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Summary : Magnetic resonance imaging (MRI) uses a large magnet and radio waves to look at organs and structures inside your body. Health care professionals use MRI scans to diagnose a variety of conditions, from torn ligaments to tumors. MRIs are very useful for examining the brain and spinal cord. During the scan, you lie on a table that slides inside a tunnel-shaped machine. Doing the scan can take a long time, and you must stay still. The scan is painless. The MRI machine makes a lot of noise. The technician may offer you earplugs. Before you get a scan, tell your doctor if you - Are pregnant - Have pieces of metal in your body. You might have metal in your body if you have a shrapnel or bullet injury or if you are a welder. - Have metal or electronic devices in your body, such as a cardiac pacemaker or a metal artificial joint
How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year.
Summary : Going home with a new baby is exciting, but it can be scary, too. Newborns have many needs, like frequent feedings and diaper changes. Babies can have health issues that are different from older children and adults, like diaper rash and cradle cap. Your baby will go through many changes during the first year of life. You may feel uneasy at first. Ask your health care provider for help if you need it.
Rubella is an infection caused by a virus. It is usually mild with fever and a rash. About half of the people who get rubella do not have symptoms. If you do get them, symptoms may include - A rash that starts on the face and spreads to the body - Mild fever - Aching joints, especially in young women - Swollen glands Rubella is most dangerous for a pregnant woman's baby. It can cause miscarriage or birth defects. Rubella spreads when an infected person coughs or sneezes. People without symptoms can still spread it. There is no treatment, but the measles-mumps-rubella (MMR) vaccine can prevent it. Centers for Disease Control and Prevention
What causes erythromelalgia? About 15% of cases of erythromelalgia are caused by mutations in the SCN9A gene. The SCN9A gene gives instructions for making part of a sodium channel which carries sodium into cells and helps them make and transmit electrical signals. These sodium channels are found in nerve cells that transmit pain signals to the spine and brain. Mutations that cause erythromelalgia cause increased transmission of pain signals, leading to the signs and symptoms of the condition. In some of these cases, an affected individual inherits the mutation from an affected parent. In other cases, a new mutation occurs for the first time in an individual with no history of the condition in the family. In the remainder of cases, the exact underlying cause is not currently known. Evidence suggests that it results from abnormalities in the normal narrowing and widening of certain blood vessels, leading to abnormalities in blood flow to the hands and feet. There may be a variety of non-genetic causes, or mutations in other genes that have not yet been identified.
The worldwide prevalence of sporadic hemiplegic migraine is unknown. Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic migraine and that the condition occurs equally in families with multiple affected individuals (familial hemiplegic migraine) and in individuals with no family history of the condition (sporadic hemiplegic migraine).
People with very weak immune (body defense) systems are at risk for getting nocardiosis. Several diseases and circumstances can cause the immune system to be weak. These include: - Diabetes - Cancer - HIV/AIDS - Pulmonary alveolar proteinosis (an illness that causes the air sacs of the lungs to become plugged) - Connective tissue disorder (a disease that affects the tissue that connects and supports different parts of the body) - Alcoholism - Having a bone marrow or solid organ transplant - Taking high doses of drugs called corticosteroids In the United States, it has been estimated that 500-1,000 new cases of nocardiosis infection occur every year. Approximately 60% of nocardiosis cases are associated with pre-existing immune compromise. In addition, men have a greater risk of getting the infection than women; for every female who gets sick with nocardiosis, there are about 3 males who get the disease.
What are the signs and symptoms of Optic atrophy 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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) Autosomal recessive inheritance - Infantile onset - Optic atrophy - Photophobia - Red-green dyschromatopsia - Slow progression - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Midphalangeal hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Midphalangeal hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hair - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Types I, II, III, and IV spinal muscular atrophy are inherited in an autosomal recessive pattern, which means both copies of the SMN1 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. Extra copies of the SMN2 gene are due to a random error when making new copies of DNA (replication) in an egg or sperm cell or just after fertilization. SMA-LED and the late-onset form of spinal muscular atrophy caused by VAPB gene mutations are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. X-linked spinal muscular atrophy is inherited in an X-linked pattern. The UBA1 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern.
How is tetra-amelia syndrome diagnosed? The diagnosis of tetra-amelia syndrome can be established clinically (based on observed features) and is usually made on a routine prenatal ultrasound. The WNT3 gene has been associated with tetra-amelia syndrome, but the mutation detection frequency (how often a mutation will be found in an affected individual) is unknown because only a limited number of families have been studied. Is genetic testing available for tetra-amelia syndrome? Genetic testing for tetra-amelia syndrome is currently available. GeneTests lists the names of laboratories that are performing genetic testing for tetra-amelia syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
This condition is reported to have an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, some people with only one SERPINA6 gene mutation may have symptoms such as fatigue or chronic pain. Alternatively, individuals with two SERPINA6 gene mutations may not have any features of the disorder. It is unclear why some people with mutations have features of the disorder and others do not.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support research on APS through grants to major medical institutions across the country.NINDS-funded research is looking at ways to reduce clotting and prevent stroke. Among other NIH-funded research efforts, scientists are examining the role of antiphospholipid antibodies in clotting and pregnancy loss, which is commonly seen in individuals with lupus. Another project hopes to identify potential inherited risk factors for the development of APS.
