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What is the outlook for Motor Neuron Diseases ?
|
Prognosis varies depending on the type of MND and the age of onset. Some MNDs, such as primary lateral sclerosis and Kennedy disease, are not fatal and progress slowly. Patients with spinal muscular atrophy may appear to be stable for long periods, but improvement should not be expected. Some MNDs, such as ALS and some forms of spinal muscular atrophy, are fatal.
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How many people are affected by enlarged parietal foramina ?
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The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 to 50,000 individuals.
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What is (are) Bartter syndrome ?
|
Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body.
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What is (are) Anxiety Disorders ?
|
Occasional anxiety is a normal part of life. You might feel anxious when faced with a problem at work, before taking a test, or making an important decision. However, anxiety disorders involve more than temporary worry or fear. For a person with an anxiety disorder, the anxiety does not go away and can get worse over time. These feelings can interfere with daily activities such as job performance, school work, and relationships. (Watch the video to learn about the types of anxiety disorders. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Anxiety Disorders in Older Adults Studies estimate that anxiety disorders affect up to 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging. Anxiety disorders commonly occur along with other mental or physical illnesses, including alcohol or substance abuse, which may mask anxiety symptoms or make them worse. In older adults, anxiety disorders often occur at the same time as depression, heart disease, diabetes, and other medical problems. In some cases, these other problems need to be treated before a person can respond well to treatment for anxiety. There are three types of anxiety disorders discussed here. - generalized anxiety disorder - social phobia - panic disorder generalized anxiety disorder social phobia panic disorder Generalized Anxiety Disorder (GAD) All of us worry about things like health, money, or family problems. But people with generalized anxiety disorder (GAD) are extremely worried about these and many other things, even when there is little or no reason to worry about them. They are very anxious about just getting through the day. They think things will always go badly. At times, worrying keeps people with GAD from doing everyday tasks. Learn more about generalized anxiety disorder (GAD). Social Phobia In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands, or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear. Learn more about social phobia. Panic Disorder In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. Learn more about panic disorder. Anxiety Disorders Are Treatable In general, anxiety disorders are treated with medication, specific types of psychotherapy, or both. Treatment choices depend on the type of disorder, the persons preference, and the expertise of the doctor. If you think you have an anxiety disorder, talk to your doctor.
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] |
Is fish-eye disease 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.
|
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] |
Is Myhre syndrome inherited ?
|
How is Myhre 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. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
|
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] |
[
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
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1,
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1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1
] |
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273,
253,
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275,
616,
2021,
15
] |
Is Legius 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.
|
[
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] |
[
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1
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[
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281,
2847,
253,
8984,
15
] |
What is (are) GM1 gangliosidosis type 3 ?
|
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.
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What are the symptoms of Hereditary angioedema ?
|
What are the signs and symptoms of Hereditary angioedema? Hereditary angioedema is characterized by recurrent episodes of severe swelling (angioedema). The most commonly involved areas of the body are the limbs, face, intestinal tract, and airway. While minor trauma or stress may trigger an attack, swelling often occurs without a known trigger. Episodes involving the intestinal tract cause severe abdominal pain, nausea, and vomiting. Swelling in the airway can restrict breathing and lead to life-threatening obstruction of the airway. About one-third of people with this condition develop a non-itchy rash called erythema marginatum during an attack. Symptoms of hereditary angioedema typically begin in childhood and worsen during puberty. Untreated individuals may have an attack every 1 to 2 weeks. Most episodes last 3 to 4 days. The frequency and duration of attacks vary greatly among individuals with hereditary angioedema, even among those in the same family. The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary angioedema. 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) Edema 90% Urticaria 90% Abdominal pain 7.5% Ascites 7.5% Immunologic hypersensitivity 7.5% Intestinal obstruction 7.5% Abnormality of the larynx - Angioedema - Autoimmunity - Autosomal dominant inheritance - Diarrhea - Erythema - Intestinal edema - Laryngeal edema - Peripheral axonal neuropathy - Pharyngeal edema - Vomiting - 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.
|
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] |
How many people are affected by carnitine palmitoyltransferase II deficiency ?
|
CPT II deficiency is a rare disorder. The lethal neonatal form has been described in at least 18 families, while the severe infantile hepatocardiomuscular form has been identified in approximately 30 families. The myopathic form occurs most frequently, with more than 300 reported cases.
|
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What are the treatments for mucolipidosis II alpha/beta ?
|
These resources address the diagnosis or management of mucolipidosis II alpha/beta: - Gene Review: Gene Review: Mucolipidosis II - Genetic Testing Registry: I cell disease - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Kyphosis 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
|
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What causes Diverticular Disease ?
|
Scientists are not certain what causes diverticulosis and diverticular disease. For more than 50 years, the most widely accepted theory was that a low-fiber diet led to diverticulosis and diverticular disease. Diverticulosis and diverticular disease were first noticed in the United States in the early 1900s, around the time processed foods were introduced into the American diet. Consumption of processed foods greatly reduced Americans fiber intake. Diverticulosis and diverticular disease are common in Western and industrialized countriesparticularly the United States, England, and Australiawhere low-fiber diets are common. The condition is rare in Asia and Africa, where most people eat high-fiber diets.1 Two large studies also indicate that a low-fiber diet may increase the chance of developing diverticular disease.2
However, a recent study found that a low-fiber diet was not associated with diverticulosis and that a high-fiber diet and more frequent bowel movements may be linked to an increased rather than decreased chance of diverticula.3
Other studies have focused on the role of decreased levels of the neurotransmitter serotonin in causing decreased relaxation and increased spasms of the colon muscle. A neurotransmitter is a chemical that helps brain cells communicate with nerve cells. However, more studies are needed in this area.
Studies have also found links between diverticular disease and obesity, lack of exercise, smoking, and certain medications including nonsteroidal anti-inflammatory drugs, such as aspirin, and steroids.3
Scientists agree that with diverticulitis, inflammation may begin when bacteria or stool get caught in a diverticulum. In the colon, inflammation also may be caused by a decrease in healthy bacteria and an increase in disease-causing bacteria. This change in the bacteria may permit chronic inflammation to develop in the colon.
What is fiber? Fiber is a substance in foods that comes from plants. Fiber helps soften stool so it moves smoothly through the colon and is easier to pass. Soluble fiber dissolves in water and is found in beans, fruit, and oat products. Insoluble fiber does not dissolve in water and is found in whole-grain products and vegetables. Both kinds of fiber help prevent constipation. Constipation is a condition in which an adult has fewer than three bowel movements a week or has bowel movements with stools that are hard, dry, and small, making them painful or difficult to pass. High-fiber foods also have many benefits in preventing and controlling chronic diseases, such as cardiovascular disease, obesity, diabetes, and cancer.2
|
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What is (are) Legg-Calv-Perthes disease ?
|
Legg-Calv-Perthes disease is a bone disorder that affects the hips. Usually, only one hip is involved, but in about 10 percent of cases, both hips are affected. Legg-Calv-Perthes disease begins in childhood, typically between ages 4 and 8, and affects boys more frequently than girls. In this condition, the upper end of the thigh bone, known as the femoral head, breaks down. As a result, the femoral head is no longer round and does not move easily in the hip socket, which leads to hip pain, limping, and restricted leg movement. The bone eventually begins to heal itself through a normal process called bone remodeling, by which old bone is removed and new bone is created to replace it. This cycle of breakdown and healing can recur multiple times. Affected individuals are often shorter than their peers due to the bone abnormalities. Many people with Legg-Calv-Perthes disease go on to develop a painful joint disorder called osteoarthritis in the hips at an early age.
