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How is Noonan syndrome inherited? Noonan syndrome is inherited in an autosomal dominant manner. This means that having one changed (mutated) copy of the responsible gene in each cell is enough to cause the condition. Each child of a person with Noonan syndrome has a 50% (1 in 2) chance to inherit the condition. In some cases, the condition is inherited from an affected parent. Because the features of the condition can vary and may be very subtle, many affected adults are diagnosed only after the birth of a more obviously affected infant. In other cases, the condition is caused by a new mutation occurring for the first time in the affected person.
How is galactosialidosis inherited? Galactosialidosis is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What are the signs and symptoms of Small cell carcinoma of the bladder? The Human Phenotype Ontology provides the following list of signs and symptoms for Small cell carcinoma of the bladder. 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) Hematuria 90% Urinary tract neoplasm 90% Abdominal pain 7.5% Hypercalcemia 7.5% Recurrent urinary tract infections 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.
What symptoms may be associated with craniopharyngioma? Craniopharyngioma causes symptoms in three different ways: by increasing the pressure on the brain (intracranial pressure) by disrupting the function of the pituitary gland by damaging the optic nerve Increased pressure on the brain causes headache, nausea, vomiting (especially in the morning), and difficulty with balance. Damage to the pituitary gland causes hormone imbalances that can lead to excessive thirst and urination (diabetes insipidus) and stunted growth. When the optic nerve is damaged by the tumor, vision problems develop. These defects are often permanent, and may be worse after surgery to remove the tumor. Most patients have at least some visual defects and evidence of decreased hormone production at the time of diagnosis.
What are the signs and symptoms of Loose anagen hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Loose anagen hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair whorl 90% Abnormality of hair texture 90% Iris coloboma 50% Childhood onset - Fair hair - Juvenile onset - Sparse hair - 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.
Coughing is a reflex that keeps your throat and airways clear. Although it can be annoying, coughing helps your body heal or protect itself. Coughs can be either acute or chronic. Acute coughs begin suddenly and usually last no more than 2 to 3 weeks. Acute coughs are the kind you most often get with a cold, flu, or acute bronchitis. Chronic coughs last longer than 2 to 3 weeks. Causes of chronic cough include - Chronic bronchitis - Asthma - Allergies - COPD (chronic obstructive pulmonary disease) - GERD (gastroesophageal reflux disease) - Smoking - Throat disorders, such as croup in young children - Some medicines Water can help ease your cough - whether you drink it or add it to the air with a steamy shower or vaporizer. If you have a cold or the flu, antihistamines may work better than non-prescription cough medicines. Children under four should not have cough medicine. For children over four, use caution and read labels carefully.
What are the signs and symptoms of Kernicterus? The Human Phenotype Ontology provides the following list of signs and symptoms for Kernicterus. 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 - Cerebral palsy - Jaundice - Kernicterus - Neonatal unconjugated hyperbilirubinemia - 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.
XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is less common, occurring in about 1 per 5 million males.
What are the signs and symptoms of Corneal dystrophy crystalline of Schnyder? The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal dystrophy crystalline of Schnyder. 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 - Corneal dystrophy - Crystalline corneal dystrophy - 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.
Hypotonia can be a life-long condition. In some cases, however, muscle tone improves over time.
What causes Proteus syndrome? Proteus syndrome is caused by mutations in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not. This mixture of cells with and without a genetic mutation is known as mosaicism. The AKT1 gene helps regulate cell growth and division. (proliferation) and cell death. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristics of Proteus syndrome. Studies suggest that AKT1 gene mutations are more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.
Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component; however, the genetic factors are not fully understood. Researchers suggest that genes important for skin growth may be involved. It is thought that impairments of skin growth more commonly affect the skin at the top of the head because that region needs to be able to grow quickly to cover the fast-growing skull of a developing baby. In some cases, nonsyndromic aplasia cutis congenita is caused by exposure to a drug called methimazole before birth. This medication is given to treat an overactive thyroid gland. Babies whose mothers take this medication during pregnancy are at increased risk of having the condition. In addition, certain viral infections in a pregnant mother can cause the baby to be born with the skin lesions characteristic of nonsyndromic aplasia cutis congenita. Other cases are thought to be caused by injury to the baby during development.
What causes Kyrle disease? The cause of Kyrle disease is currently unknown. Some cases appear to be idiopathic (no known triggers), or inherited. What has been found is that Kyrle disease appears to occur more frequently in patients with certain systemic disorders, which include diabetes mellitus; renal disease (chronic renal failure, albuminuria, elevated serum creatinine, abnormal creatinine clearance, polyuria); hepatic abnormalities (alcoholic cirrhosis); and congestive heart failure. It has been thought that metabolic disorders associated with Kyrle disease are somehow responsible for development of abnormal keratinization and connective tissue changes, but the exact mechanism by which this happens is unclear.
Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. Virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. No affected individuals are known to have had children; therefore, the disorder has not been passed to the next generation.
