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GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.
The best way to avoid hookworm infection is not to walk barefoot in areas where hookworm is common and where there may be human fecal contamination of the soil. Also, avoid other skin contact with such soil and avoid ingesting it. Infection can also be prevented by not defecating outdoors and by effective sewage disposal systems.
Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement component 2 deficiency have a significantly increased risk of recurrent bacterial infections, specifically of the lungs (pneumonia), the membrane covering the brain and spinal cord (meningitis), and the blood (sepsis), which may be life-threatening. These infections most commonly occur in infancy and childhood and become less frequent in adolescence and adulthood. Complement component 2 deficiency is also associated with an increased risk of developing autoimmune disorders such as systemic lupus erythematosus (SLE) or vasculitis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. Between 10 and 20 percent of individuals with complement component 2 deficiency develop SLE. Females with complement component 2 deficiency are more likely to have SLE than affected males, but this is also true of SLE in the general population. The severity of complement component 2 deficiency varies widely. While some affected individuals experience recurrent infections and other immune system difficulties, others do not have any health problems related to the disorder.
Can harlequin ichthyosis be diagnosed before birth using amniocentesis or chorionic villus sampling? Yes, harlequin ichthyosis can be diagnosed before birth using either amniocentesis or chorionic villus sampling. Both of these procedures are used to obtain a sample of fetal DNA, which can be tested for mutations in the ABCA12 gene. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a specific genetic test should contact a health care provider or a genetics professional.
The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent developmental brain disorders, including hydranencephaly.
What causes cleidocranial dysplasia? Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the development of cells that build bones (osteoblasts). Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations result in an abnormally short protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes located near RUNX2. In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown. Read more about the RUNX2 gene.
How is protein C deficiency inherited? Hereditary protein C deficiency is inherited in an autosomal dominant manner. This means that having only one mutated copy of the responsible gene in each cell is enough to cause mild protein C deficiency. A mutated copy of the gene can be inherited from a person's mother or father. People who inherit two mutated copies of the gene have severe protein C deficiency.
Summary : Hospice care is end-of-life care. A team of health care professionals and volunteers provides it. They give medical, psychological, and spiritual support. The goal of the care is to help people who are dying have peace, comfort, and dignity. The caregivers try to control pain and other symptoms so a person can remain as alert and comfortable as possible. Hospice programs also provide services to support a patient's family. Usually, a hospice patient is expected to live 6 months or less. Hospice care can take place - At home - At a hospice center - In a hospital - In a skilled nursing facility NIH: National Cancer Institute
The signs and symptoms of type 2 diabetes can be so mild that you might not even notice them. Nearly 7 million people in the United States have type 2 diabetes and dont know they have the disease. Many have no signs or symptoms. Some people have symptoms but do not suspect diabetes. Symptoms include - increased thirst - increased hunger - fatigue - increased urination, especially at night - unexplained weight loss - blurred vision - numbness or tingling in the feet or hands - sores that do not heal Many people do not find out they have the disease until they have diabetes problems, such as blurred vision or heart trouble. If you find out early that you have diabetes, you can get treatment to prevent damage to your body.
Diastrophic dysplasia is one of several skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of diastrophic dysplasia.
- Nonalcoholic steatohepatitis (NASH) is fat in the liver, with inflammation and damage. - NASH occurs in people who drink little or no alcohol and affects 2 to 5 percent of Americans, especially people who are middle-aged and overweight or obese. - NASH can occur in children. - People who have NASH may feel well and may not know that they have a liver disease. - NASH can lead to cirrhosis, a condition in which the liver is permanently damaged and cannot work properly. - Fatigue can occur at any stage of NASH. - Weight loss and weakness may begin once the disease is advanced or cirrhosis is present. - NASH may be suspected if blood tests show high levels of liver enzymes or if scans show fatty liver. - NASH is diagnosed by examining a small piece of the liver taken through a needle, a procedure called biopsy. - People who have NASH should reduce their weight, eat a balanced diet, engage in physical activity, and avoid alcohol and unnecessary medications. - No specific therapies for NASH exist. Experimental therapies being studied include antioxidants and antidiabetes medications.
These resources address the diagnosis or management of retinoblastoma: - Gene Review: Gene Review: Retinoblastoma - Genetic Testing Registry: Retinoblastoma - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Retinoblastoma - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes 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 older and having fair skin may increase the risk of intraocular melanoma. Anything that increases your risk 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 doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for intraocular melanoma include the following: - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Older age. - Being white.