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.
AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it affects the inner lining of the rectum only, involves the whole rectum, or has spread to lymph nodes, nearby organs, or other places in the body). - Whether the tumor has spread into or through the bowel wall. - Where the cancer is found in the rectum. - Whether the bowel is blocked or has a hole in it. - Whether all of the tumor can be removed by surgery. - The patients general health. - Whether the cancer has just been diagnosed or has recurred (come back).
How might renal nutcracker syndrome be treated? Treatment of renal nutcracker syndrome is based on severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome. Adults with mild cases and affected children may be treated conservatively with regular surveillance. People younger than 18 years, specifically, are often observed for at least 2 years because as many as 75% will have complete resolution of symptoms without any significant intervention. ACE inhibitors may be effective in treating orthostatic proteinuria. In those with severe symptoms who do not respond to more conservative treatments, surgery is often recommended.
Treatment involves eliminating or reducing exposure to the toxic substance, followed by symptomatic and supportive therapy.
Asthma is a breathing disorder that affects the airways. People with this condition experience recurrent swelling and narrowing of the airways of the lungs which is associated with wheezing, shortness of breath, chest tightness, and coughing. Most affected people have episodes of symptoms ("asthma attacks") followed by symptom-free periods; however, some may experience persistent shortness of breath in between attacks. Asthma is considered a complex or multifactorial condition that is likely due to a combination of multiple genetic, environmental, and lifestyle factors. Many people with asthma have a personal or family history of allergies, such as hay fever or eczema. Having a family member with asthma is associated with an increased risk of developing the condition. Treatment generally includes various medications, both to prevent asthma attacks and to provide quick relief during an attack.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Can septo-optic dysplasia be cured? There is no cure for septo-optic dysplasia. Treatment is symptomatic. Hormone deficiencies may be treated with hormone replacement therapy. The optical problems are generally not treatable. Vision, physical, and occupational therapies may be required.
Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). Individuals with Brooke-Spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.
The prevalence of CASK-related intellectual disability is unknown. More than 50 females with MICPCH have been described in the medical literature, while only a few affected males have been described. By contrast, more than 20 males but only a few females have been diagnosed with the milder form of the disorder, XL-ID with or without nystagmus. This form of the disorder may go unrecognized in mildly affected females.
The pain of a migraine headache is often described as an intense pulsing or throbbing pain in one area of the head. However, it is much more; the International Headache Society diagnoses a migraine by its pain and number of attacks (at least 5, lasting 4-72 hours if untreated), and additional symptoms including nausea and/or vomiting, or sensitivity to both light and sound. Migraine is three times more common in women than in men and affects more than 10 percent of people worldwide. Roughly one-third of affected individuals can predict the onset of a migraine because it is preceded by an "aura," visual disturbances that appear as flashing lights, zig-zag lines or a temporary loss of vision. People with migraine tend to have recurring attacks triggered by a number of different factors, including stress, anxiety, hormonal changes, bright or flashing lights, lack of food or sleep, and dietary substances. Migraine in some women may relate to changes in hormones and hormonal levels during their menstrual cycle. For many years, scientists believed that migraines were linked to the dilation and constriction of blood vessels in the head. Investigators now believe that migraine has a genetic cause.
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath. Blebs may be present on an individual's lung (or lungs) for a long time before they rupture. Many things can cause a bleb to rupture, such as changes in air pressure or a very sudden deep breath. Often, people who experience a primary spontaneous pneumothorax have no prior sign of illness; the blebs themselves typically do not cause any symptoms and are visible only on medical imaging. Affected individuals may have one bleb to more than thirty blebs. Once a bleb ruptures and causes a pneumothorax, there is an estimated 13 to 60 percent chance that the condition will recur.
These resources address the diagnosis or management of glycogen storage disease type I: - American Liver Foundation - Canadian Liver Foundation - Gene Review: Gene Review: Glycogen Storage Disease Type I - Genetic Testing Registry: Glucose-6-phosphate transport defect - Genetic Testing Registry: Glycogen storage disease type 1A - Genetic Testing Registry: Glycogen storage disease, type I - MedlinePlus Encyclopedia: Von Gierke Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Cone dystrophy is a general term for a group of rare eye disorders that affect the cone cells of the retina. Cone cells allow a person to see color and fine detail, and they work best in bright light. The cone dystrophies can cause a variety of symptoms such as decreased visual clarity when looking straight ahead, a reduced ability to see colors, and an increased sensitivity to light. There are two main subtypes of cone dystrophy, called stationary cone dystrophy and progressive cone dystrophy. The age when symptoms begin, the type and severity of symptoms, and the progression of symptoms are all very different between individuals, even between people with the same type of cone dystrophy. Mutations in many genes have been found to cause cone dystrophy, and the condition can be inherited in an autosomal dominant, autosomal recessive, or x-linked manner.
Zollinger-Ellison syndrome is a rare disorder that occurs when one or more tumors form in the pancreas and duodenum. The tumors, called gastrinomas, release large amounts of gastrin that cause the stomach to produce large amounts of acid. Normally, the body releases small amounts of gastrin after eating, which triggers the stomach to make gastric acid that helps break down food and liquid in the stomach. The extra acid causes peptic ulcers to form in the duodenum and elsewhere in the upper intestine. The tumors seen with Zollinger-Ellison syndrome are sometimes cancerous and may spread to other areas of the body.