|
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What is (are) pachyonychia congenita ?
|
Pachyonychia congenita is a condition that primarily affects the nails and skin. The signs and symptoms of this condition usually become apparent within the first few months of life. Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. Many affected children also develop very painful blisters and calluses on the soles of the feet and, less commonly, on the palms of the hands. This condition is known as palmoplantar keratoderma. Severe blisters and calluses on the feet can make it painful or impossible to walk. Pachyonychia congenita can have several additional features, which vary among affected individuals. These features include thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps called follicular keratoses that develop around hair follicles on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis). Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or natal teeth, which are teeth that are present at birth or in early infancy. Rarely, pachyonychia congenita can affect the voice box (larynx), potentially leading to hoarseness or breathing problems. Researchers used to split pachyonychia congenita into two types, PC-1 and PC-2, based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the features of the two types overlapped considerably. Now researchers prefer to describe pachyonychia congenita based on the gene that is altered.
|
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What are the treatments for Frasier syndrome ?
|
These resources address the diagnosis or management of Frasier syndrome: - Genetic Testing Registry: Frasier syndrome - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis - MedlinePlus Encyclopedia: Nephrotic Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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What is (are) Friedreich ataxia ?
|
Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder around puberty. Poor balance when walking and slurred speech are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear. About 25 percent of people with Friedreich ataxia have an atypical form that begins after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.
|
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What is (are) Bethlem myopathy ?
|
Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Most cases are inherited in an autosomal dominant pattern and occur as the result of a new mutation. In rare cases, the disease follows an autosomal recessive pattern of inheritance. Treatment depends upon individual symptoms, but routinely involves physical therapy. Surgery or other measures may be undertaken as needed.
|
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What is (are) Liver Diseases ?
|
Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. There are many kinds of liver diseases. Viruses cause some of them, like hepatitis A, hepatitis B, and hepatitis C. Others can be the result of drugs, poisons or drinking too much alcohol. If the liver forms scar tissue because of an illness, it's called cirrhosis. Jaundice, or yellowing of the skin, can be one sign of liver disease. Cancer can affect the liver. You could also inherit a liver disease such as hemochromatosis. Tests such as imaging tests and liver function tests can check for liver damage and help to diagnose liver diseases.
|
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How many people are affected by Senior-Lken syndrome ?
|
Senior-Lken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature.
|
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What is (are) Urinary Tract Infections ?
|
The urinary system is the body's drainage system for removing wastes and extra water. It includes two kidneys, two ureters, a bladder, and a urethra. Urinary tract infections (UTIs) are the second most common type of infection in the body. You may have a UTI if you notice - Pain or burning when you urinate - Fever, tiredness, or shakiness - An urge to urinate often - Pressure in your lower belly - Urine that smells bad or looks cloudy or reddish - Pain in your back or side below the ribs People of any age or sex can get UTIs. But about four times as many women get UTIs as men. You're also at higher risk if you have diabetes, need a tube to drain your bladder, or have a spinal cord injury. If you think you have a UTI it is important to see your doctor. Your doctor can tell if you have a UTI with a urine test. Treatment is with antibiotics. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
|
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What is (are) Oral lichen planus ?
|
Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in the mouth. Severe lichen planus slightly increases the risk for oral cancer. Oral lichen planus may occur alone or in combination with other skin forms of lichen planus.
|
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How many people are affected by isolated Pierre Robin sequence ?
|
Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 people.
|
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What are the treatments for Children's interstitial lung disease ?
|
How might chILD be treated? There is no single treatment for interstitial lung diseases in children. Different forms of chILD require different treatments and support depending on the condition. The goals of treatment for chILD is to relieve symptoms, provide support to maximize growth and development, and to prevent exposure to preventable illnesses that could make the chILD worse. See the Children's Interstitial and Diffuse Lung Disease Foundation for more detailed information about treatment.
|
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What are the treatments for lamellar ichthyosis ?
|
These resources address the diagnosis or management of lamellar ichthyosis: - Foundation for Ichthyosis and Related Skin Types (FIRST): Skin Care Tips - Gene Review: Gene Review: Autosomal Recessive Congenital Ichthyosis - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 3 - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 4A - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 5 - Genetic Testing Registry: Autosomal recessive congenital ichthyosis 8 - Genetic Testing Registry: Congenital ichthyosis of skin 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
|
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] |
What is (are) Dry Mouth ?
|
For information about the clinical trial on this topic, visit: http://www.clinicaltrials.gov/ct/show/NCT00372320?order=1. If you would like to read an interview with Dr. Bruce Baum, the study's principal investigator, click on: http://www.nidcr.nih.gov/Research/ ResearchResults/InterviewsOHR/TIS032007.htm.
|
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What causes Hypersensitivity Pneumonitis ?
|
Repeatedly breathing in foreign substances can cause hypersensitivity pneumonitis (HP). Examples of these substances include molds, dusts, and chemicals. (Mold often is the cause of HP.) These substances also are known as antigens.
Over time, your lungs can become sensitive to antigens. If this happens, your lungs will become inflamed, which can lead to symptoms and may even cause long-term lung damage.
Antigens may be found in the home, workplace, or in other settings. Antigens can come from many sources, such as:
Bird droppings
Humidifiers, heating systems, and hot tubs
Liquid chemicals used in the landscaping and florist industries
Moldy hay, straw, and grain
Chemicals released during the production of plastics and electronics, and chemicals released during painting
Mold released during lumber milling, construction, and wood stripping
|
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What are the symptoms of Thumb stiff brachydactyly mental retardation ?
|
What are the signs and symptoms of Thumb stiff brachydactyly mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Thumb stiff brachydactyly mental retardation. 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 metacarpal bones 90% Abnormality of the thumb 90% Cognitive impairment 90% Limitation of joint mobility 90% Obesity 50% Autosomal dominant inheritance - Intellectual disability - Type A1 brachydactyly - 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.
|
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Is Lynch syndrome inherited ?
|
Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.
|
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Who is at risk for Parasites - Zoonotic Hookworm? ?
|
Dog and cat hookworms are found throughout the world, especially in warmer climates. In the United States, zoonotic hookworms are found everywhere but more commonly along the East Coast than the West Coast. Worldwide, zoonotic hookworms are found in tropical and subtropical regions where the parasite is better able to survive because of environmental conditions. However, there is one type of dog and cat hookworm that is more commonly found in cooler climates.