What are the symptoms of La Crosse (LAC) encephalitis? Most people infected with LAC encephalitis do not have symptoms. Those that do become ill may initially have fever, headache, vomiting and lethargy (tiredness). Severe cases may develop encephalitis, an inflammation of the brain, which is often accompanied by seizures. Coma and paralysis may also occur. Most cases that develop symptoms occur in children under the age of 16 Symptoms, if present, typically develop 5 to 15 days after the bite of an infected mosquito. Most cases occur during the summer months.
Cat scratch disease (CSD) is an illness caused by the bacterium Bartonella henselae. Almost half of all cats carry the infection at some point. The infection does not make cats sick. However, the scratch or bite of an infected cat can cause symptoms in people, including - Swollen lymph nodes, especially around the head, neck, and upper limbs - Fever - Headache - Fatigue - Poor appetite For people with weak immune systems, CSD may cause more serious problems. The best way to avoid CSD is to avoid rough play with cats that could lead to scratches or bites. If you do get a scratch or bite, wash it well with soap and water. If the bite or scratch gets infected or if you have symptoms of CSD, call your doctor. Centers for Disease Control and Prevention
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.
What are the signs and symptoms of MYH-associated polyposis? The Human Phenotype Ontology provides the following list of signs and symptoms for MYH-associated polyposis. 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) Colon cancer 5/12 Adenomatous colonic polyposis - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Summary : Your kidneys make urine by filtering wastes and extra water from your blood. The waste is called urea. Your blood carries it to the kidneys. From the kidneys, urine travels down two thin tubes called ureters to the bladder. The bladder stores urine until you are ready to urinate. It swells into a round shape when it is full and gets smaller when empty. If your urinary system is healthy, your bladder can hold up to 16 ounces (2 cups) of urine comfortably for 2 to 5 hours. You may have problems with urination if you have - Kidney failure - Urinary tract infections - An enlarged prostate - Bladder control problems like incontinence, overactive bladder, or interstitial cystitis - A blockage that prevents you from emptying your bladder Some conditions may also cause you to have blood or protein in your urine. If you have a urinary problem, see your healthcare provider. Urinalysis and other urine tests can help to diagnose the problem. Treatment depends on the cause. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Is Kawasaki syndrome inherited? A predisposition to Kawasaki syndrome appears to be passed through generations in families, but the inheritance pattern is unknown.
The progression of the disorder is usually 10 years or longer.
Mutations in the ARX gene cause XLAG. The ARX gene provides instructions for producing a protein that is involved in the development of several organs, including the brain, testes, and pancreas. In the developing brain, the ARX protein is involved with movement and communication in nerve cells (neurons). The ARX protein regulates genes that play a role in the migration of specialized neurons (interneurons) to their proper location. Interneurons relay signals between neurons. In the pancreas and testes, the ARX protein helps to regulate the process by which cells mature to carry out specific functions (differentiation). ARX gene mutations lead to the production of a nonfunctional ARX protein or to the complete absence of ARX protein. As a result, the ARX protein cannot perform its role regulating the activity of genes important for interneuron migration. In addition to impairing normal brain development, a lack of functional ARX protein disrupts cell differentiation during the formation of the testes, leading to abnormal genitalia. It is thought that the disruption of ARX protein function in the pancreas plays a role in the chronic diarrhea and hyperglycemia experienced by individuals with XLAG.
Espaol Deep vein thrombosis (throm-BO-sis), or DVT, is a blood clot that forms in a vein deep in the body. Blood clots occur when blood thickens and clumps together. Most deep vein blood clots occur in the lower leg or thigh. They also can occur in other parts of the body. A blood clot in a deep vein can break off and travel through the bloodstream. The loose clot is called an embolus (EM-bo-lus). It can travel to an artery in the lungs and block blood flow. This condition is called pulmonary embolism (PULL-mun-ary EM-bo-lizm), or PE. PE is a very serious condition. It can damage the lungs and other organs in the body and cause death. Blood clots in the thighs are more likely to break off and cause PE than blood clots in the lower legs or other parts of the body. Blood clots also can form in veins closer to the skin's surface. However, these clots won't break off and cause PE. The animation below shows a deep vein blood clot. Click the "start" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames. The animation shows how a blood clot in a deep vein of the leg can break off, travel to the lungs, and block blood flow.
What are the signs and symptoms of Aromatase excess syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatase excess 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) Accelerated skeletal maturation - Autosomal dominant inheritance - Gynecomastia - 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.
The National Institutes of Health (NIH), and the National Institute of Neurological Disorders and Stroke (NINDS), have funded many of the research studies exploring the genetic and neurobiological origins of WS. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS.
Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body.
