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These resources address the diagnosis or management of PRS superactivity: - Gene Review: Gene Review: Phosphoribosylpyrophosphate Synthetase Superactivity - Genetic Testing Registry: Phosphoribosylpyrophosphate synthetase superactivity - MedlinePlus Encyclopedia: Hearing Loss - MedlinePlus Encyclopedia: Movement, Uncoordinated 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
Helicobacter pylori (H. pylori) is a type of bacteria that causes infection in the stomach. It is found in about two-thirds of the world's population. It may be spread by unclean food and water, but researchers aren't sure. It causes Peptic ulcers and can also cause stomach cancer. If you have symptoms of a peptic ulcer, your doctor will test your blood, breath or stool to see if it contains H. pylori. The best treatment is a combination of antibiotics and acid-reducing medicines. You will need to be tested after treatment to make sure the infection is gone. To help prevent an H. pylori infection, you should - Wash your hands after using the bathroom and before eating - Eat properly prepared food - Drink water from a clean, safe source NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy; special shoes; surgery as needed; mobility aids; and other supportive treatments.
These resources address the diagnosis or management of Gitelman syndrome: - Genetic Testing Registry: Familial hypokalemia-hypomagnesemia 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
FIBGC is thought to be a rare disorder; about 60 affected families have been described in the medical literature. However, because brain imaging tests are needed to recognize the calcium deposits, this condition is believed to be underdiagnosed.
What are the signs and symptoms of Retinal cone dystrophy 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal cone dystrophy 4. 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 - Reduced amplitude of dark-adapted bright flash electroretinogram b-wave - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Treatment begins with exercise programs and physical therapy to strengthen chest muscles, restore normal posture, and relieve compression by increasing the space of the area the nerve passes through. Doctors will often prescribe non-steroidal anti-inflammatory drugs (such as naproxen or ibuprofen) for pain. Other medicines include thromobolytics to break up blood clots and anticoagulants to prevent clots. If this doesn't relieve pain, a doctor may recommend thoracic outlet decompression surgery to release or remove the structures causing compression of the nerve or artery.
The incidence of hyperlysinemia is unknown.
The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy. Sometimes, however, the process goes wrong. Cells become abnormal and form more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous.
How do people inherit Duchenne and Becker muscular dystrophy? Duchenne and Becker muscular dystrophy are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about two thirds of cases, an affected male inherits the mutation from a mother who carries an altered copy of the DMD gene. The other one third of cases probably result from new mutations in the gene. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Occasionally, however, females who carry a DMD mutation may have muscle weakness and cramping. These symptoms are typically milder than the severe muscle weakness and atrophy seen in affected males. Females who carry a DMD mutation also have an increased risk of developing heart abnormalities including dilated cardiomyopathy.
What are the signs and symptoms of Quinquaud's decalvans folliculitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Quinquaud's decalvans folliculitis. 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) Alopecia 90% Pustule 90% Skin ulcer 90% Atypical scarring of skin 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Cant syndrome results from mutations in the ABCC9 gene. This gene provides instructions for making one part (subunit) of a channel that transports charged potassium atoms (potassium ions) across cell membranes. Mutations in the ABCC9 gene alter the structure of the potassium channel, which causes the channel to open when it should be closed. It is unknown how this problem with potassium channel function leads to excess hair growth, heart defects, and the other features of Cant syndrome.
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. Problems related to LCHAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
What causes a renal oncocytoma? The exact underlying cause of most renal oncocytomas is unknown. However, researchers suspect that acquired (not present at birth) changes in mitochondrial DNA may play a role in the development of some of these tumors. Renal oncocytomas sometimes occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. In these cases, affected people often have multiple and bilateral (affecting both kidneys) oncocytomas and may also have family members with these tumors. When renal oncocytomas are part of a genetic syndrome, they are caused by changes (mutations) in a specific gene. Tuberous sclerosis complex is caused by mutations in the TSC1 gene or TSC2 gene, while Birt-Hogg-Dube syndrome is caused by mutations in the FLCN gene.
This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. 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, 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.
HSAN5 is very rare. Only a few people with the condition have been identified.
GRACILE syndrome is found almost exclusively in Finland, where it is estimated to affect 1 in 47,000 infants. At least 32 affected infants have been described in the medical literature.
Women with an increased risk of ovarian cancer may consider surgery to lessen the risk. Some women who have an increased risk of ovarian cancer may choose to have a risk-reducing oophorectomy (the removal of healthy ovaries so that cancer cannot grow in them). In high-risk women, this procedure has been shown to greatly decrease the risk of ovarian cancer. (See the PDQ summary on Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention for more information.)
