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What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. In these people, the exact underlying cause of the condition is unknown. Most likely, there is more than one cause. Scientists suspect that the condition occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Rarely, isolated congenital anosmia can affect more than one family member. This suggests that there may be a genetic component in some cases. One study found that some people affected by isolated congenital anosmia have changes (mutations) in PROKR2 or PROK2, two genes that have previously been reported in people with Kallmann syndrome (an inherited condition associated with congenital anosmia and other symptoms). To date, no other disease-causing genes have been identified.
How is Proud syndrome inherited? Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.
What are the signs and symptoms of Polycystic ovarian syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic ovarian syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Amenorrhea - Autosomal dominant inheritance - Enlarged polycystic ovaries - Hirsutism - Obesity - Oligomenorrhea - 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.
There is no treatment available to slow the course of corticobasal degeneration, and the symptoms of the disease are generally resistant to therapy. Drugs used to treat Parkinson disease-type symptoms do not produce any significant or sustained improvement. Clonazepam may help the myoclonus. Occupational, physical, and speech therapy can help in managing disability.
How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.
These resources address the diagnosis or management of Erdheim-Chester disease: - Histiocytosis Association: Erdheim-Chester Disease Diagnosis and Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Autosomal recessive nonsyndromic congenital nuclear cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive nonsyndromic congenital nuclear cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cataract - 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.
Renal nutcracker syndrome (NCS) is a condition that occurs when the left renal vein (the vein that carries blood purified by the left kidney) becomes compressed. The signs and symptoms of the condition can vary from person to person. Some affected people may be asymptomatic while others develop severe and persistent symptoms. When present, features of NCS may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some cases of mild NCS in children may be due to changes in body proportions associated with growth. Why NCS occurs or becomes symptomatic in adults is less clear. Treatment ranges from surveillance to surgical intervention and is based on the severity of symptoms and their expected reversibility when considering the affected person's age and stage of the syndrome.
Carbamoyl phosphate synthetase I deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some individuals have a less severe form of the deficiency, and have milder symptoms that may not appear until later in life. Carbamoyl phosphate synthetase I deficiency is caused by mutations in the CPS1 gene and is inherited in an autosomal recessive fashion.
Another imaging technique used for stroke patients is the magnetic resonance imaging or MRI scan. MRI uses magnetic fields to detect a variety of changes in the brain and blood vessels caused by a stroke. One effect of ischemic stroke is the slowing of water movement through the injured brain tissue. An MRI can show this type of damage very soon after the stroke symptoms start. MRI and CT are equally accurate for determining when hemorrhage is present. The benefit of MRI over a CT scan is more accurate and earlier diagnosis of ischemic stroke especially for smaller strokes and transient ischemic attacks (TIAs). Also, MRI can be more sensitive than CT for detecting other types of neurologic disorders that mimic the symptoms of stroke. However, MRI cannot be performed in patients with certain types of metallic or electronic implants, such as pacemakers for the heart. Although increasingly used in the emergency diagnosis of stroke, MRI is not immediately available at all hours in most hospitals, where CT is used for acute stroke diagnosis. Also, MRI typically takes longer to perform than CT, and therefore may not be the first choice when minutes count.
Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Gallstone attacks usually happen after you eat. Signs of a gallstone attack may include nausea, vomiting, or pain in the abdomen, back, or just under the right arm. Gallstones are most common among older adults, women, overweight people, Native Americans and Mexican Americans. Gallstones are often found during imaging tests for other health conditions. If you do not have symptoms, you usually do not need treatment. The most common treatment is removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways to reach your small intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
People with SPS respond to high doses of diazepam and several anti-convulsants, gabapentin and tiagabine. A recent study funded by the NINDS demonstrated the effectiveness of intravenous immunoglobulin (IVIg) treatment in reducing stiffness and lowering sensitivity to noise, touch, and stress in people with SPS.
A single mutation in the TSPYL1 gene has caused all identified cases of SIDDT. This gene provides instructions for making a protein called TSPY-like 1, whose function is unknown. Based on its role in SIDDT, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain. The TSPYL1 gene mutation that causes SIDDT eliminates the function of TSPY-like 1. The loss of this protein's function appears to cause the major features of the disorder by disrupting the normal development of the male reproductive system and the brain, particularly the brainstem. Research findings suggest that mutations in the TSPYL1 gene are not associated with sudden infant death syndrome (SIDS) in the general population. SIDS is a major cause of death in children younger than 1 year.
