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What are the signs and symptoms of Hereditary congenital facial paresis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary congenital facial paresis. 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 eye - 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 causes brittle diabetes? There are multiple causes of brittle diabetes. Emotional stress seems to play an important role, in some cases leading to hormonal inbalances which can lead to brittle diabetes. Emotional stress can also lead to a shift in the behavior of an individual, leading them to neglect their self-care. Other cases can be traced to physiological causes, including malabsorption, delayed gastric emptying due to autonomic neuropathy (gastroparesis), celiac disease, impaired glucose counterregulation (which doesn't allow the patient's body to react as it should when blood glucose levels drop), hypothyroidism and adrenal insufficiency, drug or alcohol use, systemic insulin resistance, and abnormal insulin absorption or degradation.
Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. The exact cause of Churg Strauss syndrome is unknown, but it is thought to be an autoimmune disorder. Treatment may involve the use of glucocorticoids and/or other immunosuppressive therapies.
These resources address the diagnosis or management of small fiber neuropathy: - Genetic Testing Registry: Small fiber neuropathy 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
Motion sickness is a common problem in people traveling by car, train, airplanes and especially boats. Motion sickness can start suddenly, with a queasy feeling and cold sweats. It can then lead to dizziness and nausea and vomiting. Your brain senses movement by getting signals from your inner ears, eyes, muscles and joints. When it gets signals that do not match, you can get motion sickness. For example, down below on a boat, your inner ear senses motion, but your eyes cannot tell you are moving. Where you sit can make a difference. The front seat of a car, forward cars of a train, upper deck on a boat or wing seats in a plane may give you a smoother ride. Looking out into the distance - instead of trying to read or look at something in the vehicle - can also help. Centers for Disease Control and Prevention
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.
What are the signs and symptoms of Thyroid hormone plasma membrane transport defect? The Human Phenotype Ontology provides the following list of signs and symptoms for Thyroid hormone plasma membrane transport defect. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Euthyroid hyperthyroxinemia - Goiter - 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.
Are there non-genetic causes of paroxysmal nonkinesigenic dyskinesia? Yes. Sporadic (non-genetic) causes of paroxysmal nonkinesigenic dyskinesia have been reported in the literature. Non-genetic causes include lesions of the basal ganglia due to multiple sclerosis, tumors, and vascular lesions. In addition, lesions outside the basal ganglia (including those due to penetrating injury) have been reported as causing symptoms similar to those found in paroxysmal nonkinesigenic dyskinesia. In these situations, careful evaluation by a neurologist and neuroimaging (such as MRI) may be necessary for diagnosis.
Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Citrullinemia type I is caused by mutations in the ASS1 gene. It is inherited in an autosomal recessive pattern.
These resources address the diagnosis or management of X-linked sideroblastic anemia: - Genetic Testing Registry: Hereditary sideroblastic anemia - MedlinePlus Encyclopedia: Anemia 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 tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). For example, TBM has been reported in people with mucopolysaccharidoses (such as Hunter syndrome and Hurler syndrome), Ehlers-Danlos Syndrome, and a variety of chromosome abnormalities. Primary TBM can also be idiopathic (unknown cause) or associated with prematurity and certain birth defects (i.e. tracheoesophageal fistula). The secondary form (also called acquired TBM) is caused by the degeneration (break down) of cartilage that typically supports the airways. It is most commonly associated with: Certain medical procedures such as endotracheal intubation or tracheostomy Conditions that lead to chronic (persisting or progressing for a long period of time) inflammation such as relapsing polychondritis or chronic obstructive pulmonary disease (COPD) Cancers, tumors, or cysts that cause prolonged compression of the airway
Lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. Other features associated with protein intolerance may also occur, including short stature, muscle weakness, impaired immune function, and osteoporosis. A lung disorder called pulmonary alveolar proteinosis may develop in some individuals, as can end-stage renal disease, coma and intellectual disability. Symptoms usually develop after infants are weaned and begin to eat solid foods. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. It is inherited in an autosomal recessive manner.
Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following: - The stage of the cancer (whether it affects part of the hypopharynx, involves the whole hypopharynx, or has spread to other places in the body). Hypopharyngeal cancer is usually detected in later stages because early signs and symptoms rarely occur. - The patient's age, gender, and general health. - The location of the cancer. - Whether the patient smokes during radiation therapy. Treatment options depend on the following: - The stage of the cancer. - Keeping the patient's ability to talk, eat, and breathe as normal as possible. - The patient's general health. Patients who have had hypopharyngeal cancer are at an increased risk of developing a second cancer in the head or neck. Frequent and careful follow-up is important.
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.
