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Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. People with CMAMMA can have a wide variety of symptoms. Children with CMAMMA can suffer from developmental delays and a failure to gain weight and grow (failure to thrive). In those who were identified as adults, symptoms may include psychiatric features and neurological problems that can mimic Alzheimer's disease and multiple sclerosis. Recently, researchers have found that mutations in the ACSF3 gene cause CMAMMA.
MFDM is a rare disorder; its exact prevalence is unknown. More than 60 affected individuals have been described in the medical literature.
The inheritance pattern of Tourette syndrome is unclear. Although the features of this condition can cluster in families, many genetic and environmental factors are likely to be involved. Among family members of an affected person, it is difficult to predict who else may be at risk of developing the condition. Tourette syndrome was previously thought to have an autosomal dominant pattern of inheritance, which suggests that one mutated copy of a gene in each cell would be sufficient to cause the condition. Several decades of research have shown that this is not the case. Almost all cases of Tourette syndrome probably result from a variety of genetic and environmental factors, not changes in a single gene.
The prevalence of deafness and myopia syndrome is unknown. Only a few affected families have been described in the medical literature.
D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations) in the D2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures.
These resources address the diagnosis or management of Hutchinson-Gilford progeria syndrome: - Gene Review: Gene Review: Hutchinson-Gilford Progeria Syndrome - Genetic Testing Registry: Hutchinson-Gilford syndrome - MedlinePlus Encyclopedia: Progeria 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
Being female can increase the risk of developing gallbladder 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 gallbladder cancer include the following: - Being female. - Being Native American.
Mannose-binding lectin deficiency is thought to affect approximately 5 to 10 percent of people worldwide; however, many affected individuals have no signs or symptoms related to low mannose-binding lectin levels. The condition is more common in certain populations, such as sub-Saharan Africans.
Mitral valve prolapse (MVP) affects people of all ages and both sexes; however, aging raises the risk of developing the disease. Certain conditions have been associated with MVP, including: A history of rheumatic fever Connective tissue disorders, such as Marfan syndrome or Ehlers-Danlos syndrome Graves disease Scoliosis and other skeletal problems Some types of muscular dystrophy
How might scleroderma be treated? Currently, there is not a cure for scleroderma, however treatments are available to relieve symptoms and limit damage. Treatment will vary depending on your symptoms.
What causes Lambert Eaton myasthenic syndrome? Lambert Eaton myasthenic syndrome is the result of an autoimmune process which causes a disruption of electrical impulses between nerve cells and muscle fibers. In cases where Lambert Eaton myasthenic syndrome appears in association with cancer, the cause may be that the bodys attempt to fight the cancer inadvertently causes it to attack nerve fiber endings, especially the voltage-gated calcium channels found there. The trigger for the cases not associated with cancer is unknown.
Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood. Mutations in the HPSE2 gene that cause Ochoa syndrome result in changes in the heparanase 2 protein that likely prevent it from functioning. The connection between HPSE2 gene mutations and the features of Ochoa syndrome are unclear. Because the areas of the brain that control facial expression and urination are in close proximity, some researchers have suggested that the genetic changes may lead to an abnormality in this brain region that may account for the symptoms of Ochoa syndrome. Other researchers believe that a defective heparanase 2 protein may lead to problems with the development of the urinary tract or with muscle function in the face and bladder. Some people with Ochoa syndrome do not have mutations in the HPSE2 gene. In these individuals, the cause of the disorder is unknown.
Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes mellitus. In about half of these babies, the diabetes is transient. Researchers estimate that approximately 70 percent of transient diabetes in newborns is caused by 6q24-related transient neonatal diabetes mellitus.
These resources address the diagnosis or management of myosin storage myopathy: - Genetic Testing Registry: Myosin storage myopathy 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
Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver. Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. Most cases are inherited in an autosomal dominant fashion. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD). In fact, about half of the people who have AD-PKD experience liver cysts. However, kidney cysts are uncommon in those affected by polycystic liver disease.
Mutations in the AAAS gene cause triple A syndrome. 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. Mutations in the AAAS gene change the structure of ALADIN in different ways; however, almost all mutations prevent this protein from reaching its proper location in the nuclear envelope. The absence of ALADIN in the nuclear envelope likely disrupts the movement of molecules across this membrane. 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. The genetic cause of the disorder is unknown in these individuals.
