[System] The assistant is a factual and informative medical chatbot.

[User] What causes Heart Disease in Women ?

[Assistant]
Research suggests thatcoronary heart disease(CHD) begins with damage to the lining and inner layers of the coronary (heart) arteries. Several factors contribute to this damage. They include:

Smoking, including secondhand smoke

High amounts of certain fats andcholesterol in the blood

High blood pressure

High amounts of sugar in the blood due to insulin resistance or diabetes

Blood vessel inflammation

Plaque may begin to build up where the arteries are damaged. The buildup of plaque in the coronary arteries may start in childhood.

Over time, plaque can harden or rupture (break open). Hardened plaque narrows the coronary arteries and reduces the flow of oxygen-rich blood to the heart. This can cause chest pain or discomfort calledangina.

If the plaque ruptures, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots.

Blood clots can further narrow the coronary arteries and worsenangina. If a clot becomes large enough, it can mostly or completely block a coronary artery and cause a heart attack.

In addition to the factors above, low estrogen levels before or after menopause may play a role in causingcoronary microvascular disease(MVD). Coronary MVD is heart disease that affects the heart's tiny arteries.

The cause of broken heart syndrome isn't yet known. However, a sudden release of stress hormones may play a role in causing the disorder. Most cases of broken heart syndrome occur in women who have gone through menopause.


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[User] What are the genetic changes related to early-onset glaucoma ?

[Assistant] Approximately 10 percent to 33 percent of people with juvenile open-angle glaucoma have mutations in the MYOC gene. MYOC gene mutations have also been detected in some people with primary congenital glaucoma. The MYOC gene provides instructions for producing a protein called myocilin. Myocilin is found in certain structures of the eye, called the trabecular meshwork and the ciliary body, that regulate the intraocular pressure.  Researchers believe that myocilin functions together with other proteins as part of a protein complex. Mutations may alter the protein in such a way that the complex cannot be formed. Defective myocilin that is not incorporated into functional complexes may accumulate in the trabecular meshwork and ciliary body. The excess protein may prevent sufficient flow of fluid from the eye, resulting in increased intraocular pressure and causing the signs and symptoms of early-onset glaucoma.  Between 20 percent and 40 percent of people with primary congenital glaucoma have mutations in the CYP1B1 gene. CYP1B1 gene mutations have also been detected in some people with juvenile open-angle glaucoma. The CYP1B1 gene provides instructions for producing a form of the cytochrome P450 protein. Like myocilin, this protein is found in the trabecular meshwork, ciliary body, and other structures of the eye.  It is not well understood how defects in the CYP1B1 protein cause signs and symptoms of glaucoma. Recent studies suggest that the defects may interfere with the early development of the trabecular meshwork. In the clear covering of the eye (the cornea), the CYP1B1 protein may also be involved in a process that regulates the secretion of fluid inside the eye. If this fluid is produced in excess, the high intraocular pressure characteristic of glaucoma may develop.  The CYP1B1 protein may interact with myocilin. Individuals with mutations in both the MYOC and CYP1B1 genes may develop glaucoma at an earlier age and have more severe symptoms than do those with mutations in only one of the genes. Mutations in other genes may also be involved in early-onset glaucoma.


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[User] What is (are) Narcolepsy ?

[Assistant] Narcolepsy is a chronic neurological disorder caused by the brain's inability to regulate sleep-wake cycles normally. At various times throughout the day, people with narcolepsy experience irresistable bouts ofsleep. If the urge becomes overwhelming, individuals will fall asleep for periods lasting from a few seconds to several minutes. In rare cases, some people may remain asleep for an hour or longer. In addition to excessive daytime sleepiness (EDS), three other major symptoms frequently characterize narcolepsy: cataplexy, or the sudden loss of voluntary muscle tone; vivid hallucinations during sleep onset or upon awakening; and brief episodes of total paralysis at the beginning or end of sleep. Narcolepsy is not definitively diagnosed in most patients until 10 to 15 years after the first symptoms appear. The cause of narcolepsy remains unknown. It is likely that narcolepsy involves multiple factors interacting to cause neurological dysfunction and sleep disturbances.


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[User] What are the treatments for Danon disease ?

[Assistant] These resources address the diagnosis or management of Danon disease:  - American Heart Association: Dilated Cardiomyopathy  - Genetic Testing Registry: Danon disease  - KidsHealth from Nemours: Getting an EKG  - Swedish Information Centre for Rare Diseases   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) Paroxysmal nocturnal hemoglobinuria ?

[Assistant] Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH. The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia.


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[User] What are the treatments for thiamine-responsive megaloblastic anemia syndrome ?

[Assistant] 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


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[User] What is (are) Q fever ?

[Assistant] Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long periods in the environment. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, and excreta of infected animals. Other modes of transmission to humans, including tick bites, ingestion of unpasteurized milk or dairy products, and human to human transmission, are rare. Humans are often very susceptible to the disease, and very few organisms may be required to cause infection. In less than 5% of cases the affected people with acute Q fever infection develop a chronic Q fever. Treatment of the acute form is made with antibiotics. The chronic form's treatment depend on the symptoms.


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[User] What are the treatments for Pilomatrixoma ?

[Assistant] How might a pilomatrixoma be treated? Pilomatrixomas are usually surgically removed (excised). In most cases, the tumors do not grow back (recur) after surgery, unless the removal was incomplete.


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[User] What is (are) Fowler's syndrome ?

[Assistant] Fowlers syndrome is characterized by urinary retention associated with abnormal electromyographic activity in young women in the absence of overt neurologic disease. Some women with this syndrome have polycystic ovaries as well.


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[User] What are the symptoms of Santos Mateus Leal syndrome ?

[Assistant] What are the signs and symptoms of Santos Mateus Leal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Santos Mateus Leal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aganglionic megacolon 90% Foot polydactyly 90% Cognitive impairment 50% Hypertelorism 50% Postaxial hand polydactyly 50% Renal hypoplasia/aplasia 50% Sensorineural hearing impairment 50% Autosomal recessive inheritance - Hand polydactyly - Hearing impairment - Unilateral renal agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Renal tubular acidosis with deafness ?

[Assistant] Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.


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[User] What are the symptoms of Alpha-1 Antitrypsin Deficiency ?

[Assistant]
The first lung-related symptoms of alpha-1 antitrypsin (AAT) deficiency may include shortness of breath, less ability to be physically active, and wheezing. These signs and symptoms most often begin between the ages of 20 and 40.