Who might consider genetic carrier testing for a family history of metachromatic leukodystrophy? If someone has a family history of metachromatic leukodystrophy (MLD) or someone is known to be a carrier for MLD, individuals who are biologically related to the affected individual or carrier are at risk to be a carrier. Generally speaking, the more closely related an individual is to the affected individual or carrier, the greater the chance for that person to be a carrier. Prior to genetic testing, the chance to be a carrier for some biological relatives of an affected individual are as follows: Parent of affected individual: assumed to be 100% (called an obligate carrier) Unaffected sibling of affected individual: 2 in 3 (~66.6%) Aunt or uncle of affected individual: 1 in 2 (50%) First cousin of affected individual: 1 in 4 (25%) If someone has carrier testing and is found to be negative (not a carrier), that person's children are typically assumed to be negative also. More information about the use of genetic carrier testing is available on GeneTests' Web site and can be viewed by clicking here. Individuals who are interested in learning about genetic testing and about their specific risk to be a carrier should speak with a genetics professional.
These resources address the diagnosis or management of Pendred syndrome: - Children's Hospital of Philadelphia, Center for Childhood Communication - Gene Review: Gene Review: Pendred Syndrome/DFNB4 - Genetic Testing Registry: Pendred's syndrome - MedlinePlus Encyclopedia: Goiter - MedlinePlus Encyclopedia: Hearing Loss 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
Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides (bilateral) of the ear. Affected people usually do not have any additional symptoms unless it becomes infected. Preauricular sinus may occur sporadically during the development of an embryo or it may be inherited in an autosomal dominant manner with reduced penetrance. Less often, it occurs as a feature of another condition or syndrome. Treatment may include antibiotics for infection and/or surgery to remove the sinus.
The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More than 200 affected individuals have been reported.
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones. Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine, upper arms and upper legs, and results in shortened stature. For reasons not well understood, this rare skeletal dysplasia is also associated with early and progressive vision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown. It is thought to be inherited in an autosomal recessive fashion.
The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is unknown; it has been reported in only a small number of people worldwide.
Summary : A nursing home is a place for people who don't need to be in a hospital but can't be cared for at home. Most nursing homes have nursing aides and skilled nurses on hand 24 hours a day. Some nursing homes are set up like a hospital. The staff provides medical care, as well as physical, speech and occupational therapy. There might be a nurses' station on each floor. Other nursing homes try to be more like home. They try to have a neighborhood feel. Often, they don't have a fixed day-to-day schedule, and kitchens might be open to residents. Staff members are encouraged to develop relationships with residents. Some nursing homes have special care units for people with serious memory problems such as Alzheimer's disease. Some will let couples live together. Nursing homes are not only for the elderly, but for anyone who requires 24-hour care. NIH: National Institute on Aging
How might disseminated peritoneal leiomyomatosis (DPL) be treated? Presently there are no treatment guidelines for disseminated peritoneal leiomyomatosis (DPL). DPL is considered a benign condition and some cases of DPL resolve after the baby is delivered (if pregnant), hormone treatment is stopped (including both birth control pill and hormone replacement therapy), or a hormone producing tumor is removed. However, surgery may be suggested based on the size and location of the tumor.
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.
Yes. Smoking is the leading cause of cancer in the United States, and it increases the risk of many types of cancer, including - lung cancer - throat cancer - mouth cancer - nasal cavity cancer (cancer in the airways of the nose) - esophageal cancer (cancer of the esophagus) - stomach cancer - pancreatic cancer (cancer of the pancreas) - kidney cancer - bladder cancer - cervical cancer (cancer of the cervix) - acute myeloid leukemia (blood cancer). lung cancer throat cancer mouth cancer nasal cavity cancer (cancer in the airways of the nose) esophageal cancer (cancer of the esophagus) stomach cancer pancreatic cancer (cancer of the pancreas) kidney cancer bladder cancer cervical cancer (cancer of the cervix) acute myeloid leukemia (blood cancer). If you smoke, you are up to 10 times more likely to get cancer than a person who has never smoked. This depends on how much and how long you smoked.
Pilomatrixoma is a benign (non-cancerous) skin tumor of the hair follicle (structure in the skin that makes hair). They tend to develop in the head and neck area and are usually not associated with any other signs and symptoms (isolated). Rarely, pilomatrixomas can become cancerous (known as a pilomatrix carcinoma). Although they can occur in people of all ages, pilomatrixomas are most commonly diagnosed in people under age 20. The exact underlying cause is not well understood; however, somatic changes (mutations) in the CTNNB1 gene are found in most isolated pilomatrixomas. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome; in these cases, affected people usually have other characteristic signs and symptoms of the associated condition. They are usually treated with surgical excision.
What are the signs and symptoms of Snowflake vitreoretinal degeneration? The Human Phenotype Ontology provides the following list of signs and symptoms for Snowflake vitreoretinal degeneration. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Cataract - Vitreoretinal degeneration - 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.
