptoms. |
information | What is (are) inherited thyroxine-binding globulin deficiency ? | Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced. Researchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones. Although inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments. |
treatment | What are the treatments for Neurosarcoidosis ? | There is no agreed upon standard of treatment for neurosarcoidosis. Doctors generally recommend corticosteroid therapy as first-line therapy for individuals with the condition. Additional treatment with immunomodulatory drugs such as hydroxychloroquine, pentoxyfilline, thalidomide, and infliximab, and immunosuppressive drugs such as methotrexate, azathioprine, cyclosporin, and cyclophosphamide, have benefited some individuals. While the use of corticosteroids and other immunosuppressive drugs is effective, these medications also have undesirable side effects. Side effects and experience with certain drugs may play a role in medication choices. |
symptoms | What are the symptoms of Neurofaciodigitorenal syndrome ? | What are the signs and symptoms of Neurofaciodigitorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurofaciodigitorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antitragus 90% Abnormality of the metacarpal bones 90% Abnormality of the tragus 90% Atresia of the external auditory canal 90% Cognitive impairment 90% Frontal bossing 90% Intrauterine growth retardation 90% Large earlobe 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Midline defect of the nose 90% Muscular hypotonia 90% Prominent nasal bridge 90% Short stature 90% Triphalangeal thumb 90% Abnormality of the distal phalanx of finger 50% Abnormality of the elbow 50% Abnormality of the philtrum 50% Corneal dystrophy 50% Cryptorchidism 50% Epicanthus 50% Hypertelorism 50% Mandibular prognathia 50% Pectus excavatum 50% Plagiocephaly 50% Ptosis 50% Renal hypoplasia/aplasia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Bifid nose - EEG abnormality - Intellectual disability - Prominent forehead - Unilateral renal agenesis - 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. |
information | What is (are) Cyclic Vomiting Syndrome ? | The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening through which stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. Cyclic vomiting syndrome affects the upper GI tract, which includes the mouth, esophagus, stomach, small intestine, and duodenum, the first part of the small intestine. The esophagus is the muscular tube that carries food and liquids from the mouth to the stomach. The stomach slowly pumps the food and liquids through the duodenum and into the rest of the small intestine, which absorbs nutrients from food particles. This process is automatic and people are usually not aware of it, though people sometimes feel food in their esophagus when they swallow something too large, try to eat too quickly, or drink hot or cold liquids. |
genetic changes | What are the genetic changes related to aceruloplasminemia ? | Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells to help carry oxygen. CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or they prevent the protein from being released (secreted) by the cells in which it is made. When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction, and the other health problems seen in aceruloplasminemia. |
frequency | How many people are affected by beta-ketothiolase deficiency ? | Beta-ketothiolase deficiency appears to be very rare. It is estimated to affect fewer than 1 in 1 million newborns. |
symptoms | What are the symptoms of Pontocerebellar hypoplasia type 2 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia 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) Death in childhood 7.5% Cerebral atrophy 5% Cerebral cortical atrophy 5% Cortical gyral simplification 5% Ventriculomegaly 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Babinski sign - Cerebellar hemisphere hypoplasia - Cerebellar hypoplasia - Cerebellar vermis hypoplasia - Chorea - Clonus - Congenital onset - Dystonia - Extrapyramidal dyskinesia - Feeding difficulties - Gliosis - Hypoplasia of the brainstem - Hypoplasia of the corpus callosum - Hypoplasia of the pons - Impaired smooth pursuit - Limb hypertonia - Microcephaly - Muscular hypotonia of the trunk - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - Sloping forehead - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
outlook | What is the outlook for Striatonigral Degeneration ? | Striatonigral degeneration progresses slowly. Some patients have normal life expectancy. |
frequency | How many people are affected by oculocutaneous albinism ? | Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. The condition affects people in many ethnic groups and geographical regions. Types 1 and 2 are the most common forms of this condition; types 3 and 4 are less common. Type 2 occurs more frequently in African Americans, some Native American groups, and people from sub-Saharan Africa. Type 3, specifically rufous oculocutaneous albinism, has been described primarily in people from southern Africa. Studies suggest that type 4 occurs more frequently in the Japanese and Korean populations than in people from other parts of the world. |
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