The global burden of zoonotic hookworm in dogs and cats is not known; also, the amount of disease in people caused by these parasites is also unknown. Cutaneous larva migrans (CLM) is most often reported by returning travelers to tropical regions who have had soil and/or sand exposures in places where dogs and cats are likely to have hookworms. However, CLM is likely causing significant problems for the people who live in less developed parts of the world, even though the disease is not reported regularly. In less developed areas of the world, dogs and cats are often free-ranging and have high rates of infection with hookworm which leads to widespread contamination of sand and soil. In a survey of a rural population in Brazil, the prevalence of CLM during the rainy season was 14.9% among children less than 5 years old and 0.7% among adults aged 20 years and older.
|
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Is retinal arterial macroaneurysm with supravalvular pulmonic stenosis 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.
|
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What are the symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus ?
|
What are the signs and symptoms of Epiphyseal dysplasia multiple with early-onset diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia multiple with early-onset diabetes mellitus. 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 metaphyses 90% Short stature 90% Type II diabetes mellitus 90% Abnormality of immune system physiology 50% Abnormality of neutrophils 50% Acute hepatic failure 50% Brachydactyly syndrome 50% Chronic hepatic failure 50% Cognitive impairment 50% Delayed skeletal maturation 50% Elevated hepatic transaminases 50% Gait disturbance 50% Genu valgum 50% Hepatomegaly 50% Platyspondyly 50% Short thorax 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Exocrine pancreatic insufficiency 7.5% Hyperlordosis 7.5% Hypoglycemia 7.5% Hypothyroidism 7.5% Intrauterine growth retardation 7.5% Kyphosis 7.5% Microcephaly 7.5% Nephropathy 7.5% Recurrent fractures 7.5% Renal insufficiency 7.5% Seizures 7.5% Autosomal recessive inheritance - Barrel-shaped chest - Carpal bone hypoplasia - Cone-shaped epiphyses of the phalanges of the hand - Coxa valga - Depressed nasal bridge - Epiphyseal dysplasia - Flattened epiphysis - High palate - Hip dislocation - Hip Subluxation - Hypertelorism - Hypertonia - Hypoplasia of the odontoid process - Infantile onset - Insulin-resistant diabetes mellitus - Irregular carpal bones - Irregular tarsal ossification - Irregular vertebral endplates - Ivory epiphyses of the phalanges of the hand - Ivory epiphyses of the toes - Multiple epiphyseal dysplasia - Narrow iliac wings - Osteoporosis - Preauricular pit - Reduced pancreatic beta cells - Shortening of all middle phalanges of the fingers - Small epiphyses - Upslanted palpebral fissure - 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.
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] |
What are the treatments for Hemoglobin E disease ?
|
How might hemoglobin E disease be treated? Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life.
|
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What are the treatments for Hydrocephalus due to congenital stenosis of aqueduct of sylvius ?
|
How might hydrocephalus due to congenital stenosis of aqueduct of sylvius be treated? The treatment of hydrocephalus due to congenital stenosis of aqueduct of sylvius (HSAS) is based on the signs and symptoms present in each person. For example, hydrocephalus is typically treated with shunt surgery. Special education and early intervention may be recommended for children with intellectual disability. Although intervention is rarely necessary for adducted thumbs (bent towards the palms), tendon transfer surgery or splinting may be suggested in some cases.
|
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What are the treatments for Proteus syndrome ?
|
These resources address the diagnosis or management of Proteus syndrome: - Gene Review: Gene Review: Proteus Syndrome - Genetic Testing Registry: Proteus syndrome - Proteus Syndrome Foundation: Diagnostic Criteria and FAQs 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
|
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] |
What is the outlook for Arachnoid Cysts ?
|
Untreated, arachnoid cysts may cause permanent severe neurological damage when progressive expansion of the cyst(s) or bleeding into the cyst injures the brain or spinal cord. Symptoms usually resolve or improve with treatment.
|
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What is (are) GM1 gangliosidosis ?
|
GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types. The signs and symptoms of the most severe form of GM1 gangliosidosis, called type I or the infantile form, usually become apparent by the age of 6 months. Infants with this form of the disorder typically appear normal until their development slows and muscles used for movement weaken. Affected infants eventually lose the skills they had previously acquired (developmentally regress) and may develop an exaggerated startle reaction to loud noises. As the disease progresses, children with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly), skeletal abnormalities, seizures, profound intellectual disability, and clouding of the clear outer covering of the eye (the cornea). Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. In some cases, affected individuals have distinctive facial features that are described as "coarse," enlarged gums (gingival hypertrophy), and an enlarged and weakened heart muscle (cardiomyopathy). Individuals with GM1 gangliosidosis type I usually do not survive past early childhood. Type II GM1 gangliosidosis consists of intermediate forms of the condition, also known as the late infantile and juvenile forms. Children with GM1 gangliosidosis type II have normal early development, but they begin to develop signs and symptoms of the condition around the age of 18 months (late infantile form) or 5 years (juvenile form). Individuals with GM1 gangliosidosis type II experience developmental regression but usually do not have cherry-red spots, distinctive facial features, or enlarged organs. Type II usually progresses more slowly than type I, but still causes a shortened life expectancy. People with the late infantile form typically survive into mid-childhood, while those with the juvenile form may live into early adulthood. The third type of GM1 gangliosidosis is known as the adult or chronic form, and it represents the mildest end of the disease spectrum. The age at which symptoms first appear varies in GM1 gangliosidosis type III, although most affected individuals develop signs and symptoms in their teens. The characteristic features of this type include involuntary tensing of various muscles (dystonia) and abnormalities of the spinal bones (vertebrae). Life expectancy varies among people with GM1 gangliosidosis type III.
|
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What are the symptoms of Osteoporosis ?
|
Fractures -- A Possible Warning Sign Osteoporosis does not have any symptoms until a fracture occurs. Women and men with osteoporosis most often break bones in the hip, spine, and wrist. But any fracture in an older person could be a warning sign that the bone is weaker than optimal. Some people may be unaware that they have already experienced one or more spine fractures. Height loss of one inch or more may be the first sign that someone has experienced spine fractures due to osteoporosis. Multiple spine fractures can cause a curved spine, stooped posture, back pain, and back fatigue. Women and men who have had a fracture are at high risk of experiencing another one. A fracture over the age of 50 or several fractures before that age may be a warning sign that a person has already developed osteoporosis. People over the age of 50 who have experienced a fracture should talk to their doctor about getting evaluated for osteoporosis. Risk Factors for Fractures The more likely you are to fall, the higher your risk for a fracture. And more severe falls increase your risk for fractures. Factors that increase your risk of falling and of fracturing a bone include - decreased muscle strength - poor balance - impaired eyesight - impaired mental abilities - certain medications, such as tranquilizers and muscle relaxants - hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks. decreased muscle strength poor balance impaired eyesight impaired mental abilities certain medications, such as tranquilizers and muscle relaxants hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks. The angle at which you fall also affects your risk of fracture. Hip Fractures Although low bone mass (or low bone density) plays an important role in determining a person's risk of osteoporosis, it is only one of many risk factors for fractures. Various aspects of bone geometry, such as tallness, hip structure, and thighbone (femur) length, can also affect your chances of breaking a bone if you fall. Increasing age, too much weight loss, a history of fractures since age 50, having an existing spine fracture, and having a mother who fractured her hip all increase the risk of hip fracture regardless of a person's bone density. People with more risk factors have a higher chance of suffering a hip fracture.
|
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What are the symptoms of Pili torti ?
|
What are the signs and symptoms of Pili torti? The Human Phenotype Ontology provides the following list of signs and symptoms for Pili torti. 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) Coarse hair 90% Pili torti 90% Abnormality of dental enamel 50% Abnormality of the eyebrow 50% Abnormality of the nail 50% Alopecia 50% Hearing impairment 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Brittle hair - Dry hair - Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes - Hypoplasia of dental enamel - 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.
|
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How many people are affected by DMD-associated dilated cardiomyopathy ?