Summary : Menopause is the time in a woman's life when her period stops. It is a normal part of aging. In the years before and during menopause, the levels of female hormones can go up and down. This can cause symptoms such as hot flashes and vaginal dryness. Some women take hormone replacement therapy (HRT), also called menopausal hormone therapy, to relieve these symptoms. HRT may also protect against osteoporosis. However, HRT also has risks. It can increase your risk of breast cancer, heart disease, and stroke. Certain types of HRT have a higher risk, and each woman's own risks can vary depending upon her health history and lifestyle. You and your health care provider need to discuss the risks and benefits for you. If you do decide to take HRT, it should be the lowest dose that helps and for the shortest time needed. Taking hormones should be re-evaluated every six months. NIH: National Heart, Lung, and Blood Institute
Mutations in the ACVR1 gene cause fibrodysplasia ossificans progressiva. The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors. The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. It helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone (ossification) that occurs in normal skeletal maturation from birth to young adulthood. Researchers believe that a mutation in the ACVR1 gene may change the shape of the receptor under certain conditions and disrupt mechanisms that control the receptor's activity. As a result, the receptor may be constantly turned on (constitutive activation). Constitutive activation of the receptor causes overgrowth of bone and cartilage and fusion of joints, resulting in the signs and symptoms of fibrodysplasia ossificans progressiva.
Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter that disrupts carnitine's role in processing long-chain fatty acids. Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type happens in newborns. A milder, less common type happens in older infants and children.
Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the ACADS gene lead to a shortage (deficiency) of the SCAD enzyme within cells. Without sufficient amounts of this enzyme, short-chain fatty acids are not metabolized properly. As a result, these fats are not converted into energy, which can lead to the signs and symptoms of this disorder, such as lethargy, hypoglycemia, and muscle weakness. It remains unclear why some people with SCAD deficiency never develop any symptoms.
Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment may invovle use of antihistamines if symptoms do not go away on their own.
Researchers have not found a way to prevent kidney dysplasia caused by genetic factors or certain genetic syndromes. Pregnant women can prevent kidney dysplasia by avoiding the use of certain prescription medications or illegal drugs during pregnancy. Pregnant women should talk with their health care provider before taking any medications during pregnancy.
Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way. Treatment includes regular visits to the doctor to monitor growth and intellectual development, early intervention and special education programs, and special formula to help with feeding and nutrition.
You're working at your desk, trying to ignore the tingling or numbness you've had for some time in your hand and wrist. Suddenly, a sharp, piercing pain shoots through the wrist and up your arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones at the base of your hand. It contains nerve and tendons. Sometimes, thickening from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. Symptoms usually start gradually. As they worsen, grasping objects can become difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include performing assembly line work, wrist injury, or swelling due to certain diseases, such as rheumatoid arthritis. Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important to prevent permanent nerve damage. Your doctor diagnoses carpal tunnel syndrome with a physical exam and special nerve tests. Treatment includes resting your hand, splints, pain and anti-inflammatory medicines, and sometimes surgery. NIH: National Institute of Neurological Disorders and Stroke
Summary : Alcohol is the most widely abused substance among America's youth. Drinking by young people has big health and safety risks. It is dangerous because it - Causes many deaths and injuries - Can lead to poor decisions about engaging in risky behavior, such as drinking and driving or unprotected sex - Increases the risk of physical and sexual assault - Can lead to other problems, such as trouble in school - May interfere with brain development - Increases the risk of alcohol problems later in life Kids often begin drinking to look "cool" or fit in with their peers. Parents can help their kids avoid alcohol problems. Open communication and conversations about drinking are important. So is being involved in your child's life. Get help for your child if you suspect a drinking problem. NIH: National Institute on Alcohol Abuse and Alcoholism
Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 million individuals worldwide.
The long-term outlook for a child with kidney dysplasia in both kidneys is different from the long-term outlook for a child with one dysplastic kidney. A child with kidney dysplasia in both kidneys - is more likely to develop CKD. - needs close follow-up with a pediatric nephrologista doctor who specializes in caring for children with kidney disease. Children who live in areas that dont have a pediatric nephrologist available can see a nephrologist who cares for both children and adults. - may eventually need dialysis or a kidney transplant.
Adult polyglucosan body disease is a rare condition; although its exact prevalence is unknown, at least 50 affected individuals have been described in the medical literature.