These resources address the diagnosis or management of osteopetrosis: - Gene Review: Gene Review: CLCN7-Related Osteopetrosis - Genetic Testing Registry: Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema - Genetic Testing Registry: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 - Genetic Testing Registry: Osteopetrosis and infantile neuroaxonal dystrophy - Genetic Testing Registry: Osteopetrosis autosomal dominant type 2 - Genetic Testing Registry: Osteopetrosis autosomal recessive 1 - Genetic Testing Registry: Osteopetrosis autosomal recessive 2 - Genetic Testing Registry: Osteopetrosis autosomal recessive 4 - Genetic Testing Registry: Osteopetrosis autosomal recessive 6 - Genetic Testing Registry: Osteopetrosis autosomal recessive 7 - Genetic Testing Registry: Osteopetrosis with renal tubular acidosis 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 exact prevalence of GSDVI is unknown. At least 11 cases have been reported in the medical literature, although this condition is likely to be underdiagnosed because it can be difficult to detect in children with mild symptoms or adults with no symptoms. GSDVI is more common in the Old Older Mennonite population, with an estimated incidence of 1 in 1,000 individuals.
How might schwannomatosis be treated? Treatment for schwannomatosis is based on the signs and symptoms present in each person. For example, pain is one of the most common symptoms of the condition. Treatment with medications such as gabapentin or pregabalin and the use of short-acting opioids and/or nonsteroidal anti-inflammatories for pain can be successful for many patients. If pain cannot be managed with other means or if the schwannomas are causing other symptoms, they can be surgically removed. However this treatment is often used as a last resort because surgery may put patients at risk of further neurologic problems.
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual.
Psoriatic juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and psoriasis. Other signs and symptoms may include dactylitis (inflammation and swelling of an entire finger or toe); nail pitting or splitting; and eye problems. Although the underlying cause of psoriatic juvenile idiopathic arthritis is currently unknown (idiopathic), it is thought to occur due to a combination of genetic and environmental factors. It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy.
Certain drugs that have been used successfully in other cancers are now being used to treat some breast cancers. A mix of drugs may increase the length of time you will live, or the length of time you will live without cancer. In addition, certain drugs like Herceptin and Tykerb taken in combination with chemotherapy, can help women with specific genetic breast cancer mutations better than chemotherapy alone.
The NINDS supports research on disorders of the brain and nervous system such as neurotoxicity, aimed at learning more about these disorders and finding ways to prevent and treat them. Scientists are investigating the role occupational or environmental toxicants have on progressive neurodegenerative disorders such as Parkinson's disease, amyotrophic lateral sclerosis, multiple sclerosis, and dementia. Also being studied are the mechanisms that trigger neuroimmune responses in the central nervous system and the possibility that some brain disorders in children may occur when environmental triggers interact with genes.
How is central core disease diagnosed? Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis. A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakness, a muscle biopsy that reveals a characteristic appearance of the muscle cells, and/or genetic testing that identifies a mutation in the RYR1.
A predisposition to develop autoimmune Addison disease is passed through generations in families, but the inheritance pattern is unknown.
Ultraviolet (UV) rays are an invisible form of radiation. They can pass through your skin and damage your skin cells. Sunburns are a sign of skin damage. Suntans aren't healthy, either. They appear after the sun's rays have already killed some cells and damaged others. UV rays can cause skin damage during any season or at any temperature. They can also cause eye problems, wrinkles, skin spots, and skin cancer. To protect yourself - Stay out of the sun when it is strongest (between 10 a.m. and 2 p.m.) - Use sunscreen with an SPF of 15 or higher - Wear protective clothing - Wear wraparound sunglasses that provide 100 percent UV ray protection - Avoid sunlamps and tanning beds Check your skin regularly for changes in the size, shape, color, or feel of birthmarks, moles, and spots. Such changes are a sign of skin cancer. Food and Drug Administration
The signs and symptoms of idiopathic pulmonary fibrosis (IPF) develop over time. They may not even begin to appear until the disease has done serious damage to your lungs. Once they occur, they're likely to get worse over time. The most common signs and symptoms are: Shortness of breath. This usually is the main symptom of IPF. At first, you may be short of breath only during exercise. Over time, you'll likely feel breathless even at rest. A dry, hacking cough that doesn't get better. Over time, you may have repeated bouts of coughing that you can't control. Other signs and symptoms that you may develop over time include: Rapid, shallow breathing Gradual, unintended weight loss Fatigue (tiredness) or malaise (a general feeling of being unwell) Aching muscles and joints Clubbing, which is the widening and rounding of the tips of the fingers or toes Clubbing IPF may lead to other medical problems, including a collapsed lung, lung infections, blood clots in the lungs, and lung cancer. As the disease worsens, you may develop other potentially life-threatening conditions, including respiratory failure, pulmonary hypertension, and heart failure.