As its name suggests, CHST3-related skeletal dysplasia results from mutations in the CHST3 gene. This gene provides instructions for making an enzyme called C6ST-1, which is essential for the normal development of cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Mutations in the CHST3 gene reduce or eliminate the activity of the C6ST-1 enzyme. A shortage of this enzyme disrupts the normal development of cartilage and bone, resulting in the abnormalities associated with CHST3-related skeletal dysplasia.
It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis.
Is adolescent idiopathic scoliosis inherited? Adolescent idiopathic scoliosis can be sporadic, which means it occurs in people without a family history of the condition, or it can cluster in families. The inheritance pattern of adolescent idiopathic scoliosis is unclear because many genetic and environmental factors appear to be involved. We do know, however, that having a close relative (such as a parent or sibling) with the condition increases a child's risk of developing it.
There is no cure for Klver-Bucy syndrome. The disorder is not life-threatening, but the patient can be difficult to manage. With treatment, symptoms may slowly decline.
Summary : You may need an organ transplant if one of your organs has failed. This can happen because of illness or injury. When you have an organ transplant, doctors remove an organ from another person and place it in your body. The organ may come from a living donor or a donor who has died. The organs that can be transplanted include - Heart - Intestine - Kidney - Liver - Lung - Pancreas You often have to wait a long time for an organ transplant. Doctors must match donors to recipients to reduce the risk of transplant rejection. Rejection happens when your immune system attacks the new organ. If you have a transplant, you must take drugs the rest of your life to help keep your body from rejecting the new organ.
The Food and Drug Administration has approved several medications that can stop or slow down the progression of the disease and reduce pain and other symptoms. These medications fall into two categories: bisphosphonates and calcitonin. Doctors most often prescribe one of the four strongest bisphosphonates, which are risedronate, alendronate, pamidronate, and zoledronic acid.
Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy). It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive manner. AS is associated with a shortened life expectancy, but affected individuals typically live into adulthood.
These resources address the diagnosis or management of oculodentodigital dysplasia: - Genetic Testing Registry: Oculodentodigital dysplasia - MedlinePlus Encyclopedia: Webbing of the fingers or toes - UC Davis Children's Hospital: Cleft and Craniofacial Reconstruction 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
Both types of myotonic dystrophy are 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. As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. This phenomenon, called anticipation, has been reported with both types of myotonic dystrophy. However, the evidence for anticipation appears to be strongest in myotonic dystrophy type 1. In this form of the disorder, anticipation is caused by an increase in the length of the unstable region in the DMPK gene. It is less clear whether anticipation occurs in myotonic dystrophy type 2, and the mechanism is unknown. A longer unstable region in the CNBP gene does not appear to influence the age of onset of the disorder.
Most people feel sad or irritable from time to time. They may say they're in a bad mood. A mood disorder is different. It affects a person's everyday emotional state. Nearly one in ten people aged 18 and older have mood disorders. These include depression and bipolar disorder (also called manic depression). Mood disorders can increase a person's risk for heart disease, diabetes, and other diseases. Treatments include medication, psychotherapy, or a combination of both. With treatment, most people with mood disorders can lead productive lives.
In acute neuropathies, such as Guillain-Barr syndrome, symptoms appear suddenly, progress rapidly, and resolve slowly as damaged nerves heal. In chronic forms, symptoms begin subtly and progress slowly. Some people may have periods of relief followed by relapse. Others may reach a plateau stage where symptoms stay the same for many months or years. Some chronic neuropathies worsen over time, but very few forms prove fatal unless complicated by other diseases. Occasionally the neuropathy is a symptom of another disorder.
The incidence of severe congenital neutropenia is estimated to be 1 in 200,000 individuals.
These resources address the diagnosis or management of Parkes Weber syndrome: - Gene Review: Gene Review: RASA1-Related Disorders - Genetic Testing Registry: Parkes Weber 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
Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and scarring make it hard to get enough oxygen. The scarring is called pulmonary fibrosis. Breathing in dust or other particles in the air is responsible for some types of interstitial lung diseases. Specific types include - Black lung disease among coal miners, from inhaling coal dust - Farmer's lung, from inhaling farm dust - Asbestosis, from inhaling asbestos fibers - Siderosis, from inhaling iron from mines or welding fumes - Silicosis, from inhaling silica dust Other causes include autoimmune diseases or occupational exposures to molds, gases, or fumes. Some types of interstitial lung disease have no known cause. Treatment depends on the type of exposure and the stage of the disease. It may involve medicines, oxygen therapy, or a lung transplant in severe cases.