These resources address the diagnosis or management of centronuclear myopathy: - Genetic Testing Registry: Autosomal recessive centronuclear myopathy - Genetic Testing Registry: Myopathy, centronuclear - Genetic Testing Registry: Myopathy, centronuclear, 1 - Genetic Testing Registry: Myopathy, centronuclear, 4 - Genetic Testing Registry: Myopathy, centronuclear, 5 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
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Mandibuloacral dysplasia is a rare condition; its prevalence is unknown.
Crusted scabies (also called Norwegian scabies) is a severe form of scabies that most often occurs in people who have a weakened immune system, neurological disease, the elderly, the disabled, or those who are mentally incapacitated. It is characterized by thick crusts of skin that contain large numbers of scabies mites and eggs. The usual features of scabies (itching and a rash) are often absent. Crusted scabies is very contagious and can spread easily both by direct skin-to-skin contacts and through contaminated items such as clothing, bedding, and furniture. People with crusted scabies should receive quick and agressive medical treatment for their infestation to prevent outbreaks of scabies. Ivermectin is commonly used to treat this form of scabies.
What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. 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) Hypothyroidism 7.5% Autosomal dominant inheritance - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Isosexual precocious puberty - Short stature - 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.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.
Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns.
Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. The FGE enzyme modifies other enzymes called sulfatases, which aid in breaking down substances that contain chemical groups known as sulfates. These substances include a variety of sugars, fats, and hormones. Most SUMF1 gene mutations severely reduce the function of the FGE enzyme or lead to the production of an unstable enzyme that is quickly broken down. The activity of multiple sulfatases is impaired because the FGE enzyme modifies all known sulfatase enzymes. Sulfate-containing molecules that are not broken down build up in cells, often resulting in cell death. The death of cells in particular tissues, specifically the brain, skeleton, and skin, cause many of the signs and symptoms of multiple sulfatase deficiency. Research indicates that mutations that lead to reduced FGE enzyme function are associated with the less severe cases of the condition, whereas mutations that lead to the production of an unstable FGE enzyme tend to be associated with the more severe cases of multiple sulfatase deficiency.
The inheritance pattern of primary sclerosing cholangitis is unknown because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having an affected family member is a risk factor for developing the disease.
Cleft lip and cleft palate are birth defects that occur when a baby's lip or mouth do not form properly. They happen early during pregnancy. A baby can have a cleft lip, a cleft palate, or both. A cleft lip happens if the tissue that makes up the lip does not join completely before birth. This causes an opening in the upper lip. The opening can be a small slit or a large opening that goes through the lip into the nose. It can be on one or both sides of the lip or, rarely, in the middle of the lip. Children with a cleft lip also can have a cleft palate. The roof of the mouth is called the "palate." With a cleft palate, the tissue that makes up the roof of the mouth does not join correctly. Babies may have both the front and back parts of the palate open, or they may have only one part open. Children with a cleft lip or a cleft palate often have problems with feeding and talking. They also might have ear infections, hearing loss, and problems with their teeth. Often, surgery can close the lip and palate. Cleft lip surgery is usually done before age 12 months, and cleft palate surgery is done before 18 months. Many children have other complications. They may need additional surgeries, dental and orthodontic care, and speech therapy as they get older. With treatment, most children with clefts do well and lead a healthy life. Centers for Disease Control and Prevention
No drugs have been shown to be totally effective for the treatment of Baylisascaris infection. Albendazole, a broad spectrum anthelmintic, has been recommended for specific cases. Early treatment might reduce serious damage caused by the infection. Should you suspect you may have ingested raccoon feces, seek immediate medical attention. More on: Resources for Health Professionals: Treatment
How might human T-cell leukemia virus, type 2 be treated? No cure or treatment exists for human T-cell leukemia virus, type 2 (HTLV-2). Management is focused on early detection and preventing the spread of HTLV-2 to others. Screening blood doners, promoting safe sex and discouraging needle sharing can decrease the number of new infections. Mother-to-child transmission can be reduced by screening pregnant women so infected mothers can avoid breastfeeding.
CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that are abnormally shaped. Men with CATSPER1-related nonsyndromic male infertility do not have any other symptoms related to this condition.