Connective tissue is the material inside your body that supports many of its parts. It is the "cellular glue" that gives your tissues their shape and helps keep them strong. It also helps some of your tissues do their work. Cartilage and fat are examples of connective tissue. There are over 200 disorders that impact connective tissue. Some, like cellulitis, are the result of an infection. Injuries can cause connective tissue disorders, such as scars. Others, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta, are genetic. Still others, like scleroderma, have no known cause. Each disorder has its own symptoms and needs different treatment.
This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys with 47,XYY syndrome are born in the United States each day.
The NINDS conducts and supports research on trauma-related disorders such as whiplash. Much of this research focuses on increasing scientific understanding of these disorders and finding ways to prevent and treat them.
Treatment for encephalitis lethargica is symptomatic. Levodopa and other antiparkinson drugs often produce dramatic responses.
These resources address the diagnosis or management of primary hyperoxaluria: - Gene Review: Gene Review: Primary Hyperoxaluria Type 1 - Gene Review: Gene Review: Primary Hyperoxaluria Type 2 - Gene Review: Gene Review: Primary Hyperoxaluria Type 3 - Genetic Testing Registry: Hyperoxaluria - Genetic Testing Registry: Primary hyperoxaluria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What causes Lafora disease? Most cases of Lafora disease are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain. Although the proteins are thought to have many functions in the body, one important role is to help regulate the production of a complex sugar called glycogen (an important source of stored energy in the body). Mutations in the EPM2A gene or the NHLRC1 gene interfere with the production of functional proteins, leading to the formation of Lafora bodies (clumps of abnormal glycogen that cannot be broken down and used for fuel) within cells. A build up of Lafora bodies appears to be especially toxic to the cells of the nervous system and leads to the signs and symptoms of Lafora disease.
Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't produce enough of a brain chemical called dopamine. Sometimes it is genetic, but most cases do not seem to run in families. Exposure to chemicals in the environment might play a role. Symptoms begin gradually, often on one side of the body. Later they affect both sides. They include - Trembling of hands, arms, legs, jaw and face - Stiffness of the arms, legs and trunk - Slowness of movement - Poor balance and coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple tasks. They may also have problems such as depression, sleep problems, or trouble chewing, swallowing, or speaking. There is no lab test for PD, so it can be difficult to diagnose. Doctors use a medical history and a neurological examination to diagnose it. PD usually begins around age 60, but it can start earlier. It is more common in men than in women. There is no cure for PD. A variety of medicines sometimes help symptoms dramatically. Surgery and deep brain stimulation (DBS) can help severe cases. With DBS, electrodes are surgically implanted in the brain. They send electrical pulses to stimulate the parts of the brain that control movement. NIH: National Institute of Neurological Disorders and Stroke
9q22.3 microdeletion appears to be a rare chromosomal change. About three dozen affected individuals have been reported in the medical literature.
Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people.
There are two main ways to lower your cholesterol: Therapeutic Lifestyle Changes and medicines.
These resources address the diagnosis or management of Allan-Herndon-Dudley syndrome: - Gene Review: Gene Review: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency - Genetic Testing Registry: Allan-Herndon-Dudley syndrome - MedlinePlus Encyclopedia: Intellectual Disability - MedlinePlus Encyclopedia: T3 Test 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
Summary : Even if you use them properly, many chemicals can still harm human health and the environment. When you throw these substances away, they become hazardous waste. Some hazardous wastes come from products in our homes. Our garbage can include such hazardous wastes as old batteries, bug spray cans and paint thinner. U.S. residents generate 1.6 million tons of household hazardous waste per year. Hazardous waste is also a by-product of manufacturing. You may have hazardous wastes in your basement or garage. How do you get rid of them? Don't pour them down the drain, flush them, or put them in the garbage. See if you can donate or recycle. Many communities have household hazardous waste collection programs. Check to see if there is one in your area. Environmental Protection Agency
The main reason to have knee replacement surgery is to ease pain and disability caused by arthritis or other joint problems, while preserving movement. Less commonly, it is used to correct some kinds of knee deformity.
What are the signs and symptoms of Kyrle disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Kyrle disease. 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 skin - Autosomal dominant inheritance - Posterior subcapsular 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.