People who have any signs or symptoms of severe dehydration should call or see a health care provider right away: - excessive thirst - dark-colored urine - infrequent urination - lethargy, dizziness, or faintness - dry skin Infants and children are most likely to become dehydrated. Parents or caretakers should watch for the following signs and symptoms of dehydration: - dry mouth and tongue - lack of tears when crying - infants with no wet diapers for 3 hours or more - infants with a sunken soft spot - unusually cranky or drowsy behavior - sunken eyes or cheeks - fever If left untreated, severe dehydration can cause serious health problems: - organ damage - shockwhen low blood pressure prevents blood and oxygen from getting to organs - comaa sleeplike state in which a person is not conscious
Kidney stones are caused by high levels of calcium, oxalate, and phosphorus in the urine. Some foods may cause kidney stones in certain people. You may be more likely to get a kidney stone if you have - a condition that affects levels of substances in your urine that can cause stones to form - a family history of kidney stones - repeating, or recurrent, urinary tract infections - blockage of your urinary tract - digestive problems You may also be more likely to get a kidney stone if you dont drink enough fluids or if you take certain medicines.
Mutations in the PCCA and PCCB genes cause propionic acidemia. The PCCA and PCCB genes provide instructions for making two parts (subunits) of an enzyme called propionyl-CoA carboxylase. This enzyme plays a role in the normal breakdown of proteins. Specifically, it helps process several amino acids, which are the building blocks of proteins. Propionyl-CoA carboxylase also helps break down certain types of fat and cholesterol in the body. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and prevent the normal breakdown of these molecules. As a result, a substance called propionyl-CoA and other potentially harmful compounds can build up to toxic levels in the body. This buildup damages the brain and nervous system, causing the serious health problems associated with propionic acidemia.
22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner, with about 70% genes of affected individuals inheriting the condition from a parent. In other cases it occurs as a de novo mutation (new genetic change) in an individual; however, individuals with a de novo mutation can can pass the duplication to their children. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition. Duplication is not detectable by karyotype and most of the people with 22q11.2 duplication syndrome are identified by a special technique known as chromosomal microarray. Treatment depends on the symptoms and includes an individualized educational program. Read more out chromosome 22.
What causes Tay-Sachs disease? Tay-Sachs disease is caused by mutations in the HEXA gene. The HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme is located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms seen in Tay-Sachs disease,
Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion.
8p11 myeloproliferative syndrome is caused by rearrangements of genetic material (translocations) between two chromosomes. All of the translocations that cause this condition involve the FGFR1 gene, which is found on the short (p) arm of chromosome 8 at a position described as p11. The translocations lead to fusion of part of the FGFR1 gene with part of another gene; the most common partner gene is ZMYM2 on chromosome 13. These genetic changes are found only in cancer cells. The protein normally produced from the FGFR1 gene can trigger a cascade of chemical reactions that instruct the cell to undergo certain changes, such as growing and dividing. This signaling is turned on when the FGFR1 protein interacts with growth factors. In contrast, when the FGFR1 gene is fused with another gene, FGFR1 signaling is turned on without the need for stimulation by growth factors. The uncontrolled signaling promotes continuous cell growth and division, leading to cancer. Researchers believe the mutations that cause this condition occur in a very early blood cell called a stem cell that has the ability to mature into either a myeloid cell or a lymphoid cell. For this reason, this condition is sometimes referred to as stem cell leukemia/lymphoma.
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills. Newborns with HID typically develop reddened skin. The skin abnormalities worsen over time, and the ichthyosis eventually covers most of the body, although the palms of the hands and soles of the feet are usually only mildly affected. Breaks in the skin may occur and in severe cases can lead to life-threatening infections. Affected individuals have an increased risk of developing a type of skin cancer called squamous cell carcinoma, which can also affect mucous membranes such as the inner lining of the mouth. People with HID may also have patchy hair loss caused by scarring on particular areas of skin.
Coats plus syndrome results from mutations in the CTC1 gene. This gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. Telomeres are short, repetitive segments of DNA that help protect chromosomes from abnormally sticking together or breaking down (degrading). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis). The CTC1 protein works as part of a group of proteins known as the CST complex, which is involved in the copying (replication) of telomeres. The CST complex helps prevent telomeres from being degraded in some cells as the cells divide. Mutations in the CTC1 gene impair the function of the CST complex, which affects the replication of telomeres. However, it is unclear how CTC1 gene mutations impact telomere structure and function. Some studies have found that people with CTC1 gene mutations have abnormally short telomeres, while other studies have found no change in telomere length. Researchers are working to determine how telomeres are different in people with CTC1 gene mutations and how these changes could underlie the varied signs and symptoms of Coats plus syndrome.