Most cases of the photosensitive form of trichothiodystrophy result from mutations in one of three genes: ERCC2, ERCC3, or GTF2H5. The proteins produced from these genes work together as part of a group of proteins called the general transcription factor IIH (TFIIH) complex. This complex is involved in the repair of DNA damage, which can be caused by UV radiation from the sun. The TFIIH complex also plays an important role in gene transcription, which is the first step in protein production. Mutations in the ERCC2, ERCC3, or GTF2H5 genes reduce the amount of TFIIH complex within cells, which impairs both DNA repair and gene transcription. An inability to repair DNA damage probably underlies the sun sensitivity in affected individuals. Studies suggest that many of the other features of trichothiodystrophy may result from problems with the transcription of genes needed for normal development before and after birth. Mutations in at least one gene, MPLKIP, have been reported to cause a non-photosensitive form of trichothiodystrophy. Mutations in this gene account for fewer than 20 percent of all cases of non-photosensitive trichothiodystrophy. Little is known about the protein produced from the MPLKIP gene, although it does not appear to be involved in DNA repair. It is unclear how mutations in the MPLKIP gene lead to the varied features of trichothiodystrophy. In some cases, the genetic cause of trichothiodystrophy is unknown.
Every pregnancy has some risk of problems. The causes can be conditions you already have or conditions you develop. They also include being pregnant with more than one baby, previous problem pregnancies, or being over age 35. They can affect your health and the health of your baby. If you have a chronic condition, you should talk to your health care provider about how to minimize your risk before you get pregnant. Once you are pregnant, you may need a health care team to monitor your pregnancy. Examples of common conditions that can complicate a pregnancy include - Heart disease - High blood pressure - Kidney problems - Autoimmune disorders - Sexually transmitted diseases - Diabetes - Cancer - Infections Other conditions that can make pregnancy risky can happen while you are pregnant - for example, gestational diabetes and Rh incompatibility. Good prenatal care can help detect and treat them. Some discomforts, like nausea, back pain, and fatigue, are common during pregnancy. Sometimes it is hard to know what is normal. Call your doctor or midwife if something is bothering or worrying you.
Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke
When kidneys are diseased or damaged, they do not make enough EPO. As a result, the bone marrow makes fewer red blood cells, causing anemia. When blood has fewer red blood cells, it deprives the body of the oxygen it needs. Other common causes of anemia in people with kidney disease include blood loss from hemodialysis and low levels of the following nutrients found in food: - iron - vitamin B12 - folic acid These nutrients are necessary for red blood cells to make hemoglobin, the main oxygen-carrying protein in the red blood cells. If treatments for kidney-related anemia do not help, the health care provider will look for other causes of anemia, including - other problems with bone marrow - inflammatory problemssuch as arthritis, lupus, or inflammatory bowel diseasein which the bodys immune system attacks the bodys own cells and organs - chronic infections such as diabetic ulcers - malnutrition
Angiostrongylus cantonensis Diagnosing A. cantonensis infections can be difficult, in part because there are no readily available blood tests. Important clues that could lead to the diagnosis of infection are a history of travel to where the parasite is known to be found and ingestion of raw or undercooked snails, slugs, or possibly transport hosts (such as frogs, fresh water shrimp or land crabs) in those areas. A high level of eosinophils, a blood cell that can be elevated in the presence of a parasite, in the blood or in the fluid that surrounds the brain can be another important clue. Persons worried that they might be infected should consult their health care provider. Angiostrongylus costaricensis Diagnosing A. costaricensis infections can be difficult, in part because there are no readily available blood tests. Important clues that could lead to the diagnosis of infection are a history of travel to where the parasite is known to be found and ingestion of raw or undercooked slugs or food contaminated by infected slugs or their slime. A high blood level of eosinophils, a blood cell that can be elevated in the presence of a parasite, can be another important clue. Persons worried that they might be infected should consult their health care provider.
What causes lichen planus pigmentosus? The exact underlying cause of lichen planus pigmentosus is currently unknown. However, studies suggest that the condition may be triggered by viral infections, UV light or the application of certain oils on the hair or skin (i.e. mustard oil, amla oil).
These resources address the diagnosis or management of Czech dysplasia: - Genetic Testing Registry: Czech dysplasia metatarsal type 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
Finding out your test results can affect you emotionally. Learning that you are someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results. Covering the costs of testing can also be a challenge. Genetic testing can cost anywhere from less than $100 to more than $2,000. Health insurance companies may cover part or all of the cost of testing. Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Geneticists and genetic counselors can talk more specifically about what a particular test will or will not tell you, and can help you decide whether to undergo testing. Many people are worried about discrimination based on their genetic test results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. GINA does not apply to long-term care, disability, or life insurance providers. (For more information about genetic discrimination and GINA, see The Genetic Information Nondiscrimination Act of 2008.
After an electrocardiogram (EKG), the nurse or technician will remove the electrodes (soft patches) from your skin. You may develop a rash or redness where the EKG patches were attached. This mild rash often goes away without treatment. You usually can go back to your normal daily routine after an EKG.
There is no standard course of treatment for cerebellar hypoplasia. Treatment depends upon the underlying disorder and the severity of symptoms. Generally, treatment is symptomatic and supportive.