These resources address the diagnosis or management of uromodulin-associated kidney disease: - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related (ADTKD-UMOD) - Genetic Testing Registry: Familial juvenile gout - Genetic Testing Registry: Glomerulocystic kidney disease with hyperuricemia and isosthenuria - Genetic Testing Registry: Medullary cystic kidney disease 2 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
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern. Some cases are caused by a new mutation in the gene. A small number of cases follow an autosomal recessive pattern of inheritance. Management is multidisciplinary and based on specific symptoms. Early diagnosis is critical for prevention and treatment.
Having hepatitis or cirrhosis can increase the risk of developing liver cancer. Anything that increases the 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. People who think they may be at risk should discuss this with their doctor. Risk factors for liver cancer include: - Having hepatitis B or hepatitis C; having both hepatitis B and hepatitis C increases the risk even more. - Having cirrhosis, which can be caused by: - hepatitis (especially hepatitis C); or - drinking large amounts of alcohol for many years or being an alcoholic. - Eating foods tainted with aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts, that have not been stored properly).
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.
Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems.
There is no known cure for PDD. Medications are used to address specific behavioral problems; therapy for children with PDD should be specialized according to need. Some children with PDD benefit from specialized classrooms in which the class size is small and instruction is given on a one-to-one basis. Others function well in standard special education classes or regular classes with additional support.
Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is present at birth or becomes apparent in infancy. Although its signs and symptoms vary, the condition is characterized by two major features. The first is areas of hyperkeratosis, which is rough, thickened skin. These thickened patches are usually reddish-brown and can either be widespread over many parts of the body or occur only in a small area. They tend to be fixed, meaning they do not spread or go away. However, the patches can vary in size and shape, and in some affected people they get larger over time. The areas of thickened skin are generally symmetric, which means they occur in the same places on the right and left sides of the body. The second major feature of EKVP is patches of reddened skin called erythematous areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous areas are usually transient, which means they come and go. They vary in size, shape, and location, and can occur anywhere on the body. The redness can be triggered by sudden changes in temperature, emotional stress, or trauma or irritation to the area. It usually fades within hours to days.
Bronchitis is a very common condition. Millions of cases occur every year. Elderly people, infants, and young children are at higher risk for acute bronchitis than people in other age groups. People of all ages can develop chronic bronchitis, but it occurs more often in people who are older than 45. Also, many adults who develop chronic bronchitis are smokers. Women are more than twice as likely as men to be diagnosed with chronic bronchitis. Smoking and having an existing lung disease greatly increase your risk for bronchitis. Contact with dust, chemical fumes, and vapors from certain jobs also increases your risk for the condition. Examples include jobs in coal mining, textile manufacturing, grain handling, and livestock farming. Air pollution, infections, and allergies can worsen the symptoms of chronic bronchitis, especially if you smoke.
Summary : If you are trying to have a baby or are just thinking about it, it is not too early to prepare for a safe pregnancy and a healthy baby. You should speak with your healthcare provider about preconception care. Preconception care is care you receive before you get pregnant. It involves finding and taking care of any problems that might affect you and your baby later, like diabetes or high blood pressure. It also involves steps you can take to reduce the risk of birth defects and other problems. For example, you should take folic acid supplements to prevent neural tube defects. By taking action on health issues before pregnancy, you can prevent many future problems for yourself and your baby. Once you're pregnant, you'll get prenatal care until your baby is born. National Center for Birth Defects and Developmental Disabilities
The most common causes of taste disorders are medications, infections, head trauma, and dental problems. Most people who have a problem with taste are taking certain medications or they have had a head or neck injury. Gum disease, dry mouth, and dentures can contribute to taste problems, too. Other causes are radiation therapy for head and neck cancers, smoking, and some surgeries.
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.
Your legs are made up of bones, blood vessels, muscles, and other connective tissue. They are important for motion and standing. Playing sports, running, falling, or having an accident can damage your legs. Common leg injuries include sprains and strains, joint dislocations, and fractures. These injuries can affect the entire leg, or just the foot, ankle, knee, or hip. Certain diseases also lead to leg problems. For example, knee osteoarthritis, common in older people, can cause pain and limited motion. Problems in your veins in your legs can lead to varicose veins or deep vein thrombosis.