|
DMD-associated dilated cardiomyopathy appears to be an uncommon condition, although its prevalence is unknown.
|
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What are the symptoms of Colorectal Cancer ?
|
Possible signs of colorectal cancer include: - a change in the frequency of bowel movements - diarrhea, constipation, or feeling that the bowel does not empty completely - either bright red or very dark blood in the stool a change in the frequency of bowel movements diarrhea, constipation, or feeling that the bowel does not empty completely either bright red or very dark blood in the stool - stools that are narrower than usual - general abdominal discomfort such as frequent gas pains, bloating, fullness, and/or cramps - weight loss with no known reason - constant tiredness - vomiting stools that are narrower than usual general abdominal discomfort such as frequent gas pains, bloating, fullness, and/or cramps weight loss with no known reason constant tiredness vomiting
|
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What are the treatments for Olivopontocerebellar Atrophy ?
|
There is no specific treatmentfor OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. A physical therapist may be helpful in establishing a routine of exercise and stretching, and in obtaining devices or appliances to assist in walking and other daily activities.
|
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What are the treatments for Saethre-Chotzen syndrome ?
|
These resources address the diagnosis or management of Saethre-Chotzen syndrome: - Gene Review: Gene Review: Saethre-Chotzen Syndrome - Genetic Testing Registry: Robinow Sorauf syndrome - Genetic Testing Registry: Saethre-Chotzen syndrome - MedlinePlus Encyclopedia: Craniosynostosis - MedlinePlus Encyclopedia: Skull of a Newborn (image) 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
|
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What is the outlook for Empty Sella Syndrome ?
|
ESS is not a life-threatening condition. Most often, and particularly among those with primary ESS, the disorder does not cause health problems and does not affect life expectancy.
|
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What is (are) X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia ?
|
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types of immune system cells called T cells are reduced in number or do not function properly. Normally these cells recognize foreign invaders, such as viruses, bacteria, and fungi, and are then turned on (activated) to attack these invaders in order to prevent infection and illness. Because males with XMEN do not have enough functional T cells, they have frequent infections, such as ear infections, sinus infections, and pneumonia. In particular, affected individuals are vulnerable to the Epstein-Barr virus (EBV). EBV is a very common virus that infects more than 90 percent of the general population and in most cases goes unnoticed. Normally, after initial infection, EBV remains in the body for the rest of a person's life. However, the virus is generally inactive (latent) because it is controlled by T cells. In males with XMEN, however, the T cells cannot control the virus, and EBV infection can lead to cancers of immune system cells (lymphomas). The word "neoplasia" in the condition name refers to these lymphomas; neoplasia is a general term meaning abnormal growths of tissue. The EBV infection itself usually does not cause any other symptoms in males with XMEN, and affected individuals may not come to medical attention until they develop lymphoma.
|
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How many people are affected by spondyloenchondrodysplasia with immune dysregulation ?
|
SPENCDI appears to be a rare condition, although its prevalence is unknown.
|
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What are the genetic changes related to multiple sclerosis ?
|
Although the cause of multiple sclerosis is unknown, variations in dozens of genes are thought to be involved in multiple sclerosis risk. Changes in the HLA-DRB1 gene are the strongest genetic risk factors for developing multiple sclerosis. Other factors associated with an increased risk of developing multiple sclerosis include changes in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking. The HLA-DRB1 gene belongs 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). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Variations in several HLA genes have been associated with increased multiple sclerosis risk, but one particular variant of the HLA-DRB1 gene, called HLA-DRB1*15:01, is the most strongly linked genetic factor. The IL7R gene provides instructions for making one piece of two different receptor proteins: the interleukin 7 (IL-7) receptor and the thymic stromal lymphopoietin (TSLP) receptor. Both receptors are embedded in the cell membrane of immune cells. These receptors stimulate signaling pathways that induce the growth and division (proliferation) and survival of immune cells. The genetic variation involved in multiple sclerosis leads to production of an IL-7 receptor that is not embedded in the cell membrane but is instead found inside the cell. It is unknown if this variation affects the TSLP receptor. Because the HLA-DRB1 and IL-7R genes are involved in the immune system, changes in either might be related to the autoimmune response that damages the myelin sheath and nerve cells and leads to the signs and symptoms of multiple sclerosis. However, it is unclear exactly what role variations in either gene plays in development of the condition.
|
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Is isolated Pierre Robin sequence inherited ?
|
Isolated Pierre Robin sequence is usually not inherited. It typically results from new genetic changes and occurs in people with no history of the disorder in their family. When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the altered DNA in each cell is sufficient to cause the disorder.
|
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Do you have information about Artificial Limbs
|
Summary : People can lose all or part of an arm or leg for a number of reasons. Common ones include - Circulation problems from atherosclerosis or diabetes. They may cause you to need an amputation. - Traumatic injuries, including from traffic accidents and military combat - Cancer - Birth defects If you are missing an arm or leg, an artificial limb can sometimes replace it. The device, which is called a prosthesis, can help you to perform daily activities such as walking, eating, or dressing. Some artificial limbs let you function nearly as well as before.
|
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What are the treatments for Muckle-Wells syndrome ?
|
These resources address the diagnosis or management of Muckle-Wells syndrome: - Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness 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
|
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] |
What is the outlook for Carpal Tunnel Syndrome ?
|
In general, carpal tunnel syndrome responds well to treatment, but less than half of individuals report their hand(s) feeling completely normal following surgery. Some residual numbness or weakness is common. At work, people can perform stretching exercises, take frequent rest breaks, wear splints to keep wrists straight, and use correct posture and wrist position to help prevent or worsen symptoms. Wearing fingerless gloves can help keep hands warm and flexible.
|
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] |
What causes Mntriers Disease ?
|
Scientists are unsure about what causes Mntriers disease; however, researchers think that most people acquire, rather than inherit, the disease. In extremely rare cases, siblings have developed Mntriers disease as children, suggesting a genetic link.
Studies suggest that people with Mntriers disease have stomachs that make abnormally high amounts of a protein called transforming growth factor-alpha (TGF-).
TGF- binds to and activates a receptor called epidermal growth factor receptor. Growth factors are proteins in the body that tell cells what to do, such as grow larger, change shape, or divide to make more cells. Researchers have not yet found a cause for the overproduction of TGF-.
Some studies have found cases of people with Mntriers disease who also had Helicobacter pylori (H. pylori) infection. H. pylori is a bacterium that is a cause of peptic ulcers, or sores on the lining of the stomach or the duodenum, the first part of the small intestine. In these cases, treatment for H. pylori reversed and improved the symptoms of Mntriers disease.1
Researchers have linked some cases of Mntriers disease in children to infection with cytomegalovirus (CMV). CMV is one of the herpes viruses. This group of viruses includes the herpes simplex viruses, which cause chickenpox, shingles, and infectious mononucleosis, also known as mono. Most healthy children and adults infected with CMV have no symptoms and may not even know they have an infection. However, in people with a weakened immune system, CMV can cause serious disease, such as retinitis, which can lead to blindness.