Other signs and symptoms may include repeated lung infections, tiredness, a rapid heartbeat upon standing, vision problems, and weight loss.

Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Signs and symptoms of emphysema include problems breathing, wheezing, and a chronic (ongoing) cough.

At first, many people who have AAT deficiency are diagnosed with asthma. This is because wheezing also is a symptom of asthma. Also, people who have AAT deficiency respond well to asthma medicines.


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[User] What are the treatments for mucopolysaccharidosis type III ?

[Assistant] These resources address the diagnosis or management of mucopolysaccharidosis type III:  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-B  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-C  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-D  - MedlinePlus Encyclopedia: Sanfilippo Syndrome  - National MPS Society: A Guide to Understanding MPS III   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


[System] The assistant is a factual and informative medical chatbot.

[User] What are the symptoms of Lattice corneal dystrophy type 1 ?

[Assistant] What are the signs and symptoms of Lattice corneal dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Lattice corneal dystrophy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Lattice corneal dystrophy - Progressive visual loss - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Kallmann syndrome ?

[Assistant] Kallmann syndrome (KS) is a condition characterized primarily by hypogonadotropic hypogonadism (HH) and absent or diminished sense of smell (anosmia or hyposmia, respectively). HH is present from birth and is due to deficiency of gonadotropin-releasing hormone (GnRH). KS is often diagnosed at puberty due to lack of sexual development, but may be suspected in male infants with undescended testicles or an unusually small penis. Untreated adult males may have decreased bone density and muscle mass; decreased testicular volume; erectile dysfunction; diminished libido; and infertility. Untreated adult females almost always have absent menstruation with normal, little, or no breast development. In rare cases, features may include failure of kidney development (renal agenesis); hearing impairment; cleft lip or palate; and/or dental abnormalities. Most cases of KS are sporadic but some types are familial. The inheritance pattern differs depending on the genetic cause. Treatment includes hormone replacement therapy for sexual development. Fertility can be achieved in most cases.


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[User] What are the symptoms of Stickler syndrome, type 2 ?

[Assistant] What are the signs and symptoms of Stickler syndrome, type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Stickler syndrome, type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the vitreous humor 90% Cataract 90% Myopia 90% Opacification of the corneal stroma 90% Retinal detachment 90% Sensorineural hearing impairment 90% Cleft palate 50% Retinopathy 50% Anteverted nares - Arachnodactyly - Arthropathy - Autosomal dominant inheritance - Bifid uvula - Depressed nasal bridge - Flat midface - Glaucoma - Joint hypermobility - Long fingers - Malar flattening - Pierre-Robin sequence - Spondyloepiphyseal dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is Brachydactyly type B inherited ?

[Assistant] How is brachydactyly type B inherited? Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this condition to their children.


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[User] What are the symptoms of Febrile infection-related epilepsy syndrome ?

[Assistant] What are the signs and symptoms of Febrile infection-related epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Developmental regression 90% EEG abnormality 90% Reduced consciousness/confusion 90% Seizures 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Myalgia 50% Sinusitis 50% Autoimmunity 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is (are) Frostbite ?

[Assistant] Frostbite is an injury to the body that is caused by freezing. It most often affects the nose, ears, cheeks, chin, fingers, or toes. Frostbite can permanently damage the body, and severe cases can lead to amputation.    Signs of frostbite include       - A white or grayish-yellow skin area    - Skin that feels unusually firm or waxy    - Numbness       If you have symptoms of frostbite, seek medical care. But if immediate medical care isn't available, here are steps to take:       - Get into a warm room as soon as possible.    - Unless absolutely necessary, do not walk on frostbitten feet or toes. Walking increases the damage.    - Put the affected area in warm - not hot - water.    - You can also warm the affected area using body heat. For example, use your armpit to warm frostbitten fingers.     - Don't rub the frostbitten area with snow or massage it at all. This can cause more damage.     - Don't use a heating pad, heat lamp, or the heat of a stove, fireplace, or radiator for warming. Since frostbite makes an area numb, you could burn it.       Centers for Disease Control and Prevention


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[User] How to diagnose Pars planitis ?

[Assistant] How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or "inflammatory exudate"). If these clusters are located on the pars plana, they are known as snowbanks. Snowbanks are considered a "hallmark" sign of pars planitis. It is often recommended that people over age 25 with pars planitis have an MRI of their brain and spine to rule out multiple sclerosis.


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[User] What are the treatments for Binswanger's disease ?

[Assistant] How is Binswanger's disease treated? The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. Successful management of hypertension and diabetes can slow the progression of atherosclerosis, which can delay the progression of Binswanger's disease.


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[User] How to diagnose Von Hippel-Lindau disease ?

[Assistant] How is von Hippel-Lindau (VHL) disease diagnosed? The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene. Tests that may be used to establish a clinical diagnosis include: MRI of the brain and spinal cord fundoscopy ultrasound examination or MRI of the abdomen blood and urinary catecholamine metabolites.


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[User] What are the genetic changes related to alkaptonuria ?

[Assistant] Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in connective tissues, which causes cartilage and skin to darken. Over time, a buildup of this substance in the joints leads to arthritis. Homogentisic acid is also excreted in urine, making the urine turn dark when exposed to air.


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[User] How many people are affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ?

[Assistant] CADASIL is likely a rare condition; however, its prevalence is unknown.


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[User] What is (are) Sjogren's Syndrome ?

[Assistant] Sjogren's syndrome is a disease that causes dryness in your mouth and eyes. It can also lead to dryness in other places that need moisture, such as your nose, throat and skin. Most people who get Sjogren's syndrome are older than 40. Nine of 10 are women. Sjogren's syndrome is sometimes linked to rheumatic problems such as rheumatoid arthritis.    Sjogren's syndrome is an autoimmune disease. If you have an autoimmune disease, your immune system, which is supposed to fight disease, mistakenly attacks parts of your own body. In Sjogren's syndrome, your immune system attacks the glands that make tears and saliva. It may also affect your joints, lungs, kidneys, blood vessels, digestive organs and nerves. The main symptoms are:       -  Dry eyes    -  Dry mouth       Treatment focuses on relieving symptoms.     NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases


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[User] What is (are) Hearing Loss ?