What causes 3-hydroxyisobutyric aciduria? In many affected people, the exact underlying cause of 3-hydroxyisobutyric aciduria is poorly understood. Scientists believe that some cases are caused by changes (mutations) in the ALDH6A1 gene. This gene encodes an enzyme called methylmalonate semialdehyde dehydrogenase, which helps the body break down certain amino acids (the building blocks of protein) found in food. If this gene isn't working properly, the body is unable to break down the amino acids valine and thymine which leads to a build-up of toxic substances in the body and the many signs and symptoms of 3-hydroxyisobutyric aciduria.
Research found that that prompt treatment of macular edema with anti-VEGF drugs, with or without laser treatment, resulted in better vision than laser treatment alone or steroid injections. When injected into the eye, these drugs reduce fluid leakage and interfere with the growth of new blood vessels in the retina. In some cases, focal laser treatment is used along with the eye injections. Your doctor places up to several hundred small laser burns in the areas of the retina around the macula that are leaking. These burns slow the leakage of fluid and reduce the amount of fluid in the retina. The surgery is usually completed in one session. Further treatment may be needed.
Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. Glutamate formiminotransferase deficiency is caused by mutations in the FTCD gene. It is inherited in an autosomal recessive pattern.
How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. The lesions usually are slightly elevated from the surrounding skin. Detailed information on histology of reticulohistiocytoma is available through DermNet NZ, an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. There are several differential diagnoses for RH. It is important to distinguish RH from Rosai-Dorfman disease, juvenile xanthogranuloma, a variety of granulomatous conditions, and some malignant neoplasms, including histiocytic sarcoma, melanoma, and epithelioid sarcoma. Reticulohistiocytoma should also be distinguished from multicentric reticulohistiocytosis.
These resources address the diagnosis or management of Wiskott-Aldrich syndrome: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Wiskott-Aldrich syndrome - MedlinePlus Encyclopedia: Thrombocytopenia - National Marrow Donor Program - Rare Disease Clinical Research Network: Primary Immune Deficiency Treatment Consortium 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
VLDLR-associated cerebellar hypoplasia is rare; its prevalence is unknown. The condition was first described in the Hutterite population in Canada and the United States. This condition has also been reported in families from Iran and Turkey.
Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.
- Erectile dysfunction (ED) is when you cannot get or keep an erection firm enough to have sex. You may have ED if you - can get an erection sometimes, though not every time - can get an erection, yet it does not last long enough for sex - are unable to get an erection at all - An erection occurs when blood flow into the penis increases, making the penis larger and firmer. Hormones, blood vessels, nerves, and muscles all work together to cause an erection. - ED often has more than one cause. Many diseases can damage nerves, arteries, and muscles. - To find the cause of your ED, your doctor may - take your medical and sexual history - ask you questions about your mental health - give you a physical exam - test your blood - give you a nighttime erection test - perform an injection test - perform a Doppler penile ultrasound - Your doctor can offer you a number of treatments for ED. For many men, the answer is as simple as taking a pill. Other men have to try two or three options before they find a treatment that works for them. - 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.
Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The exact cause of juvenile myoclonic epilepsy remains unknown, but genetics likely plays a role. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.