Researchers are not sure how H. pylori and CMV infections contribute to the development of Mntriers disease.
|
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] |
How many people are affected by Glanzmann thrombasthenia ?
|
Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community.
|
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What are the treatments for Microscopic polyangiitis ?
|
What is the treatment for microscopic polyangiitis (MPA)? MPA is treated with medications that suppress the immune system, which can lower an individual's resistance to infections. There are a variety of immune suppressing medications that are used in MPA; however, resources state that a steroid (usually prednisone) and a medication toxic to cells (usually starting with cyclophosphamide) are typically prescribed first. The goal of treatment is to stop all of the organ damage that occurs as a result of MPA. The duration of treatment with immune suppressing medication varies between individuals, but is typically given for at least one to two years.
|
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What causes Congenital adrenal hyperplasia ?
|
What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene 11-beta-hydroxylase deficiency is caused by mutations in the CYP11B1 gene Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene 17-hydroxylase deficiency is caused by mutations in the CYP17A1 gene Congenital lipoid adrenal hyperplasia is caused by mutations in the STAR gene Most of these genes encode enzymes that the adrenal glands need to make one or more hormones. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in these genes lead to deficient levels of enzymes which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of CAH.
|
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What is (are) Lung Cancer ?
|
Key Points
- Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - Lung cancer is the leading cause of cancer death in the United States. - Different factors increase or decrease the risk of lung cancer.
Lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung.
The lungs are a pair of cone-shaped breathing organs inside the chest. The lungs bring oxygen into the body when breathing in and send carbon dioxide out of the body when breathing out. Each lung has sections called lobes. The left lung has two lobes. The right lung, which is slightly larger, has three. A thin membrane called the pleura surrounds the lungs. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes involved in lung cancer. Small tubes called bronchioles and tiny air sacs called alveoli make up the inside of the lungs. There are two types of lung cancer: small cell lung cancer and non-small cell lung cancer. See the following PDQ summaries for more information about lung cancer: - Lung Cancer Prevention - Non-Small Cell Lung Cancer Treatment - Small Cell Lung Cancer Treatment
Lung cancer is the leading cause of cancer death in the United States.
Lung cancer is the third most common type of non-skin cancer in the United States. Lung cancer is the leading cause of cancer death in men and in women.
|
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What is (are) short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay ?
|
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body. Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. Affected adults tend to have short stature compared with others in their family. Many have a lack of fatty tissue under the skin (lipoatrophy), primarily in the face, arms, and chest. This lack of fat, together with thin, wrinkled skin and veins visible beneath the skin, makes affected individuals look older than their biological age. This appearance of premature aging is sometimes described as progeroid. Most people with SHORT syndrome have distinctive facial features. These include a triangular face shape with a prominent forehead and deep-set eyes (ocular depression), thin nostrils, a downturned mouth, and a small chin. Eye abnormalities are common in affected individuals, particularly Rieger anomaly, which affects structures at the front of the eye. Rieger anomaly can be associated with increased pressure in the eye (glaucoma) and vision loss. Some people with SHORT syndrome also have dental abnormalities such as delayed appearance (eruption) of teeth in early childhood, small teeth, fewer teeth than normal (hypodontia), and a lack of protective covering (enamel) on the surface of the teeth. Other signs and symptoms that have been reported in people with SHORT syndrome include immune system abnormalities, a kidney disorder known as nephrocalcinosis, hearing loss, loose (hyperextensible) joints, and a soft out-pouching in the lower abdomen called an inguinal hernia. A few affected individuals have developed problems with blood sugar regulation including insulin resistance and diabetes. Most people with SHORT syndrome have normal intelligence, although a few have been reported with mild cognitive impairment or delayed development of speech in childhood.
|
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How many people are affected by Jackson-Weiss syndrome ?
|
Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.
|
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Is Juvenile Huntington disease inherited ?
|
How is Juvenile Huntington disease (HD) inherited? Juvenile HD is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms (anticipation). A larger number of repeats is usually associated with an earlier onset of signs and symptoms. Most often, children with juvenile HD inherit the expanded CAG trinucleotide repeat from their fathers, although on occasion they inherit it from their mothers.
|
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What is (are) Lactose Intolerance ?
|
Lactose intolerance means that you cannot digest foods with lactose in them. Lactose is the sugar found in milk and foods made with milk. After eating foods with lactose in them, you may feel sick to your stomach. You may also have - Gas - Diarrhea - Swelling in your stomach Your doctor may do a blood, breath or stool test to find out if your problems are due to lactose intolerance. Lactose intolerance is not serious. Eating less food with lactose, or using pills or drops to help you digest lactose usually helps. You may need to take a calcium supplement if you don't get enough of it from your diet, since milk and foods made with milk are the most common source of calcium for most people. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
|
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What are the treatments for Hemorrhoids ?
|
At-home Treatments
Simple diet and lifestyle changes often reduce the swelling of hemorrhoids and relieve hemorrhoid symptoms. Eating a high-fiber diet can make stools softer and easier to pass, reducing the pressure on hemorrhoids caused by straining.
Fiber is a substance found in plants. The human body cannot digest fiber, but fiber helps improve digestion and prevent constipation. Good sources of dietary fiber are fruits, vegetables, and whole grains. On average, Americans eat about 15 grams of fiber each day.3 The American Dietetic Association recommends 25 grams of fiber per day for women and 38 grams of fiber per day for men.3
Doctors may also suggest taking a bulk stool softener or a fiber supplement such as psyllium (Metamucil) or methylcellulose (Citrucel).
Other changes that may help relieve hemorrhoid symptoms include
- drinking six to eight 8-ounce glasses of water or other nonalcoholic fluids each day - sitting in a tub of warm water for 10 minutes several times a day - exercising to prevent constipation - not straining during bowel movements
Over-the-counter creams and suppositories may temporarily relieve the pain and itching of hemorrhoids. These treatments should only be used for a short time because long-term use can damage the skin.
Medical Treatment
If at-home treatments do not relieve symptoms, medical treatments may be needed. Outpatient treatments can be performed in a doctor's office or a hospital. Outpatient treatments for internal hemorrhoids include the following:
- Rubber band ligation. The doctor places a special rubber band around the base of the hemorrhoid. The band cuts off circulation, causing the hemorrhoid to shrink. This procedure should be performed only by a doctor. - Sclerotherapy. The doctor injects a chemical solution into the blood vessel to shrink the hemorrhoid. - Infrared coagulation. The doctor uses heat to shrink the hemorrhoid tissue.
Large external hemorrhoids or internal hemorrhoids that do not respond to other treatments can be surgically removed.
|
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How to diagnose Creutzfeldt-Jakob disease ?
|
How is Creutzfeldt-Jakob disease diagnosed? There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will be performed and the doctor may seek consultation with other physicians. Standard diagnostic tests will include a spinal tap to rule out more common causes of dementia and an electroencephalogram (EEG) to record the brains electrical pattern, which can be particularly valuable because it shows a specific type of abnormality in CJD. Computerized tomography of the brain can help rule out the possibility that the symptoms result from other problems such as stroke or a brain tumor. Magnetic resonance imaging (MRI) brain scans also can reveal characteristic patterns of brain degeneration that can help diagnose CJD. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the patients brain so that it can be examined by a neuropathologist. This procedure may be dangerous for the patient, and the operation does not always obtain tissue from the affected part of the brain. Because a correct diagnosis of CJD does not help the patient, a brain biopsy is discouraged unless it is needed to rule out a treatable disorder. In an autopsy, the whole brain is examined after death. Scientists are working to develop laboratory tests for CJD. One such test, developed at the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH), studies a person's cerebrospinal fluid to see of it contains a protein marker that indicates neuronal degeneration.This can help to diagnose CJD in people who already show the clinical symptoms of the disease. This test is much easier and safer than a brain biopsy. The false positive rate is about 5 to 10 percent. Scientists are working to develop this test for use in commercial laboratories. They are also working to develop other tests for this disorder.