You can prevent many of the causes of ED by making healthy lifestyle choices. Following a healthy diet may help prevent ED. Quitting smoking and getting physical activity are also important ways to prevent ED. Physical activity increases blood flow throughout your body, including your penis. Talk with your doctor before starting new activities. If you have not been active, start slow, with easier activities such as walking at a normal pace or gardening. Then you can work up to harder activities such as walking briskly or swimming. Try to aim for at least 30 minutes of activity most days of the week.
How might neonatal progeroid syndrome be treated? Because neonatal progeroid syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment varies based on the signs and symptoms present in each person. For example, a feeding tube may be recommended in infants with feeding difficulties who have trouble putting on weight.
Without treatment, iron may build up in the organs and cause complications, including - cirrhosis, or scarring of liver tissue - diabetes - irregular heart rhythms or weakening of the heart muscle - arthritis - erectile dysfunction The complication most often associated with hemochromatosis is liver damage. Iron buildup in the liver causes cirrhosis, which increases the chance of developing liver cancer. For some people, complications may be the first sign of hemochromatosis. However, not everyone with hemochromatosis will develop complications.
These resources address the diagnosis or management of ALPS: - Gene Review: Gene Review: Autoimmune Lymphoproliferative Syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome type 1, autosomal recessive - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome, type 1a - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome, type 1b - Genetic Testing Registry: Autoimmune lymphoproliferative syndrome, type 2 - Genetic Testing Registry: RAS-associated autoimmune leukoproliferative disorder - National Institute of Allergy and Infectious Diseases (NIAID): ALPS 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
Signs of colon cancer include blood in the stool or a change in bowel habits. These and other signs and symptoms may be caused by colon cancer or by other conditions. Check with your doctor if you have any of the following: - A change in bowel habits. - Blood (either bright red or very dark) in the stool. - Diarrhea, constipation, or feeling that the bowel does not empty all the way. - Stools that are narrower than usual. - Frequent gas pains, bloating, fullness, or cramps. - Weight loss for no known reason. - Feeling very tired. - Vomiting.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abut the brain and nervous system, and to use that knowledge to reduce the burden of neurological diseaset. The NINDS conducts and supports research to understand lipid storage diseases such as acid lipase deficiency. Additional research studies hope to identify biomarkers (signs that may indicate risk of a disease and improve diagnosis) for thee lipid storage diseases that will speed the development of novel therapeutics for these disorders. Other investigators hope to establish an international disease registry designed to collect longitudinal data that would be used to improve the care and treatment of individuals with lysosomal acid lipase deficiency. The National Library of Medicine (NLM), a part of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, offers free searches of biomedical literature through an Internet service called PubMed. To search, go to: http://www.ncbi.nlm.nih.gov/PubMed . The NLM also offers extensive health information from NIH and other trusted sources. To research your condition, go to: http://www.medlineplus.gov .
How might type 1 plasminogen deficiency be treated? The treatment options available for type 1 plasminogen deficiency are few. However, some researchers have shown that the ligneous lesions can be reversed by plasminogen infusion, with changes occurring within 3 days and restored to normal after 2 weeks of treatment. Recurrence has been prevented by daily injections with plasminogen sufficient to achieve plasma concentrations to approximately 40% of the normal amount of plasminogen. Treatment with topical plasminogen has also been successful and resulted in dramatic improvement and complete resolution of the membranes. In some women, treatment with oral contraceptives have resulted in an increase in the levels of plasminogen and some resolution of the pseudomembrane.
Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body. If gene mutations reduce the activity of phenylalanine hydroxylase, phenylalanine from the diet is not processed effectively. As a result, this amino acid can build up to toxic levels in the blood and other tissues. Because nerve cells in the brain are particularly sensitive to phenylalanine levels, excessive amounts of this substance can cause brain damage. Classic PKU, the most severe form of the disorder, occurs when phenylalanine hydroxylase activity is severely reduced or absent. People with untreated classic PKU have levels of phenylalanine high enough to cause severe brain damage and other serious medical problems. Mutations in the PAH gene that allow the enzyme to retain some activity result in milder versions of this condition, such as variant PKU or non-PKU hyperphenylalaninemia. Changes in other genes may influence the severity of PKU, but little is known about these additional genetic factors.