People with Alzheimer's disease, those with mild cognitive impairment, those with a family history of Alzheimers, and healthy people with no memory problems who want to help scientists test new treatments may be able to take part in clinical trials. Participants in clinical trials help scientists learn about the brain in healthy aging as well as what happens in Alzheimers. Results of these trials are used to improve prevention and treatment methods. To find out more about Alzheimers clinical trials, talk to your health care provider or contact the Alzheimers Disease Education and Referral (ADEAR) Center at 1-800-438-4380. You can search for studies about a certain topic or in a certain geographic area by going to www.nia.nih.gov/alzheimers/clinical-trials.
Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax. Treatment is with hormones and surgery.
Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, affected infants have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. Additional common features of CDPX1 are shortened fingers and a flat nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. CDPX1 is caused by changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males. Most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening.
Both the male and female reproductive systems play a role in pregnancy. Problems with these systems can affect fertility and the ability to have children. Something that affects reproductive health is called a reproductive hazard. Examples include: - Radiation - Metals such as lead and mercury - Chemicals such as pesticides - Cigarettes - Some viruses - Alcohol For men, a reproductive hazard can affect the sperm. For a woman, a reproductive hazard can cause different effects during pregnancy, depending on when she is exposed. During the first 3 months of pregnancy, it might cause a birth defect or a miscarriage. During the last 6 months of pregnancy, it could slow the growth of the fetus, affect the development of its brain, or cause premature labor.
If I find that I am not a carrier for cherubism can I still have children with the disease? Yes. Again, only 80 percent of people with cherubism have an identifiable mutation in the SH3BP2 gene. In the remaining cases, the cause is genetic, but unknown. Individuals who do not have an identifiable genetic cause can still have children with cherubism.
The risk factors for neuroblastoma are not known.
Summary : X-rays are a type of radiation called electromagnetic waves. X-ray imaging creates pictures of the inside of your body. The images show the parts of your body in different shades of black and white. This is because different tissues absorb different amounts of radiation. Calcium in bones absorbs x-rays the most, so bones look white. Fat and other soft tissues absorb less, and look gray. Air absorbs the least, so lungs look black. The most familiar use of x-rays is checking for broken bones, but x-rays are also used in other ways. For example, chest x-rays can spot pneumonia. Mammograms use x-rays to look for breast cancer. When you have an x-ray, you may wear a lead apron to protect certain parts of your body. The amount of radiation you get from an x-ray is small. For example, a chest x-ray gives out a radiation dose similar to the amount of radiation you're naturally exposed to from the environment over 10 days.
There are many signs that can signal vision loss. For example, even with your regular glasses, do you have difficulty - recognizing faces of friends and relatives? - doing things that require you to see well up close, such as reading, cooking, sewing, fixing things around the house, or picking out and matching the color of your clothes? - doing things at work or home because lights seem dimmer than they used to? - reading street and bus signs or the names of stores? recognizing faces of friends and relatives? doing things that require you to see well up close, such as reading, cooking, sewing, fixing things around the house, or picking out and matching the color of your clothes? doing things at work or home because lights seem dimmer than they used to? reading street and bus signs or the names of stores? Early Diagnosis Is Important Vision changes like these could be early warning signs of eye disease. People over age 60 should have an eye exam through dilated pupils at least once a year. Usually, the earlier your problem is diagnosed, the better your chances of undergoing successful treatment and keeping your remaining vision. Regular dilated eye exams should be part of your routine health care. However, if you think your vision has recently changed, you should see your eye care professional as soon as possible.
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
People with HD have constipation because they lack nerve cells in a part or all of the large intestine. The nerve cells signal muscles in the large intestine to push stool toward the anus. Without a signal to push stool along, stool will remain in the large intestine. How severe HD is depends on how much of the large intestine is affected. Short-segment HD means only the last part of the large intestine lacks nerve cells. Long-segment HD means most or all of the large intestine, and sometimes the last part of the small intestine, lacks nerve cells. In a person with HD, stool moves through the large intestine until it reaches the part lacking nerve cells. At that point, the stool moves slowly or stops, causing an intestinal obstruction.
Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction; failure to to thrive; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual.
Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 14q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 14q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 14. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.