The prevalence of this condition is uncertain; estimates range from 1 in 25,000 to 300,000 individuals.
Treatment may include physical therapy, medication for seizures, and the placement of a shunt in the brain to remove excess fluid in the brain.
- If you have diabetes, you are at least twice as likely as other people to have heart disease or a stroke. - Controlling the ABCs of diabetesA1C (blood glucose), blood pressure, and cholesterol-can cut your risk of heart disease and stroke. - Choosing foods wisely, quitting smoking, and taking medications (if needed) can all help lower your risk of heart disease and stroke. - If you have any warning signs of a heart attack or a stroke, get medical care immediatelydon't delay. Early treatment of heart attack and stroke in a hospital emergency room can reduce damage to the heart and the brain.
Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful. Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include tremors, voice problems or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild. Some people inherit dystonia. Others have it because of another disease. Researchers think that dystonia may be due to a problem in the part of the brain that handles messages about muscle contractions. There is no cure. Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain. NIH: National Institute of Neurological Disorders and Stroke
How is cutaneous mastocytosis diagnosed? A diagnosis of cutaneous mastocytosis is typically suspected based on the presence of suspicious signs and symptoms. A skin biopsy that reveals a high number of mast cells (immune cells that are important for the inflammatory response) confirms the diagnosis. Unfortunately it can sometimes be difficult to differentiate cutaneous mastocytosis from systemic mastocytosis. Additional tests may, therefore, be ordered to further investigate the risk for systemic disease. A bone marrow biopsy and specialized blood tests may be recommended in adults with cutaneous mastocytosis since they are at a higher risk for systemic mastocytosis. Affected children typically do not undergo a bone marrow biopsy unless blood tests are abnormal.
Making heart-healthy lifestyle choices is the best way to prevent metabolic syndrome by: Being physically active Following a heart-healthy eating plan Knowing your weight, waist measurement, and body mass index Maintaining a healthy weight Make sure to schedule routine doctor visits to keep track of your cholesterol, blood pressure, and blood sugar levels. Speak with your doctor about a blood test called a lipoprotein panel, which shows your levels of total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides.
What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese.
Summary : There are many reasons to have surgery. Some operations can relieve or prevent pain. Others can reduce a symptom of a problem or improve some body function. Some surgeries are done to find a problem. For example, a surgeon may do a biopsy, which involves removing a piece of tissue to examine under a microscope. Some surgeries, like heart surgery, can save your life. Some operations that once needed large incisions (cuts in the body) can now be done using much smaller cuts. This is called laparoscopic surgery. Surgeons insert a thin tube with a camera to see, and use small tools to do the surgery. After surgery there can be a risk of complications, including infection, too much bleeding, reaction to anesthesia, or accidental injury. There is almost always some pain with surgery. Agency for Healthcare Research and Quality
Warthin tumor is a benign tumor of the salivary gland. The first symptom is usually a painless, slow-growing bump in front of the ear, on the bottom of the mouth, or under the chin. Warthin tumors may increase in size over time, but few become cancerous. Though the cause is currently unknown, smoking is believed to increase the chance of developing Warthin tumor. Treatment may consist of surgery to remove the tumor or careful observation to watch for changes in the tumor over time.
If you have diabetes, you are at least twice as likely as someone who does not have diabetes to have heart disease or a stroke. People with diabetes also tend to develop heart disease or have strokes at an earlier age than other people. If you are middle-aged and have type 2 diabetes, some studies suggest that your chance of having a heart attack is as high as someone without diabetes who has already had one heart attack. Women who have not gone through menopause usually have less risk of heart disease than men of the same age. But women of all ages with diabetes have an increased risk of heart disease because diabetes cancels out the protective effects of being a woman in her child-bearing years. People with diabetes who have already had one heart attack run an even greater risk of having a second one. In addition, heart attacks in people with diabetes are more serious and more likely to result in death. High blood glucose levels over time can lead to increased deposits of fatty materials on the insides of the blood vessel walls. These deposits may affect blood flow, increasing the chance of clogging and hardening of blood vessels (atherosclerosis).
How might nonspherocytic hemolytic anemia due to hexokinase deficiency be treated? When severe anemia is present, blood transfusions may be necessary. Affected individuals should avoid any drugs that can cause destruction of red blood cells, as well as any environmental triggers that may be identified.
Protein is an essential part of any diet. Proteins help build and maintain muscle, bone, skin, connective tissue, internal organs, and blood. They help fight disease and heal wounds. But proteins also break down into waste products that must be removed from the blood by the kidneys. Eating more protein than the body needs may put an extra burden on the kidneys and cause kidney function to decline faster. Health care providers recommend that people with CKD eat moderate or reduced amounts of protein. However, restricting protein could lead to malnutrition, so people with CKD need to be careful. The typical American diet contains more than enough protein. Learning about portion sizes can help people limit protein intake without endangering their health.
The incidence of autosomal recessive congenital methemoglobinemia is unknown.