Certain factors increase the risk of developing coronary heart disease and having a heart attack. These risk factors include some things you cannot change. You are at greater risk if you - are a man over age 45 or a woman over age 55. - have a family history of early heart disease -- heart disease in a father or brother before age 55 or in a mother or sister before age 65. - have a personal history of angina or previous heart attack. - have had a heart procedure, such as angioplasty or heart bypass. are a man over age 45 or a woman over age 55. have a family history of early heart disease -- heart disease in a father or brother before age 55 or in a mother or sister before age 65. have a personal history of angina or previous heart attack. have had a heart procedure, such as angioplasty or heart bypass. Importantly, there are many risk factors for heart attack that you CAN change, including - smoking - being obese or overweight - being physically inactive - having high blood pressure, high blood cholesterol or diabetes. smoking being obese or overweight being physically inactive having high blood pressure, high blood cholesterol or diabetes.
The following changes in diet may help prevent UTIs and kidney stone formation: - Drinking plenty of water and other liquids can help flush bacteria from the urinary tract and dilute urine so kidney stones cannot form. A person should drink enough liquid to produce about 2 to 2.5 quarts of urine every day.3 - Reducing sodium intake, mostly from salt, may help prevent kidney stones. Diets high in sodium can increase the excretion of calcium into the urine and thus increase the chance of calciumcontaining kidney stones forming. - Foods rich in animal proteins such as meat, eggs, and fish can increase the chance of uric acid stones and calcium stones forming. People who form stones should limit their meat consumption to 6 to 8 ounces a day.4 - People who are more likely to develop calcium oxalate stones should include 1,000 milligrams of calcium in their diet every day. Adults older than 50 years should consume 1,200 milligrams of calcium daily.3 Calcium in the digestive tract binds to oxalate from food and keeps it from entering the blood and the urinary tract, where it can form stones. People with medullary sponge kidney should talk with their health care provider or a dietitian before making any dietary changes. A dietitian can help a person plan healthy meals.
A lack of oxygen-rich blood reaching the brain, kidneys, skin, and other parts of the body causes the signs and symptoms of cardiogenic shock. Some of the typical signs and symptoms of shock usually include at least two or more of the following: Confusion or lack of alertness Loss of consciousness A sudden and ongoing rapid heartbeat Sweating Pale skin A weak pulse Rapid breathing Decreased or no urine output Cool hands and feet Any of these alone is unlikely to be a sign or symptom of shock. If you or someone else is having these signs and symptoms, call 911 right away for emergency treatment. Prompt medical care can save your life and prevent or limit organ damage.
There is no specific treatment for Marburg hemorrhagic fever. Supportive hospital therapy should be utilized, which includes balancing the patient's fluids and electrolytes, maintaining oxygen status and blood pressure, replacing lost blood and clotting factors, and treatment for any complicating infections. Experimental treatments are validated in non-human primates models, but have never been tried in humans.
Fabry disease is caused by mutations in the GLA gene. This gene provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha-galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Mutations in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease. GLA gene mutations that result in an absence of alpha-galactosidase A activity lead to the classic, severe form of Fabry disease. Mutations that decrease but do not eliminate the enzyme's activity usually cause the milder, late-onset forms of Fabry disease that affect only the heart or kidneys.
Hepatitis* C is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can cause organs to not work properly.
Young syndrome is a condition whose signs and symptoms may be similar to those seen in cystic fibrosis, including bronchiectasis, sinusitis, and obstructive azoospermia (a condition in which sperm are produced but do not mix with the rest of the ejaculatory fluid due to a physical obstruction, resulting in nonexistent levels of sperm in semen) . The condition is usually diagnosed in middle-aged men who undergo evaluation for infertility. Although the exact cause has not been identified, it is believed to be a genetic condition. At this time, there is no known effective treatment or cure for Young syndrome.
- Vesicoureteral reflux (VUR) is the abnormal flow of urine from the bladder to the upper urinary tract. - VUR is more common in infants and young children, but older children and even adults can be affected. About 10 percent of children have VUR. - In many cases, a child with VUR has no symptoms. When symptoms are present, the most common is a urinary tract infection (UTI). - When a child with VUR gets a UTI, bacteria can move into the kidney and lead to scarring. Scarring of the kidney can be associated with high blood pressure and kidney failure. - Voiding cystourethrogram (VCUG), radionuclide cystogram (RNC), and abdominal ultrasound are used to diagnose VUR. - Children with VUR should also be assessed for bladder/bowel dysfunction (BBD). Children who have VUR along with any BBD symptoms are at greater risk of kidney damage due to infection. - The standard treatment for primary VUR has included prompt treatment of UTIs and long-term use of antibiotics to prevent UTIs, also called antimicrobial prophylaxis, until VUR goes away on its own. Surgery has also been used in certain cases. - Secondary VUR is treated by removing the blockage causing the reflux.
In people who have been bitten by the flies that carry Loa loa in areas where Loa loa is known to exist, the diagnosis can be made in the following ways: - Identification of the adult worm by a microbiologist or pathologist after its removal from under the skin or eye - Identification of an adult worm in the eye by a health care provider - Identification of the microfilariae on a blood smear made from blood taken from the patient between 10AM and 2PM - Identification of antibodies against L. loa on specialized blood test Diagnosis of loiasis can be difficult, especially in light infections where there are very few microfilariae in the blood. The specialized blood test is not widely available in the United States. A positive antibody blood test in someone with no symptoms means only that the person was infected sometime in his/her life. It does not mean that the person still has living parasites in his/her body.
Limiting intake of fats, cholesterol, sodium, and sugar can help prevent atherosclerosis, which can lead to RAS. Most sodium in the diet comes from salt. A healthy diet that prevents people from becoming overweight or obese can also help prevent atherosclerosis. People with RAS that has caused decreased kidney function should limit their intake of protein, cholesterol, sodium, and potassium to slow the progression of kidney failure. More information about nutrition for CKD is provided in the NIDDK health topics, Nutrition for Early Chronic Kidney Disease in Adults and Nutrition for Advanced Chronic Kidney Disease in Adults. People should talk with their health care provider about what diet is right for them.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia. The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart. Other types of dextrocardia may involve defects of the walls of the heart, nearby blood vessels, or other organs in the abdomen. Chest X-raxys and echocardiograms can be used to determine which type of dextrocardia is present.
This condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
These resources address the diagnosis or management of methemoglobinemia, beta-globin type: - Genetic Testing Registry: Methemoglobinemia, beta-globin type - KidsHealth from Nemours: Blood Test: Hemoglobin - MedlinePlus Encyclopedia: Hemoglobin - MedlinePlus Encyclopedia: Methemoglobinemia - MedlinePlus Encyclopedia: Skin Discoloration--Bluish 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
FTDP-17 is caused by mutations in the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name. The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in assembling and stabilizing microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells. Mutations in the MAPT gene disrupt the normal structure and function of tau. The defective protein assembles into abnormal clumps within neurons and other brain cells. However, it is unclear what effect these clumps have on cell function and survival. FTDP-17 is characterized by the gradual death of cells in areas of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. A loss of cells in these brain regions leads to personality changes, speech difficulties, and the other features of FTDP-17. FTDP-17 is one of several related diseases known as tauopathies, which are characterized by an abnormal buildup of tau in the brain.
What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. 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) Adrenogenital syndrome - Autosomal recessive inheritance - Congenital adrenal hyperplasia - Hypospadias - Renal salt wasting - 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.
Dentinogenesis imperfecta type 2 is a rare and severe form of dentinogenesis imperfecta, a condition that affects tooth development. People affected by the condition may have weak and discolored teeth. These problems can affect both primary (baby) teeth and permanent teeth. People with this form of dentinogenesis imperfecta have no normal teeth. Sensorineural hearing loss has also been found in some affected people. Dentinogenesis imperfecta type 2 is caused by changes (mutations) in the DSPP gene and is inherited in an autosomal dominant manner. Treatment is usually focused on protecting primary (baby) and then permanent teeth with preformed pediatric crowns and other interventions. The replacement of teeth might be considered in the future with dentures and/or implants.
RLS is generally a life-long condition for which there is no cure. Symptoms may gradually worsen with age. Nevertheless, current therapies can control the disorder, minimizing symptoms and increasing periods of restful sleep. In addition, some individuals have remissions, periods in which symptoms decrease or disappear for days, weeks, or months, although symptoms usually eventually reappear.
More than 200 people with mevalonate kinase deficiency have been reported worldwide; the majority of these individuals have HIDS.
If you have gestational diabetes, your doctor may recommend that you have some extra tests to check your baby's health, such as - ultrasound exams, which use sound waves to make images that show your baby's growth and whether your baby is larger than normal - a nonstress test, which uses a monitor placed on your abdomen to check whether your baby's heart rate increases as it should when your baby is active - kick counts to check the time between your baby's movements
Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme), has received FDA approval for the treatment of infants and children with Pompe disease. Another algluosidase alfa drug, Lumizyme, has been approved for late-onset (non-infantile) Pompe disease.