SUNCT-Short-lasting, Unilateral, Neuralgiform headache attacks with Conjunctival injection and Tearing-is a rare form of headache that is most common in men after age 50. The disorder is marked by bursts of moderate to severe burning, piercing, or throbbing pain, usually on one side of the head and around the eye or temple. The pain usually peaks within seconds of onset and may follow a pattern of increasing and decreasing intensity. Attacks typically occur in daytime hours and last from 5 seconds to 4 minutes per episode. Individuals generally have five to six attacks per hour. Autonomic nervous system responses include watery eyes, reddish or bloodshot eyes caused by dilation of blood vessels (conjunctival injection), nasal congestion, runny nose, sweaty forehead, swelling of the eyelids, and increased pressure within the eye on the affected side of head. Systolic blood pressure may rise during the attacks. Movement of the neck may trigger these headaches. SUNCT may be a form of trigeminal neuralgia and is considered one of the trigeminal autonomic cephalgias, or TACs.
The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people worldwide. However, researchers suspect that the condition is underdiagnosed, and so it may actually be more common than this. Heterotaxy syndrome accounts for approximately 3 percent of all congenital heart defects. For reasons that are unknown, the condition appears to be more common in Asian populations than in North America and Europe. Recent studies report that in the United States, the condition occurs more frequently in children born to black or Hispanic mothers than in children born to white mothers.
What are the signs and symptoms of Keratosis palmoplantaris striata 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris striata 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperhidrosis 5% Autosomal dominant inheritance - Palmoplantar keratoderma - Streaks of hyperkeratosis along each finger onto the palm - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Renal artery stenosis (RAS) is the narrowing of one or both renal arteries. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body. - Renovascular hypertension (RVH) is high blood pressure caused by RAS. - About 90 percent of RAS is caused by atherosclerosis. Most other cases of RAS are caused by fibromuscular dysplasia (FMD), which can cause blood vessels to narrow. - RAS often has no symptoms until it becomes severe. The first symptoms of RAS are usually either high blood pressure or decreased kidney function, or both, but RAS is often overlooked as a cause of high blood pressure. - People with RAS are at increased risk for chronic kidney disease (CKD), coronary artery disease, stroke, and peripheral vascular disease. - Imaging tests used to diagnose RAS include duplex ultrasound, catheter angiogram, computerized tomographic angiography (CTA) scan, and magnetic resonance angiogram (MRA). - Treatment for RAS includes lifestyle changes, medications, and surgery.
These resources address the diagnosis or management of lactose intolerance: - Genetic Testing Registry: Congenital lactase deficiency - Genetic Testing Registry: Nonpersistence of intestinal lactase - MedlinePlus Encyclopedia: Lactose Intolerance - MedlinePlus Encyclopedia: Lactose Tolerance Tests 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.
These resources address the diagnosis or management of familial dysautonomia: - Gene Review: Gene Review: Familial Dysautonomia - Genetic Testing Registry: Familial dysautonomia - MedlinePlus Encyclopedia: Riley-Day 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
Mutations in the GAMT gene cause guanidinoacetate methyltransferase deficiency. The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, guanidinoacetate methyltransferase controls the second step of this process. In this step, creatine is produced from another compound called guanidinoacetate. Creatine is needed for the body to store and use energy properly. GAMT gene mutations impair the ability of the guanidinoacetate methyltransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of guanidinoacetate methyltransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.
Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million newborns worldwide.
These resources address the diagnosis or management of fatty acid hydroxylase-associated neurodegeneration: - Gene Review: Gene Review: Fatty Acid Hydroxylase-Associated Neurodegeneration - Genetic Testing Registry: Spastic paraplegia 35 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 Norum disease inherited? Norum disease is transmitted as an autosomal recessive trait, 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. Sporadic cases have also been reported.
- Ulcerative colitis is a chronic, or long lasting, disease that causes inflammationirritation or swellingand sores called ulcers on the inner lining of the large intestine. - The exact cause of ulcerative colitis is unknown. Researchers believe that factors such as an overactive intestinal immune system, genes, and environment may play a role in causing ulcerative colitis. - Ulcerative colitis can occur in people of any age. However, it is more likely to develop in people - between the ages of 15 and 30 - older than 60 - who have a family member with inflammatory bowel disease (IBD) - of Jewish descent - The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort. - A health care provider diagnoses ulcerative colitis with the following: - medical and family history - physical exam - lab tests - endoscopies of the large intestine - Which treatment a person needs depends on the severity of the disease and symptoms. - Good nutrition is important in the management of ulcerative colitis. A health care provider may recommend that a person make dietary changes. - People with ulcerative colitis should talk with their health care provider about how often they should get screened for colon cancer.