Clostridium difficile (C. difficile) is a bacterium that causes diarrhea and more serious intestinal conditions such as colitis. Symptoms include - Watery diarrhea (at least three bowel movements per day for two or more days) - Fever - Loss of appetite - Nausea - Abdominal pain or tenderness You might get C. difficile disease if you have an illness that requires prolonged use of antibiotics. Increasingly, the disease can also be spread in the hospital. The elderly are also at risk. Treatment is with antibiotics. Centers for Disease Control and Prevention
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symptoms during childhood, but symptoms may first become apparent anywhere from before birth to adulthood. Symptoms may include difficulty coordinating movements (ataxia); muscle stiffness (spasticity); and optic atrophy. Symptoms may worsen rapidly with episodes of fever, after head trauma, or with other stresses on the body. This disorder may be caused by mutations in any of 5 genes and is inherited in an autosomal recessive manner. There is no specific treatment, and prognosis seems to correlate with the age of onset, the earliest forms being more severe.
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 has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms of the disorder.
These resources address the diagnosis or management of familial TAAD: - Gene Review: Gene Review: Thoracic Aortic Aneurysms and Aortic Dissections - Genetic Testing Registry: Aortic aneurysm, familial thoracic 2 - Genetic Testing Registry: Aortic aneurysm, familial thoracic 4 - Genetic Testing Registry: Aortic aneurysm, familial thoracic 6 - Genetic Testing Registry: Congenital aneurysm of ascending aorta - Genetic Testing Registry: Thoracic aortic aneurysm and aortic dissection 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
Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications.
Hepatitis B may start as a brief, flu-like illness. Most healthy adults and children older than 5 completely recover after the bodys immune system gets rid of the virus. Hepatitis B becomes chronic when the bodys immune system cant get rid of the virus. Over time, having the virus can lead to inflammation of the liver; scar tissue in the liver, called cirrhosis; or liver cancer. Inflammation is the painful red swelling that results when tissues of the body become infected. Young children and people with weakened immune systems are especially at risk. People who were infected as infants have a 90 percent chance of developing chronic hepatitis B.1
These resources address the diagnosis or management of cystinuria: - Genetic Testing Registry: Cystinuria - MedlinePlus Encyclopedia: Cystinuria - MedlinePlus Encyclopedia: Cystinuria (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
Myosin storage myopathy is a rare condition. Its prevalence is unknown.
How might polyembryoma be treated? Because polyembryomas are quite rare, there are no established guidelines for treating this condition. However, the first step for treating a polyembryoma is often surgery to remove as much of the tumor as possible. Chemotherapy, and sometimes radiation therapy, have also been used after surgery to destroy any cancer cells that may remain.
There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of seizure control should be weights against what could be excessive sedation from the anticonvulsant.. Valproate should not be used since it can increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.
Geographic tongue is a condition that causes chronic and recurrent lesions on the tongue that resemble psoriasis of the skin. It is characterized by pink to red, slightly depressed lesions with irregular, elevated, white or yellow borders. The lesions may also occur in the mucosa of the mouth and labia; this condition is called "areata migrans" because they typically disappear from one area and move to another. The tongue is normally covered with tiny, pinkish-white bumps (papillae), which are actually short, fine, hair-like projections. With geographic tongue, patches on the surface of the tongue are missing papillae and appear as smooth, red "islands," often with slightly raised borders. These patches (lesions) give the tongue a map-like, or geographic, appearance. In most cases there are no symptoms but sometimes it is painful when inflamed. The cause is still unknown. Many researchers think it is linked with psoriasis but more research is needed to better understand the connection. Also, hereditary and environmental factors may be involved. The condition is benign and localized, generally requiring no treatment except reassurance. If painful it may be treated with steroid gels or antihistamine mouth rinses.[12267]
This condition is inherited in an autosomal recessive pattern, which means both copies of the SRD5A2 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the SRD5A2 gene, their sexual development is not affected. The development of female sex characteristics does not require DHT, so a lack of steroid 5-alpha reductase 2 activity does not cause physical changes in these individuals. Only people who have mutations in both copies of the SRD5A2 gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of 5-alpha reductase deficiency.
How is Majeed syndrome inherited? Majeed syndrome 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. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis.
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.
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.
Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals and water. Studies show that a good diet in your later years reduces your risk of osteoporosis, high blood pressure, heart diseases and certain cancers. As you age, you might need less energy. But you still need just as many of the nutrients in food. To get them - Choose a variety of healthy foods - Avoid empty calories, which are foods with lots of calories but few nutrients, such as chips, cookies, soda and alcohol - Pick foods that are low in cholesterol and fat, especially saturated and trans fats Saturated fats are usually fats that come from animals. Look for trans fat on the labels of processed foods, margarines and shortenings. NIH: National Institute on Aging
People of all ages and races can have cardiomyopathy. However, certain types of the disease are more common in certain groups. Dilated cardiomyopathy is more common in African Americans than Whites. This type of the disease also is more common in men than women. Teens and young adults are more likely than older people to have arrhythmogenic right ventricular dysplasia, although it's rare in both groups. Major Risk Factors Certain diseases, conditions, or factors can raise your risk for cardiomyopathy. Major risk factors include: A family history of cardiomyopathy, heart failure, or sudden cardiac arrest (SCA) A disease or condition that can lead to cardiomyopathy, such as coronary heart disease, heart attack, or a viral infection that inflames the heart muscle Diabetes or other metabolic diseases, or severe obesity Diseases that can damage the heart, such as hemochromatosis, sarcoidosis, or amyloidosis Long-term alcoholism Long-term high blood pressure Some people who have cardiomyopathy never have signs or symptoms. Thus, it's important to identify people who may be at high risk for the disease. This can help prevent future problems, such as serious arrhythmias (irregular heartbeats) or SCA.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of cancer cell. - Whether the tumor can be removed completely by surgery. - The patient's general health. - Whether the cancer has just been diagnosed or has recurred (come back).
What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. 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 vertebral column - Arachnoid cyst - Autosomal dominant inheritance - 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.
What causes Prinzmetal's variant angina? Prinzmetal's variant angina is caused by coronary artery spasms. A coronary artery spasm is a temporary, abrupt, and focal (restricted to one location) contraction of the muscles in the wall of an artery in the heart. This spasm constricts the artery, slowing or stoping blood flow. A prolonged spasm can cause chest pain, or even a heart attack (myocardial infarction).
Noonan-like syndrome with loose anagen hair is characterized by facial features suggestive of Noonan syndrome (macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears) along with hair that resembles loose anagen hair syndrome (pluckable, sparse, thin and slow-growing). Other features include frequent congenital heart defects, distinctive skin features (darkly pigmented skin with eczema or ichthyosis), short stature which may be associated with a growth hormone deficiency, and developmental delays. The condition is caused by mutations in the SHOC2 gene. It follows an autosomal dominant pattern of inheritance.
Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Females seem to be affected slightly more often than males.
Rabson-Mendenhall syndrome is estimated to affect less than 1 per million people worldwide. Several dozen cases have been reported in the medical literature.
Camptocormia, camptocormism or "bent spine syndrome," (BSS) is an extreme forward flexion of the thoracolumbar spine, which often worsens during standing or walking, but completely resolves when laying down. The term itself is derived from the Greek "kamptos" (to bend) and "kormos" (trunk) BSS was initially considered, especially in wartime, as a result of a psychogenic disorder. It is now recognized that in it may also be related to a number of musculo-skeletal or neurological disorders. It seems that myopathy is the primary cause of camptocormia based on electromyography, magnetic resonance imaging/computed tomography (CT/MRI scans) of paraspinal muscles, and muscle biopsy. The majority of BSS of muscular origin is related to a primary idiopathic (with unknwon cause) axial myopathy of late onset, maybe a delayed-onset paraspinal myopathy, appearing in elderly patients. Causes of secondary BSS are numerous. The main causes are muscular disorders like inflammatory myopathies, muscular dystrophies of late onset, myotonic myopathies, endocrine and metabolic myopathies, and neurological disorders, principally Parkinsons disease. Diagnosis of axial myopathy is based upon CT/MRI scans demonstrating a lot of fatty infiltration of paravertebral muscles. General activity, walking with a cane, physiotherapy, and exercises should be encouraged. Treatment of secondary forms of BSS is dependent upon the cause.
No single treatment can cure the neurological complications of AIDS. Some disorders require aggressive therapy while others are treated symptomatically. Medicines range from analgesics sold over the counter to antiepileptic drugs, opiates, corticosteroids, and some classes of antidepressants. Other treatments include radiation therapy or chemotherapy to kill or shrink cancerous brain tumors that may be caused by HIV, antifungal or antimalarial drugs to combat certain bacterial infections, and penicillin to treat neurosyphilis. Aggressive antiretroviral therapy is used to treat AIDS dementia complex, PML, and cytomegalovirus encephalitis. HAART, or highly active antiretroviral therapy, combines at least three drugs to reduce the amount of virus circulating in the blood and may also delay the start of some infections.
Spinocerebellar ataxia 13 (SCA13) is a rare sub-type of spinocerebellar ataxias, a group of neurological conditions characterized by degeneration of the brain and spinal cord. Signs and symptoms of SCA13 appear to vary among affected people and range from childhood-onset, slowly progressive gait ataxia and dysarthria (often with intellectual disability and occasional seizures) to adult-onset progressive ataxia. Life expectancy is normal. SCA13 is caused by mutations in the KCNC3 gene and is inherited in an autosomal dominant manner. Treatment may include anti-seizure medications; assistive devices (such as a canes and walkers); and/or speech therapy and communication devices.
Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common.