Lactose intolerance in infants (congenital lactase deficiency) is caused by mutations in the LCT gene. The LCT gene provides instructions for making the lactase enzyme. Mutations that cause congenital lactase deficiency are believed to interfere with the function of lactase, causing affected infants to have a severely impaired ability to digest lactose in breast milk or formula. Lactose intolerance in adulthood is caused by gradually decreasing activity (expression) of the LCT gene after infancy, which occurs in most humans. LCT gene expression is controlled by a DNA sequence called a regulatory element, which is located within a nearby gene called MCM6. Some individuals have inherited changes in this element that lead to sustained lactase production in the small intestine and the ability to digest lactose throughout life. People without these changes have a reduced ability to digest lactose as they get older, resulting in the signs and symptoms of lactose intolerance.
Both focal and scatter laser treatment are performed in your doctor's office or eye clinic. Before the surgery, your doctor will dilate your pupil and apply drops to numb the eye. The area behind your eye also may be numbed to prevent discomfort. The lights in the office will be dim. As you sit facing the laser machine, your doctor will hold a special lens to your eye. During the procedure, you may see flashes of light. These flashes eventually may create a stinging sensation that can be uncomfortable. You will need someone to drive you home after surgery. Because your pupil will remain dilated for a few hours, you should bring a pair of sunglasses. For the rest of the day, your vision will probably be a little blurry. If your eye hurts, your doctor can suggest treatment.
These resources address the diagnosis or management of Alport syndrome: - Gene Review: Gene Review: Alport Syndrome and Thin Basement Membrane Nephropathy - Genetic Testing Registry: Alport syndrome - Genetic Testing Registry: Alport syndrome, X-linked recessive - Genetic Testing Registry: Alport syndrome, autosomal dominant - Genetic Testing Registry: Alport syndrome, autosomal recessive - MedlinePlus Encyclopedia: Alport Syndrome - MedlinePlus Encyclopedia: End-Stage Kidney Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The type of small intestine cancer. - Whether the cancer is in the inner lining of the small intestine only or has spread into or beyond the wall of the small intestine. - Whether the cancer has spread to other places in the body, such as the lymph nodes, liver, or peritoneum (tissue that lines the wall of the abdomen and covers most of the organs in the abdomen). - Whether the cancer can be completely removed by surgery. - Whether the cancer is newly diagnosed or has recurred.
Ullrich congenital muscular dystrophy is a condition that mainly affects skeletal muscles (the muscles used for movement). Affected individuals show severe muscle weakness soon after birth, develop stiff joints (contractures) in their knees and elbows, and may have an unusual range of movement (hypermobility) in their wrists and ankles. This condition is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive pattern. In rare cases, this condition may be inherited in an autosomal dominant pattern.
Animal herders, livestock workers, and slaughterhouse workers in endemic areas are at risk of CCHF. Healthcare workers in endemic areas are at risk of infection through unprotected contact with infectious blood and body fluids. Individuals and international travelers with contact to livestock in endemic regions may also be exposed.
What are the signs and symptoms of Tracheoesophageal fistula? The Human Phenotype Ontology provides the following list of signs and symptoms for Tracheoesophageal fistula. 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) Esophageal atresia - Tracheoesophageal 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.
Twin-to-twin transfusion syndrome is a rare condition that occurs when blood moves from one identical twin (the donor twin) to the other (the recipient twin) while in the womb. The donor twin may be born smaller, with paleness, anemia, and dehydration. The recipient twin may be born larger, with redness, too much blood, and increased blood pressure, resulting in an increased risk for heart failure. Treatment may require repeated amniocentesis during pregnancy. Fetal laser surgery may be done to interrupt the flow of blood from one twin to the other. After birth, treatment depends on the infant's specific symptoms. The donor twin may need a blood transfusion to treat anemia. The recipient twin may need to have the volume of body fluid reduced. This may involve an exchange transfusion. Medications may be given to treat heart failure in the recipient twin.
Bilateral frontoparietal polymicrogyria (BFPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). BFPP specifically affects the frontal and parietal lobes on both sides of the brain (bilateral). Signs and symptoms typically include moderate to severe intellectual disability, developmental delay, seizures, cerebellar ataxia, strabismus, and dysconjugate gaze (eyes that are not aligned). Some cases are caused by mutations in the GPR56 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Several species of Paragonimus cause most infections; the most important is P. westermani, which occurs primarily in Asia including China, the Philippines, Japan, Vietnam, South Korea, Taiwan, and Thailand. P. africanus causes infection in Africa, and P. mexicanus in Central and South America. Specialty dishes in which shellfish are consumed raw or prepared only in vinegar, brine, or wine without cooking play a key role in the transmission of paragonimiasis. Raw crabs or crayfish are also used in traditional medicine practices in Korea, Japan, and some parts of Africa. Although rare, human paragonimiasis from P. kellicotti has been acquired in the United States, with multiple cases from the Midwest. Several cases have been associated with ingestion of uncooked crawfish during river raft float trips in Missouri.