Saliva does more than keep your mouth wet. It helps digest food, protects teeth from decay, helps to heal sores in your mouth, and prevents infection by controlling bacteria, viruses, and fungi in the mouth. Saliva is also what helps us chew and swallow. Each of these functions of saliva is hampered when a person has dry mouth.
Mild cognitive impairment, or MCI, is a condition that can be an early sign of Alzheimers diseasebut not everyone with MCI will develop Alzheimers. People with MCI can still take care of themselves and do their normal activities. Signs of MCI may include - losing things often - forgetting to go to events and appointments - having more trouble coming up with words than other people the same age. losing things often forgetting to go to events and appointments having more trouble coming up with words than other people the same age.
Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly. Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.
Both types of junctional epidermolysis bullosa are 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 SLC25A19 gene cause Amish lethal microcephaly. The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. This compound is involved in the activity of a group of mitochondrial enzymes called the dehydrogenase complexes, one of which is the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development. All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and alpha-ketoglutaric aciduria seen in Amish lethal microcephaly.
Summary : If you have diabetes, your body cannot make or properly use insulin. This leads to high blood glucose, or blood sugar, levels. Healthy eating helps keep your blood sugar in your target range. It is a critical part of managing your diabetes, because controlling your blood sugar can prevent the complications of diabetes. A registered dietitian can help make an eating plan just for you. It should take into account your weight, medicines, lifestyle, and other health problems you have. Healthy diabetic eating includes - Limiting foods that are high in sugar - Eating smaller portions, spread out over the day - Being careful about when and how many carbohydrates you eat - Eating a variety of whole-grain foods, fruits and vegetables every day - Eating less fat - Limiting your use of alcohol - Using less salt NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Is there a treatment for Naegeli syndrome? Treatment for Naegeli syndrome is based on an individual's symptoms. Dry skin can be moisturized with creams. To avoid overheating, affected individuals should wear appropriate clothing and use wet dressings. Dental care is needed treat cavities and tooth loss.
Primary congenital glaucoma affects approximately 1 in 10,000 people. Its frequency is higher in the Middle East. Juvenile open-angle glaucoma affects about 1 in 50,000 people. Primary open-angle glaucoma is much more common after the age of 40, affecting about 1 percent of the population worldwide.
Causes of cirrhosis include - heavy alcohol use - some drugs, medicines, and harmful chemicals - infections - chronic hepatitis B, C, or Dviral infections that attack the liver - autoimmune hepatitis, which causes the bodys immune system to destroy liver cells - nonalcoholic fatty liver disease, which is often caused by obesity - diseases that damage or destroy bile ductstubes that carry bile from the liver Some inherited diseasesdiseases that are passed from parent to childcan cause cirrhosis: - hemochromatosis, a disease that causes iron to collect in the liver - Wilson disease, a condition that causes copper to build up in the liver - porphyria, a disorder that affects the skin, bone marrow, and liver
These resources address the diagnosis or management of Bannayan-Riley-Ruvalcaba syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Bannayan-Riley-Ruvalcaba syndrome - University of Iowa: Bannayan-Ruvalcaba-Riley Syndrome (BRRS): A Guide for Patients and Their Families 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
These resources address the diagnosis or management of hereditary spherocytosis: - Genetic Testing Registry: Hereditary spherocytosis - Genetic Testing Registry: Spherocytosis type 2 - Genetic Testing Registry: Spherocytosis type 3 - Genetic Testing Registry: Spherocytosis type 4 - Genetic Testing Registry: Spherocytosis type 5 - Genetic Testing Registry: Spherocytosis, type 1, autosomal recessive - Seattle Children's Hospital: Hereditary Spherocytosis Treatment Options 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 : Every day, around the clock, people who work in the health care industry provide care for millions of people, from newborns to the very ill. In fact, the health care industry is one of largest providers of jobs in the United States. Many health jobs are in hospitals. Others are in nursing homes, doctors' offices, dentists' offices, outpatient clinics and laboratories. To work in a health occupation, you often must have special training. Some, like doctors, must have more than 4 years of college. Bureau of Labor Statistics
Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's a genetic problem. In other cases, exposure to certain medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, abnormally small or large, or not fully developed. Treatment depends upon the problem. In many cases, treatment only helps with symptoms. It may include antiseizure medicines, shunts to drain fluid from the brain, and physical therapy. There are head malformations that do not involve the brain. Craniofacial disorders are the result of abnormal growth of soft tissue and bones in the face and head. It's common for new babies to have slightly uneven heads, but parents should watch the shape of their baby's head for possible problems. NIH: National Institute of Neurological Disorders and Stroke