To prevent cysticercosis, the following precautions should be taken: - Wash your hands with soap and warm water after using the toilet, changing diapers, and before handling food - Teach children the importance of washing hands to prevent infection - Wash and peel all raw vegetables and fruits before eating - Use good food and water safety practices while traveling in developing countries such as: - Drink only bottled or boiled (1 minute) water or carbonated (bubbly) drinks in cans or bottles - Filter unsafe water through an "absolute 1 micron or less" filter AND dissolve iodine tablets in the filtered water; "absolute 1 micron" filters can be found in camping and outdoor supply stores More on: Handwashing More on: Food and Water Safety
Symptoms of depression often vary depending upon the person. Common symptoms include - feeling nervous or emotionally empty - tiredness or a "slowed down" feeling - feeling guilty or worthless - restlessness and irritability - feeling like life is not worth living - sleep problems such as insomnia, oversleeping or wakefulness in the middle of the night - eating more or less than usual, usually with unplanned weight gain or loss - having persistent headaches, stomach-aches or other chronic pain that does not go away when treated - loss of interest in once pleasurable activities - frequent crying - difficulty focusing, remembering or making decisions - thoughts of death or suicide. feeling nervous or emotionally empty tiredness or a "slowed down" feeling feeling guilty or worthless restlessness and irritability feeling like life is not worth living sleep problems such as insomnia, oversleeping or wakefulness in the middle of the night eating more or less than usual, usually with unplanned weight gain or loss having persistent headaches, stomach-aches or other chronic pain that does not go away when treated loss of interest in once pleasurable activities frequent crying difficulty focusing, remembering or making decisions thoughts of death or suicide.
LCHAD deficiency, or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a mitochondrial condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms typically appear during infancy or early childhood and can include feeding difficulties, lack of energy, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the retina. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and peripheral neuropathy. Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the HADHA gene.[OMIM]
Key Points - Renal cell cancer is a disease in which malignant (cancer) cells form in tubules of the kidney. - Smoking and misuse of certain pain medicines can affect the risk of renal cell cancer. - Signs of renal cell cancer include blood in the urine and a lump in the abdomen. - Tests that examine the abdomen and kidneys are used to detect (find) and diagnose renal cell cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Renal cell cancer is a disease in which malignant (cancer) cells form in tubules of the kidney. Renal cell cancer (also called kidney cancer or renal adenocarcinoma) is a disease in which malignant (cancer) cells are found in the lining of tubules (very small tubes) in the kidney. There are 2 kidneys, one on each side of the backbone, above the waist. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine passes from each kidney through a long tube called a ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body. Cancer that starts in the ureters or the renal pelvis (the part of the kidney that collects urine and drains it to the ureters) is different from renal cell cancer. (See the PDQ summary about Transitional Cell Cancer of the Renal Pelvis and Ureter Treatment for more information).
Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy.
Causes of diarrhea include - bacteria from contaminated food or water - viruses that cause illnesses such as the flu - parasites, which are tiny organisms found in contaminated food or water - medicines such as antibiotics - problems digesting certain foods - diseases that affect the stomach, small intestine, or colon, such as Crohns disease - problems with how the colon functions, caused by disorders such as irritable bowel syndrome Sometimes no cause can be found. As long as diarrhea goes away within 1 to 2 days, finding the cause is not usually necessary.
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis. Affected infants have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Bones in the skull develop normally, but the bones of the spine (vertebrae) and pelvis do not harden (ossify) properly. The face appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in some cases, an opening in the roof of the mouth called a cleft palate. Individuals with hypochondrogenesis have an enlarged abdomen and may have a condition called hydrops fetalis in which excess fluid builds up in the body before birth. As a result of these serious health problems, some affected fetuses do not survive to term. Infants born with hypochondrogenesis usually die at birth or shortly thereafter from respiratory failure. Babies who live past the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly affects bone development.