[Assistant] Presbycusis is common in older adults. Presbycusis comes on gradually as a person ages and mostly affects people over 50. Doctors do not know why presbycusis happens, but it seems to run in families. Presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. This type of hearing loss involves damage to the inner ear and is permanent. Tinnitus, also common in older people, is the ringing, roaring, clicking, hissing, or buzzing sound in the ears frequently caused by presbycusis, exposure to loud noise or certain medications. Tinnitus can accompany any type of hearing loss. It also can be a sign of other important health problems, too, such as allergies and problems in the heart and blood vessels. Tinnitus may come and go, or stop altogether.


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[User] What are the treatments for Darier disease ?

[Assistant] These resources address the diagnosis or management of Darier disease:  - Genetic Testing Registry: Keratosis follicularis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the genetic changes related to spastic paraplegia type 4 ?

[Assistant] Mutations in the SPAST gene cause spastic paraplegia type 4. The SPAST gene provides instructions for producing a protein called spastin. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules are also involved in transporting cell components and facilitating cell division. Spastin likely helps restrict microtubule length and disassemble microtubule structures when they are no longer needed. Mutations in spastin impair the microtubules' ability to transport cell components, especially in nerve cells; researchers believe this contributes to the major signs and symptoms of spastic paraplegia type 4.


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[User] What are the symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia ?

[Assistant] What are the signs and symptoms of Microcephaly pontocerebellar hypoplasia dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly pontocerebellar hypoplasia dyskinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Death in childhood 7.5% Cerebral cortical atrophy 5% Abnormality of the periventricular white matter - Autosomal recessive inheritance - Congenital onset - Extrapyramidal dyskinesia - Gliosis - Hypoplasia of the pons - Impaired smooth pursuit - Opisthotonus - Poor suck - Progressive microcephaly - Restlessness - Seizures - Severe global developmental delay - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] How to prevent Childhood Nephrotic Syndrome ?

[Assistant] Researchers have not found a way to prevent childhood nephrotic syndrome when the cause is idiopathic or congenital.


[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) Transposition of the great arteries ?

[Assistant] Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.


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[User] What are the symptoms of Dermoids of cornea ?

[Assistant] What are the signs and symptoms of Dermoids of cornea? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermoids of cornea. 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) Opacification of the corneal stroma 90% Visual impairment 90% Abnormality of the pupil 50% Abnormality of the eye - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What causes Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?

[Assistant] What causes periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA)? The cause of PFAPA is unknown, although viral or autoimmune causes have been suggested.


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[User] What is (are) Tuberous Sclerosis ?

[Assistant] Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include       - Skin problems, such as light patches and thickened skin    - Seizures    - Behavior problems    - Intellectual disabilities    - Kidney problems       Some people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening.    Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications.    NIH: National Institute of Neurological Disorders and Stroke


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[User] What is (are) Prostate Cancer ?

[Assistant] Surgery is a common treatment for early stage prostate cancer. It is used to remove the cancer. The surgeon may remove the entire prostate -- a type of surgery called radical prostatectomy -- or, in some cases, remove only part of it. Sometimes the surgeon will also remove nearby lymph nodes. Side effects may include lack of sexual function (impotence), or problems holding urine (incontinence).


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[User] How to diagnose Ehlers-Danlos syndrome, kyphoscoliosis type ?

[Assistant] How is Ehlers-Danlos syndrome, kyphoscoliosis type diagnosed? A diagnosis of Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is typically based on the presence of characteristic signs and symptoms. The following tests may then be recommended to confirm the diagnosis: Urine tests and/or a skin biopsy to detect deficiencies in certain enzymes that are important for collagen formation Genetic testing for a change (mutation) in the PLOD1 gene


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[User] What are the treatments for Alopecia universalis ?

[Assistant] How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatment options are somewhat limited. The most common treatments include corticosteriods and topical (applied to the skin) immunotherapy. There are possible side effects of corticosteriods which should be discussed with a physician. Also, regrown hair is likely to fall out when the corticosteriods are stopped. About 40% of people treated with topical immunotherapy will regrow scalp hair after about six months of treatment. Those who do successfully regrow scalp hair need to continue the treatment to maintain the hair regrowth. While these treatments may promote hair growth, they do not prevent new loss or cure the underlying disease. For those who do not respond to treatment, wigs are an option.


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[User] What is (are) ataxia with vitamin E deficiency ?

[Assistant] Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.


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[User] what research (or clinical trials) is being done for Kidney Disease ?

[Assistant] Many areas of Research Researchers are working at every stage of kidney disease to improve diagnosis and treatment, including -  trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease  -  trying to find more effective medications to treat kidney disease and its risk factors, and   -  improving dialysis and the results of kidney transplantation. trying to find a better way to identify who is at greatest risk for rapidly progressing kidney disease trying to find more effective medications to treat kidney disease and its risk factors, and improving dialysis and the results of kidney transplantation. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Interaction With Other Diseases Another focus is on the interaction between kidney disease, diabetes, and cardiovascular (heart) disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention. Disease Progression NIDDK is sponsoring a major study -- the Chronic Renal Insufficiency Cohort (CRIC) study -- to learn more about how kidney disease progresses. CRIC is following 6,000 adults with mild to moderate kidney disease. About half have diabetes. It is believed that some CRIC study participants' kidney function will decline more rapidly than others', and that some will develop cardiovascular disease while others won't. The goal of the study is to identify the factors linked to rapid decline of kidney function and the development of cardiovascular disease. The data and specimens collected from study participants will be available to other researchers who are studying kidney disease and cardiovascular disease. The CRIC study will allow future investigation into the role of genetic, environmental, behavioral, nutritional, and other factors in kidney disease.  Learn more about the CRIC Study.  Improving Transplants In the area of transplantation, researchers are working to develop new drugs that help the body accept donated organs. The goal is to help transplanted kidneys survive longer and work better. NIDDK scientists are also developing new techniques to improve the body's tolerance for foreign tissue even before the donated kidney is transplanted. This could help reduce or eliminate the need for drugs that suppress the immune system, which could reduce transplantation costs and complications. In the future, scientists may even develop an artificial kidney for implantation.


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[User] How many people are affected by achromatopsia ?

[Assistant] Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete achromatopsia is more common than incomplete achromatopsia.  Complete achromatopsia occurs frequently among Pingelapese islanders, who live on one of the Eastern Caroline Islands of Micronesia. Between 4 and 10 percent of people in this population have a total absence of color vision.


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[User] What causes Chronic Fatigue Syndrome (CFS) ?