The pelvic floor is a group of muscles and other tissues that form a sling or hammock across the pelvis. In women, it holds the uterus, bladder, bowel, and other pelvic organs in place so that they can work properly. The pelvic floor can become weak or be injured. The main causes are pregnancy and childbirth. Other causes include being overweight, radiation treatment, surgery, and getting older. Common symptoms include - Feeling heaviness, fullness, pulling, or aching in the vagina. It gets worse by the end of the day or during a bowel movement. - Seeing or feeling a "bulge" or "something coming out" of the vagina - Having a hard time starting to urinate or emptying the bladder completely - Having frequent urinary tract infections - Leaking urine when you cough, laugh, or exercise - Feeling an urgent or frequent need to urinate - Feeling pain while urinating - Leaking stool or having a hard time controlling gas - Being constipated - Having a hard time making it to the bathroom in time Your health care provider diagnoses the problem with a physical exam, a pelvic exam, or special tests. Treatments include special pelvic muscle exercises called Kegel exercises. A mechanical support device called a pessary helps some women. Surgery and medicines are other treatments. NIH: National Institute of Child Health and Human Development
Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes including psychosis. A world-wide epidemic of encephalitis lethargica occurred from 1917 to 1928. The cause of this condition is unknown, and treatment depends on a person's symptoms. Levodopa and other antiparkinson drugs often produce dramatic responses.
Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children. Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Gender identity is typically female. Complete androgen insensitivity syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner. Treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. In general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty.
Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. Several prescription eye medications are available for treatment. However, the infection can be difficult to treat. The best treatment regimen for each patient should be determined by an eye doctor. If you suspect your eye may be infected with Acanthamoeba, see an eye doctor immediately. Skin infections that are caused by Acanthamoeba but have not spread to the central nervous system can be successfully treated. Because this is a serious infection and the people affected typically have weakened immune systems, early diagnosis offers the best chance at cure. Most cases of brain and spinal cord infection with Acanthamoeba (Granulomatous Amebic Encephalitis) are fatal.
The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years.
Signs and symptoms of adult non-Hodgkin lymphoma include swelling in the lymph nodes, fever, night sweats, weight loss, and fatigue. These signs and symptoms may be caused by adult non-Hodgkin lymphoma or by other conditions. Check with your doctor if you have any of the following: - Swelling in the lymph nodes in the neck, underarm, groin, or stomach. - Fever for no known reason. - Recurring night sweats. - Feeling very tired. - Weight loss for no known reason. - Skin rash or itchy skin. - Pain in the chest, abdomen, or bones for no known reason. When fever, night sweats, and weight loss occur together, this group of symptoms is called B symptoms. Other signs and symptoms of adult non-Hodgkin lymphoma may occur and depend on the following: - Where the cancer forms in the body. - The size of the tumor. - How fast the tumor grows.
Gout is a form of arthritis that frequently affects joints in the lower part of the body such as the knees, ankles, or toes. The affected joint may become swollen, red, or warm. Attacks usually occur at night. Sometime during the course of the disease, many patients will develop gout in the big toe. Other signs and symptoms of gout include - hyperuricemia -- high levels of uric acid in the body - the presence of uric acid crystals in joint fluid - more than one attack of acute arthritis - arthritis that develops in a day, producing a swollen, red, and warm joint - attack of arthritis in only one joint, often the toe, ankle, or knee. hyperuricemia -- high levels of uric acid in the body the presence of uric acid crystals in joint fluid more than one attack of acute arthritis arthritis that develops in a day, producing a swollen, red, and warm joint attack of arthritis in only one joint, often the toe, ankle, or knee.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Alagille syndrome. However, these factors are important for people with Alagille syndrome, particularly children, who are malnourished, growing poorly, or have delayed puberty. Caregivers and parents of children with Alagille syndrome should try to maximize their children's potential for growth through good eating, diet, and nutrition. A nutritionist or a dietitiana person with training in nutrition and dietcan work with someone with Alagille syndrome and his or her health care team to build an appropriate healthy eating plan. A person with Alagille syndrome may need to take dietary supplements or vitamins in addition to eating a set number of calories, based on the type of complications the person has. Researchers consider good nutrition to be one of the most important aspects of managing the disorder. If potential liver problems are present, a person with Alagille syndrome should not drink alcoholic beverages without talking with his or her health care provider first. Additionally, eating, diet, and nutrition play a part in overall health and preventing further health problems.