You can try to find the cause of gas by keeping a diary of what you eat and drink and how often you burp, pass gas, or have other symptoms. The diary may help you identify the foods that cause you to have gas. Talk with your health care provider if - gas symptoms often bother you - your symptoms change suddenly - you have new symptoms, especially if you are older than age 40 - you have other symptomssuch as constipation, diarrhea, or weight lossalong with gas Your health care provider will ask about your diet and symptoms. Your health care provider may review your diary to see if specific foods are causing gas. If milk or milk products are causing gas, your health care provider may perform blood or breath tests to check for lactose intolerance. Lactose intolerance means you have trouble digesting lactose. Your health care provider may ask you to avoid milk and milk products for a short time to see if your gas symptoms improve. Your health care provider may test for other digestive problems, depending on your symptoms.
Eye Diseases and Health Conditions Most people develop low vision because of eye diseases and health conditions like macular degeneration, cataracts, glaucoma, and diabetes. Your eye care professional can tell the difference between normal changes in the aging eye and those caused by eye diseases. Injuries and Birth Defects A few people develop vision loss after eye injuries or from birth defects. Although vision that is lost usually cannot be restored, many people can make the most of the vision they have. How a Scene Looks to People With Normal and Low Vision Scene as viewed by a person with normal vision. Scene as viewed by a person with diabetic retinopathy. Scene as viewed by a person with age-related macular degeneration. Scene as viewed by a person with glaucoma. Scene as viewed by a person with cataracts.
You have two kidneys, each about the size of your fist. Their main job is to filter wastes and excess water out of your blood to make urine. They also keep the body's chemical balance, help control blood pressure, and make hormones. Chronic kidney disease (CKD) means that your kidneys are damaged and can't filter blood as they should. This damage can cause wastes to build up in your body. It can also cause other problems that can harm your health. Diabetes and high blood pressure are the most common causes of CKD. Treatment may include medicines to lower blood pressure, control blood glucose, and lower blood cholesterol. CKD can get worse over time. CKD may lead to kidney failure. The only treatment options for kidney failure are dialysis or a kidney transplantation. You can take steps to keep your kidneys healthier longer: - Choose foods with less salt (sodium) - Keep your blood pressure below 130/80 - Keep your blood glucose in the target range, if you have diabetes NIH: National Institute of Diabetes and Digestive and Kidney Diseases
What are the signs and symptoms of Deafness, autosomal dominant nonsyndromic sensorineural 17? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness, autosomal dominant nonsyndromic sensorineural 17. 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 - High-frequency hearing impairment - Juvenile onset - 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.
Protein C deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROC gene in each cell is sufficient to cause mild protein C deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein C deficiency.
Brody disease is a type of myopahty or "disease of muscle." Signs and symptoms include difficulty relaxing muscles and muscle stiffness following exercise. The condition tends to be inherited in an autosomal recessive fashion. Some cases of Brody disease are caused by mutations in a gene called ATP2A1, for other cases the underlying genetic defect has not been identified.
Mutations in the C10orf2 gene cause IOSCA. The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. The Twinkle protein is involved in the production and maintenance of mtDNA. The function of the Twinky protein is unknown. The C10orf2 gene mutations that cause IOSCA interfere with the function of the Twinkle protein and result in reduced quantities of mtDNA (mtDNA depletion). Impaired mitochondrial function in the nervous system, muscles, and other tissues that require a large amount of energy leads to neurological dysfunction and the other problems associated with IOSCA.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Estimates of PKDs prevalence range from one in 400 to one in 1,000 people.1 According to the United States Renal Data System, PKD accounts for 2.2 percent of new cases of kidney failure each year in the United States. Annually, eight people per 1 million have kidney failure as a result of PKD.2 Polycystic kidney disease exists around the world and in all races. The disorder occurs equally in women and men, although men are more likely to develop kidney failure from PKD. Women with PKD and high blood pressure who have had more than three pregnancies also have an increased chance of developing kidney failure.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether it affects part of the nasopharynx, involves the whole nasopharynx, or has spread to other places in the body). - The type of nasopharyngeal cancer. - The size of the tumor. - The patients age and general health.
Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur. The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved. Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily.
Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 newborns. This condition is much more common in infants born to mothers with diabetes when it affects an estimated 1 in 350 newborns.