Trigeminal trophic syndrome is a rare disease that affects the skin on the side of the nose, supplied by the trigeminal nerve. People with trigeminal trophic syndrome have a loss of sensation in the nose or abnormal sensations like tingling, numbness, or burning and they rub or scratch the skin causing cuts or ulcers in the area. When the cuts heal, they can cause scars that pull up the lip. Similar cuts may also occur in the corners of the eyes, scalp or inside the mouth. The tip of the nose is spared because its sensation comes from a different nerve. Trigeminal trophic syndrome may occur in people who were treated for trigeminal neuralgia or after leprosy (Hansen's disease) or shingles infection. Treatment options include medications, radiotherapy, and covering the wounds until they have fully healed. Another treatment option is a technique called transcutaneous electrical stimulation that uses a small electronic device to direct mild electric pulses to nerve endings that lie beneath the skin.
What causes multiple familial trichoepithelioma? Multiple familial trichoepithelioma is thought to be inherited in an autosomal dominant fashion with reduced penetrance. Autosomal dominant means that a single mutation in one copy of a gene is sufficient to cause the condition. Reduced penetrance means that not everyone with the gene mutation will develop symptoms of the condition. Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene which is found on chromosome 16 or by a mutation on a gene on chromsome 9 that has yet to be identified.
These resources address the diagnosis or management of X-linked hyper IgM syndrome: - Gene Review: Gene Review: X-Linked Hyper IgM Syndrome - Genetic Testing Registry: Immunodeficiency with hyper IgM type 1 - MedlinePlus Encyclopedia: Immunodeficiency Disorders 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
Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Possible risk factors for astrocytoma include: - Past radiation therapy to the brain. - Having certain genetic disorders, such as neurofibromatosis type 1 (NF1) or tuberous sclerosis.
Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. It is estimated to affect at least 1 in 17,000 people worldwide.
Is myoclonic epilepsy associated with ragged red fibers genetic? If so, how is it inherited? MERRF is caused by mutations in the mitochondrial DNA and is transmitted by maternal inheritance. It is called maternal inheritance because a child inherits the great majority of their mitochondria from their mother through the egg. The Centre for Genetics Education provides a detail description of maternal inheritance. The mother of an individual with MERRF usually has a mitochondrial mutation and may or may not have symptoms. Or, an individual with MERRF may have a mitochondrial mutation that just occurred in them, called a de novo mutation. If the mother has the mitochondrial mutation, all of her children will inherit the mutation and may or may not have symptoms. All of her daughters children will also inherit the mitochondrial mutation. Her son's children are not at risk of inheriting the mutation.
The term "pinched nerve" is a colloquial term and not a true medical term. It is used to describe one type of damage or injury to a nerve or set of nerves. The injury may result from compression, constriction, or stretching. Symptoms include numbness, "pins and needles" or burning sensations, and pain radiating outward from the injured area. One of the most common examples of a single compressed nerve is the feeling of having a foot or hand "fall asleep." A "pinched nerve" frequently is associated with pain in the neck or lower back. This type of pain can be caused by inflammation or pressure on the nerve root as it exits the spine. If the pain is severe or lasts a long time, you may need to have further evaluation from your physician. Several problems can lead to similar symptoms of numbness, pain, and tingling in the hands or feet but without pain in the neck or back. These can include peripheral neuropathy, carpal tunnel syndrome, and tennis elbow. The extent of such injuries may vary from minor, temporary damage to a more permanent condition. Early diagnosis is important to prevent further damage or complications. Pinched nerve is a common cause of on-the-job injury.
Chemotherapy is the use of drugs to kill cancer cells. A patient may take chemotherapy by mouth in pill form, or it may be put into the body by inserting a needle into a vein or muscle. Chemotherapy is called whole body or systemic treatment if the drug(s) enter the bloodstream, travel through the body, and kill cancer cells throughout the body. Treatment with standard chemotherapy can be as short as two months or as long as two years. Targeted therapies, usually in pill form, have become more common and focus on either a gene or protein abnormality and usually have few adverse side-effects as they directly affect the abnormality and not other cells or tissues in the body. Sometimes chemotherapy is the only treatment the doctor will recommend. More often, however, chemotherapy is used in addition to surgery, radiation therapy, and/or biological therapy.
Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by the body's inability to absorb and retain magnesium that is taken in through the diet. As a result, magnesium levels in the blood are severely low (hypomagnesemia). Hypomagnesemia impairs the function of the parathyroid glands, which are small hormone-producing glands located in the neck. Normally, the parathyroid glands release a hormone that increases blood calcium levels when they are low. Magnesium is required for the production and release of parathyroid hormone, so when magnesium is too low, insufficient parathyroid hormone is produced and blood calcium levels are also reduced (hypocalcemia). The hypocalcemia is described as "secondary" because it occurs as a consequence of hypomagnesemia. Shortages of magnesium and calcium can cause neurological problems that begin in infancy, including painful muscle spasms (tetany) and seizures. If left untreated, hypomagnesemia with secondary hypocalcemia can lead to developmental delay, intellectual disability, a failure to gain weight and grow at the expected rate (failure to thrive), and heart failure.
Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke
Hepatitis B is a liver disease spread through contact with blood, semen, or other body fluids from a person infected with the hepatitis B virus. The disease is most commonly spread from an infected mother to her infant at birth. Hepatitis B is also spread through sex, wound-to-wound contact, and contact with items that may have blood on them, such as shaving razors, toothbrushes, syringes, and tattoo and body piercing needles. Hepatitis B is not spread through casual contact such as shaking hands or hugging; nor is it spread by sharing food or beverages, by sneezing and coughing, or through breastfeeding.