These resources address the diagnosis or management of congenital hyperinsulinism: - Gene Review: Gene Review: Familial Hyperinsulinism - Genetic Testing Registry: Exercise-induced hyperinsulinemic hypoglycemia - Genetic Testing Registry: Familial hyperinsulinism - Genetic Testing Registry: Hyperinsulinemic hypoglycemia familial 3 - Genetic Testing Registry: Hyperinsulinemic hypoglycemia familial 5 - Genetic Testing Registry: Hyperinsulinemic hypoglycemia, familial, 4 - Genetic Testing Registry: Hyperinsulinism-hyperammonemia syndrome - Genetic Testing Registry: Islet cell hyperplasia - Genetic Testing Registry: Persistent hyperinsulinemic hypoglycemia of infancy - MedlinePlus Encyclopedia: Neonatal Hypoglycemia - The Children's Hospital of Philadelphia: Congenital Hyperinsulinism Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Atherosclerosis is a disease in which plaque builds up inside your arteries. Plaque is a sticky substance made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens and narrows your arteries. That limits the flow of oxygen-rich blood to your body. Atherosclerosis can lead to serious problems, including - Coronary artery disease. These arteries supply blood to your heart. When they are blocked, you can suffer angina or a heart attack. - Carotid artery disease. These arteries supply blood to your brain. When they are blocked you can suffer a stroke. - Peripheral arterial disease. These arteries are in your arms, legs and pelvis. When they are blocked, you can suffer from numbness, pain and sometimes infections. Atherosclerosis usually doesn't cause symptoms until it severely narrows or totally blocks an artery. Many people don't know they have it until they have a medical emergency. A physical exam, imaging, and other diagnostic tests can tell if you have it. Medicines can slow the progress of plaque buildup. Your doctor may also recommend procedures such as angioplasty to open the arteries, or surgery on the coronary or carotid arteries. Lifestyle changes can also help. These include following a healthy diet, getting regular exercise, maintaining a healthy weight, quitting smoking, and managing stress. NIH: National Heart, Lung, and Blood Institute
These resources address the diagnosis or management of ALG6-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview 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
Warfarin sensitivity is a condition in which individuals have a low tolerance for the drug warfarin. Warfarin is an anticoagulant, which means that it thins the blood, preventing blood clots from forming. Warfarin is often prescribed to prevent blood clots in people with heart valve disease who have replacement heart valves, people with an irregular heart beat (atrial fibrillation), or those with a history of heart attack, stroke, or a prior blood clot in the deep veins of the arms or legs (deep vein thrombosis). Many people with warfarin sensitivity take longer than normal to break down (metabolize) warfarin, so the medication is in their body longer than usual and they require lower doses. These individuals are classified as "slow metabolizers" of warfarin. Other people with warfarin sensitivity do not need as much drug to prevent clots because their clot forming process is already slower than average and can be inhibited by low warfarin doses. If people with warfarin sensitivity take the average dose (or more) of warfarin, they are at risk of an overdose, which can cause abnormal bleeding in the brain, gastrointestinal tract, or other tissues, and may lead to serious health problems or death. Warfarin sensitivity does not appear to cause any health problems other than those associated with warfarin drug treatment.
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.
Essential pentosuria is caused by mutations in the DCXR gene. This gene provides instructions for making a protein called dicarbonyl/L-xylulose reductase (DCXR), which plays multiple roles in the body. One of its functions is to perform a chemical reaction that converts a sugar called L-xylulose to a molecule called xylitol. This reaction is one step in a process by which the body can use sugars for energy. DCXR gene mutations lead to the production of altered DCXR proteins that are quickly broken down. Without this protein, L-xylulose is not converted to xylitol, and the excess sugar is released in the urine. While essential pentosuria is caused by genetic mutations, some people develop a non-inherited form of pentosuria if they eat excessive amounts of fruits high in L-xylulose or another pentose called L-arabinose. This form of the condition, which disappears if the diet is changed, is referred to as alimentary pentosuria. Studies show that some drugs can also cause a form of temporary pentosuria called drug-induced pentosuria. These non-inherited forms of the condition also do not cause any health problems.
Treatment for dumping syndrome includes changes in eating, diet, and nutrition; medication; and, in some cases, surgery. Many people with dumping syndrome have mild symptoms that improve over time with simple dietary changes.
What are the signs and symptoms of schwannomas? Common signs and symptoms of schwannomas include a slow-growing mass and Tinel shock (electric-like shock when affected area is touched). Some people may experience numbness or other neurological symptoms depending on the size and location of the tumor.
How is limb-girdle muscular dystrophy inherited? Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner. There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families. Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition.
Most cases of 1p36 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. About 20 percent of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they 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. Individuals with 1p36 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 1, which results in birth defects and other health problems characteristic of this disorder.
How might mitochondrial genetic disorders be treated? Treatment for mitochondrial genetic disorders varies significantly based on the specific type of condition and the signs and symptoms present in each person. The primary aim of treatment is to alleviate symptoms and slow the progression of the condition. For example, a variety of vitamins and other supplements have been used to treat people affected by mitochondrial conditions with varying degrees of success. Other examples of possible interventions include medications to treat diabetes mellitus, surgery for cataracts, and cochlear implantation for hearing loss. For more general information about the treatment of mitochondrial genetic disorders, please visit GeneReviews.