- Cyclic vomiting syndrome, sometimes referred to as CVS, is an increasingly recognized disorder with sudden, repeated attacksalso called episodesof severe nausea, vomiting, and physical exhaustion that occur with no apparent cause. - The disorder can affect a person for months, years, or decades. - The cause of cyclic vomiting syndrome is unknown. - The severe vomiting and retching that define cyclic vomiting syndrome increase the chance of developing several complications, including dehydration, esophagitis, a Mallory-Weiss tear, and tooth decay. - Intensity of symptoms will vary as a person cycles through four distinct phases of an episode. - The main symptoms of cyclic vomiting syndrome are severe nausea and sudden vomiting lasting hours to days. - People with cyclic vomiting syndrome should get plenty of rest and take medications to prevent a vomiting episode, stop an episode in progress, speed up recovery, or relieve associated symptoms. - During the well phase, a balanced diet and regular meals are important. A health care provider will assist with planning a return to a regular diet.
What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH gene.
These resources address the diagnosis or management of Imerslund-Grsbeck syndrome: - MedlinePlus Encyclopedia: Anemia - B12 deficiency 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
Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.
These resources address the diagnosis or management of polycythemia vera: - Genetic Testing Registry: Polycythemia vera - MPN Research Foundation: Diagnosis - MedlinePlus Encyclopedia: Polycythemia Vera These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra water. Children produce less urine than adults. The amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called the ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.
A health care provider may recommend changing a childs diet to treat the cause of chronic diarrhea. Making sure that children receive proper nutrition is important for growth and development. A childs parent or caretaker should talk with a health care provider about changing the childs diet to treat chronic diarrhea.
This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
HMERF is a rare condition. It has been reported in several families of Swedish and French descent, and in at least one individual from Italy.
A number of studies suggest that eating certain foods may help keep the brain healthyand that others can be harmful. Researchers are looking at whether a healthy dietone that includes lots of fruits, vegetables, and whole grains and is low in fat and added sugarcan help prevent Alzheimers. For more information about healthy eating as you age, see Eating Well As You Get Older.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to polymyositis in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.
What are the signs and symptoms of Bladder cancer? The Human Phenotype Ontology provides the following list of signs and symptoms for Bladder cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Transitional cell carcinoma of the bladder - 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.
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened. A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.
Summary : Nutritional support is therapy for people who cannot get enough nourishment by eating or drinking. You may need it if you - Can't swallow - Have problems with your appetite - Are severely malnourished - Can't absorb nutrients through your digestive system You receive nutritional support through a needle or catheter placed in your vein or with a feeding tube, which goes into your stomach.
How is platelet storage pool deficiency diagnosed? A diagnosis of platelet storage pool deficiency is often suspected based on the presence of characteristic signs and symptoms. Specialized laboratory tests can then be ordered to confirm the diagnosis. This testing may include: Bleeding time studies Platelet aggregation studies Peripheral blood smear Flow cytometry (detects a reduction in certain types of granules in affected platelets)
Most cases of Nager syndrome are sporadic, which means that they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Nager syndrome. In autosomal dominant Nager syndrome, an affected person usually inherits the condition from one affected parent. Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition. Nager syndrome is thought to have an autosomal recessive inheritance pattern when unaffected parents have more than one affected child. The underlying genetic cause may differ among unrelated individuals with Nager syndrome, even among those with the same pattern of inheritance.
To prevent cirrhosis, - see your doctor for treatment of your liver disease. Many of the causes of cirrhosis are treatable. Early treatment may prevent cirrhosis. - try to keep your weight in the normal range. Being overweight can make several liver diseases worse. - do not drink any alcohol. Alcohol can harm liver cells. Drinking large amounts of alcohol over many years is one of the major causes of cirrhosis. - do not use illegal drugs, which can increase your chances of getting hepatitis B or hepatitis C. - see your doctor if you have hepatitis. Treatments for hepatitis B, C, and D are available. If you are on treatment, carefully follow your treatment directions. - if you have autoimmune hepatitis, take your medicines and have regular checkups as recommended by your doctor or a liver specialist.
What are the signs and symptoms of Johnston Aarons Schelley syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Johnston Aarons Schelley 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) Dry skin 90% Hyperkeratosis 90% Hypertonia 90% Limitation of joint mobility 90% Morphological abnormality of the central nervous system 90% 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.
APS improves significantly with anticoagulation therapy, which reduces the risk of further clots in veins and arteries. Treatment should be lifelong, since there is a high risk of further clots in individuals who stop warfarin treatment. Doctors often recommend that individuals stop smoking, exercise regularly, and eat a healthy diet to prevent high blood pressure and diabetes, which are diseases that increase the risk for stroke. Treating pregnant women with aspirin or heparin usually prevents miscarriages related to APS.