These resources address the diagnosis or management of ornithine transcarbamylase deficiency: - Baby's First Test - Gene Review: Gene Review: Ornithine Transcarbamylase Deficiency - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Ornithine carbamoyltransferase deficiency - MedlinePlus Encyclopedia: Hereditary urea cycle abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of familial osteochondritis dissecans: - Cedars-Sinai - Genetic Testing Registry: Osteochondritis dissecans - Seattle Children's: Osteochondritis Dissecans Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Homocarnosinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Homocarnosinosis. 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 retinal pigmentation - Abnormality of skin pigmentation - Autosomal recessive inheritance - Carnosinuria - Intellectual disability - Spastic paraplegia - 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.
Blount disease is characterized by progressive bowing of the legs in infancy, early childhood, or adolescence. While it is not uncommon for young children to have bowed legs, typically the bowing improves with age. Blount disease is a condition that results from abnormal growth in the upper part of the shin bone (tibia) and requires treatment for improvement to occur. Treatment may involve bracing and/or surgery. Other causes for Blount disease in young children includes metabolic disease and rickets. Blount disease in teens typically occurs in youth who are overweight. In teens surgery is often required to correct the problem.
The NINDS supports and conducts an extensive research program on neuromuscular disorders such as the myopathies. Much of this research is aimed at increasing scientific understanding of these disorders, and finding ways to prevent, treat, and cure them.
How might Maffucci syndrome be treated? Management aims at relief of symptoms and early detection of malignancies. Individuals with Maffucci syndrome may benefit from consultations with the following specialists: Radiologist: Radiography or CT scanning performed periodically to evaluate bone changes. Orthopedic surgeon: An orthopedic surgeon may be consulted to evaluate bone changes and skeletal neoplasms and to help in treatment of fractures associated with the disease. Dermatologist: A dermatologist may be consulted to evaluate hemangiomas associated with the condition and to identify any new lesions on the skin.
What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition. Most cases of mosaic trisomy 14 appear to result from random errors in the separation of chromosomes (nondisjunction) -- either during the division of the egg or sperm in one of the parents, or during cell division after fertilization. There have been some reports in which it may have occurred due to other phenomenon, such as uniparental disomy or the formation of an isochromosome. Uniparental disomy is when an affected individual inherits both copies of a chromosomal pair from one parent, rather than one copy from each parent. An isochromosome is an abnormal chromosome with identical arms on each side of the centromere. Unique has a leaflet on their Web site that contains additional descriptions and illustrations of how mosaic trisomy 14 may occur. Click here to view the leaflet.
Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family. Many individuals with uromodulin-associated kidney disease develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine. In this condition, the kidneys are unable to remove uric acid from the blood effectively. A buildup of uric acid can cause gout, which is a form of arthritis resulting from uric acid crystals in the joints. The signs and symptoms of gout may appear as early as a person's teens in uromodulin-associated kidney disease. Uromodulin-associated kidney disease causes slowly progressive kidney disease, with the signs and symptoms usually beginning during the teenage years. The kidneys become less able to filter fluids and waste products from the body as this condition progresses, resulting in kidney failure. Individuals with uromodulin-associated kidney disease typically require either dialysis to remove wastes from the blood or a kidney transplant between the ages of 30 and 70. Occasionally, affected individuals are found to have small kidneys or kidney cysts (medullary cysts).
How is Pierson syndrome inherited? Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Summary : Being a teenager is hard. You're under stress to be liked, do well in school, get along with your family, and make big decisions. You can't avoid most of these pressures, and worrying about them is normal. But feeling very sad, hopeless or worthless could be warning signs of a mental health problem. Mental health problems are real, painful, and sometimes severe. You might need help if you have the signs mentioned above, or if you - Often feel very angry or very worried - Feel grief for a long time after a loss or death - Think your mind is controlled or out of control - Use alcohol or drugs - Exercise, diet and/or binge-eat obsessively - Hurt other people or destroy property - Do reckless things that could harm you or others Mental health problems can be treated. To find help, talk to your parents, school counselor, or health care provider.
Hereditary antithrombin deficiency is estimated to occur in about 1 in 2,000 to 3,000 individuals. Of people who have experienced an abnormal blood clot, about 1 in 20 to 200 have hereditary antithrombin deficiency.
Fragile X syndrome is the most common form of inherited developmental disability. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the problem causes a person to make little or none of the protein. This causes the symptoms of Fragile X. People with only a small change in the gene might not show any signs of Fragile X. People with bigger changes can have severe symptoms. These might include - Intelligence problems, ranging from learning disabilities to severe intellectual disabilities - Social and emotional problems, such as aggression in boys or shyness in girls - Speech and language problems, especially in boys A genetic blood test can diagnose Fragile X. There is no cure. You can treat some symptoms with educational, behavioral, or physical therapy, and with medicines. Getting treatment early can help. NIH: National Institute of Child Health and Human Development
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females. The eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness. People with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate. Heart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse). Teeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel.