The NINDS conducts and supports a broad range of research on motor neuron diseases. The goals of these studies are to increase understanding of these disorders and to find ways to treat, prevent, and ultimately cure them.
Alopecia areata (AA) is an autoimmune disease in which the immune system mistakenly attacks the hair follicles. In most cases, hair falls out in small, round patches on the scalp. Although uncommon, hair loss can be more extensive in some people and affect other parts of the body. This condition can progress to complete loss of scalp hair (alopecia totalis) or total loss of all body hair (alopecia universalis). Although the exact cause of AA is unknown, roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of the condition. There is no cure or approved therapy for AA; however, some people find that medications approved for other purposes can help regrow hair.
What are the signs and symptoms of Anti-plasmin deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Anti-plasmin deficiency, congenital. 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 - Bruising susceptibility - Hemothorax - Joint hemorrhage - Persistent bleeding after trauma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
The exact prevalence of PDGFRB-associated chronic eosinophilic leukemia is unknown. For unknown reasons, males are up to nine times more likely than females to develop PDGFRB-associated chronic eosinophilic leukemia.
Diabetic kidney disease, also called diabetic nephropathy, is kidney disease caused by diabetes. Even when well controlled, diabetes can lead to chronic kidney disease (CKD) and kidney failure, described as end-stage kidney disease or ESRD when treated with a kidney transplant or blood-filtering treatments called dialysis. Diabetes affects 25.8 million people of all ages in the United States.1 As many as 40 percent of people who have diabetes are expected to develop CKD.2 Diabetes, the most common cause of kidney failure in the United States, accounts for nearly 44 percent of new cases of kidney failure, as illustrated in Figure 1.3
The most common form of this disorder, ocular albinism type 1, affects at least 1 in 60,000 males. The classic signs and symptoms of this condition are much less common in females.
How does one get cherubism? What causes cherubism? Genetic changes (mutations) in the SH3BP2 gene cause cherubism. About 80 percent of people with cherubism have a mutation in the SH3BP2 gene. In most of the remaining cases, the genetic cause of the condition is unknown.
Clinical trials are research studies on people to find out whether a new drug or treatment is both safe and effective. New therapies are tested on people only after laboratory and animal studies show promising results. The Food and Drug Administration sets strict rules to make sure that people who agree to be in the studies are treated as safely as possible. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found at http://www.cancer.gov/clinicaltrials on the website of the National Cancer Institute (NCI). Check NCI's list of cancer clinical trials for breast cancer prevention trials that are now accepting patients.
What are the signs and symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency? People with G6PD deficiency do not have signs of the disease unless their red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or to stress. Many people with this condition never experience symptoms. The most common medical problem associated with G6PD deficiency is hemolytic anemia, which occurs when red blood cells are destroyed faster than the body can replace them. This type of anemia leads to paleness, yellowing of the skin and whites of the eyes (jaundice), dark urine, fatigue, shortness of breath, enlarged spleen, and a rapid heart rate. Researchers believe that carriers of a mutation in the G6PD gene may be partially protected against malaria, an infectious disease carried by a certain type of mosquito. A reduction in the amount of functional glucose-6-dehydrogenase appears to make it more difficult for this parasite to invade red blood cells. G6PD deficiency occurs more frequently in areas of the world where malaria is common.
Celiac disease tends to cluster in families. Parents, siblings, or children (first-degree relatives) of people with celiac disease have between a 4 and 15 percent chance of developing the disorder. However, the inheritance pattern is unknown.
These resources address the diagnosis or management of autosomal dominant hyper-IgE syndrome: - Gene Review: Gene Review: Autosomal Dominant Hyper IgE Syndrome - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperimmunoglobulin E 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
Dry eye symptoms may include any of the following. - stinging or burning of the eye - a sandy or gritty feeling as if something is in the eye - episodes of excess tears following very dry eye periods - a stringy discharge from the eye - pain and redness of the eye - episodes of blurred vision - heavy eyelids - inability to cry when emotionally stressed - uncomfortable contact lenses - decreased ability to read, work on the computer, or do any activity that requires you to use your eyes for long periods of time - eye fatigue. stinging or burning of the eye a sandy or gritty feeling as if something is in the eye episodes of excess tears following very dry eye periods a stringy discharge from the eye pain and redness of the eye episodes of blurred vision heavy eyelids inability to cry when emotionally stressed uncomfortable contact lenses decreased ability to read, work on the computer, or do any activity that requires you to use your eyes for long periods of time eye fatigue. If you have symptoms that you think could result from dry eye, consult an eye care professional to get an accurate diagnosis of the condition and begin treatment.