Ichthyosis with confetti is a rare disorder. Fewer than 20 affected individuals have been described in the medical literature.
What are the signs and symptoms of Deafness and myopia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness and myopia 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) Autosomal recessive inheritance - Conductive hearing impairment - Hematuria - Intellectual disability - Myopia - Proteinuria - Severe Myopia - 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 for COPD can be different for each person and is based on whether symptoms are mild, moderate or severe. Treatments include medication, pulmonary or lung rehabilitation, oxygen treatment, and surgery. There are also treatments to manage complications or a sudden onset of symptoms.
These resources address the diagnosis or management of Ellis-van Creveld syndrome: - Genetic Testing Registry: Chondroectodermal dysplasia - MedlinePlus Encyclopedia: Congenital Heart Disease - MedlinePlus Encyclopedia: Ellis-van Creveld Syndrome - MedlinePlus Encyclopedia: Polydactyly 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
Infants who are born earlyusually more than 10 weeks before their due datesand still need oxygen therapy by the time they reach their original due dates are diagnosed with bronchopulmonary dysplasia (BPD). BPD can be mild, moderate, or severe. The diagnosis depends on how much extra oxygen a baby needs at the time of his or her original due date. It also depends on how long the baby needs oxygen therapy. To help confirm a diagnosis of BPD, doctors may recommend tests, such as: Chest x ray. A chest x ray takes pictures of the structures inside the chest, such as the heart and lungs. In severe cases of BPD, this test may show large areas of air and signs of inflammation or infection in the lungs. A chest x ray also can detect problems (such as a collapsed lung) and show whether the lungs aren't developing normally. Blood tests. Blood tests are used to see whether an infant has enough oxygen in his or her blood. Blood tests also can help determine whether an infection is causing an infant's breathing problems. Echocardiography. This test uses sound waves to create a moving picture of the heart. Echocardiography is used to rule out heart defects or pulmonary hypertension as the cause of an infant's breathing problems
What causes Tourette syndrome? Although the cause of Tourette syndrome is unknown, current research points to abnormalities in certain brain regions (including the basal ganglia, frontal lobes, and cortex), the circuits that interconnect these regions, and the neurotransmitters (dopamine, serotonin, and norepinephrine) responsible for communication among nerve cells. Given the often complex presentation of Tourette syndrome, the cause of the disorder is likely to be equally complex. In many cases, there is a family history of tics, Tourette Syndrome, ADHD, OCD. In 2005, scientists discovered the first gene mutation that may cause some cases of Tourette syndrome. This gene, named SLITRK1, is normally involved with the growth of nerve cells and how they connect with other neurons. The mutated gene is located in regions of the brain (basal ganglia, cortex, and frontal lobes) previously identified as being associated with Tourette syndrome.
Summary : Pets can add fun, companionship and a feeling of safety to your life. Before getting a pet, think carefully about which animal is best for your family. What is each family member looking for in a pet? Who will take care of it? Does anyone have pet allergies? What type of animal suits your lifestyle and budget? Once you own a pet, keep it healthy. Know the signs of medical problems. Take your pet to the veterinarian if you notice: - Loss of appetite - Drinking a lot of water - Gaining or losing a lot of weight quickly - Strange behavior - Being sluggish and tired - Trouble getting up or down - Strange lumps
Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. There is currently no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy.
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the way signals are passed between certain cells in the nervous system. Signs and symptoms of AADC deficiency generally appear in the first year of life. Affected infants may have severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). They may be lacking in energy (lethargic), feed poorly, startle easily, and have sleep disturbances. People with AADC deficiency may also experience episodes called oculogyric crises that involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. AADC deficiency may affect the autonomic nervous system, which controls involuntary body processes such as the regulation of blood pressure and body temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), backflow of acidic stomach contents into the esophagus (gastroesophageal reflux), low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest. Signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep.
What are the signs and symptoms of Congenital dyserythropoietic anemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital dyserythropoietic anemia type 3. 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 hypoplastic anemia - Hemosiderinuria - Jaundice - Macrocytic anemia - 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.