[Assistant]
Despite a vigorous search, scientists have not yet identified what causes CFS. While a single cause for CFS may yet be identified, another possibility is that CFS has multiple causes. Conditions that have been studied to determine if they cause or trigger the development of CFS include infections, immune disorders, stress, trauma, and toxins.
  Infection

Various types of infections have been studied to determine if they might cause or trigger CFS:

   - Candida albicans, a fungus that causes yeast infections
   - Mycoplasma, a cause of atypical pneumonia
   - Ross River virus, which causes Ross River Fever, a mosquito-borne tropical disease

  Could One Type of Infection Lead to CFS?

Researchers from around the world have studied if a single type of infection might be the cause of CFS, analyzed the data, and not yet found any association between CFS and infection. Researchers are still analyzing samples from CFS patients using the latest molecular methods to search for previously unknown infections (pathogen discovery). To date, these studies suggest that no one infection or pathogen causes CFS and that the illness may be triggered by a variety of illnesses or conditions. In fact, infection with Epstein-Barr virus, Ross River virus, and Coxiella burnetti will lead to a post-infective condition that meets the criteria for CFS in approximately 10-12% of cases. People who had severe symptoms when they became infected were more likely than those with mild symptoms to later develop CFS symptoms. The possibility remains that there may be a variety of different ways in which patients can develop CFS.
  Immune System and Allergies

Studies have looked to see if changes in a person's immune system might lead to CFS. The findings have been mixed. Similarities in symptoms from immune responses to infection and CFS lead to hypotheses that CFS may be caused by stress or a viral infection, which may lead to the chronic production of cytokines and then to CFS.

Antibodies against normal parts of the body (auto-antibodies) and immune complexes have been seen in some CFS patients. However, no associated tissue damage typical of autoimmune disease has been described in CFS patients. The opportunistic infections or increased risk for cancer observed in persons with immunodeficiency diseases or in immunosuppressed individuals is also not observed in CFS.

T-cell activation markers have been reported to be different between groups of CFS patients and healthy persons, but not all investigators have consistently observed these differences.

Allergic diseases and secondary illnesses such as sinusitis could be one predisposing factor for CFS, but not all CFS patients have allergies. Many patients do, however, report intolerances for certain substances that may be found in foods or over-the-counter medications, such as alcohol.

  Hypothalamic-Pituitary Adrenal (HPA) Axis

The central nervous system plays an important role in CFS. Physical or emotional stress, which is commonly reported as a pre-onset condition in CFS patients, alters the activity of the hypothalamic-pituitary-adrenal axis, or HPA axis, leading to altered release of corticotrophin-releasing hormone (CRH), cortisol, and other hormones. These hormones can influence the immune system and many other body systems.

Some CFS patients produce lower levels of cortisol than do healthy people. Similar hormonal abnormalities have also been observed among CFS patients and in persons with related disorders like fibromyalgia. Cortisol suppresses inflammation and cellular immune activation, and reduced levels might relax constraints on inflammatory processes and immune cell activation. Even though CFS patients had lower levels of cortisol than healthy individuals, their cortisol levels were still within the acceptable range of what is considered normal. Therefore, doctors cannot use cortisol levels as a way to diagnose CFS.

  Abnormally Low Blood Pressure and Lightheadedness (Neurally Mediated Hypotension)

Disturbances in the autonomic regulation of blood pressure and pulse have been found in CFS patients. This problem with maintaining blood pressure can be diagnosed by using tilt table testing, which involves laying the patient horizontally on a table and then tilting the table upright to 70 degrees for 45 minutes while monitoring blood pressure and heart rate. Persons with neurally mediated hypotension (NMH) or postural orthostatic tachycardia (POTS) will develop lower blood pressure under these conditions, as well as other characteristic symptoms, such as lightheadedness, visual dimming, or a slow response to verbal stimuli. Others may develop an unusually rapid heart rate also associated with the symptoms of the syndrome. Many CFS patients experience lightheadedness or worsened fatigue when they stand for prolonged periods or when in warm places, such as in a hot shower -- all circumstances that are known to trigger NMH or POTS.

NMH and/or POTS share some of the symptoms of CFS. They should be considered in a CFS patients whose symptoms are worsened with changes in position, after eating, following unusual amounts of or inadequate fluid intake, or increases in activity. Not all patients with CFS will have these conditions, however.

  Nutritional Deficiency

There is no published scientific evidence that CFS is caused by a nutritional deficiency. While evidence is currently lacking for nutritional defects in CFS patients, it should also be added that a balanced diet can be favorable to better health in general and would be expected to benefit a person with any chronic illness.


[System] The assistant is a factual and informative medical chatbot.

[User] what research (or clinical trials) is being done for Anal Cancer ?

[Assistant]
New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     Radiosensitizers     Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells.

                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.

                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.


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[User] Is Early-onset, autosomal dominant Alzheimer disease inherited ?

[Assistant] How is early-onset, autosomal dominant Alzheimer disease inherited? Early-onset, autosomal dominant Alzheimer disease is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with this condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child.


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[User] What are the treatments for Lennox-Gastaut Syndrome ?

[Assistant] Treatment for Lennox-Gastaut syndrome includes clobazam and anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children who improve initially may later show tolerance to a drug or have uncontrollable seizures.


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[User] How many people are affected by globozoospermia ?

[Assistant] Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility.


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[User] What is (are) Diabetes, Heart Disease, and Stroke ?

[Assistant] Prediabetes is a condition in which blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is also called impaired fasting glucose or impaired glucose tolerance. Many people with prediabetes develop type 2 diabetes within 10 years. In addition, they are at risk for heart disease and stroke. With modest weight loss and moderate physical activity, people with prediabetes can delay or prevent type 2 diabetes and lower their risk of heart disease and stroke.


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[User] What causes Dry Mouth ?

[Assistant] Yes. More than 400 medicines, including some over-the-counter medications, can cause the salivary glands to make less saliva, or to change the composition of the saliva so that it can't perform the functions it should. As an example, medicines for urinary incontinence, allergies, high blood pressure, and depression often cause dry mouth.


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[User] What is (are) celiac disease ?