These resources address the diagnosis or management of Sheldon-Hall syndrome: - Gillette Children's Hospital - NYU Langone Medical Center 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
A prolactinoma is a benign noncancerous tumor of the pituitary gland that produces a hormone called prolactin. Prolactinomas are the most common type of pituitary tumor. Symptoms of prolactinoma are caused by hyperprolactinemia --- too much prolactin in the blood --- or by pressure of the tumor on surrounding tissues. Prolactin stimulates the breast to produce milk during pregnancy. After giving birth, a mothers prolactin levels fall unless she breastfeeds her infant. Each time the baby nurses, prolactin levels rise to maintain milk production.
Y. enterocolitica infections are generally diagnosed by detecting the organism in the stools. Many laboratories do not routinely test for Y. enterocolitica,so it is important to notify laboratory personnel when infection with this bacterium is suspected so that special tests can be done. The organism can also be recovered from other sites, including the throat, lymph nodes, joint fluid, urine, bile, and blood.
ARD is treatable because phytanic acid is not produced by the body, but is only found in foods. With treatment, muscle weakness, numbness, and dry and scaly skin generally disappear. However, vision and hearing problems may persist and the sense of smell may not return. Untreated, ARD can lead to sudden death caused by heartbeat abnormalities.
Wolff-Parkinson-White syndrome is a condition that disrupts the heart's normal rhythm (arrhythmia). People with Wolff-Parkinson-White syndrome are born with a heart abnormality that affects the coordinated movement of electrical signals through the heart. This abnormality leads to an abnormally fast heartbeat (tachycardia) and other arrhythmias. In most cases, the cause of Wolff-Parkinson-White syndrome is unknown. A small percentage of cases are caused by mutations in the PRKAG2 gene. These cases appear to be inherited in an autosomal dominant manner.
Peutz-Jeghers syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing noncancerous polyps and cancerous tumors. In about half of all cases, an affected person inherits a mutation in the STK11 gene from one affected parent. The remaining cases occur in people with no history of Peutz-Jeghers syndrome in their family. These cases appear to result from new (de novo) mutations in the STK11 gene.
Mutations in the ALG12 gene cause ALG12-CDG. This gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). Glycosylation modifies proteins and lipids so they can fully perform their functions. The enzyme produced from the ALG12 gene transfers a simple sugar called mannose to growing oligosaccharides at a particular step in the formation of the sugar chain. Once the correct number of sugar molecules are linked together, the oligosaccharide is attached to a protein or lipid. ALG12 gene mutations lead to the production of an abnormal enzyme with reduced activity. Without a properly functioning enzyme, mannose cannot be added to the chain efficiently, and the resulting oligosaccharides are often incomplete. Although the short oligosaccharides can be transferred to proteins and fats, the process is not as efficient as with the full-length oligosaccharide. As a result, glycosylation is reduced. The wide variety of signs and symptoms in ALG12-CDG are likely due to impaired glycosylation of proteins and lipids that are needed for normal function of many organs and tissues, including the brain.
There is no cure for lupus. Treatment is symptomatic. With a combination of medication, rest, exercise, proper nutrition, and stress management, most individuals with lupus can often achieve remission or reduce their symptom levels. Medications used in the treatment of lupus may include aspirin and other nonsteroidal anti-inflammatory medications, antimalarials, corticosteroids, and immunosuppressive drugs.
These resources address the diagnosis or management of ornithine translocase deficiency: - Baby's First Test - Gene Review: Gene Review: Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - 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
Coronaviruses are common viruses that most people get some time in their life. They are common throughout the world, and they can infect people and animals. Several different coronaviruses can infect people and make them sick. They usually cause mild to moderate upper-respiratory illness. But, some coronaviruses can cause severe illness. Coronaviruses probably spread through the air by coughing or sneezing, or by close personal contact. If you get infected, symptoms may include - Runny nose - Cough - Sore throat - Fever You may be able to reduce your risk of infection by washing your hands often with soap and water, not touching your eyes, nose, or mouth, and avoiding close contact with people who are sick. There is no vaccine to prevent coronavirus infection. There are no specific treatments. You can relieve symptoms with pain and fever medicines and rest. Centers for Disease Control and Prevention
Is hepatic encephalopathy inherited? Hepatic encephalopathy is not an inherited condition, so an individual who has it cannot pass it on to his/her children. It is brought on by chronic liver failure, particularly in alcoholics with cirrhosis. Although there are many theories and possibilities regarding what exactly causes HE, it is thought that one of the main causes is the accumulation of ammonia in the blood, which the liver, damaged by alcoholic liver disease, cannot remove. Researchers have found that ammonia alters the expression of certain genes; the genes that may be affected carry instructions for brain proteins. When the instructions in these genes are not "followed" correctly by the body due to the altered expression of the genes, the cells in the brain can no longer function normally, which may contribute to the signs and symptoms of HE. However, the genes themselves are not changed in such a way that these changes are passed down to an individual's children.
Nonsyndromic holoprosencephaly is inherited in an autosomal dominant pattern, which means an alteration in one copy of a gene in each cell is usually sufficient to cause the disorder. However, not all people with a gene mutation will develop signs and symptoms of the condition. In some cases, an affected person inherits the mutation from one parent who may or may not have mild features of the condition. Other cases result from a new gene mutation and occur in people with no history of the disorder in their family.