Is tracheobronchomalacia inherited? Primary tracheobronchomalacia (TBM) is often associated with certain genetic conditions. In some cases, an affected person inherits the condition from an affected parent. Other cases may result from new (de novo) gene mutations. These cases occur in people with no history of the disorder in their family. When TBM is part of a genetic condition, it can be passed on to future generations. Secondary TBM (also called acquired TBM) is not inherited. It generally occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways.
SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. The few described cases of SADDAN have been caused by new mutations in the FGFR3 gene and occurred in people with no history of the disorder in their family. No individuals with this disorder are known to have had children; therefore, the disorder has not been passed to the next generation.
What causes geographic tongue? Is it genetic? The exact cause of geographic tongue has not been identified. However, because the condition may be present in several members of the same family, genetics may increase a person's chances of developing the condition. A study by Guimares (2007) showed that a specific variant of a gene called IL-1B (interleukin-1 beta) is associated with an increased risk of developing geographic tongue and suggests a genetic basis for the development of the disease. Further research may result in a better understanding of the genetic influences involved in the development of geographic tongue.
Nursing home care can be very expensive. Medicare generally doesn't cover nursing home care. There are many ways people can pay for nursing home care. For example, they can use their own money, they may be able to get help from their state, or they may use long-term care insurance. Nursing home care isn't covered by many types of health insurance. Most people who enter nursing homes begin by paying for their care out of their own pocket. As they use up their resources over a period of time, they may eventually become eligible for Medicaid. Medicaid is a state and Federal program that will pay most nursing home costs for people with limited income and resources. Eligibility varies by state. Medicaid pays for care for about 7 out of every 10 nursing home residents. Medicaid will pay for nursing home care only when provided in a Medicaid-certified facility. For information about Medicaid eligibility, call your state Medical Assistance (Medicaid) Office. If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit http://www.medicare.gov on the web. (Under "Search Tools," select "Find Helpful Phone Numbers and Websites.") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048.
Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly. The signs and symptoms of erythromelalgia typically begin in childhood, although mildly affected individuals may have their first pain episode later in life. As individuals with erythromelalgia get older and the disease progresses, the hands and feet may be constantly red, and the affected areas can extend from the hands to the arms, shoulders, and face, and from the feet to the entire legs. Erythromelalgia is often considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.
These resources address the diagnosis or management of familial acute myeloid leukemia with mutated CEBPA: - Fred Hutchison Cancer Research Center - Gene Review: Gene Review: CEBPA-Associated Familial Acute Myeloid Leukemia (AML) - Genetic Testing Registry: Acute myeloid leukemia - MedlinePlus Encyclopedia: Bone Marrow Biopsy - MedlinePlus Encyclopedia: Bone Marrow Transplant - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital 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
VACTERL association is a complex condition that may have different causes in different people. In some people, the condition is likely caused by the interaction of multiple genetic and environmental factors. Some possible genetic and environmental influences have been identified and are being studied. The developmental abnormalities characteristic of VACTERL association develop before birth. The disruption to fetal development that causes VACTERL association likely occurs early in development, resulting in birth defects that affect multiple body systems. It is unclear why the features characteristic of VACTERL association group together in affected individuals.
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
Age is the most important risk factor for prostate cancer. The disease is extremely rare in men under age 40, but the risk increases greatly with age. More than 60 percent of cases are diagnosed in men over age 65. The average age at the time of diagnosis is 65.
It is important to notify public health departments about even one person with marine toxin poisoning. Public health departments can then investigate to determine if a restaurant, oyster bed, or fishing area has a problem. This prevents other illnesses. In any food poisoning occurrence, consumers should note foods eaten and freeze any uneaten portions in case they need to be tested. A commercial test has been developed in Hawaii to allow persons to test sport caught fish for ciguatoxins.
Mutations in the GDF6, GDF3, or MEOX1 gene can cause Klippel-Feil syndrome. These genes are involved in proper bone development. The protein produced from the GDF6 gene is necessary for the formation of bones and joints, including those in the spine. While the protein produced from the GDF3 gene is known to be involved in bone development, its exact role is unclear. The protein produced from the MEOX1 gene, called homeobox protein MOX-1, regulates the process that begins separating vertebrae from one another during early development. GDF6 and GDF3 gene mutations that cause Klippel-Feil syndrome likely lead to reduced function of the respective proteins. MEOX1 gene mutations lead to a complete lack of homeobox protein MOX-1. Although the GDF6, GDF3, and homeobox protein MOX-1 proteins are involved in bone development, particularly formation of vertebrae, it is unclear how a shortage of one of these proteins leads to incomplete separation of the cervical vertebrae in people with Klippel-Feil syndrome. When Klippel-Feil syndrome is a feature of another disorder, it is caused by mutations in genes involved in the other disorder.