What are the signs and symptoms of Osteopoikilosis and dacryocystitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopoikilosis and dacryocystitis. 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) Increased bone mineral density 90% Lacrimation abnormality 90% Autosomal dominant inheritance - Dacrocystitis - Osteopoikilosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of iridocorneal endothelial (ICE) syndrome? The most common feature of ICE syndrome is the movement of endothelial cells off the cornea onto the iris. This loss of cells from the cornea often leads to swelling of the cornea, distortion of the iris, and variable degrees of distortion of the pupil (the adjustable opening at the center of the iris that allows varying amounts of light to enter the eye). This cell movement also plugs the fluid outflow channels of the eye, causing glaucoma.
These resources address the diagnosis or management of Norrie disease: - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Atrophia bulborum hereditaria 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 Landau-Kleffner syndrome (LKS) diagnosed? LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All LKS children have abnormal electrical brain activity on both the right and left sides of their brains.
There is no cure for Isaacs' syndrome. The long-term prognosis for individuals with the disorder is uncertain.
IRAK-4 deficiency is a very rare condition, although the exact prevalence is unknown. At least 49 individuals with this condition have been described in the scientific literature.
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.
Mutations in the COL4A3, COL4A4, and COL4A5 genes cause Alport syndrome. These genes each provide instructions for making one component of a protein called type IV collagen. This protein plays an important role in the kidneys, specifically in structures called glomeruli. Glomeruli are clusters of specialized blood vessels that remove water and waste products from blood and create urine. Mutations in these genes result in abnormalities of the type IV collagen in glomeruli, which prevents the kidneys from properly filtering the blood and allows blood and protein to pass into the urine. Gradual scarring of the kidneys occurs, eventually leading to kidney failure in many people with Alport syndrome. Type IV collagen is also an important component of inner ear structures, particularly the organ of Corti, that transform sound waves into nerve impulses for the brain. Alterations in type IV collagen often result in abnormal inner ear function, which can lead to hearing loss. In the eye, this protein is important for maintaining the shape of the lens and the normal color of the retina. Mutations that disrupt type IV collagen can result in misshapen lenses and an abnormally colored retina.
In about 80 percent of people with primary hyperparathyroidism, a benign, or noncancerous, tumor called an adenoma has formed in one of the parathyroid glands.2 The tumor causes the gland to become overactive. In most other cases, the excess hormone comes from two or more overactive parathyroid glands, a condition called multiple tumors or hyperplasia. Rarely, primary hyperparathyroidism is caused by cancer of a parathyroid gland. In most cases, health care providers dont know why adenoma or multiple tumors occur in the parathyroid glands. Most people with primary hyperparathyroidism have no family history of the disorder, but some cases can be linked to an inherited problem. For example, familial multiple endocrine neoplasia type 1 is a rare, inherited syndrome that causes multiple tumors in the parathyroid glands as well as in the pancreas and the pituitary gland. Another rare genetic disorder, familial hypocalciuric hypercalcemia, causes a kind of hyperparathyroidism that is atypical, in part because it does not respond to standard parathyroid surgery.
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.
Alpha thalassemia X-linked intellectual disability syndrome appears to be a rare condition, although its exact prevalence is unknown. More than 200 affected individuals have been reported.
How is amniotic band syndrome diagnosed? The earliest reported detection of an amniotic band is at 12 weeks gestation, by vaginal ultrasound. On ultrasound the bands appear as thin, mobile lines, which may be seen attached to or around the baby. However these bands may be difficult to detect by ultrasound, and are more often diagnosed by the results of the fusion, such as missing or deformed limbs.
What are the signs and symptoms of Tetralogy of fallot and glaucoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Tetralogy of fallot and glaucoma. 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 - Congenital glaucoma - Tetralogy of Fallot - 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.
Human papillomavirus infection may increase the risk of developing penile cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for penile cancer include the following: Circumcision may help prevent infection with the human papillomavirus (HPV). A circumcision is an operation in which the doctor removes part or all of the foreskin from the penis. Many boys are circumcised shortly after birth. Men who were not circumcised at birth may have a higher risk of developing penile cancer. Other risk factors for penile cancer include the following: - Being age 60 or older. - Having phimosis (a condition in which the foreskin of the penis cannot be pulled back over the glans). - Having poor personal hygiene. - Having many sexual partners. - Using tobacco products.
The most commonly used imaging procedure is the computed tomography or CT scan, also known as a CAT scan. A CT scan is comprised of a series of cross-sectional images of the head and brain. Because it is readily available at all hours at most major hospitals, produces images quickly, and is good for ruling out hemorrhage prior to starting thrombolytic therapy, CT is the most widely used diagnostic imaging technique for acute stroke. A CT scan may show evidence of early ischemia an area of tissue that is dead or dying due to a loss of blood supply. Ischemic strokes generally show up on a CT scan about six to eight hours after the start of stroke symptoms.