Mutations in the SPR gene cause sepiapterin reductase deficiency. The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the production of a molecule called tetrahydrobiopterin (also known as BH4). Specifically, sepiapterin reductase is responsible for the last step in the production of tetrahydrobiopterin. Tetrahydrobiopterin helps process several building blocks of proteins (amino acids), and is involved in the production of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. SPR gene mutations disrupt the production of sepiapterin reductase. Most SPR gene mutations result in an enzyme with little or no function. A nonfunctional sepiapterin reductase leads to a lack of tetrahydrobiopterin. In most parts of the body, there are alternate pathways that do not use sepiapterin reductase for the production of tetrahydrobiopterin, but these pathways are not found in the brain. Therefore, people with sepiapterin reductase deficiency have a lack of tetrahydrobiopterin in the brain. When no tetrahydrobiopterin is produced in the brain, production of dopamine and serotonin is greatly reduced. Among their many functions, dopamine transmits signals within the brain to produce smooth physical movements, and serotonin regulates mood, emotion, sleep, and appetite. The lack of these two neurotransmitters causes the problems with movement and other features of sepiapterin reductase deficiency.
These resources address the diagnosis or management of Laron syndrome: - Children's Hospital of Pittsburgh: Growth Hormone Treatment - Cinncinati Children's Hospital Medical Center: Growth Hormone Therapy - Genetic Testing Registry: Laron-type isolated somatotropin defect 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
Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern. There is currently no treatment to correct the underlying metabolic problem.
Mucolipidosis III alpha/beta is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III alpha/beta grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems also cause bone pain that becomes more severe over time in people with mucolipidosis III alpha/beta. People with mucolipidosis III alpha/beta often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or "coarse" over time. Affected individuals may also develop frequent ear and respiratory infections. About half of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III alpha/beta generally survive into adulthood, but they may have a shortened lifespan.
Protein S deficiency is caused by mutations in the PROS1 gene. This gene provides instructions for making protein S, which is found in the bloodstream and is important for controlling blood clotting. Protein S helps block the activity of (inactivate) certain proteins that promote the formation of blood clots. Most mutations that cause protein S deficiency change single protein building blocks (amino acids) in protein S, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein S to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein S deficiency can be divided into types I, II and III based on how mutations in the PROS1 gene affect protein S.
The bacteria that cause nocardiosis are commonly found in soil and water. You could become sick with nocardiosis if: - You inhale (breathe in) the bacteria - Bacteria gets into an open wound or cut In rare cases, infection can occur during surgical procedures. Fortunately, nocardiosis is not spread person to person, so being around someone who has the disease will not make you sick.
Summary : Safe steps in food handling, cooking, and storage can prevent foodborne illness. There are four basic steps to food safety at home: - Clean - always wash your fruits and vegetables, hands, counters, and cooking utensils. - Separate - keep raw foods to themselves. Germs can spread from one food to another. - Cook - foods need to get hot and stay hot. Heat kills germs. - Chill - put fresh food in the refrigerator right away. In the grocery store, avoid cans that are bulging or jars that have cracks or loose lids. Check packages to be sure food hasn't reached its expiration date. United States Department of Agriculture
This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition. At least one individual with microcephaly-capillary malformation syndrome inherited two mutated copies of the STAMBP gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.
These resources address the diagnosis or management of cytochrome c oxidase deficiency: - Cincinnati Children's Hospital: Acute Liver Failure - Cincinnati Children's Hospital: Cardiomyopathies - Genetic Testing Registry: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency - Genetic Testing Registry: Cytochrome-c oxidase deficiency - The United Mitochondrial Disease Foundation: Treatments and Therapies 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 ideal treatment for myelinolysis is to prevent the disorder by identifying individuals at risk and following careful guidelines for evaluation and correction of hyponatremia. These guidelines aim to safely restore the serum sodium level, while protecting the brain. For those who have hyponatremia for at least 2 days, or for whom the duration is not known, the rate of rise in the serum sodium concentration should be kept below 10 mmol/L during any 24-hour period, if possible. For those who develop myelinolysis, treatment is supportive. Some physicians have tried to treat myelinolysis with steroid medication or other experimental therapies, but none has been proven effective. Individuals are likely to require extensive and prolonged physical therapy and rehabilitation. Those individuals who develop parkinsonian symptoms may respond to the dopaminergic drugs that work for individuals with Parkinsons disease.