[Assistant] Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten-free diet, inflammation resulting from immune system overactivity may cause a wide variety of signs and symptoms involving many parts of the body.  Celiac disease can develop at any age after an individual starts eating foods containing gluten. The classic symptoms of the condition result from inflammation affecting the gastrointestinal tract. This inflammation damages the villi, which are small, finger-like projections that line the small intestine and provide a greatly increased surface area to absorb nutrients. In celiac disease, the villi become shortened and eventually flatten out. Intestinal damage causes diarrhea and poor absorption of nutrients, which may lead to weight loss. Abdominal pain, swelling (distention), and food intolerances are common in celiac disease. Inflammation associated with celiac disease may lead to an increased risk of developing certain gastrointestinal cancers such as cancers of the small intestine or esophagus.  Inflammation and poor nutrient absorption may lead to problems affecting many other organs and systems of the body in affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been associated with celiac disease; these include migraine headaches, depression, attention deficit hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people with celiac disease have one or more of these varied health problems but do not have gastrointestinal symptoms. This form of the condition is called nonclassic celiac disease. Researchers now believe that nonclassic celiac disease is actually more common than the classic form.  Celiac disease often goes undiagnosed because many of its signs and symptoms are nonspecific, which means they may occur in many disorders. Most people who have one or more of these nonspecific health problems do not have celiac disease. On average, a diagnosis of celiac disease is not made until 6 to 10 years after symptoms begin.  Some people have silent celiac disease, in which they have no symptoms of the disorder. However, people with silent celiac disease do have immune proteins in their blood (antibodies) that are common in celiac disease. They also have inflammatory damage to their small intestine that can be detected with a biopsy.  In a small number of cases, celiac disease does not improve with a gluten-free diet and progresses to a condition called refractory sprue. Refractory sprue is characterized by chronic inflammation of the gastrointestinal tract, poor absorption of nutrients, and an increased risk of developing a type of cancer of the immune cells called T-cell lymphoma.


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[User] What are the symptoms of Microsomia hemifacial radial defects ?

[Assistant] What are the signs and symptoms of Microsomia hemifacial radial defects? The Human Phenotype Ontology provides the following list of signs and symptoms for Microsomia hemifacial radial defects. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the radius 90% Aplasia/Hypoplasia of the thumb 90% Facial asymmetry 90% Atresia of the external auditory canal 50% Cognitive impairment 50% Complete atrioventricular canal defect 50% Preauricular skin tag 50% Renal hypoplasia/aplasia 50% Sacrococcygeal pilonidal abnormality 50% Sensorineural hearing impairment 50% Short stature 50% Vertebral segmentation defect 50% Abnormality of the genital system 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the lungs 7.5% Cleft eyelid 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Ectopic anus 7.5% Maternal diabetes 7.5% Non-midline cleft lip 7.5% Preaxial hand polydactyly 7.5% Triphalangeal thumb 7.5% Wide mouth 7.5% Autosomal dominant inheritance - Complete duplication of thumb phalanx - Microtia - Preauricular pit - Short mandibular rami - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What is the outlook for Orthostatic Hypotension ?

[Assistant] The prognosis for individuals with orthostatic hypotension depends on the underlying cause of the condition.


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[User] Is Silver syndrome inherited ?

[Assistant] Silver syndrome 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 these cases, the affected person inherits the mutation from one affected parent. However, some people who inherit the altered gene never develop features of Silver syndrome. (This situation is known as reduced penetrance.) It is unclear why some people with a mutated gene develop the disease and other people with a mutated gene do not.  Rarely, Silver syndrome is caused by new mutations in the gene and occurs in people with no history of the disorder in their family.


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[User] What causes Prolactinoma ?

[Assistant]
In some people, high blood levels of prolactin can be traced to causes other than prolactinoma.

Prescription drugs. Prolactin secretion in the pituitary is normally suppressed by the brain chemical dopamine. Drugs that block the effects of dopamine at the pituitary or deplete dopamine stores in the brain may cause the pituitary to secrete prolactin. These drugs include older antipsychotic medications such as trifluoperazine (Stelazine) and haloperidol (Haldol); the newer antipsychotic drugs risperidone (Risperdal) and molindone (Moban); metoclopramide (Reglan), used to treat gastroesophageal reflux and the nausea caused by certain cancer drugs; and less often, verapamil, alpha-methyldopa (Aldochlor, Aldoril), and reserpine (Serpalan, Serpasil), used to control high blood pressure. Some antidepressants may cause hyperprolactinemia, but further research is needed.

Other pituitary tumors. Other tumors arising in or near the pituitary may block the flow of dopamine from the brain to the prolactin-secreting cells. Such tumors include those that cause acromegaly, a condition caused by too much growth hormone, and Cushing's syndrome, caused by too much cortisol. Other pituitary tumors that do not result in excess hormone production may also block the flow of dopamine.

Hypothyroidism. Increased prolactin levels are often seen in people with hypothyroidism, a condition in which the thyroid does not produce enough thyroid hormone. Doctors routinely test people with hyperprolactinemia for hypothyroidism.

Chest involvement. Nipple stimulation also can cause a modest increase in the amount of prolactin in the blood. Similarly, chest wall injury or shingles involving the chest wall may also cause hyperprolactinemia.


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[User] How to diagnose Heart Valve Disease ?

[Assistant]
Your primary care doctor may detect a heart murmur or other signs of heart valve disease. However, a cardiologist usually will diagnose the condition. A cardiologist is a doctor who specializes in diagnosing and treating heart problems.

To diagnose heart valve disease, your doctor will ask about your signs and symptoms. He or she also will do a physical exam and look at the results from tests and procedures.

Physical Exam

Your doctor will listen to your heart with a stethoscope. He or she will want to find out whether you have a heart murmur that's likely caused by a heart valve problem.

Your doctor also will listen to your lungs as you breathe to check for fluid buildup. He or she will check for swollen ankles and other signs that your body is retaining water.

Tests and Procedures

Echocardiography (echo) is the main test for diagnosing heart valve disease. But an EKG (electrocardiogram) or chest x ray commonly is used to reveal certain signs of the condition. If these signs are present, echo usually is done to confirm the diagnosis.

Your doctor also may recommend other tests and procedures if you're diagnosed with heart valve disease. For example, you may have cardiac catheterization, (KATH-eh-ter-ih-ZA-shun), stress testing, or cardiac MRI (magnetic resonance imaging). These tests and procedures help your doctor assess how severe your condition is so he or she can plan your treatment.

EKG

This simple test detects and records the heart's electrical activity. An EKG can detect an irregular heartbeat and signs of a previous heart attack. It also can show whether your heart chambers are enlarged.

An EKG usually is done in a doctor's office.