Mutations in the NAGA gene cause Schindler disease. The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase. This enzyme works in the lysosomes, which are compartments within cells that digest and recycle materials. Within lysosomes, the enzyme helps break down complexes called glycoproteins and glycolipids, which consist of sugar molecules attached to certain proteins and fats. Specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycolipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease.
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.
Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the legs. The arm muscles are generally less affected or not affected at all. Other signs and symptoms may include delayed motor or movement milestones (i.e. rolling over, sitting, standing); walking on toes; and a "scissored" gait (style of walking). It occurs when the portion of the brain that controls movement is damaged or develops abnormally. The exact underlying cause is often unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; and/or injury before, during or shortly after birth. There is no cure, and treatment options vary depending on the signs and symptoms present in each person and the severity of the condition.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is usually sufficient to cause the disorder. About 20 percent of people who have the mutation that causes Caffey disease do not experience its signs or symptoms; this phenomenon is called incomplete penetrance. In some cases, an affected person inherits the mutation that causes Caffey disease from a parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
How might fibrous dysplasia be treated? Unfortunately, there is no cure for fibrous dysplasia. Treatment depends on the symptoms that develop. Fractures often require surgery, but can sometimes be treated with casting or splints.] Surgery is most appropriate in cases where fractures are likely to occur, or where bones have become misshapen. Surgery may also be used to relieve pain. Medications known as bisphosphonates are also used to relieve bone pain. Other healthy strategies such as physical activity and adequate intake of calcium, phosphorus, and vitamin D are also encouraged.[ Radiation therapy is not recommended for patients with fibrous dysplasia because it is associated with an increased risk of cancerous transformation. Careful, long-term follow-up to monitor fibrous dysplasia is advised.
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. This condition can be treated by suppressing the immune system with steroids.
What are the signs and symptoms of autoimmune autonomic ganglionopathy? The symptoms of autoimmune autonomic ganglionopathy can include: Severe orthostatic hypotension (low blood pressure upon standing) that persists for weeks to years Fainting Constipation and gastrointestinal dysmotility (a condition in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently) Urinary retention Fixed and dilated pupils Dry mouth and eyes Some people with autoimmune autonomic ganglionopathy present with POTS-like symptoms.
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.
Fumarase deficiency is an inherited condition that primarily affects the nervous system, especially the brain. Affected infants may have microcephaly, abnormal brain structure, severe developmental delay, weak muscle tone (hypotonia), failure to thrive, seizures, and/or distinctive facial features. Other signs and symptoms may include hepatosplenomegaly, an excess of red blood cells (polycythemia), and/or or deficiency of white blood cells (leukopenia). Affected individuals usually survive only a few months, but a few have lived into early adulthood. This condition is caused by mutations in the FH gene and is inherited in an autosomal recessive manner. No effective treatment is currently available.
ZAP70-related SCID is a rare disorder. Only about 20 affected individuals have been identified. The prevalence of SCID from all genetic causes combined is approximately 1 in 50,000.
Hemochromatosis is the most common form of iron overload disease. Too much iron in the body causes hemochromatosis. Iron is important because it is part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues. However, too much iron in the body leads to iron overloada buildup of extra iron that, without treatment, can damage organs such as the liver, heart, and pancreas; endocrine glands; and joints. The three types of hemochromatosis are primary hemochromatosis, also called hereditary hemochromatosis; secondary hemochromatosis; and neonatal hemochromatosis.
Mutations in the NOTCH3 gene cause CADASIL. The NOTCH3 gene provides instructions for producing the Notch3 receptor protein, which is important for the normal function and survival of vascular smooth muscle cells. When certain molecules attach (bind) to Notch3 receptors, the receptors send signals to the nucleus of the cell. These signals then turn on (activate) particular genes within vascular smooth muscle cells. NOTCH3 gene mutations lead to the production of an abnormal Notch3 receptor protein that impairs the function and survival of vascular smooth muscle cells. Disruption of Notch3 functioning can lead to the self-destruction (apoptosis) of these cells. In the brain, the loss of vascular smooth muscle cells results in blood vessel damage that can cause the signs and symptoms of CADASIL.