These resources address the diagnosis or management of narcolepsy: - Genetic Testing Registry: Narcolepsy 1 - Genetic Testing Registry: Narcolepsy 2, susceptibility to - Genetic Testing Registry: Narcolepsy 3 - Genetic Testing Registry: Narcolepsy 4, susceptibility to - Genetic Testing Registry: Narcolepsy 5, susceptibility to - Narcolepsy Network: 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
Many cases of prostate cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the prostate. When prostate cancer is related to inherited gene changes, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1, BRCA2, and HOXB13 genes are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. In other cases, the inheritance of prostate cancer risk is unclear. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer.
Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.
These resources address the diagnosis or management of hereditary folate malabsorption: - Gene Review: Gene Review: Hereditary Folate Malabsorption - Genetic Testing Registry: Congenital defect of folate absorption - MedlinePlus Encyclopedia: Folate - MedlinePlus Encyclopedia: Folate Deficiency - MedlinePlus Encyclopedia: Folate-Deficiency Anemia - MedlinePlus Encyclopedia: Malabsorption These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What are the signs and symptoms of Ewing sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Ewing sarcoma. 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) Ewing's sarcoma - Somatic mutation - 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.
Limited information is available about the number of children with IBS. Older studies have reported prevalence rates for recurrent abdominal pain in children of 10 to 20 percent.1 However, these studies did not differentiate IBS from functional abdominal pain, indigestion, and abdominal migraine. One study of children in North America found that 14 percent of high school students and 6 percent of middle school students have IBS. The study also found that IBS affects boys and girls equally.2
LCH can be caused by mutations in the RELN or TUBA1A gene. The RELN gene provides instructions for making a protein called reelin. In the developing brain, reelin turns on (activates) a signaling pathway that triggers nerve cells (neurons) to migrate to their proper locations. The protein produced from the TUBA1A gene is also involved in neuronal migration as a component of cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules form scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving neurons. Mutations in either the RELN or TUBA1A gene impair the normal migration of neurons during fetal development. As a result, neurons are disorganized, the normal folds and grooves of the brain do not form, and brain structures do not develop properly. This impairment of brain development leads to the neurological problems characteristic of LCH.
Centronuclear myopathy refers to a group of rare, inherited conditions that affect the muscles. There are three main forms of the condition that are differentiated by their pattern of inheritance: X-linked Myotubular Myopathy Autosomal Dominant Centronuclear Myopathy Autosomal Recessive Centronuclear Myopathy The cause of the condition and the associated signs and symptoms vary by subtype. For more information, click on the link of interest above. Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood. Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual. With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.
How is myotonic dystrophy type 1 inherited? Myotonic dystrophy type 1 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 affected parent. As myotonic dystrophy is passed from one generation to the next, the disorder generally begins earlier in life and signs and symptoms become more severe. This phenomenon is called anticipation. Some individuals diagnosed with Myotonic dystrophy type 1 have an obviously affected parent; others do not. A parent may appear to be unaffected because symptoms may be mild or absent. Genetic testing is available to confirm the presence of the condition.
Is Kienbock's disease inherited? There is currently no evidence that Kienbock's disease is inherited. However, the cause of Kienbock's disease is not known. It is possible that unidentified genetic factors contribute to the development of the condition.
There is no standard course of treatment for holoprosencephaly. Treatment is symptomatic and supportive.
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.
Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks. Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease. You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk: - Control your blood pressure - Lower your cholesterol - Don't smoke - Get enough exercise NIH: National Heart, Lung, and Blood Institute
A cystocele, also called a prolapsed or dropped bladder, is the bulging or dropping of the bladder into the vagina. The bladder, located in the pelvis between the pelvic bones, is a hollow, muscular, balloon-shaped organ that expands as it fills with urine. During urination, also called voiding, the bladder empties through the urethra, located at the bottom of the bladder. The urethra is the tube that carries urine outside of the body. The vagina is the tube in a womans body that runs beside the urethra and connects the womb, or uterus, to the outside of the body.

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