Chest X Ray

This test can show whether certain sections of your heart are enlarged, whether you have fluid in your lungs, or whether calcium deposits are present in your heart.

A chest x ray helps your doctor learn which type of valve defect you have, how severe it is, and whether you have any other heart problems.

Echocardiography

Echo uses sound waves to create a moving picture of your heart as it beats. A device called a transducer is placed on the surface of your chest.

The transducer sends sound waves through your chest wall to your heart. Echoes from the sound waves are converted into pictures of your heart on a computer screen.

Echo can show:

The size and shape of your heart valves and chambers

How well your heart is pumping blood

Whether a valve is narrow or has backflow

Your doctor may recommend transesophageal (tranz-ih-sof-uh-JEE-ul) echo, or TEE, to get a better image of your heart.

During TEE, the transducer is attached to the end of a flexible tube. The tube is guided down your throat and into your esophagus (the passage leading from your mouth to your stomach). From there, your doctor can get detailed pictures of your heart.

You'll likely be given medicine to help you relax during this procedure.

Cardiac Catheterization

For this procedure, a long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. Your doctor uses x-ray images to guide the catheter.

Through the catheter, your doctor does diagnostic tests and imaging that show whether backflow is occurring through a valve and how fully the valve opens. You'll be given medicine to help you relax, but you will be awake during the procedure.

Your doctor may recommend cardiac catheterization if your signs and symptoms of heart valve disease aren't in line with your echo results.

The procedure also can help your doctor assess whether your symptoms are due to specific valve problems or coronary heart disease. All of this information helps your doctor decide the best way to treat you.

Stress Test

During stress testing, you exercise to make your heart work hard and beat fast while heart tests and imaging are done. If you can't exercise, you may be given medicine to raise your heart rate.

A stress test can show whether you have signs and symptoms of heart valve disease when your heart is working hard. It can help your doctor assess the severity of your heart valve disease.

Cardiac MRI

Cardiac MRI uses a powerful magnet and radio waves to make detailed images of your heart. A cardiac MRI image can confirm information about valve defects or provide more detailed information.

This information can help your doctor plan your treatment. An MRI also may be done before heart valve surgery to help your surgeon plan for the surgery.


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[User] How many people are affected by van der Woude syndrome ?

[Assistant] Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from variations in a single gene, and this condition accounts for approximately 1 in 50 such cases.


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[User] What are the genetic changes related to benign recurrent intrahepatic cholestasis ?

[Assistant] Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type 1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). These two genes are involved in the release (secretion) of bile, a fluid produced by the liver that helps digest fats.  The ATP8B1 gene provides instructions for making a protein that helps to control the distribution of certain fats, called lipids, in the membranes of liver cells. This function likely plays a role in maintaining an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. Although the mechanism is unclear, mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells. The imbalance of bile acids leads to the signs and symptoms of BRIC1.  The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. Mutations in the ABCB11 gene result in a reduction of BSEP function. This reduction leads to a decrease of bile salt secretion, which causes the features of BRIC2.  The factors that trigger episodes of BRIC are unknown.  Some people with BRIC do not have a mutation in the ATP8B1 or ABCB11 gene. In these individuals, the cause of the condition is unknown.


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[User] What are the treatments for X-linked lymphoproliferative disease ?

[Assistant] These resources address the diagnosis or management of XLP:  - Children's Hospital of Philadelphia  - Gene Review: Gene Review: Lymphoproliferative Disease, X-Linked  - Genetic Testing Registry: Lymphoproliferative syndrome 1, X-linked  - Genetic Testing Registry: Lymphoproliferative syndrome 2, X-linked  - MedlinePlus Encyclopedia: Epstein-Barr Virus Test  - Merck Manual for Healthcare Professionals  - XLP Research Trust: Immunoglobulin Replacement  - XLP Research Trust: Preparing for Bone Marrow Transplant   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What to do for What I need to know about Gas ?

[Assistant]
Your eating habits and diet affect the amount of gas you have. For example, eating and drinking too fast can cause you to swallow more air. And you may have more gas after you eat certain carbohydrates.

Track what you eat and your gas symptoms to find out what foods cause you to have more gas. Avoid or eat less of the foods that cause your gas symptoms.


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[User] What are the genetic changes related to phosphoglycerate mutase deficiency ?

[Assistant] Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.  The version of phosphoglycerate mutase produced from the PGAM2 gene is found primarily in skeletal muscle cells. Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in these cells. This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals.


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[User] What is (are) prion disease ?

[Assistant] Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.


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[User] What is (are) fumarase deficiency ?

[Assistant] Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain. Affected infants may have an abnormally small head size (microcephaly), abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may also experience seizures. Some people with this disorder have unusual facial features, including a prominent forehead (frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes (ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and spleen (hepatosplenomegaly) may also be associated with this disorder, as well as an excess of red blood cells (polycythemia) or deficiency of white blood cells (leukopenia) in infancy. Affected individuals usually survive only a few months, but a few have lived into early adulthood.


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[User] How to prevent Heart Disease in Women ?

[Assistant]
Taking action to control your risk factors can help prevent or delaycoronary heart disease(CHD). Your risk for CHD increases with the number of CHD risk factors you have.

One step you can take is to adopt a heart healthy lifestyle. A heart healthy lifestyle should be part of a lifelong approach to healthy living.

For example, if you smoke, try to quit. Smoking can raise your risk for CHD andheart attackand worsen other CHD risk factors. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke.

For more information about quitting smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's (NHLBI's) "Your Guide to a Healthy Heart."

Following a healthy diet also is an important part of a healthy lifestyle. A healthy diet includes a variety of vegetables and fruits. It also includes whole grains, fat-free or low-fat dairy products, and protein foods, such as lean meats, poultry without skin, seafood, processed soy products, nuts, seeds, beans, and peas.

A healthy diet is low in sodium (salt), added sugars, solid fats, and refined grains. Solid fats are saturated fat and trans fatty acids. Refined grains come from processing whole grains, which results in a loss of nutrients (such as dietary fiber).

The NHLBI's Therapeutic Lifestyle Changes (TLC) and Dietary Approaches to Stop Hypertension (DASH) are two programs that promote healthy eating.

If you'reoverweight or obese, work with your doctor to create a reasonable weight-loss plan. Controlling your weight helps you control CHD risk factors.

Be as physically active as you can. Physical activity can improve your fitness level and your health. Talk with your doctor about what types of activity are safe for you.