|
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What are the treatments for Tardive Dyskinesia ?
|
Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substitute drugs may help some individuals. The only approved drug treatment for tardive dyskenesia is tetrabenazine, which is usually effective but can have side effects that need to be discussed prior to starting therapy. Other drugs such as benzodiazepines, clozapine, or botulinum toxin injections also may be tried.
|
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What is (are) Neurofibromatosis ?
|
The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. There are three forms of neurofibromatosis (NF):
- NF1 is the more common type of the disorder. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia. - NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, which are called vestibular schwannomas or acoustic neuromas.. The tumors press on and damage neighboring nerves and reduce hearing. - The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes.
|
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How to diagnose Imerslund-Grasbeck syndrome ?
|
How is Imerslund-Grasbeck syndrome diagnosed? The diagnosis of Imerslund-Grasbeck syndrome (IGS) is made after a series of tests are performed. Cobalamin deficiency is typically detected first, followed by showing that cobalamin is poorly absorbed (the main cause of cobalamin deficiency). Other known causes of vitamin B12 malabsorption must then be ruled out. Lastly, it must be shown that after correcting the deficiency, the only nutrient to be poorly absorbed is vitamin B12. The diagnosis can also be confirmed by having genetic testing of the genes that are known to cause the condition. While the presence of proteinuria is strongly suggestive of IGS, not all affected individuals have proteinuria.
|
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What are the symptoms of Bardet-Biedl syndrome 6 ?
|
What are the signs and symptoms of Bardet-Biedl syndrome 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 6. 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 kidney 95% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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.
|
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253,
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390,
19831,
778,
320,
7520,
390,
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15
] |
How many people are affected by multiminicore disease ?
|
Multiminicore disease is thought to be a rare disorder, although its incidence is unknown.
|
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] |
[
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1,
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[
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] |
what is yersiniosis for Yersinia ?
|
Yersiniosis is an infectious disease caused by a bacterium of the genus Yersinia. In the United States, most human illness is caused by one species, Y. enterocolitica. Infection with Y. enterocolitica can cause a variety of symptoms depending on the age of the person infected. Infection with Y. enterocolitica occurs most often in young children. Common symptoms in children are fever, abdominal pain, and diarrhea, which is often bloody. Symptoms typically develop 4 to 7 days after exposure and may last 1 to 3 weeks or longer. In older children and adults, right-sided abdominal pain and fever may be the predominant symptoms, and may be confused with appendicitis. In a small proportion of cases, complications such as skin rash, joint pains, or spread of bacteria to the bloodstream can occur.
|
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31991,
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390,
5195,
273,
9574,
281,
253,
2614,
4963,
476,
2826,
15
] |
How many people are affected by Alpers-Huttenlocher syndrome ?
|
The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in 100,000 individuals.
|
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1,
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337,
275,
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13,
933,
4292,
15
] |
What is (are) Cough ?
|
Coughing is a reflex that keeps your throat and airways clear. Although it can be annoying, coughing helps your body heal or protect itself. Coughs can be either acute or chronic. Acute coughs begin suddenly and usually last no more than 2 to 3 weeks. Acute coughs are the kind you most often get with a cold, flu, or acute bronchitis. Chronic coughs last longer than 2 to 3 weeks. Causes of chronic cough include - Chronic bronchitis - Asthma - Allergies - COPD (chronic obstructive pulmonary disease) - GERD (gastroesophageal reflux disease) - Smoking - Throat disorders, such as croup in young children - Some medicines Water can help ease your cough - whether you drink it or add it to the air with a steamy shower or vaporizer. If you have a cold or the flu, antihistamines may work better than non-prescription cough medicines. Children under four should not have cough medicine. For children over four, use caution and read labels carefully.
|
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13301,
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15
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] |
What causes Pulmonary Hypertension ?
|
Pulmonary hypertension (PH) begins with inflammation and changes in the cells that line your pulmonary arteries. Other factors also can affect the pulmonary arteries and cause PH. For example, the condition may develop if:
The walls of the arteries tighten.
The walls of the arteries are stiff at birth or become stiff from an overgrowth of cells.
Blood clots form in the arteries.
These changes make it hard for your heart to push blood through your pulmonary arteries and into your lungs. Thus, the pressure in the arteries rises, causing PH.
Many factors can contribute to the process that leads to the different types of PH.
Group 1 pulmonary arterial hypertension (PAH) may have no known cause, or the condition may be inherited. ("Inherited" means the condition is passed from parents to children through genes.)
Some diseases and conditions also can cause group 1 PAH. Examples include HIV infection, congenital heart disease, and sickle cell disease. Also, the use of street drugs (such as cocaine) and certain diet medicines can lead to PAH.
Many diseases and conditions can cause groups 2 through 5 PH (often called secondary PH), including:
Mitral valve disease
Lung diseases, such as COPD (chronic obstructive pulmonary disease)
Sleep apnea
Sarcoidosis
For more information about the types of PH and the diseases, conditions, and factors that can cause them, go to "Types of Pulmonary Hypertension."
|
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Who is at risk for Diabetic Retinopathy? ?
|
All people with diabetes -- both type 1 and type 2 -- are at risk for diabetic retinopathy. People with diabetes are also at increased risk for cataract and glaucoma. That's why everyone with diabetes should get a comprehensive dilated eye exam at least once a year. Between 40 to 45 percent of Americans diagnosed with diabetes have some stage of diabetic retinopathy. If you have diabetic retinopathy, your doctor can recommend treatment to help prevent its progression. See how to find an eye care professional.
|
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What is (are) Creating a Family Health History ?
|
Common health problems that can run in a family include - Alzheimer's disease/dementia - arthritis - asthma - blood clots - cancer - depression - diabetes - heart disease - high cholesterol - high blood pressure - pregnancy losses and birth defects - stroke. Alzheimer's disease/dementia arthritis asthma blood clots cancer depression diabetes heart disease high cholesterol high blood pressure pregnancy losses and birth defects stroke. Learn more about the importance of family history in some of these health problems at Diseases, Genetics and Family History. (Center for Disease Control and Prevention)
|
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What are the symptoms of X-linked Charcot-Marie-Tooth disease type 5 ?
|
What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 5. 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) Decreased nerve conduction velocity 90% Hearing impairment 90% Optic atrophy 90% Pes cavus 90% Impaired pain sensation 50% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Areflexia of lower limbs - Childhood onset - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Motor delay - Onion bulb formation - Progressive visual loss - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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] |
What are the treatments for Gas in the Digestive Tract ?
|
Gas can be treated by reducing swallowed air, making dietary changes, or taking over-the-counter or prescription medications. People who think they have too much gas can try to treat gas on their own before seeing a health care provider. Health care providers can provide advice about reducing gas and prescribe medications that may help.
Reducing swallowed air. Swallowing less air may help reduce gas, especially for people who burp frequently. A health care provider may suggest eating more slowly, avoiding gum and hard candies, or checking with a dentist to make sure dentures fit correctly.