Only a small amount of the salt that we eat comes from the salt shaker, and only small amounts occur naturally in food. Most of the salt that we eat comes from processed foods -- for example, canned or processed meat, baked goods, and certain cereals, and foods with soy sauce, seasoned salts, monosodium glutamate (MSG), and baking soda. Food from fast food restaurants, frozen foods, and canned foods also tend to be higher in sodium.
Is genetic testing available for pachyonychia congenita? Yes, genetic testing is available for the five genes known to cause pachyonychia congenita. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is pachyonychia congenita diagnosed? A diagnosis of pachyonychia congenita (PC) is often suspected based on the presence of characteristic signs and symptoms. In fact, one study found that approximately 97% of people with genetically confirmed PC have toenail thickening, plantar keratoderma (thickening of the skin on the soles of the feet) and plantar pain by age ten. Identification of a change (mutation) in one of the five genes associated with PC confirms the diagnosis.
How might dominant optic atrophy be treated? There is currently no cure for dominant optic atrophy (DOA). Management generally consists of regular eye exams, including measurement of visual acuity, color vision, visual fields and optical coherence tomography (OCT). Currently there is no specific treatment, but low-vision aids in individuals with severely decreased visual acuity can be helpful. A preliminary study published in February 2013 found that several individuals with specific OPA1 mutations who underwent idebenone therapy (which has been used to treat some cases of Leber hereditary optic neuropathy) experienced some improvement of visual function. However, more thorough research is necessary to confirm these findings. Acupuncture is also being studied as a potential treatment. Avoiding tobacco and alcohol intake and certain medications (antibiotics, antivirals), which can interfere with mitochondrial metabolism, may help to slow the progression. Cochlear implants have been shown to markedly improve hearing in individuals with sensorineural hearing loss.
What causes triple A syndrome? Mutations in the AAAS gene cause triple A syndrome in many affected individuals. This gene provides instructions for making a protein called ALADIN, whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location, ALADIN is thought to be involved in the movement of molecules into and out of the nucleus of the cell. Mutations in the AAAS gene prevent this protein from reaching its proper location in the cell, which may disrupt the movement of molecules. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the cell to become unstable and lead to cell death. Although the nervous system is particularly vulnerable to DNA damage, it remains unknown exactly how mutations in the AAAS gene lead to the signs and symptoms of triple A syndrome. Some individuals with triple A syndrome do not have an identified mutation in the AAAS gene; in these individuals, the genetic cause of the disorder is unknown.
The prevalence of FG syndrome is unknown, although several hundred cases have been reported worldwide. Researchers suspect that FG syndrome may be overdiagnosed because many of its signs and symptoms are also seen with other disorders.
Summary : Caffeine is a bitter substance found in coffee, tea, soft drinks, chocolate, kola nuts, and certain medicines. It has many effects on the body's metabolism, including stimulating the central nervous system. This can make you more alert and give you a boost of energy. For most people, the amount of caffeine in two to four cups of coffee a day is not harmful. However, too much caffeine can cause problems. It can - Make you jittery and shaky - Make it hard to fall asleep or stay asleep - Cause headaches or dizziness - Make your heart beat faster or cause abnormal heart rhythms - Cause dehydration - Make you dependent on it so you need to take more of it. If you stop using caffeine, you could get withdrawal symptoms. Some people are more sensitive to the effects of caffeine than others. They should limit their use of caffeine. So should pregnant and nursing women. Certain drugs and supplements may interact with caffeine. If you have questions about whether caffeine is safe for you, talk with your health care provider. Food and Drug Administration
The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly). The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported.
Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus. Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.
Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles. Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. The weakness can also affect muscles in the hands, wrists, and shoulders. At first, the muscle weakness may be on only one side of the body, but both sides are eventually involved. This muscle weakness can slowly worsen and make actions like walking and lifting the fingers difficult. Another characteristic feature of distal myopathy 2 is weakness of the vocal cords and throat. This weakness initially causes the voice to sound weak or breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. The weakness can also cause difficulty swallowing (dysphagia).
The use of certain medicines and other factors decrease the risk of breast cancer. Anything that decreases your chance of getting a disease is called a protective factor. Protective factors for breast cancer include the following: - Taking any of the following: - Estrogen-only hormone therapy after a hysterectomy. - Selective estrogen receptor modulators (SERMs). - Aromatase inhibitors. - Less exposure of breast tissue to estrogen made by the body. This can be a result of: - Early pregnancy. - Breastfeeding. - Getting enough exercise. - Having any of the following procedures: - Mastectomy to reduce the risk of cancer. - Oophorectomy to reduce the risk of cancer. - Ovarian ablation.
Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.
What causes nephrogenic diabetes insipidus? Nephrogenic diabetes insipidus can be either acquired or hereditary. The acquired form can result from chronic kidney disease, certain medications (such as lithium), low levels of potassium in the blood (hypokalemia), high levels of calcium in the blood (hypercalcemia), or an obstruction of the urinary tract. Acquired nephrogenic diabetes insipidus can occur at any time during life. The hereditary form of nephrogenic diabetes insipidus is caused by genetic mutations, and its signs and symptoms usually become apparent within the first few months of life.
Dumping syndrome occurs when food, especially sugar, moves too fast from the stomach to the duodenumthe first part of the small intestinein the upper gastrointestinal (GI) tract. This condition is also called rapid gastric emptying. Dumping syndrome has two forms, based on when symptoms occur: - early dumping syndromeoccurs 10 to 30 minutes after a meal - late dumping syndromeoccurs 2 to 3 hours after a meal
Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to nerve cells. The symptoms vary widely from person to person, and may include sensory disturbances in the limbs, problems with muscle control, tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness, difficulty walking, poor bladder control, and vision problems. Most patients have periods during which they have symptoms (clinical attacks). The clinical attacks are typically followed by periods without any symptoms (remission). After several years, the symptoms worsen continuously. Multiple sclerosis is considered an autoimmune disorder but the exact cause is unknown. Risk factors for developing multiple sclerosis include genetic factors like changes in the HLA-DRB1 gene and in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking. The goal of treatment of MS is to decrease attacks and the inflammation within the central nervous system.
These resources address the diagnosis or management of multiple mitochondrial dysfunctions syndrome: - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1 - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2 - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 3 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.
Calories provide energy for your body. If your doctor recommends it, you may need to cut down on the calories you eat. A dietitian can help you plan ways to cut calories in the best possible way. Some people on dialysis need to gain weight. You may need to find ways to add calories to your diet. Vegetable oils-like olive oil, canola oil, and safflower oil-are good sources of calories. Use them generously on breads, rice, and noodles. Butter and margarines are rich in calories. But these fatty foods can also clog your arteries. Use them less often. Soft margarine that comes in a tub is better than stick margarine. Vegetable oils are the healthiest way to add fat to your diet if you need to gain weight. Hard candy, sugar, honey, jam, and jelly provide calories and energy without clogging arteries or adding other things that your body does not need. If you have diabetes, be very careful about eating sweets. A dietitian's guidance is very important for people with diabetes.
What are the signs and symptoms of Tietze syndrome? The signs and symptoms of Tietze syndrome usually develop in young adulthood (before age 40). The most common symptom is mild to severe chest pain that may extend into the arms and/or shoulders. The onset of pain can be gradual or sudden and may worsen with coughing, sneezing, or deep breathing. More than 70% of cases occur on only one side (unilateral) and affect one joint. The affected joint is typically tender and swollen. While the pain associated with Tietze syndrome usually subsides after several weeks or months, the swelling may persist.
Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000 newborn males worldwide. Between 400 and 600 boys in the United States are born with these conditions each year.
Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in several cellular processes, such as cell division and the self-destruction of cells that are no longer needed (apoptosis). This protein is critical during development before birth, particularly of the branchial arches, which form the structures of the face and neck. Most TFAP2A gene mutations that cause branchio-oculo-facial syndrome change single protein building blocks (amino acids) in the transcription factor AP-2 protein. These changes tend to occur in a region of the protein that allows it to bind to DNA. Without this function, transcription factor AP-2 cannot control the activity of genes during development, which disrupts the development of the eyes, ears, and face and causes the features of branchio-oculo-facial syndrome.
Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented. People with piebaldism usually have other unpigmented patches of skin, typically appearing symmetrically on both sides of the body. There may be spots or patches of pigmented skin within or around the borders of the unpigmented areas. In most cases, the unpigmented areas are present at birth and do not increase in size or number. The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure. Some people with piebaldism are self-conscious about the appearance of the unpigmented patches, which may be more noticeable in darker-skinned people. Aside from these potential issues, this condition has no effect on the health of the affected individual.