Diabetic neuropathies are a family of nerve disorders caused by diabetes. People with diabetes can, over time, develop nerve damage throughout the body. Some people with nerve damage have no symptoms. Others may have symptoms such as pain, tingling, or numbnessloss of feelingin the hands, arms, feet, and legs. Nerve problems can occur in every organ system, including the digestive tract, heart, and sex organs. About 60 to 70 percent of people with diabetes have some form of neuropathy. People with diabetes can develop nerve problems at any time, but risk rises with age and longer duration of diabetes. The highest rates of neuropathy are among people who have had diabetes for at least 25 years. Diabetic neuropathies also appear to be more common in people who have problems controlling their blood glucose, also called blood sugar, as well as those with high levels of blood fat and blood pressure and those who are overweight.
Most cases of 2q37 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family. Rarely, affected individuals inherit a copy of chromosome 2 with a deleted segment from an unaffected parent. In these cases, one of the parents carries a chromosomal rearrangement between chromosome 2 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Some individuals with 2q37 deletion syndrome inherit an unbalanced translocation that deletes genetic material near the end of the long arm of chromosome 2, which results in birth defects and other health problems characteristic of this disorder.
Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. Damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to seizures and intellectual disability. Other signs and symptoms may include hair loss, oligodontia, speech problems, frequent upper respiratory infections, difficulty swallowing, dystonia, and learning disabilities. LP is caused by changes (mutations) in the ECM1 gene and is inherited in an autosomal recessive manner. There is currently no cure for LP and treatment is based on the signs and symptoms present in each person.
Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dub syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dub syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dub syndrome.
Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. Narrowing and enlarging of arteries can block or reduce blood flow to the brain, causing a stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in people age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. Treatment is based on the arteries affected and the progression and severity of the disease.
What are the signs and symptoms of Annular pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Annular pancreas. 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 pancreas 90% Duodenal stenosis 90% Abnormality of the gastric mucosa 50% Annular pancreas - Autosomal dominant inheritance - High intestinal obstruction - 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.
Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene.
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.
Different factors increase or decrease the risk of oral cavity and oropharyngeal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for oral cavity and oropharyngeal cancer, see the PDQ summary on Oral Cavity and Oropharyngeal Cancer Prevention.
How might palmoplantar keratoderma be treated? Treatment of both hereditary and nonhereditary palmoplantar keratodermas is difficult. Treatment usually only results in short-term improvement and often has adverse side effects. The goal of treatment is usually to soften the thickened skin and makes it less noticeable. Treatment may include simple measures such as saltwater soaks, emollients, and paring. More aggressive treatment includes topical keratolytics, topical retinoids, systemic retinoids (acitretin), topical vitamin D ointment (calcipotriol), or surgery to removed the skin, following by skin grafting.
These resources address the diagnosis or management of alpha thalassemia: - Gene Review: Gene Review: Alpha-Thalassemia - Genetic Testing Registry: alpha Thalassemia - MedlinePlus Encyclopedia: Thalassemia - University of California, San Francisco Fetal Treatment Center: Stem Cell Treatments 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
Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion.
The prevalence of HMDPC is unknown. A small number of cases have been described in the scientific literature.
PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation modifies proteins so they can perform a wider variety of functions. Mutations in the PMM2 gene lead to the production of an abnormal PMM2 enzyme with reduced activity. Without a properly functioning PMM2 enzyme, glycosylation cannot proceed normally. As a result, incorrect oligosaccharides are produced and attached to proteins. The wide variety of signs and symptoms in PMM2-CDG are likely due to the production of abnormally glycosylated proteins in many organs and tissues.
How is tularemia treated? The goal of treatment is to cure the infection with antibiotics. Streptomycin and tetracycline are commonly used to treat this infection. Once daily gentamycin treatment has been tried with excellent results as an alternative therapy to streptomycin. However, only a few cases have been studied to date. Tetracycline and Chloramphenicol can be used alone, but they are not considered a first-line treatment.
PXE affects approximately 1 in 50,000 people worldwide. For reasons that are unclear, this disorder is diagnosed twice as frequently in females as in males.
Hereditary hyperekplexia has different inheritance patterns. This condition can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. Hereditary hyperekplexia can also be 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 disorder typically each carry one copy of the altered gene, but do not show signs and symptoms of the disorder. Rarely, hereditary hyperekplexia is inherited in an X-linked pattern. In these cases, the gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some degree of hair loss. In women, hair loss is most likely after menopause.