Making dietary changes. People may be able to reduce gas by eating less of the foods that cause gas. However, many healthy foods may cause gas, such as fruits and vegetables, whole grains, and milk products. The amount of gas caused by certain foods varies from person to person. Effective dietary changes depend on learning through trial and error which foods cause a person to have gas and how much of the offending foods one can handle.
While fat does not cause gas, limiting high-fat foods can help reduce bloating and discomfort. Less fat in the diet helps the stomach empty faster, allowing gases to move more quickly into the small intestine.
Taking over-the-counter medications. Some over-the-counter medications can help reduce gas or the symptoms associated with gas:
- Alpha-galactosidase (Beano), an over-the-counter digestive aid, contains the sugar-digesting enzyme that the body lacks to digest the sugar in beans and many vegetables. The enzyme comes in liquid and tablet form. Five drops are added per serving or one tablet is swallowed just before eating to break down the gas-producing sugars. Beano has no effect on gas caused by lactose or fiber. - Simethicone (Gas-X, Mylanta Gas) can relieve bloating and abdominal pain or discomfort caused by gas. - Lactase tablets or drops can help people with lactose intolerance digest milk and milk products to reduce gas. Lactase tablets are taken just before eating foods that contain lactose; lactase drops can be added to liquid milk products. Lactose-free and lactose-reduced milk and milk products are available at most grocery stores.
Taking prescription medications. Health care providers may prescribe medications to help reduce symptoms, especially for people with small intestinal bacterial overgrowth or IBS. More information about IBS is provided in the NIDDK health topic, Irritable Bowel Syndrome fact sheet.
|
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] |
What is (are) Weaver syndrome ?
|
Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma. Weaver syndrome is usually caused by changes (mutations) in the EZH2 gene. Although the condition is considered autosomal dominant, most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
|
[
1276,
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What are the genetic changes related to X-linked creatine deficiency ?
|
Mutations in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 gene provides instructions for making a protein that transports the compound creatine into cells. Creatine is needed for the body to store and use energy properly. SLC6A8 gene mutations impair the ability of the transporter protein to bring creatine into cells, resulting in a creatine shortage (deficiency). The effects of creatine deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.
|
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How many people are affected by epidermolytic hyperkeratosis ?
|
Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 people worldwide.
|
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How to diagnose Desmoplastic infantile ganglioglioma ?
|
How are desmoplastic infantile gangliomas diagnosed? In addition to detecting the signs and symptoms commonly seen in DIGs, head CT scans and MRIs may reveal the presence of this type of brain tumor.
|
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What are the symptoms of Pinheiro Freire-Maia Miranda syndrome ?
|
What are the signs and symptoms of Pinheiro Freire-Maia Miranda syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pinheiro Freire-Maia Miranda 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) Abnormal hair quantity 90% Abnormality of dental morphology 90% Abnormality of the eyelashes 90% Fine hair 90% Reduced number of teeth 90% Delayed eruption of teeth 50% Hyperlordosis 50% Increased number of teeth 50% Palmoplantar keratoderma 50% Scoliosis 50% Sparse lateral eyebrow 50% Abnormality of female internal genitalia 7.5% Abnormality of the hip bone 7.5% Adenoma sebaceum 7.5% Cafe-au-lait spot 7.5% Hypermetropia 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.
|
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] |
What are the symptoms of Testicular cancer ?
|
What are the signs and symptoms of Testicular cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Testicular cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Cryptorchidism - Gonadal dysgenesis - Sporadic - Teratoma - 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.
|
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778,
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7520,
390,
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15
] |
Is Donnai-Barrow syndrome inherited ?
|
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In almost all cases, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition. One individual with Donnai-Barrow syndrome was found to have inherited both copies of the mutated gene from his father as a result of a genetic change called uniparental disomy (UPD). UPD occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development.
|
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What is (are) multiple epiphyseal dysplasia ?
|
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood. Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.
|
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15
] |
What are the symptoms of Tricho-dento-osseous syndrome ?
|
What are the signs and symptoms of Tricho-dento-osseous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tricho-dento-osseous 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 dental color 90% Abnormality of dental enamel 90% Craniofacial hyperostosis 90% Frontal bossing 90% Increased bone mineral density 90% Taurodontia 90% Woolly hair 90% Abnormality of frontal sinus 50% Abnormality of the fingernails 50% Abnormality of the ulna 50% Aplasia/Hypoplasia of the radius 50% Carious teeth 50% Delayed eruption of teeth 50% Delayed skeletal maturation 50% Dolichocephaly 50% Malar prominence 50% Round face 50% Abnormality of the hair - Abnormality of the mastoid - Autosomal dominant inheritance - Fragile nails - Microdontia - Widely spaced teeth - 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.
|
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7520,
390,
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] |
What is (are) Proud syndrome ?
|
Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
|
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] |
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] |
What is (are) Inclusion body myositis ?
|
Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. This condition affects both the proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. There is currently no effective treatment for IBM. The cause is unclear in most cases, but it can sometimes be inherited.
|
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] |
How many people are affected by Muenke syndrome ?
|
Muenke syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis.
|
[
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2219,
273,
29358,
3783,
1362,
493,
2433,
15
] |
What is (are) Pyelonephritis: Kidney Infection ?
|
Pyelonephritis is a type of urinary tract infection (UTI) that affects one or both kidneys.
|
[
1276,
310,
313,
609,
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8462,
293,
531,
545,
13825,
27,
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5066,
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3329,
42,
10,
326,
11852,
581,
390,
1097,
33193,
15
] |
[
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
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1,
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1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1,
1
] |
[
1276,
310,
313,
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10,
8462,
293,
531,
545,
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27,
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2191,
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273,
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10649,
5066,
313,
3329,
42,
10,
326,
11852,
581,
390,
1097,
33193,
15
] |
How many people are affected by PPM-X syndrome ?
|
The prevalence of PPM-X syndrome is unknown.
|
[
2347,
1142,
952,
403,
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407,
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367,
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14,
57,
9237,
310,
7202,
15
] |
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What is (are) Sandhoff Disease ?
|
Sandhoff disease is a rare, inherited lipid storage disorder that progressively destroys nerve cells in the brain and spinal cord. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the harmful accumulation of certain fats (lipids) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease, the incidence of which had been particularly high in people of Eastern European and Ashkenazi Jewish descent, but Sandhoff disease is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include progressive nervous system deterioration, problems initiating and controlling muscles and movement, increased startle reaction to sound, early blindness, seizures, spasticity (non-voluntary and awkward movement), and myoclonus (shock-like contractions of a muscle. Other symptoms may include macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. Each parent must carry the defective gene and pass it on to the child. Individuals who carry only one copy of the mutated gene typically do not show signs and symptoms of the disorder.
|
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Is Imerslund-Grsbeck 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.
|
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What are the genetic changes related to Donohue syndrome ?
|
Donohue syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions. The INSR gene mutations that cause Donohue syndrome greatly reduce the number of insulin receptors that reach the cell membrane or disrupt the function of these receptors. Although insulin is present in the bloodstream, without functional receptors it cannot exert its effects on cells and tissues. This severe resistance to the effects of insulin impairs blood sugar regulation and affects many aspects of development in people with Donohue syndrome.
|
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What is (are) Gangliocytoma ?
|
Gangliocytoma is a rare type of central nervous system (CNS) tumor made up of mature neurons. Gangliocytomas may occur in all age groups but most often occur in people between the ages of 10 and 30. The most common site is the temporal lobe of the brain, but they can arise anywhere in the CNS including the cerebellum, brainstem, floor of the third ventricle, and spinal cord. They are among the most frequent tumors associated with epilepsy. Signs and symptoms may depend on the tumor's location and may include seizures (most commonly); increased brain pressure; endocrine disorders; and focal symptoms. Gangliocytomas are generally slow-growing and usually do not become malignant. Treatment involves surgical removal of the tumor. Click here to view a separate page about dysplastic gangliocytoma of the cerebellum (also called Lhermitte-Duclose disease).
|
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What is (are) Simpson-Golabi-Behmel syndrome ?
|
Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. The most severe cases are life-threatening before birth or in infancy, whereas people with milder cases often live into adulthood. People with Simpson-Golabi-Behmel syndrome have distinctive facial features including widely spaced eyes (ocular hypertelorism), an unusually large mouth (macrostomia), a large tongue (macroglossia) that may have a deep groove or furrow down the middle, a broad nose with an upturned tip, and abnormalities affecting the roof of the mouth (the palate). The facial features are often described as "coarse" in older children and adults with this condition. Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. Affected infants may be born with one or more extra nipples, an abnormal opening in the muscle covering the abdomen (diastasis recti), a soft out-pouching around the belly-button (an umbilical hernia), or a hole in the diaphragm (a diaphragmatic hernia) that allows the stomach and intestines to move into the chest and crowd the developing heart and lungs. Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this condition have mild to severe intellectual disability, while others have normal intelligence. About 10 percent of people with Simpson-Golabi-Behmel syndrome develop cancerous or noncancerous tumors in early childhood. The most common tumors are a rare form of kidney cancer called Wilms tumor and a cancerous tumor called a neuroblastoma that arises in developing nerve cells.
|
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Who is at risk for Aneurysm? ?
|
Certain factors put you at higher risk for an aortic aneurysm. These factors include:
Male gender. Men are more likely than women to have aortic aneurysms.
Age. The risk for abdominal aortic aneurysms increases as you get older. These aneurysms are more likely to occur in people who are aged 65 or older.
Smoking. Smoking can damage and weaken the walls of the aorta.
A family history of aortic aneurysms. People who have family histories of aortic aneurysms are at higher risk for the condition, and they may have aneurysms before the age of 65.
A history of aneurysms in the arteries of the legs.
Certain diseases and conditions that weaken the walls of the aorta. Examples include high blood pressure and atherosclerosis.
Having a bicuspid aortic valve can raise the risk of having a thoracic aortic aneurysm. A bicuspid aortic valve has two leaflets instead of the typical three.
Car accidents or trauma also can injure the arteries and increase the risk for aneurysms.
If you have any of these risk factors, talk with your doctor about whether you need screening for aneurysms.
|
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How many people are affected by fragile X-associated primary ovarian insufficiency ?
|
An estimated 1 in 200 females has the genetic change that leads to FXPOI, although only about a quarter of them develop the condition. FXPOI accounts for about 4 to 6 percent of all cases of primary ovarian insufficiency in women.
|
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What are the genetic changes related to succinic semialdehyde dehydrogenase deficiency ?
|
Mutations in the ALDH5A1 gene cause succinic semialdehyde dehydrogenase deficiency. The ALDH5A1 gene provides instructions for producing the succinic semialdehyde dehydrogenase enzyme. This enzyme is involved in the breakdown of a chemical that transmits signals in the brain (neurotransmitter) called gamma-amino butyric acid (GABA). The primary role of GABA is to prevent the brain from being overloaded with too many signals. A shortage (deficiency) of succinic semialdehyde dehydrogenase leads to an increase in the amount of GABA and a related molecule called gamma-hydroxybutyrate (GHB) in the body, particularly the brain and spinal cord (central nervous system). It is unclear how an increase in GABA and GHB causes developmental delay, seizures, and other signs and symptoms of succinic semialdehyde dehydrogenase deficiency.
|
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Do you have information about Traveler's Health
|
Summary : Traveling can increase your chances of getting sick. A long flight can increase your risk for deep vein thrombosis. Once you arrive, it takes time to adjust to the water, food, and air in another place. Water in developing countries can contain viruses, bacteria, and parasites that cause stomach upset and diarrhea. Be safe by using only bottled or purified water for drinking, making ice cubes, and brushing your teeth. If you use tap water, boil it or use iodine tablets. Food poisoning can also be a risk. Eat only food that is fully cooked and served hot. Avoid unwashed or unpeeled raw fruits and vegetables. If you are traveling out of the country, you might also need vaccinations or medicines to prevent specific illnesses. Which ones you need will depend on what part of the world you're visiting, the time of year, your age, overall health status, and previous immunizations. See your doctor 4 to 6 weeks before your trip. Most vaccines take time to become effective. Centers for Disease Control and Prevention
|
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Is incontinentia pigmenti inherited ?
|
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of IKBKG protein and other cells produce none. The resulting imbalance in cells producing this protein leads to the signs and symptoms of incontinentia pigmenti. In males (who have only one X chromosome), most IKBKG mutations result in a total loss of the IKBKG protein. A lack of this protein appears to be lethal early in development, so few males are born with incontinentia pigmenti. Affected males who survive may have an IKBKG mutation with relatively mild effects, an IKBKG mutation in only some of the body's cells (mosaicism), or an extra copy of the X chromosome in each cell. Some people with incontinentia pigmenti inherit an IKBKG 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.
|
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What is (are) Proteinuria ?
|
Proteinuriaalso called albuminuria or urine albuminis a condition in which urine contains an abnormal amount of protein. Albumin is the main protein in the blood. Proteins are the building blocks for all body parts, including muscles, bones, hair, and nails. Proteins in the blood also perform a number of important functions. They protect the body from infection, help blood clot, and keep the right amount of fluid circulating throughout the body.
As blood passes through healthy kidneys, they filter out the waste products and leave in the things the body needs, like albumin and other proteins. Most proteins are too big to pass through the kidneys' filters into the urine. However, proteins from the blood can leak into the urine when the filters of the kidney, called glomeruli, are damaged.
Proteinuria is a sign of chronic kidney disease (CKD), which can result from diabetes, high blood pressure, and diseases that cause inflammation in the kidneys. For this reason, testing for albumin in the urine is part of a routine medical assessment for everyone. Kidney disease is sometimes called renal disease. If CKD progresses, it can lead to end-stage renal disease (ESRD), when the kidneys fail completely. A person with ESRD must receive a kidney transplant or regular blood-cleansing treatments called dialysis.
|
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Do you have information about Caregivers
|
Summary : Caregivers provide help to another person in need. The person receiving care may be an adult - often a parent or a spouse - or a child with special medical needs. Some caregivers are family members. Others are paid. They do many things: - Shop for food and cook - Clean the house - Pay bills - Give medicine - Help the person go to the toilet, bathe and dress - Help the person eat - Provide company and emotional support Caregiving is hard, and caregivers of chronically ill people often feel stress. They are "on call" 24 hours a day, 7 days a week. If you're caring for someone with mental problems like Alzheimer's disease it can be especially difficult. Support groups can help. Dept. of Health and Human Services Office on Women's Health
|
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