How might Hailey-Hailey disease be treated? There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person. Affected people are encouraged to avoid "triggers" such as sunburn, sweating, and friction, and to keep the affected areas dry. Sunscreen, loose clothing, moisturizing creams, and avoiding excessive heat may help prevent outbreaks. Trying to prevent bacterial, viral, and fungal infections in the affected areas is also important, and drugs used to treat or prevent these infections are commonly used. Topical medications (such as mild corticosteroid creams and topical antibiotics) may improve symptoms in milder forms. Cool compresses and dressings may also help. More severe cases may require systemic antibiotics and/or stronger corticosteroid creams. Carbon dioxide laser treatment may be effective for severe forms. In very severe cases, surgery can be performed to remove the affected skin, but skin grafts are usually necessary to repair the wounds.
Within the Federal government, the National Institute of Neurological Disorders and Stroke (NINDS), one part of the National Institutes of Health (NIH), supports research on the neurological consequences of AIDS. The NINDS works closely with its sister agency, the National Institute of Allergy and Infectious Diseases (NIAID), which has primary responsibility for research related to HIV and AIDS.
How might Singleton Merten syndrome be treated? The treatment of Singleton Merten syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, specialists who diagnose and treat abnormalities of the heart (cardiologists), dental specialists, physical therapists, specialists who diagnose and treat conditions of the skin (dermatologists), and other health care professionals may need to systematically and comprehensively plan an affected child's treatment. Specific therapies for the treatment of Singleton Merten syndrome are symptomatic and supportive. Special services that may be beneficial to affected children may include special social support, physical therapy, and other medical, social, and/or vocational services. Genetic counseling would be of benefit for affected individuals and their families.
Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. Early death is common due to respiratory complications. The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation. Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition.
These resources address the diagnosis or management of congenital sucrase-isomaltase deficiency: - Genetic Testing Registry: Sucrase-isomaltase deficiency - MedlinePlus Encyclopedia: Abdominal bloating - MedlinePlus Encyclopedia: Inborn errors of metabolism - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of thiamine-responsive megaloblastic anemia syndrome: - Gene Review: Gene Review: Thiamine-Responsive Megaloblastic Anemia Syndrome - Genetic Testing Registry: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness - MedlinePlus Encyclopedia: Optic nerve atrophy - MedlinePlus Encyclopedia: Thiamine These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The prognosis for individuals with TSC depends on the severity of symptoms. Individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. In rare cases, seizures, infections, or tumors in vital organs such as the kidneys and brain can lead to severe complications and even death. However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.
These resources address the diagnosis or management of xeroderma pigmentosum: - American Cancer Society: How are Squamous and Basal Cell Skin Cancer Diagnosed? - American Cancer Society: How is Melanoma Diagnosed? - Gene Review: Gene Review: Xeroderma Pigmentosum - Genetic Testing Registry: Xeroderma pigmentosum - Genetic Testing Registry: Xeroderma pigmentosum, complementation group b - Genetic Testing Registry: Xeroderma pigmentosum, group C - Genetic Testing Registry: Xeroderma pigmentosum, group D - Genetic Testing Registry: Xeroderma pigmentosum, group E - Genetic Testing Registry: Xeroderma pigmentosum, group F - Genetic Testing Registry: Xeroderma pigmentosum, group G - Genetic Testing Registry: Xeroderma pigmentosum, type 1 - Genetic Testing Registry: Xeroderma pigmentosum, variant type - MedlinePlus Encyclopedia: Xeroderma Pigmentosum - National Cancer Institute: Melanoma Treatment - National Cancer Institute: Skin Cancer Treatment - Xeroderma Pigmentosum Society, Inc.: Beta Carotene - Xeroderma Pigmentosum Society, Inc.: Ultraviolet Radiation and Protection 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
Pubic lice are short and crab-like and appear very different from head and body lice. Pubic lice infestation is diagnosed by finding a “crab” louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk, scalp). Although pubic lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find lice or eggs.
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes mellitus (the most common form of diabetes). People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities. Behavioral problems are common, including temper outbursts, stubbornness, and compulsive behavior such as picking at the skin. Sleep abnormalities can also occur. Additional features of this condition include distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth; short stature; and small hands and feet. Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair. Both affected males and affected females have underdeveloped genitals. Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile).
Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only types 1 and 2 have been identified in more than one family, and type 2 is by far the most common form of the condition.
This condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
The NINDS supports research aimed at discovering new ways to diagnose, treat, and, ultimately, cure neuropathies such as Miller Fisher syndrome.
The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. The large intestine absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus, the opening through which stool leaves the body.
These resources address the diagnosis or management of lattice corneal dystrophy type I: - American Foundation for the Blind: Living with Vision Loss - Genetic Testing Registry: Lattice corneal dystrophy Type I - Merck Manual Home Health Edition: Diagnosis of Eye Disorders: Slit-Lamp Examination These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What causes fibromuscular dysplasia? The cause of fibromuscular dysplasia is unknown. It is likely that there are many factors that contribute to the development of this condition. These factors may include blood vessel abnormalities, tobacco use, hormone levels, and genetic predispositions. Approximately 28 percent of affected individuals have more than one artery with fibromuscular dysplasia. It is not known why some people develop this condition in more than one artery.