For more information about physical activity, go to the Health Topics Physical Activity and Your Heart article and the NHLBI's "Your Guide to Physical Activity and Your Heart."

Know your family history of CHD. If you or someone in your family has CHD, be sure to tell your doctor.

If lifestyle changes aren't enough, you also may need medicines to control your CHD risk factors. Take all of your medicines as prescribed.

For more information about lifestyle changes and medicines, go to "How Is Heart Disease Treated?"


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[User] What is (are) Aplastic Anemia ?

[Assistant] Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. Causes include       - Toxic substances, such as pesticides, arsenic, and benzene    - Radiation therapy and chemotherapy for cancer    - Certain medicines    - Infections such as hepatitis, Epstein-Barr virus, or HIV    - Autoimmune disorders    - Certain inherited conditions    - Pregnancy       In many people, the cause is unknown.    Symptoms include fatigue, weakness, dizziness, and shortness of breath. It can cause heart problems such as an irregular heartbeat, an enlarged heart, and heart failure. You may also have frequent infections and bleeding.    Your doctor will diagnose aplastic anemia based on your medical and family histories, a physical exam, and test results. Once your doctor knows the cause and severity of the condition, he or she can create a treatment plan for you. Treatments include blood transfusions, blood and marrow stem cell transplants, and medicines.    NIH: National Heart, Lung, and Blood Institute


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[User] What is (are) Speech and Language Problems in Children ?

[Assistant] Children vary in their development of speech and language skills. Health professionals have milestones for what's normal. These milestones help determine if a child is on track or if he or she may need extra help. For example, a child usually has one or two words like "Hi," "dog," "Dada," or "Mama" by her first birthday.    Sometimes a delay may be caused by hearing loss, while other times it may be due to a speech or language disorder. Language disorders can mean that the child has trouble understanding what others say or difficulty sharing her thoughts. Children who have trouble producing speech sounds correctly or who hesitate or stutter when talking may have a speech disorder.    If your child's speech or language appears to be delayed, talk to your child's doctor.    NIH: National Institute on Deafness and Other Communication Disorders


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[User] What are the treatments for 2q37 deletion syndrome ?

[Assistant] These resources address the diagnosis or management of 2q37 deletion syndrome:  - Gene Review: Gene Review: 2q37 Microdeletion Syndrome  - Genetic Testing Registry: Brachydactyly-Mental Retardation syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the symptoms of SeSAME syndrome ?

[Assistant] What are the signs and symptoms of SeSAME syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SeSAME syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Short stature 7.5% Chronic axonal neuropathy 5% Peripheral hypomyelination 5% Autosomal recessive inheritance - Cerebellar atrophy - Delayed speech and language development - Dysdiadochokinesis - Enuresis - Hyperaldosteronism - Hypocalciuria - Hypokalemia - Hypokalemic metabolic alkalosis - Hypomagnesemia - Increased circulating renin level - Infantile onset - Intellectual disability - Intention tremor - Muscular hypotonia - Polydipsia - Polyuria - Renal potassium wasting - Renal salt wasting - Renal sodium wasting - Salt craving - Seizures - Sensorineural hearing 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.


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[User] What is (are) Bietti crystalline dystrophy ?

[Assistant] 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.


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[User] How to prevent Hearing Loss ?

[Assistant] Causes of Hearing Loss Hearing loss happens for many reasons. Some people lose their hearing slowly as they age. This condition is called presbycusis. Doctors do not know why presbycusis happens, but it seems to run in families. Another cause is the ear infection otitis media, which can lead to long-term hearing loss if it is not treated. Hearing loss can also result from taking certain medications. "Ototoxic" medications damage the inner ear, sometimes permanently. Some antibiotics are ototoxic. Even aspirin at some dosages can cause problems, but they are temporary. Check with your doctor if you notice a problem while taking a medication. Heredity can cause hearing loss, but not all inherited forms of hearing loss take place at birth. Some forms can show up later in life. In otosclerosis, which is thought to be a hereditary disease, an abnormal growth of bone prevents structures within the ear from working properly. A severe blow to the head also can cause hearing loss. Loud Noise Can Cause Hearing Loss One of the most common causes of hearing loss is loud noise. Loud noise can permanently damage the inner ear. Loud noise also contributes to tinnitus, which is a ringing, roaring, clicking, hissing, or buzzing sound in the ears. Approximately 15 percent (26 million) of Americans between the ages of 20 and 69 have high frequency hearing loss due to exposure to loud sounds or noise at work or in leisure activities. Avoiding Noise-Induced Hearing Loss Noise-induced hearing loss is 100 percent preventable. You can protect your hearing by avoiding noises at or above 85 decibels in loudness, which can damage your inner ear. These include gas lawnmowers, snowblowers, motorcycles, firecrackers, and loud music. Lower the volume on personal stereo systems and televisions. When you are involved in a loud activity, wear earplugs or other hearing protective devices. Be sure to protect children's ears too. Although awareness of noise levels is important, you should also be aware of how far away you are from loud noise and how long you are exposed to it. Avoid noises that are too loud (85 decibels and above). Reduce the sound if you can, or wear ear protection if you cannot. Potential damage from noise is caused by the loudness of the sound and the amount of time you are exposed to it. If you experience tinnitus or have trouble hearing after noise exposure, then you have been exposed to too much noise. Other Ways to Prevent Hearing Loss There are other ways to prevent hearing loss. - If earwax blockage is a problem for you, ask you doctor about treatments you can use at home such as mineral oil, baby oil, glycerin, or commercial ear drops to soften earwax.  - If you suspect that you may have a hole in your eardrum, you should consult a doctor before using such products. A hole in the eardrum can result in hearing loss and fluid discharge.   - The ear infection otitis media  is most common in children, but adults can get it, too. You can help prevent upper respiratory infections -- and a resulting ear infection -- by washing your hands frequently.  - Ask your doctor about how to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious.   - If you take medications, ask your doctor if your medication is ototoxic, or potentially damaging to the ear. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor should help you get the medication you need while trying to reduce unwanted side effects.  If earwax blockage is a problem for you, ask you doctor about treatments you can use at home such as mineral oil, baby oil, glycerin, or commercial ear drops to soften earwax. If you suspect that you may have a hole in your eardrum, you should consult a doctor before using such products. A hole in the eardrum can result in hearing loss and fluid discharge. The ear infection otitis media  is most common in children, but adults can get it, too. You can help prevent upper respiratory infections -- and a resulting ear infection -- by washing your hands frequently. Ask your doctor about how to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. If you take medications, ask your doctor if your medication is ototoxic, or potentially damaging to the ear. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor should help you get the medication you need while trying to reduce unwanted side effects.