The two most common forms of diabetes are type 1 and type 2. Currently, there is no way to delay or prevent type 1 diabetes. However, research has shown that making modest lifestyle changes can prevent or delay type 2 diabetes in people at risk for the disease. In the Diabetes Prevention Program (DPP), a landmark study by the National Institute of Diabetes and Digestive and Kidney Diseases, researchers found that adults at high risk for type 2 diabetes were able to cut their risk in half by losing a modest amount of weight and being active almost every day. This means losing 5 to 7 percent of body weight (that's 10 pounds if you weigh 200 pounds) and getting 150 minutes of physical activity a week. The DPP study also showed that modest weight loss (achieved by following a low calorie, low-fat diet) and moderate physical activity were especially effective in preventing or delaying the development of diabetes in older people. In fact, people over the age of 60 were able to reduce their risk for developing type 2 diabetes by 71 percent. (Watch the video to learn more about preventing type 2 diabetes. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)
Systemic capillary leak syndrome is a condition in which fluid and proteins leak out of tiny blood vessels and flow into surrounding tissues, resulting in dangerously low blood pressure. Attacks frequently last for several days and require emergency care. Most cases of capillary leak occur randomly in previously healthy adults. Treatment involves preventing attacks using medications which may decrease capillary leakage and interfere with hormones that may cause future leakage. Once an attack is underway, treatment is aimed at controlling blood pressure to maintain blood flow to vital organs and prevention of swelling due to fluid accumulation. Capillary leak syndrome may lead to multiple organ failure, shock and even death.
What causes tubular aggregate myopathy? Currently, the underlying cause of tubular aggregate myopathy is not known. Some cases appear to be due to dominant mutations in the STIM1 gene.
Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.
These resources address the diagnosis or management of warfarin resistance: - American Society of Hematology: Antithrombotic Therapy - MedlinePlus Drugs & Supplements: Warfarin - PharmGKB 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
How is Mnire's disease diagnosed? The hallmark of Mnire's disease is the fluctuation, waxing and waning of symptoms. Proper diagnosis of Mnire's disease entails several procedures, including a medical history interview; a physical examination; hearing and balance tests; and medical imaging with magnetic resonance imaging (MRI). Accurate measurement and characterization of hearing loss are of critical importance in the diagnosis of Mnire's disease. Through the use of several types of hearing tests, physicians can characterize hearing loss as being sensory (arising from the inner ear) or neural (arising from the hearing nerve). Recording the auditory brain stem response, which measures electrical activity in the hearing nerve and brain stem, is useful in differentiating between these two types of hearing loss. Electrocochleography, recording the electrical activity of the inner ear in response to sound, helps confirm the diagnosis. To test the vestibular or balance system, physicians irrigate the ears with warm and cool water or air. This procedure, known as caloric testing, results in nystagmus, rapid eye movements that can help a physician analyze a balance disorder. Since tumor growth can produce symptoms similar to Mnire's disease, an MRI is a useful test to determine whether a tumor is causing the patient's vertigo and hearing loss.
These resources address the diagnosis or management of Manitoba oculotrichoanal syndrome: - Gene Review: Gene Review: Manitoba Oculotrichoanal Syndrome - Genetic Testing Registry: Marles Greenberg Persaud syndrome - MedlinePlus Encyclopedia: Omphalocele Repair 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
Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. This complex functions by transporting other proteins within the mitochondria. Most mutations in the TIMM8A gene result in the absence of functional TIMM8A protein inside the mitochondria, which prevents the formation of the TIMM8A/TIMM13 complex. Researchers believe that the lack of this complex leads to abnormal protein transport, although it is unclear how abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome.
Persistent Mllerian duct syndrome is a rare disorder; however, the prevalence of the condition is unknown.
How is a subtype of Waardenburg syndrome type 2 diagnosed? Subtypes of Waardenburg syndrome type 2 are determined by the suspected genetic cause of the condition in a family. In some subtypes, the genetic cause is a known gene. In other subtypes, the general location (locus) of the genetic cause has been identified, but the specific gene is not yet known. There are five different subtypes: Type 2A is caused by a change (mutation) in the MITF gene on chromosome 3 Type 2B is associated with a locus on chromosome 1 Type 2C is associated with a locus on chromosome 8 Type 2D is caused by mutations is the SNAI2 gene on chromosome 8 Type 2E is caused by mutations in the SOX10 gene on chromosome 22 Because subtypes are defined by the underlying genetic cause, they are not diagnosed by physical features identified during a physical exam. Physical features may be used to distinguish between types of Waardenburg syndrome, such as Type 1 or Type 2, but do not help identify a specific subtype.
Botulism can result in death due to respiratory failure. However, in the past 50 years the proportion of patients with botulism who die has fallen from about 50% to 3-5%. A patient with severe botulism may require a breathing machine as well as intensive medical and nursing care for several months, and some patients die from infections or other problems related to remaining paralyzed for weeks or months. Patients who survive an episode of botulism poisoning may have fatigue and shortness of breath for years and long-term therapy may be needed to aid recovery.
What are the signs and symptoms of Optic atrophy 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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) Absent Achilles reflex - Babinski sign - Dysarthria - Dysdiadochokinesis - Hyperactive patellar reflex - Intellectual disability - Optic atrophy - Tremor - 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.
Spastic paraplegia type 31 is one of a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of one to 12 per 100,000 individuals. Spastic paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant hereditary spastic paraplegia cases.
Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as "coarse." Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood. Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.