No treatment for an ectopic kidney is needed if urinary function is normal and no blockage of the urinary tract is present. If tests show an obstruction, surgery may be needed to correct the position of the kidney to allow for better drainage of urine. Reflux can be corrected by surgery to alter the ureter or injection of a gellike liquid into the bladder wall near the opening of the ureter. If extensive kidney damage has occurred, surgery may be needed to remove the kidney. As long as the other kidney is working properly, losing one kidney should have no adverse health effects. More information is provided in the NIDDK health topic, Solitary Kidney. With the right testing and treatment, if needed, an ectopic kidney should cause no serious long-term health problems.
Autoimmune gastrointestinal dysmotility (AGID) is a rare form of autoimmune autonomic neuropathy that can occur either due to an idiopathic cause or a paraneoplastic cause. Idiopathic forms of AGID are a manifestation of autoimmune autonomic neuropathy that affects the digestive nervous system. The signs and symptoms of AGID may include achalasia,gastroparesis, hypertrophic pyloric stenosis, intestinal pseudo-obstruction, megacolon and anal spasm. Treatment options for AGID includes symptom relief, treatment of any underlying neoplasm if necessary, immunotherapy and supportive treatment. Nutrition and hydration therapy as well as management of abdominal pain are important supportive treatment measures.
Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Cancer of the gallbladder is rare. It is more common in women and Native Americans. Symptoms include - Jaundice (yellowing of the skin and whites of the eyes) - Pain above the stomach - Fever - Nausea and vomiting - Bloating - Lumps in the abdomen It is hard to diagnose gallbladder cancer in its early stages. Sometimes doctors find it when they remove the gallbladder for another reason. But people with gallstones rarely have gallbladder cancer. Because it is often found late, it can be hard to treat gallbladder cancer. Treatment options include surgery, chemotherapy, radiation, or a combination. NIH: National Cancer Institute
How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain. When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain. Myelin usually forms a protective covering around brain cells. In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement.
Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking. Additional features of ring chromosome 14 syndrome can include slow growth and short stature, a small head (microcephaly), puffy hands and/or feet caused by a buildup of fluid (lymphedema), and subtle differences in facial features. Some affected individuals have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Abnormalities of the retina, the specialized tissue at the back of the eye that detects light and color, have also been reported in some people with this condition. These changes typically do not affect vision. Major birth defects are rarely seen with ring chromosome 14 syndrome.
TAR syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell are altered. In this disorder, either both copies of the RBM8A gene in each cell have mutations or, more commonly, one copy of the gene has a mutation and the other is lost as part of a deleted segment on chromosome 1. The affected individual usually inherits an RBM8A gene mutation from one parent. In about 75 percent of cases, the affected person inherits a copy of chromosome 1 with the 200-kb deletion from the other parent. In the remaining cases, the deletion occurs during the formation of reproductive cells (eggs and sperm) or in early fetal development. Although parents of an individual with TAR syndrome can carry an RBM8A gene mutation or a 200-kb deletion, they typically do not show signs and symptoms of the condition.
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.
What causes cerebrotendinous xanthomatosis? Cerebrotendinous xanthomatosis is caused by mutations in the CYP27A1 gene. This condition is inherited in an autosomal recessive pattern.
Nocardiosis is a rare disorder that affects the brain, skin, and/or lungs. It occurs mainly in people with a weakened immune system. This condition usually starts in the lungs and can spread to other body organs. Affected individuals usually experience problems with their lungs (chest pain, coughing up blood, fevers), brain (headaches and seizures), and skin (skin infections, ulcers, and abscesses). The nocardia bacteria are found in soil around the world. People contract this disease by either inhaling contaminated dust or if soil containing nocardia bacteria get into an open wound. While anyone can contract this condition, people with a weakened immune system or chronic lung disease are at greatest risk of this condition.
The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 130 people worldwide have been diagnosed with this disorder.
Is hyper IgD syndrome inherited? Hyper IgD syndrome is inherited in an autosomal recessive manner, 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. About one half of patients have a positive family history.
Hypocomplementemic urticarial vasculitis (HUV) is a rare form of cutaneous small-vessel vasculitis characterized by recurrent episodes of urticaria and painful, tender, burning or itchy skin lesions, often associated with extracutaneous involvement but usually with no significant peripheral nerve damage. Patients with this condition are likely to have systemic involvement, including angioedema, arthralgias, pulmonary disease, abdominal or chest pain, fever, renal disease, and episcleritis. Hypocomplementemic urticarial vasculitis is thought be an autoimmune response involving a specific region of complement 1 (C1). It can present as or precede a syndrome that includes obstructive pulmonary disease , uveitis, systemic lupus erythematous (SLE), Sjgren's syndrome, or cryoglobulinemia (which is closely linked with hepatitis B or hepatitis C virus infection). Some cases of hypocomplementemic urticarial vasculitis respond to therapies commonly used for the treatment of SLE, including low-dose prednisone, hydroxychloroquine, dapsone, or other immunomodulatory agents.
Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. This estimate includes X-linked infantile spasm syndrome as well as infantile spasms that have other causes.