Is afibrinogenemia an inherited condition? Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent. The offspring of an individual with afibrinogenemia are obligate heterozygotes (carriers) for a disease-causing mutation in one of the fibrinogen genes. In order to be affected, these children would also have to inherit a mutated gene from their other parent.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The number and size of lymph nodes that have cancer in them. - Whether the cancer has responded to treatment or has recurred (come back). - How different from normal the cancer cells look under a microscope. - The patient's age and general health. Treatment options also depend on the following: - Which part of the neck the cancer is in. - Whether certain tumor markers are found.
The NINDS conducts and supports research on TSEs. This research is aimed at determining how abnormal prion proteins lead to disease, at finding better tests for diagnosing CJD and other disorders, and ultimately at finding ways to treat TSEs.
Emanuel syndrome is a rare disorder; its prevalence is unknown. More than 100 individuals with this condition have been reported.
Corticobasal degeneration usually progresses slowly over the course of 6 to 8 years. Death is generally caused by pneumonia or other complications of severe debility such as sepsis or pulmonary embolism.
Treatment of atypical chronic myelogenous leukemia (CML) may include chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with atypical chronic myeloid leukemia, BCR-ABL1 negative. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
MEGDEL syndrome is caused by mutations in the SERAC1 gene. The function of the protein produced from this gene is not completely understood, although research suggests that it is involved in altering (remodeling) certain fats called phospholipids, particularly a phospholipid known as phosphatidylglycerol. Another phospholipid called cardiolipin is made from phosphatidylglycerol. Cardiolipin is a component of the membrane that surrounds cellular structures called mitochondria, which convert the energy from food into a form that cells can use, and is important for the proper functioning of these structures. SERAC1 gene mutations involved in MEGDEL syndrome lead to little or no SERAC1 protein function. As a result, phosphatidylglycerol remodeling is impaired, which likely alters the composition of cardiolipin. Researchers speculate that the abnormal cardiolipin affects mitochondrial function, reducing cellular energy production and leading to the neurological and hearing problems characteristic of MEGDEL syndrome. It is unclear how SERAC1 gene mutations lead to abnormal release of 3-methylglutaconic acid in the urine, although it is thought to be related to mitochondrial dysfunction.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Rasmussens encephalitis in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure progressive neurological disorders, such as Rasmussens encephalitis.
Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.
The incidence of ARSACS in the Charlevoix-Saguenay region of Quebec is estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, ARSACS is rare, but the incidence is unknown.
Many different problems can cause urgency, frequency, and bladder pain. Just a few of them are - infections - bowel disorders - endometriosistissue that normally lines the womb that appears in other places outside of the womb - bladder cancer Your doctor will ask you questions and run tests to find the cause of your bladder problems. Usually, the doctor will find that you have either an infection or an overactive bladder. But urgency, frequency, and pain are not always caused by infection. Sometimes the cause is hard to find. If all the test results are normal and all other diseases are ruled out, your doctor may find that you have IC/PBS.
NASH is usually first suspected in a person who is found to have elevations in liver tests that are included in routine blood test panels, such as alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease (such as medications, viral hepatitis, or excessive use of alcohol) and when x rays or imaging studies of the liver show fat, NASH is suspected. The only means of proving a diagnosis of NASH and separating it from simple fatty liver is a liver biopsy. For a liver biopsy, a needle is inserted through the skin to remove a small piece of the liver. NASH is diagnosed when examination of the tissue with a microscope shows fat along with inflammation and damage to liver cells. If the tissue shows fat without inflammation and damage, simple fatty liver or NAFLD is diagnosed. An important piece of information learned from the biopsy is whether scar tissue has developed in the liver. Currently, no blood tests or scans can reliably provide this information.
Menkes syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is 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 would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In about one-third of cases, Menkes syndrome is caused by new mutations in the ATP7A gene. People with a new mutation do not have a history of the disorder in their family.
As its name suggests, this condition is inherited in an autosomal recessive pattern. 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.
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy. Affected infants typically have severe brain dysfunction (encephalopathy), which can contribute to weak muscle tone (hypotonia), seizures, and delayed development of mental and movement abilities (psychomotor delay). These infants often have difficulty growing and gaining weight at the expected rate (failure to thrive). Most affected babies have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can be life-threatening. They may also have high levels of a molecule called glycine (hyperglycinemia) or elevated levels of sugar (hyperglycemia) in the blood. Some babies with multiple mitochondrial dysfunctions syndrome have high blood pressure in the blood vessels that connect to the lungs (pulmonary hypertension) or weakening of the heart muscle (cardiomyopathy).