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[User] What are the genetic changes related to Werner syndrome ?

[Assistant] Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of copying (replicating) DNA in preparation for cell division. Mutations in the WRN gene often lead to the production of an abnormally short, nonfunctional Werner protein. Research suggests that this shortened protein is not transported to the cell's nucleus, where it normally interacts with DNA. Evidence also suggests that the altered protein is broken down more quickly in the cell than the normal Werner protein. Researchers do not fully understand how WRN mutations cause the signs and symptoms of Werner syndrome. Cells with an altered Werner protein may divide more slowly or stop dividing earlier than normal, causing growth problems. Also, the altered protein may allow DNA damage to accumulate, which could impair normal cell activities and cause the health problems associated with this condition.


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[User] What are the symptoms of Thalamic degeneration, symmetric infantile ?

[Assistant] What are the signs and symptoms of Thalamic degeneration, symmetric infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration, symmetric infantile. 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) Hypertonia 90% Incoordination 90% Respiratory insufficiency 90% Abnormality of neuronal migration 50% Abnormality of the voice 50% Arrhythmia 50% Seizures 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for Pars planitis ?

[Assistant] How might pars planitis be treated? The first approach to treating pars planitis is corticosteroid eye drops or injections near the eye to control inflammation. Non-steroidal anti-inflammatory drugs (NSAIDs, including aspirin) or steroid medications (such as prednisone) can be taken by mouth. If these strategies are not successful, other medications may be given to reduce the body's immune response (medications called immunosuppressants, such as methotrexate).  If medications are not effective, surgery may be considered. Cryotherapy has been performed in affected people to remove eye tissue that has inflammation. Although this surgery has been shown to be effective in restoring clarity of vision, there are concerns that it may cause damage to other parts of the eye. Another surgery, known as vitrectomy, can be done to remove cloudy fluid (vitreous humor) from the eye.


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[User] Is essential thrombocythemia inherited ?

[Assistant] Most cases of essential thrombocythemia are not inherited. Instead, the condition arises from gene mutations that occur in early blood-forming cells after conception. These alterations are called somatic mutations.  Less commonly, essential thrombocythemia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When it is inherited, the condition is called familial essential thrombocythemia.


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[User] What are the symptoms of Deafness nephritis anorectal malformation ?

[Assistant] What are the signs and symptoms of Deafness nephritis anorectal malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness nephritis anorectal malformation. 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) Anal atresia - Autosomal dominant inheritance - Rectovaginal fistula - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is Congenital contractural arachnodactyly inherited ?

[Assistant] How is congenital contractural arachnodactyly inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.


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[User] What are the symptoms of Mannosidosis, beta A, lysosomal ?

[Assistant] What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Hearing impairment 90% Recurrent respiratory infections 90% Seizures 90% Demyelinating peripheral neuropathy 5% Abnormality of metabolism/homeostasis - Aggressive behavior - Angiokeratoma - Autosomal recessive inheritance - Hyperactivity - Increased urinary disaccharide excretion - Intellectual disability - Muscular hypotonia - Neurological speech impairment - Tortuosity of conjunctival vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the treatments for Alzheimer's Disease ?

[Assistant] Currently, no treatment can stop Alzheimer's disease. However, four medications are used to treat its symptoms. These medicines may help maintain thinking, memory, and speaking skills for a limited time. They work by regulating certain chemicals in the brain. Most of these medicines work best for people in the early or middle stages of the disease. For people with mild or moderate Alzheimer's, donepezil (Aricept), rivastigmine (Exelon), or galantamine (Razadyne) may help. Donepezil is also approved to treat symptoms of moderate to severe Alzheimer's. Another drug, memantine (Namenda), is used to treat symptoms of moderate to severe Alzheimer's, although it also has limited effects. All of these medicines have possible side effects. Learn how Alzheimers medications work, how to take them, and where to find more information. Certain medicines and other approaches can help control the behavioral symptoms of Alzheimer's disease. These symptoms include sleeplessness, agitation, wandering, anxiety, anger, and depression. See more about medications used to treat behavioral symptoms. Some medicines must be used with caution.


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[User] What is (are) gyrate atrophy of the choroid and retina ?

[Assistant] Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50.  Most people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period.  Gyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy.  Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses.  In some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness.


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[User] How many people are affected by myotonia congenita ?

[Assistant] Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. This condition is more common in northern Scandinavia, where it occurs in approximately 1 in 10,000 people.


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[User] What are the treatments for familial Mediterranean fever ?

[Assistant] These resources address the diagnosis or management of familial Mediterranean fever:  - Gene Review: Gene Review: Familial Mediterranean Fever  - Genetic Testing Registry: Familial Mediterranean fever   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What is (are) 5-alpha reductase deficiency ?

[Assistant] 5-alpha reductase deficiency is a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes). Their bodies, however, do not produce enough of a hormone called dihydrotestosterone (DHT). DHT has a critical role in male sexual development, and a shortage of this hormone disrupts the formation of the external sex organs before birth.  Many people with 5-alpha reductase deficiency are born with external genitalia that appear female. In other cases, the external genitalia do not look clearly male or clearly female (sometimes called ambiguous genitalia). Still other affected infants have genitalia that appear predominantly male, often with an unusually small penis (micropenis) and the urethra opening on the underside of the penis (hypospadias).  During puberty, people with this condition develop some secondary sex characteristics, such as increased muscle mass, deepening of the voice, development of pubic hair, and a growth spurt. The penis and scrotum (the sac of skin that holds the testes) grow larger. Unlike many men, people with 5-alpha reductase deficiency do not develop much facial or body hair. Most affected males are unable to father a child (infertile).  Children with 5-alpha reductase deficiency are often raised as girls. About half of these individuals adopt a male gender role in adolescence or early adulthood.


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[User] what research (or clinical trials) is being done for Paraneoplastic Syndromes ?

[Assistant] Research on paraneoplastic syndromes is aimed at enhancing scientific understanding and evaluating new therapeutic interventions. Researchers seek to learn what causes the autoimmune response in these disorders. Studies are directed at developing tests that detect the presence of antibodies. Scientists also hope to develop animal models for these diseases, which may be used to determine effective treatment strategies.