Infants with biliary atresia often have nutritional deficiencies and require special diets as they grow up. They may need a higher calorie diet, because biliary atresia leads to a faster metabolism. The disease also prevents them from digesting fats and can lead to protein and vitamin deficiencies. Vitamin supplements may be recommended, along with adding medium-chain triglyceride oil to foods, liquids, and infant formula. The oil adds calories and is easier to digest without bile than other types of fats. If an infant or child is too sick to eat, a feeding tube may be recommended to provide high-calorie liquid meals. After a liver transplant, most infants and children can go back to their usual diet. Vitamin supplements may still be needed because the medications used to keep the body from rejecting the new liver can affect calcium and magnesium levels.
People can receive treatment as outpatients (they live at home and visit the doctor or other provider) or through inpatient services (they live temporarily at a special facility where they get treatment). The support of family and friends is important during the treatment process.
Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person. Virtually all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Tuberous sclerosis complex often affects the brain, causing seizures, behavioral problems such as hyperactivity and aggression, and intellectual disability or learning problems. Some affected children have the characteristic features of autism, a developmental disorder that affects communication and social interaction. Benign brain tumors can also develop in people with tuberous sclerosis complex; these tumors can cause serious or life-threatening complications. Kidney tumors are common in people with tuberous sclerosis complex; these growths can cause severe problems with kidney function and may be life-threatening in some cases. Additionally, tumors can develop in the heart, lungs, and the light-sensitive tissue at the back of the eye (the retina).
Fatigue, or feeling extremely tired, is a common complaint during the first year after cancer treatment ends. Many factors may contribute to treatment-related fatigue, including cancer therapy or other problems such as stress, poor nutrition, and depression. Researchers are still learning about the multiple reasons for fatigue after treatment.
Meier-Gorlin syndrome is a rare condition; however, its prevalence is unknown.
Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. About 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. Other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, Wilms tumor. This condition is caused by mutations in the CDC73 gene and is inherited in an autosomal dominant fashion.
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. In some cases, people with popliteal pterygium syndrome have missing teeth. Other features may include webs of skin on the backs of the legs across the knee joint, webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. Affected individuals may also have abnormal genitals. This condition is inherited in an autosomal dominant fashion and is caused by mutations in the IRF6 gene.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research relating to myoclonus in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Scientists are seeking to understand the underlying biochemical basis of involuntary movements and to find the most effective treatment for myoclonus and other movement disorders. Researchers may be able to develop drug treatments that target specific biochemical changes involved in myoclonus. By combining several of these drugs, scientists hope to achieve greater control of myoclonic symptoms.
Situs inversus is a condition in which the arrangement of the internal organs is a mirror image of normal anatomy. It can occur alone (isolated, with no other abnormalities or conditions) or it can occur as part of a syndrome with various other defects. Congenital heart defects are present in about 5-10% of affected people. The underlying cause and genetics of situs inversus are complex. Familial cases have been reported.
Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies suggest that up to 30 percent of all people with atrial fibrillation may have a history of the condition in their family.
How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected is a form of genetic testing called DNA methylation testing. This testing can detect abnormal, parent-specific imprinting on the region of chromosome 15 that is responsible for PWS. It determines whether the region is maternally inherited only (i.e., the paternally contributed region is absent) and confirms a diagnosis in more than 99% of affected people. DNA methylation testing is especially important in people who have non-classic features, or are too young to show enough features to make the diagnosis based on signs and symptoms alone.
During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away. Otherwise, your doctor will decide whether you need oxygen therapy based on test results. An arterial blood gas test and a pulse oximetry test can measure the amount of oxygen in your blood. For an arterial blood gas test, a small needle is inserted into an artery, usually in your wrist. A sample of blood is taken from the artery. The sample is then sent to a laboratory, where its oxygen level is measured. For a pulse oximetry test, a small sensor is attached to your fingertip or toe. The sensor uses light to estimate how much oxygen is in your blood. If the tests show that your blood oxygen level is low, your doctor may prescribe oxygen therapy. In the prescription, your doctor will include the number of liters of oxygen per minute that you need (oxygen flow rate). He or she also will include how often you need to use the oxygen (frequency of use). Frequency of use includes when and for how long you should use the oxygen. Depending on your condition and blood oxygen level, you may need oxygen only at certain times, such as during sleep or while exercising. If your doctor prescribes home oxygen therapy, he or she can help you find a home equipment provider. The provider will give you the equipment and other supplies you need.
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.