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.
Impetigo is a skin infection caused by bacteria. It is usually caused by staphylococcal (staph) bacteria, but it can also be caused by streptococcal (strep) bacteria. It is most common in children between the ages of two and six. It usually starts when bacteria get into a break in the skin, such as a cut, scratch, or insect bite. Symptoms start with red or pimple-like sores surrounded by red skin. These sores can be anywhere, but usually they occur on your face, arms and legs. The sores fill with pus, then break open after a few days and form a thick crust. They are often itchy, but scratching them can spread the sores. Impetigo can spread by contact with sores or nasal discharge from an infected person. You can treat impetigo with antibiotics. NIH: National Institute of Allergy and Infectious Diseases
Hyperparathyroidism is an endocrine disorder in which the parathyroid glands in the neck produce too much parathyroid hormone (PTH). Signs and symptoms are often mild and nonspecific, such as a feeling of weakness and fatigue, depression, or aches and pains. With more severe disease, a person may have a loss of appetite, nausea, vomiting, constipation, confusion or impaired thinking and memory, and increased thirst and urination. Patients may have thinning of the bones without symptoms, but with risk of fractures. There are two main types of hyperparathyroidism: primary hyperparathyroidism and secondary hyperparathyroidism. Surgery to remove the parathyroid gland(s) is the main treatment for the disorder. Some patients with mild disease do not require treatment.
How is Tietze syndrome diagnosed? Tietze syndrome is a diagnosis of exclusion. This means that a diagnosis is made in people with chest pain and swelling of the cartilage that joins the upper ribs to the breastbone (costochondral junction) after other conditions with similar signs and symptoms have been ruled out. A thorough physical exam and various tests (i.e. electrocardiogram, x-ray, CT scan) may be necessary to exclude other conditions.
POMC deficiency 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 this condition each carry one copy of the mutated gene. They typically do not have POMC deficiency, but they may have an increased risk of obesity.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
What are the signs and symptoms of Normophosphatemic familial tumoral calcinosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Normophosphatemic familial tumoral calcinosis. 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 recessive inheritance - Calcinosis - Conjunctivitis - Gingivitis - 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.
Is Townes-Brocks syndrome genetic? Yes. Townes-Brocks syndrome is inherited in an autosomal dominant fashion, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about 50% of cases, an affected person inherits the mutation from an affected parent. The other 50% have the condition as a result of a new (de novo) mutation.
DDON syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is 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 would have to occur in both copies of the gene to cause DDON syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the TIMM8A gene are typically unaffected; however, they may develop mild hearing loss and dystonia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
The National Institute of Neurological Disorders and Stroke (NINDS), a component of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nations primary funding source for research on the brain and nervous system. The NINDS conducts research on stroke and vascular lesions of the nervous system and supports studies through grants to medical institutions across the country.
Familial erythrocytosis can have different inheritance patterns depending on the gene involved. When the condition is caused by mutations in the EPOR, EGLN1, or EPAS1 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most affected individuals inherit the altered gene from one affected parent. When familial erythrocytosis is caused by mutations in the VHL gene, it has an autosomal recessive 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.
These resources address the diagnosis or management of familial hyperaldosteronism: - Genetic Testing Registry: Familial hyperaldosteronism type 1 - Genetic Testing Registry: Familial hyperaldosteronism type 3 - Hormone Health Network: A Patient's Guide: Primary Hyperaldosteronism - International Registry for Glucocorticoid-Remediable Aldosteronism - MedlinePlus Encyclopedia: Aldosterone 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
Is genetic testing available for mulibrey nanism? Testing for the TRIM37 gene is available for carrier testing, confirming the diagnosis, and prenatal diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for mulibrey nanism. To view the contact information for the clinical laboratories conducting testing, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
In most cases, myasthenia gravis is not inherited and occurs in people with no history of the disorder in their family. About 3 to 5 percent of affected individuals have other family members with myasthenia gravis or other autoimmune disorders, but the inheritance pattern is unknown.
These resources address the diagnosis or management of cardiofaciocutaneous syndrome: - Gene Review: Gene Review: Cardiofaciocutaneous Syndrome - Genetic Testing Registry: Cardiofaciocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.