These resources address the diagnosis or management of LAMA2-related muscular dystrophy: - Boston Children's Hospital: Treatment and Care for Muscular Dystrophy - Gene Review: Gene Review: LAMA2-Related Muscular Dystrophy - Genetic Testing Registry: Congenital muscular dystrophy due to partial LAMA2 deficiency - Genetic Testing Registry: Merosin deficient congenital muscular dystrophy - Kennedy Krieger Institute: Center for Genetic Muscle Disorders These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Most people with 22q11.2 deletion syndrome are missing a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. This region contains 30 to 40 genes, many of which have not been well characterized. A small percentage of affected individuals have shorter deletions in the same region. This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together. Researchers are working to identify all of the genes that contribute to the features of 22q11.2 deletion syndrome. They have determined that the loss of a particular gene on chromosome 22, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Some studies suggest that a deletion of this gene may contribute to behavioral problems as well. The loss of another gene, COMT, in the same region of chromosome 22 may also help explain the increased risk of behavioral problems and mental illness. The loss of additional genes in the deleted region likely contributes to the varied features of 22q11.2 deletion syndrome.
Most people with persistent Mllerian duct syndrome have mutations in the AMH gene or the AMHR2 gene. The AMH gene provides instructions for making a protein called anti-Mllerian hormone (AMH). The AMHR2 gene provides instructions for making a protein called AMH receptor type 2. The AMH protein and AMH receptor type 2 protein are involved in male sex differentiation. All fetuses develop the Mllerian duct, the precursor to female reproductive organs. During development of a male fetus, these two proteins work together to induce breakdown (regression) of the Mllerian duct. Mutations in the AMH and AMHR2 genes lead to nonfunctional proteins that cannot signal for regression of the Mllerian duct. As a result of these mutations, the Mllerian duct persists and goes on to form a uterus and fallopian tubes. Approximately 45 percent of cases of persistent Mllerian duct syndrome are caused by mutations in the AMH gene and are called persistent Mllerian duct syndrome type 1. Approximately 40 percent of cases are caused by mutations in the AMHR2 gene and are called persistent Mllerian duct syndrome type 2. In the remaining 15 percent of cases, no mutations in the AMH and AMHR2 genes have been identified, and the genes involved in causing the condition are unknown.
How is pontocerebellar hypoplasia type 1 inherited? Pontocerebellar hypoplasia type 1 (PCH1) is inherited in an autosomal recessive pattern, which means both copies of the associated 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. This means that parents who are carriers of this condition have a 25% chance of having an affected child.
How might Parkes Weber syndrome be treated? For capillary malformations (such as port wine stains) that are of cosmetic concern, individuals may be referred to a dermatologist. For arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), the risks and benefits of intervention (i,e, embolization versus surgery) may be considered, usually with input from a multi-disciplinary team (e.g., specialists in interventional radiology, neurosurgery, surgery, cardiology, and dermatology). For risks associated with heart failure, referral to a cardiologist may be warranted. Hypertrophy (overgrowth) of the limb and/or difference in size between limbs may be treated surgically by an orthopedist. Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and antibiotic medications may be prescribed as needed.
Bietti crystalline dystrophy is a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss. People with Bietti crystalline dystrophy typically begin noticing vision problems in their teens or twenties. They experience a loss of sharp vision (reduction in visual acuity) and difficulty seeing in dim light (night blindness). They usually lose areas of vision (visual field loss), most often side (peripheral) vision. Color vision may also be impaired. The vision problems may worsen at different rates in each eye, and the severity and progression of symptoms varies widely among affected individuals, even within the same family. However, most people with this condition become legally blind by their forties or fifties. Most affected individuals retain some degree of vision, usually in the center of the visual field, although it is typically blurry and cannot be corrected by glasses or contact lenses. Vision impairment that cannot be improved with corrective lenses is called low vision.
The cause of idiopathic pulmonary fibrosis is unknown, although the disease probably results from a combination of genetic and environmental factors. It is likely that genetic changes increase a person's risk of developing idiopathic pulmonary fibrosis, and then exposure to certain environmental factors triggers the disease. Changes in several genes have been suggested as risk factors for idiopathic pulmonary fibrosis. Most of these genetic changes account for only a small proportion of cases. However, mutations in genes known as TERC and TERT have been found in about 15 percent of all cases of familial pulmonary fibrosis and a smaller percentage of cases of sporadic idiopathic pulmonary fibrosis. The TERC and TERT genes provide instructions for making components of an enzyme called telomerase, which maintains structures at the ends of chromosomes known as telomeres. It is not well understood how defects in telomerase are associated with the lung damage characteristic of idiopathic pulmonary fibrosis. Researchers have also examined environmental risk factors that could contribute to idiopathic pulmonary fibrosis. These factors include exposure to wood or metal dust, viral infections, certain medications, and cigarette smoking. Some research suggests that gastroesophageal reflux disease (GERD) may also be a risk factor for idiopathic pulmonary fibrosis; affected individuals may breathe in (aspirate) stomach contents, which over time could damage the lungs.
Prediabetes is when blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes means a person is at increased risk for developing type 2 diabetes, as well as for heart disease and stroke. Many people with prediabetes develop type 2 diabetes within 10 years. However, modest weight loss and moderate physical activity can help people with prediabetes delay or prevent type 2 diabetes.
Infective endocarditis (IE) is treated with antibiotics and sometimes with heart surgery. Antibiotics Antibiotics usually are given for 2 to 6 weeks through an intravenous (IV) line inserted into a vein. You're often in a hospital for at least the first week or more of treatment. This allows your doctor to make sure the medicine is helping. If you're allowed to go home before the treatment is done, the antibiotics are almost always continued by vein at home. You'll need special care if you get IV antibiotic treatment at home. Before you leave the hospital, your medical team will arrange for you to receive home-based care so you can continue your treatment. You also will need close medical followup, usually by a team of doctors. This team often includes a doctor who specializes in infectious diseases, a cardiologist (heart specialist), and a heart surgeon. Surgery Sometimes surgery is needed to repair or replace a damaged heart valve or to help clear up IE. For example, IE caused by fungi often requires surgery. This is because this type of IE is harder to treat than IE caused by bacteria.
Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy. The PNPLA2 gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides. These triglycerides then accumulate in muscle and tissues throughout the body, resulting in the signs and symptoms of neutral lipid storage disease with myopathy.
How might Mondini dysplasia be treated? Surgery to repair the defect present with Mondini dysplasia is typically necessary to prevent recurrent meningitis. Prophylactic antimicrobial therapy (such as antibiotics) to prevent infection and conjugate pneumococcal vaccination are helpful in reducing the formation of bacteria in affected individuals. If an individual has residual hearing, hearing amplification aids may be useful. The use of cochlear implants to treat patients with inner ear malformations such as Mondini dysplasia has been increasingly successful. Various results of cochlear implantation in individuals with Mondini dysplasia have been reported in the literature.
Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
An abscess is a pocket of pus. You can get an abscess almost anywhere in your body. When an area of your body becomes infected, your body's immune system tries to fight the infection. White blood cells go to the infected area, collect within the damaged tissue, and cause inflammation. During this process, pus forms. Pus is a mixture of living and dead white blood cells, germs, and dead tissue. Bacteria, viruses, parasites and swallowed objects can all lead to abscesses. Skin abscesses are easy to detect. They are red, raised and painful. Abscesses inside your body may not be obvious and can damage organs, including the brain, lungs and others. Treatments include drainage and antibiotics.
The risk factors for deep vein thrombosis (DVT) include: A history of DVT. Conditions or factors that make your blood thicker or more likely to clot than normal. Some inherited blood disorders (such as factor V Leiden) will do this. Hormone therapy or birth control pills also increase the risk of clotting. Injury to a deep vein from surgery, a broken bone, or other trauma. Slow blood flow in a deep vein due to lack of movement. This may occur after surgery, if you're ill and in bed for a long time, or if you're traveling for a long time. Pregnancy and the first 6 weeks after giving birth. Recent or ongoing treatment for cancer. A central venous catheter. This is a tube placed in a vein to allow easy access to the bloodstream for medical treatment. Older age. Being older than 60 is a risk factor for DVT, although DVT can occur at any age. Overweight or obesity. Smoking. Your risk for DVT increases if you have more than one of the risk factors listed above.
Agenesis of the corpus callosum (ACC) is a birth defect in which the structure that connects the two sides of the brain (the corpus callosum) is partially or completely absent. This birth defect can occur as an isolated condition or in combination with other abnormalities. The effects of agenesis of the corpus callosum range from subtle or mild to severe, depending on associated brain abnormalities. Treatment usually involves management of symptoms and seizures if they occur.
CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essential for many critical cell functions. It also plays an important role in the formation of new blood vessels (angiogenesis). In people with CARASIL, mutations in the HTRA1 gene prevent the effective regulation of TGF- signaling. Researchers suspect that abnormally increased TGF- signaling alters the structure of small blood vessels, particularly in the brain. These blood vessel abnormalities (described as arteriopathy) greatly increase the risk of stroke and lead to the death of nerve cells (neurons) in many areas of the brain. Dysregulation of TGF- signaling may also underlie the hair loss and back pain seen in people with CARASIL, although the relationship between abnormal TGF- signaling and these features is less clear.
What treatment is available for benign rolandic epilepsy? Although treatment is usually not necessary since the episodes are infrequent and are typically outgrown by puberty, anticonvulsants such as carbamazepine.
Multi-infarct dementia (MID) is a common cause of memory loss in the elderly. MID is caused by multiple strokes (disruption of blood flow to the brain). Disruption of blood flow leads to damaged brain tissue. Some of these strokes may occur without noticeable clinical symptoms. Doctors refer to these as silent strokes. An individual having asilent stroke may not even know it is happening, but over time, as more areas of the brain are damaged and more small blood vessels are blocked, the symptoms of MID begin to appear. MID can be diagnosed by an MRI or CT of the brain, along with a neurological examination. Symptoms include confusion or problems with short-term memory; wandering, or getting lost in familiar places; walking with rapid, shuffling steps; losing bladder or bowel control; laughing or crying inappropriately; having difficulty following instructions; and having problems counting money and making monetary transactions. MID, which typically begins between the ages of 60 and 75, affects men more often than women. Because the symptoms of MID are so similar to Alzheimers disease, it can be difficult for a doctor to make a firm diagnosis. Since the diseases often occur together, making a single diagnosis of one or the other is even more problematic.