Most UTIs are caused by bacteria that live in the bowel, the part of the digestive tract where stool is changed from liquid to solid. The bacterium Escherichia coli (E. coli) causes most UTIs. The urinary tract has several systems to prevent infection. The points where the ureters attach to the bladder act like one-way valves to prevent urine from backing up, or refluxing, toward the kidneys, and urination washes microbes out of the body. The bodys natural defenses also prevent infection. But despite these safeguards, infections still occur. Other factors that may cause a child to get a UTI include the following: - Waiting to urinate. Regular urination helps flush away bacteria. Holding urine allows bacteria to grow. - Making too little urine. A child that doesnt drink enough fluids may not make enough urine to flush away bacteria. - Constipation. Constipation is a condition in which a child has fewer than two bowel movements a week. Stools can be hard, dry, small, and difficult to pass. The hard stool in the bowel may press against the urinary tract and block the flow of urine, allowing bacteria to grow. Some children are just more prone to UTIs than others, just as some children are more prone to getting coughs, colds, or ear infections.
What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medications, such as aspirin or ibuprofen, can help to relieve pain and reduce swelling. If the pain continues after these conservative treatments, your physician may refer you to an orthopaedic or hand surgeon for further evaluation.
Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Bjrnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty. People with Bjrnstad syndrome also have hearing problems that become evident in early childhood. The hearing loss, which is caused by changes in the inner ear (sensorineural deafness), can range from mild to severe. Mildly affected individuals may be unable to hear sounds at certain frequencies, while severely affected individuals may not be able to hear at all.
As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant pattern of inheritance. Autosomal recessive inheritance 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. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. In some cases of Robinow syndrome, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
The prevalence of this condition is unknown.
Loin pain hematuria syndrome (LPHS) is a condition that is characterized by persistent or recurrent loin pain and hematuria (blood in the urine). Other signs and symptoms include nausea and vomiting; a low-grade fever (up to 101F); and/or dysuria during episodes of pain. The exact underlying cause of LPHS is currently unknown; however, scientists suspect that it may be due to abnormalities of the glomerular basement membranes (the tissues in the kidney that filter blood); bleeding disorders; or crystal and/or stone formation in the kidneys. Treatment is symptomatic and usually consists of pain management.
What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communication by forming channels, or gap junctions, between cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin43 is found in many human tissues, including eyes, skin, bine, ears, heart, and brain. Mutations in the GJA1 gene that cause autosomal recessive craniometaphyseal dysplasia appear to disrupt bone remodeling. The exact mechanism involved is yet to be determined.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH), and through grants to major medical institutions across the country. Currently, NINDS researchers are studying the mechanisms of stroke risk factors and the process of brain damage that results from stroke. Basic research has also focused on the genetics of stroke and stroke risk factors. Scientists are working to develop new and better ways to help the brain repair itself to restore important functions. New advances in imaging and rehabilitation have shown that the brain can compensate for function lost as a result of stroke.
Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of a particular gene on chromosome 15, the STRC gene, is responsible for hearing loss in affected individuals. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for the sperm abnormalities and infertility in affected males. Researchers are working to determine how the loss of additional genes in the deleted region affects people with sensorineural deafness and male infertility.
Chronic fatigue syndrome (CFS) is a disorder that causes extreme fatigue. This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities. The main symptom of CFS is severe fatigue that lasts for 6 months or more. You also have at least four of these other symptoms: - Feeling unwell for more than 24 hours after physical activity - Muscle pain - Memory problems - Headaches - Pain in multiple joints - Sleep problems - Sore throat - Tender lymph nodes CFS is hard to diagnose. There are no tests for it, and other illnesses can cause similar symptoms. Your doctor has to rule out other diseases before making a diagnosis of CFS. No one knows what causes CFS. It is most common in women in their 40s and 50s, but anyone can have it. It can last for years. There is no cure for CFS, so the goal of treatment is to improve symptoms. Medicine may treat pain, sleep disorders, and other problems. Lifestyle changes, coping techniques, and a special, gradual exercise program can also help. Centers for Disease Control and Prevention
Scabies is an infestation of the skin by the human itch mite (Sarcoptes scabiei var. hominis). The microscopic scabies mite burrows into the upper layer of the skin where it lives and lays its eggs. The most common symptoms of scabies are intense itching and a pimple-like skin rash. The scabies mite usually is spread by direct, prolonged, skin-to-skin contact with a person who has scabies. Scabies is found worldwide and affects people of all races and social classes. Scabies can spread rapidly under crowded conditions where close body and skin contact is frequent. Institutions such as nursing homes, extended-care facilities, and prisons are often sites of scabies outbreaks. Child care facilities also are a common site of scabies infestations.
2-methylbutyryl-CoA dehydrogenase deficiency is a metabolic disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent. Signs and symptoms of the disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability.