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Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown.
Summary : Electrolytes are minerals in your body that have an electric charge. They are in your blood, urine and body fluids. Maintaining the right balance of electrolytes helps your body's blood chemistry, muscle action and other processes. Sodium, calcium, potassium, chlorine, phosphate and magnesium are all electrolytes. You get them from the foods you eat and the fluids you drink. Levels of electrolytes in your body can become too low or too high. That can happen when the amount of water in your body changes, causing dehydration or overhydration. Causes include some medicines, vomiting, diarrhea, sweating or kidney problems. Problems most often occur with levels of sodium, potassium or calcium.
Cancer begins in the cells, which are the building blocks of your body. Normally, new cells form as you need them, replacing old cells that die. Sometimes, this process goes wrong. New cells form when you don't need them, and old cells don't die when they should. The extra cells can form a tumor. Benign tumors aren't cancer while malignant ones are. Malignant tumor cells can invade nearby tissues or break away and spread to other parts of the body. Children can get cancer in the same parts of the body as adults, but there are differences. Childhood cancers can occur suddenly, without early symptoms, and have a high rate of cure. The most common children's cancer is leukemia. Other cancers that affect children include brain tumors, lymphoma, and soft tissue sarcoma. Symptoms and treatment depend on the cancer type and how advanced it is. Treatment may include surgery, radiation and/or chemotherapy. NIH: National Cancer Institute
Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. The AIRE gene provides instructions for making a protein called the autoimmune regulator. As its name suggests, this protein plays a critical role in regulating certain aspects of immune system function. Specifically, it helps the body distinguish its own proteins and cells from those of foreign invaders (such as bacteria and viruses). This distinction is critical because to remain healthy, a person's immune system must be able to identify and destroy potentially harmful invaders while sparing the body's normal tissues. Mutations in the AIRE gene reduce or eliminate the function of the autoimmune regulator protein. Without enough of this protein, the immune system can turn against itself and attack the body's own organs. This reaction, which is known as autoimmunity, results in inflammation and can damage otherwise healthy cells and tissues. Damage to the adrenal glands, parathyroid glands, and other organs underlies many of the major features of autoimmune polyglandular syndrome, type 1. It remains unclear why people with this condition tend to get candidiasis infections. Although most of the characteristic features of autoimmune polyglandular syndrome, type 1 result from mutations in the AIRE gene, researchers believe that variations in other genes may help explain why the signs and symptoms of this condition can vary among affected individuals.
The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce and store hormones and release them into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells. The thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is made from T4 and is the more active hormone, directly affecting the tissues. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels.
Laboratory tests that are used to diagnose Hendra virus (HV) and Nipah virus (NV) include detection of antibody by ELISA (IgG and IgM), real time polymerase chain reaction (RT-PCR), and virus isolation attempts. In most countries, handling Hendra virus needs to be done in high containment laboratories. Laboratory diagnosis of a patient with a clinical history of HV or NV can be made during the acute and convalescent phase of the disease by using a combination of tests including detection of antibody in the serum or the cerebrospinal fluid (CSF), viral RNA detection (RT-PCR) in the serum, CSF, or throat swabs, and virus isolation from the CSF or throat swabs.
If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your kidneys. Your kidneys clean your blood. If they are damaged, waste and fluids build up in your blood instead of leaving your body. Kidney damage from diabetes is called diabetic nephropathy. It begins long before you have symptoms. An early sign of it is small amounts of protein in your urine. A urine test can detect it. A blood test can also help determine how well your kidneys are working. If the damage continues, your kidneys could fail. In fact, diabetes is the most common cause of kidney failure in the United States. People with kidney failure need either dialysis or a kidney transplant. You can slow down kidney damage or keep it from getting worse. Controlling your blood sugar and blood pressure, taking your medicines and not eating too much protein can help. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Megalencephalic leukoencephalopathy with subcortical cysts is a rare condition; its exact prevalence is unknown. More than 150 cases have been reported in the scientific literature.
PHA1 can have different inheritance patterns. When the condition is caused by mutations in the NR3C2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When PHA1 is caused by mutations in the SCNN1A, SCNN1B, or SCNN1G genes, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Mutations in the FAM126A gene cause hypomyelination and congenital cataract. The FAM126A gene provides instructions for making a protein called hyccin, the function of which is not completely understood. Based on the features of hypomyelination and congenital cataract, researchers presume that hyccin is involved in the formation of myelin throughout the nervous system. Hyccin is also active in the lens of the eye, the heart, and the kidneys. It is unclear how mutations in the FAM126A gene cause cataracts. Most FAM126A gene mutations that cause hypomyelination and congenital cataract prevent the production of hyccin. People who cannot produce any hyccin have problems forming myelin, leading to the signs and symptoms of this condition. People who have mutations that allow some protein production tend to have milder symptoms than those who produce no protein. These individuals typically retain the ability to walk longer, although they still need support, and they usually do not have peripheral neuropathy.
Is leukonychia totalis inherited? Leukonychia totalis can be inherited in either an autosomal dominant or autosomal recessive manner. It may also occur as part of various underlying conditions or abnormalities, some of which have their own specific genetic cause(s) and inheritance patterns. In some cases, the condition is idiopathic (of unknown cause). Autosomal dominant inheritance means that having a change (mutation) in only one copy of the disease-causing gene is enough to cause signs or symptoms. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Autsomal recessive inheritance means that a person must have mutations in both copies of the disease-causing gene to have the condition. Usually, one mutated copy is inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms.
Spondyloepiphyseal dysplasia (SED) Maroteaux type is a rare skeletal dysplasia that is characterized by short stature beginning in infancy, short, stubby hands and feet, and genu valgum (knock knees). In addition to these physical characteristics, individuals with SED Maroteaux type have some common radiographic findings, including platyspondyly (flattened vertebral bodies in the spine), abnormalities of the pelvis and severe brachydactyly (short fingers and toes). Intelligence is generally normal and there is no clouding of the cornea, which distinguishes SED Maroteaux type from other forms of spondyloepiphyseal dysplasia. SED Maroteaux type is caused by mutations in the TRPV4 gene and is inherited any an autosomal dominant fashion.
What causes Cushing's syndrome? Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) or tumors of the adrenal gland may also cause cortisol imbalances.
How might children with achondroplasia be treated? Recommendations for management of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics in the article, Health Supervision for Children with Achondroplasia. We recommend that you review this article with your childs health care provider(s). These recommendations include: Monitoring of height, weight, and head circumference using growth curves standardized for achondroplasia Measures to avoid obesity starting in early childhood. Careful neurologic examinations, with referral to a pediatric neurologist as necessary MRI or CT of the foramen magnum region for evaluation of severe hypotonia or signs of spinal cord compression Obtaining history for possible sleep apnea, with sleep studies as necessary Evaluation for low thoracic or high lumbar gibbus if truncal weakness is present Referral to a pediatric orthopedist if bowing of the legs interferes with walking Management of frequent middle-ear infections Speech evaluation by age two years Careful monitoring of social adjustment The GeneReview article on achondroplasia also provides information on medical management. http://www.ncbi.nlm.nih.gov/books/NBK1152/#achondroplasia.Management
How might hereditary geniospasm be treated? Hereditary geniospasm, which may also be referred to as hereditary essential chin myoclonus, is generally considered a benign disorder although in some cases it can cause anxiety and social embarrassment. Significant improvement with age has been reported. Several drugs are used to treat myoclonus, such as benzodiazepines and anticonvulsants. However, individuals may not respond to a single medication and may experience significant side effects if a combination of drugs is used. It has also been suggested that botulinum toxin be considered as a primary treatment because it has been shown to be effective and well tolerated.
How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearance to return to normal. Other treatments that may be used instead of steroid creams, or in combination with steroid creams, include calcipotriol cream, topical and systemic retinoids (acitretin), and/or systemic steroids. If the vaginal opening has narrowed, dilators may be needed. In rare cases, surgery is necessary to allow for sexual intercourse. The condition sometimes causes the vaginal opening to narrow or close again after surgery is initially successful. Additional information about treatment of lichen sclerosus can be viewed on Medscape's Web site.
How is Duchenne muscular dystrophy (DMD) diagnosed? Duchenne muscular dystrophy (DMD) is suspected and diagnosed when the following clinical findings are found: a positive family history of DMD, more men affected that women in a family, progressive muscle weakness which is usually greater in the proximal muscles (closest to the trunk of the body) than distal muscles (those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs), symptoms before the age of 5 years old and wheel chair dependency before age 13. Testing for DMD includes: a blood test which measures the levels of serum creatine phosphokinase (CPK); electromyography which is used to distinguish conditions that only impact the muscles (myotonic) from those that involve that brain and muscles (neurogenic); a skeletal muscle biopsy which is used to detect the presence of specific proteins with a visible label (immunohistochemistry) and molecular genetic testing for deletions, duplications, rearrangements, etc. of genetic material.
Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal. The two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.
How might aniridia be treated? In childhood, treatment for aniridia focuses on regular eye examinations including necessary corrective lenses, tinted lenses to reduce light sensitivity, and occlusion therapy to address vision abnormalities. Children with Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome require regular renal ultrasounds, hearing tests and evaluation by a pediatric oncologist. Additional treatment is adapted to each individual depending on the associated complications.
These resources address the diagnosis or management of pyruvate kinase deficiency: - Cincinnati Children's Hospital Medical Center: Hemolytic Anemia - Genetic Testing Registry: Pyruvate kinase deficiency of red cells - Johns Hopkins Medicine: Hemolytic Anemia 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 HOXA13 gene cause hand-foot-genital syndrome. The HOXA13 gene provides instructions for producing a protein that plays an important role in development before birth. Specifically, this protein appears to be critical for the formation and development of the limbs (particularly the hands and feet), urinary tract, and reproductive system. Mutations in the HOXA13 gene cause the characteristic features of hand-foot-genital syndrome by disrupting the early development of these structures. Some mutations in the HOXA13 gene result in the production of a nonfunctional version of the HOXA13 protein. Other mutations alter the protein's structure and interfere with its normal function within cells. Mutations that result in an altered but functional HOXA13 protein may cause more severe signs and symptoms than mutations that lead to a nonfunctional HOXA13 protein.
These resources address the diagnosis or management of congenital bilateral absence of the vas deferens: - Gene Review: Gene Review: CFTR-Related Disorders - Genetic Testing Registry: Congenital bilateral absence of the vas deferens - MedlinePlus Encyclopedia: Infertility - MedlinePlus Encyclopedia: Pathway of sperm (image) - MedlinePlus Health Topic: Assisted Reproductive Technology 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
Scientists are concentrating on finding new treatments and refining existing ones. Scientists are also looking at the workings of the immune system to find which cells are responsible for beginning and carrying out the attack on the nervous system. The fact that so many cases of Guillain-Barr begin after a viral or bacterial infection suggests that certain characteristics of some viruses and bacteria may activate the immune system inappropriately. Investigators are searching for those characteristics. Neurological scientists, immunologists, virologists, and pharmacologists are all working collaboratively to learn how to prevent this disorder and to make better therapies available when it strikes.
Mutations in the AGPAT2, BSCL2, CAV1, and PTRF genes cause congenital generalized lipodystrophy types 1 through 4, respectively. The proteins produced from these genes play important roles in the development and function of adipocytes, which are the fat-storing cells in adipose tissue. Mutations in any of these genes reduce or eliminate the function of their respective proteins, which impairs the development, structure, or function of adipocytes and makes the body unable to store and use fats properly. These abnormalities of adipose tissue disrupt hormones and affect many of the body's organs, resulting in the varied signs and symptoms of congenital generalized lipodystrophy. Some of the genes associated with congenital generalized lipodystrophy also play roles in other cells and tissues. For example, the protein produced from the BSCL2 gene is also present in the brain, although its function is unknown. A loss of this protein in the brain may help explain why congenital generalized lipodystrophy type 2 is sometimes associated with intellectual disability. In some people with congenital generalized lipodystrophy, no mutations have been found in any of the genes listed above. Researchers are looking for additional genetic changes associated with this disorder.
CACT deficiency is very rare; at least 30 cases have been reported.
What causes Mowat-Wilson syndrome? Mowat-Wilson syndrome is caused by mutations in the ZEB2 (also known as ZFHX1B or SIP-1) gene. This gene provides instructions for making a protein that plays a critical role in the formation of many organs and tissues before birth. It is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that ZEB2 protein is involved in the development of tissues that give rise to the nervous system, digestive tract, facial features, heart, and other organs. Mowat-Wilson syndrome almost always results from the loss of one working copy of the ZEB2 gene in each cell. In some cases, the entire gene is deleted. In other cases, mutations within the gene lead to the production of an abnormally short, nonfunctional version of the ZEB2 protein. A shortage of this protein disrupts the normal development of many organs and tissues, which causes the varied signs and symptoms of Mowat-Wilson syndrome.
The Creutzfeldt-Jakob Disease Foundation, Inc. (www.cjdfoundation.org) was created in 1993 by two families who lost relatives to CJD and the neurologist who treated their family members. This nonprofit corporation seeks to promote awareness of CJD through research and education and to reach out to people who have lost loved ones to this illness. For information on CJD from the NIH, see www.ninds.nih.gov. The Human Growth Foundation (HGF) (www.hgfound.org) is a nonprofit organization concerned with children's growth disorders and adult GH deficiency. The HGF has information available online and through its toll-free number, 18004516434. The HGF also supports an Internet mailing list to help the exchange of information about adult GH deficiency and adult GH replacement therapy.
The prevalence of HFTC is unknown, but it is thought to be a rare condition. It occurs most often in Middle Eastern and African populations.
Krabbe disease in infants is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer.
These resources address the diagnosis or management of maple syrup urine disease: - Baby's First Test - Gene Review: Gene Review: Maple Syrup Urine Disease - Genetic Testing Registry: Maple syrup urine disease - MedlinePlus Encyclopedia: Maple Syrup Urine Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Iron is an essential nutrient found in many foods. Healthy people usually absorb less than 10 percent of iron in the food they eat.6 People with hemochromatosis absorb up to 30 percent of that iron.6 People with hemochromatosis can help prevent iron overload by - eating only moderate amounts of iron-rich foods, such as red meat and organ meat - avoiding supplements that contain iron - avoiding supplements that contain vitamin C, which increases iron absorption People with hemochromatosis can take steps to help prevent liver damage, including - limiting the amount of alcoholic beverages they drink because alcohol increases their chance of cirrhosis and liver cancer - avoiding alcoholic beverages entirely if they already have cirrhosis
Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. People with this condition generally have characteristic facial features, severe sensorineural hearing loss, vision problems and an absent or underdeveloped corpus callosum (the tissue connecting the left and right halves of the brain). Other features may include diaphragmatic hernia, omphalocele, and/or other abnormalities of the intestine or heart. Affected people often have mild to moderate intellectual disability and developmental delay. Donnai Barrow syndrome is caused by changes (mutations) in the LRP2 gene and is inherited in an autosomal recessive manner. Treatment of this condition is based on the signs and symptoms present in each person but may include hearing aids and/or cochlear implants for hearing loss, corrective lenses for vision problems and surgery for certain physical abnormalities.
These resources address the diagnosis or management of androgen insensitivity syndrome: - Gene Review: Gene Review: Androgen Insensitivity Syndrome - Genetic Testing Registry: Androgen resistance syndrome - MedlinePlus Encyclopedia: Androgen Insensitivity Syndrome - MedlinePlus Encyclopedia: Intersex - MedlinePlus Encyclopedia: Reifenstein 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
These resources address the diagnosis or management of Bowen-Conradi syndrome: - Genetic Testing Registry: Bowen-Conradi syndrome - MedlinePlus Encyclopedia: Feeding Tube--Infants 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
1q21.1 microdeletion is a rare chromosomal change; only a few dozen individuals with this deletion have been reported in the medical literature.
Most people first notice symptoms, such as tingling or numbness, in their hands or feet. Other common symptoms include sudden or sharp pain sensations, loss of sensation of touch, loss of balance or difficulty walking, trouble picking up objects or buttoning clothes, and being more -- or less -- sensitive to heat and cold.
If you have been taking analgesics regularly to control chronic pain, you may be advised to find new ways to treat your pain, such as behavior modification or relaxation techniques. Depending on how much your kidney function has declined, you may be advised to change your diet, limit the fluids you drink, or take medications to avoid anemia and bone problems caused by kidney disease. Your doctor will monitor your kidney function with regular urine and blood tests.
Gay, lesbian, bisexual and transgender individuals have special health concerns besides the usual ones that affect most men and women. On this page you'll find information about these specific health issues.
For surgery, the main side effects are short-term pain and tenderness around the area of the operation. For chemotherapy, the side effects depend on which drugs you take and what the dosages are. Most often the side effects include nausea, vomiting, and hair loss. For radiation therapy, fatigue, loss of appetite, nausea, and diarrhea may occur. There are many new drugs that have greatly reduced the degree of nausea that used to be experienced because of some of these treatments.
Stormorken syndrome is a rare condition that affects many body systems. Affected individuals usually have thrombocytopenia, in which there are abnormally low numbers of blood cells called platelets. Platelets are involved in normal blood clotting; a shortage of platelets typically results in easy bruising and abnormal bleeding. In addition, affected individuals often have a muscle disorder, called tubular aggregate myopathy, that leads to muscle weakness. Another feature of Stormorken syndrome is permanent constriction of the pupils of the eyes (miosis), which may be caused by abnormalities in the muscles that control the size of the pupils. Other features include lack of a functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and difficulty with reading and spelling (dyslexia).
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to megalencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent megalencephaly and the other cephalic disorders.
If left untreated, gum disease can lead to tooth loss. Gum disease is the leading cause of tooth loss in older adults.
The term cerebral palsy refers to a group of neurological disorders that appear in infancy or early childhood and permanently affect body movement, muscle coordination, and balance.CP affects the part of the brain that controls muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later.The early signs of cerebral palsy usually appear before a child reaches 3 years of age.The most common are a lack of muscle coordination when performing voluntary movements (ataxia); stiff or tight muscles and exaggerated reflexes (spasticity); walking with one foot or leg dragging; walking on the toes, a crouched gait, or a scissored gait; and muscle tone that is either too stiff or too floppy.Other neurological symptoms that commonly occur in individuals with CP include seizures, hearing loss and impaired vision, bladder and bowel control issues, and pain and abnormal sensations. A small number of children have CP as the result of brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, or head injury from a motor vehicle accident, a fall, or child abuse. The disorder isn't progressive, meaning that the brain damage typically doesn't get worse over time. Risk factors associated with CP do not cause the disorder but can increase a child's chance of being born with the disorder.CP is not hereditary.
Mutations in the REN gene cause REN-related kidney disease. This gene provides instructions for making a protein called renin that is produced in the kidneys. Renin plays an important role in regulating blood pressure and water levels in the body. Mutations in the REN gene that cause REN-related kidney disease result in the production of an abnormal protein that is toxic to the cells that normally produce renin. These kidney cells gradually die off, which causes progressive kidney disease.
Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers in the hands and feet. Symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. Symptoms of CMT2B vary but tend to be similar to that of CMT type 1. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion.
How is Best vitelliform macular dystrophy inherited? Best vitelliform macular dystrophy (BVMD) is most commonly inherited in an autosomal dominant manner, although a few cases with autosomal recessive inheritance have been reported. In autosomal dominant inheritance, having one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. Most people with BVMD have an affected parent, but some people have the condition as the result of a new mutation that occurred for the first time. Autosomal recessive inheritance means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
What causes adolescent idiopathic scoliosis? The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not yet been identified. Researchers suspect that many genes are involved in adolescent idiopathic scoliosis. Some of these genes likely contribute to causing the disorder, while others play a role in determining the severity of spinal curvature and whether the curve is stable or progressive. Although many genes have been studied, few clear and consistent genetic associations with this condition have been identified.
Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide.
This condition is most commonly 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. Rarely, 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. This may cause vision loss or blindness. Click here to view a diagram of the eye. Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.
What are the signs and symptoms of Cone dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal electroretinogram 90% Abnormality of color vision 90% Abnormality of retinal pigmentation 90% Photophobia 90% Visual impairment 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain. The following may be signs of kidney stones that need a doctor's help: - Extreme pain in your back or side that will not go away - Blood in your urine - Fever and chills - Vomiting - Urine that smells bad or looks cloudy - A burning feeling when you urinate Your doctor will diagnose a kidney stone with urine, blood, and imaging tests. If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Some studies show that normal variations in certain genes may be associated with an increased risk of developing Guillain-Barr syndrome; however, more research is necessary to identify and confirm associated genes. Many of the genes that may increase the risk of Guillain-Barr syndrome are involved in the immune system, and their roles in fighting infection may contribute to the development of the condition. Most people who develop Guillain-Barr syndrome have a bacterial or viral infection prior to developing the signs and symptoms of the condition. However, only a very small percentage of people who have an infection develop Guillain-Barr syndrome. In order to fight the infection, specialized immune cells produce proteins called antibodies that recognize specific proteins or molecules on the bacteria or virus (pathogen). Some research shows that antibodies that recognize molecules on some pathogens may also recognize proteins on the body's own nerves. As a result, the immune system attacks the nerves, causing inflammation and damaging the axons and myelin, which can lead to the signs and symptoms of Guillain-Barr syndrome.
These and other signs and symptoms may be caused by retinoblastoma or by other conditions. Check with a doctor if your child has any of the following: - Pupil of the eye appears white instead of red when light shines into it. This may be seen in flash photographs of the child. - Eyes appear to be looking in different directions (lazy eye). - Pain or redness in the eye. - Infection around the eye. - Eyeball is larger than normal. - Colored part of the eye and pupil look cloudy.
Within the NINDS research programs, meralgia paresthetica is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing these debilitating conditions.
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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Myofibrillar myopathy is part of a group of disorders called muscular dystrophies that affect muscle function and cause weakness. Myofibrillar myopathy primarily affects skeletal muscles, which are muscles that the body uses for movement. In some cases, the heart (cardiac) muscle is also affected. The signs and symptoms of myofibrillar myopathy vary widely among affected individuals, typically depending on the condition's genetic cause. Most people with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. However, features of this condition can appear anytime between infancy and late adulthood. Muscle weakness most often begins in the hands and feet (distal muscles), but some people first experience weakness in the muscles near the center of the body (proximal muscles). Other affected individuals develop muscle weakness throughout their body. Facial muscle weakness can cause swallowing and speech difficulties. Muscle weakness worsens over time. Other signs and symptoms of myofibrillar myopathy can include a weakened heart muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness in the limbs (peripheral neuropathy), and respiratory failure. Individuals with this condition may have skeletal problems including joint stiffness (contractures) and abnormal side-to-side curvature of the spine (scoliosis). Rarely, people with this condition develop clouding of the lens of the eyes (cataracts).
These resources address the diagnosis or management of Alpers-Huttenlocher syndrome: - Gene Review: Gene Review: POLG-Related Disorders - Genetic Testing Registry: Progressive sclerosing poliodystrophy - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Viral hemorrhagic fevers (VHFs) are a group of illnesses caused by four families of viruses. These include the Ebola and Marburg, Lassa fever, and yellow fever viruses. VHFs have common features: they affect many organs, they damage the blood vessels, and they affect the body's ability to regulate itself. Some VHFs cause mild disease, but some, like Ebola or Marburg, cause severe disease and death. VHFs are found around the world. Specific diseases are usually limited to areas where the animals that carry them live. For example, Lassa fever is limited to rural areas of West Africa where rats and mice carry the virus. The risk for travelers is low, but you should avoid visiting areas where there are disease outbreaks. Because there are no effective treatments for some of these viral infections, there is concern about their use in bioterrorism. Centers for Disease Control and Prevention
These resources address the diagnosis or management of 8p11 myeloproliferative syndrome: - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Treatment Options - Genetic Testing Registry: Chromosome 8p11 myeloproliferative 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
These resources address the diagnosis or management of retinitis pigmentosa: - American Foundation for the Blind: Living with Vision Loss - Foundation Fighting Blindness: Treatment of Retinitis Pigmentosa - Gene Review: Gene Review: Retinitis Pigmentosa Overview - Genetic Testing Registry: Retinitis pigmentosa - RP Fighting Blindness: Treatment of Retinitis Pigmentosa 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
Some people think that Medicare and Medicaid are the same. Actually, they are two different programs. Medicaid is a state-run program that provides hospital and medical coverage for people with low income and little or no resources. Each state has its own rules about who is eligible and what is covered under Medicaid. Some people qualify for both Medicare and Medicaid. If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit http://www.medicare.gov on the web. (Under "Search Tools," select "Find Helpful Phone Numbers and Websites.") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048.
Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side . Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.
These resources address the diagnosis or management of Gillespie syndrome: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Do Health Care Providers Diagnose Intellectual and Developmental Disabilities? - Eunice Kennedy Shriver National Institute of Child Health and Human Development: What Are Treatments for Intellectual and Developmental Disabilities? - Genetic Testing Registry: Aniridia, cerebellar ataxia, and mental retardation 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 pontocerebellar hypoplasia: - Gene Review: Gene Review: EXOSC3-Related Pontocerebellar Hypoplasia - Gene Review: Gene Review: TSEN54-Related Pontocerebellar Hypoplasia - Genetic Testing Registry: Pontoneocerebellar hypoplasia - MedlinePlus Encyclopedia: Microcephaly 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 anophthalmia plus syndrome diagnosed? A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies). A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out.
How is celiac artery compression syndrome diagnosed? A diagnosis of celiac artery compression syndrome might be suspected in middle aged (40-60) female patients with a triad of symptoms including abdominal pain after eating, weight loss, and abdominal bruit (abnormal sound of a blood vessel when blocked or narrowed). Abdominal imaging is used to confirm the diagnosis and rule out other similarly presenting disorders. Imaging methodologies might include: CT angiography, MRI, ultrasound, and arteriography.
Infectious diseases kill more people worldwide than any other single cause. Infectious diseases are caused by germs. Germs are tiny living things that are found everywhere - in air, soil and water. You can get infected by touching, eating, drinking or breathing something that contains a germ. Germs can also spread through animal and insect bites, kissing and sexual contact. Vaccines, proper hand washing and medicines can help prevent infections. There are four main kinds of germs: - Bacteria - one-celled germs that multiply quickly and may release chemicals which can make you sick - Viruses - capsules that contain genetic material, and use your own cells to multiply - Fungi - primitive plants, like mushrooms or mildew - Protozoa - one-celled animals that use other living things for food and a place to live NIH: National Institute of Allergy and Infectious Diseases
How might livedoid vasculopathy be treated? Treatment of livedoid vasculopathy aims to reduce pain, ulceration and scarring. General treatment measures may involve protecting the skin from injury and irritants, removing dead tissue from the ulcers, treating infection with antibiotics, elevating legs, compression therapy, and avoiding smoking and hormonal contraceptives. Treatments will also be given to address any co-occurring conditions such as lupus or thrombophilia. Drugs that aim to improve blood flow or prevent blood clotting may also be considered. Examples of these treatments, include: Antiplatelet agents (e.g. aspirin, dipyridamole) Fibrinolytic agents (e.g. danazol, tissue plasminogen activator) Anticoagulant agents (e.g. subcutaneous heparin injections, oral warfarin) Pentoxifylline Low-dose danazol (200 mg/day orally) Hyperbaric oxygen Pulsed intravenous immunoglobulin Iloprost Ketanserin Psoralen plus ultraviolet A (PUVA) therapy Niacin (nicotinic acid) Sulfapyridine Guanethidine Currently there are no established guidelines for treatment. Decisions for treatment are made based on the clinicians clinical experience and specific patient characteristics. We strongly recommend that you discuss this information and your treatment options further with a trusted healthcare professional.
In most cases of cyclic vomiting syndrome, affected people have no known history of the disorder in their family. However, many affected individuals have a family history of related conditions, such as migraines, irritable bowel syndrome, or depression, in their mothers and other maternal relatives. This family history suggests an inheritance pattern known as maternal inheritance or mitochondrial inheritance, which applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. Occasionally, people with cyclic vomiting syndrome have a family history of the disorder that does not follow maternal inheritance. In these cases, the inheritance pattern is unknown.
Having certain diseases and inherited disorders can increase the risk of childhood soft tissue sarcoma. 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 childs doctor if you think your child may be at risk. Risk factors for childhood soft tissue sarcoma include having the following inherited disorders: - Li-Fraumeni syndrome. - Familial adenomatous polyposis (FAP). - Retinoblastoma 1 gene changes. - Neurofibromatosis type 1 (NF1). - Werner syndrome. Other risk factors include the following: - Past treatment with radiation therapy. - Having AIDS (acquired immune deficiency syndrome) and Epstein-Barr virus infection at the same time.
How is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency inherited? Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. Usually, the parents of a person with an autosomal recessive condition each have one mutated copy of the gene and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
Some people with Addisons disease who are aldosterone deficient can benefit from following a diet rich in sodium. A health care provider or a dietitian can give specific recommendations on appropriate sodium sources and daily sodium guidelines if necessary. Corticosteroid treatment is linked to an increased risk of osteoporosisa condition in which the bones become less dense and more likely to fracture. People who take corticosteroids should protect their bone health by consuming enough dietary calcium and vitamin D. A health care provider or a dietitian can give specific recommendations on appropriate daily calcium intake based upon age and suggest the best types of calcium supplements, if necessary.
How might arginase deficiency be treated? The treatment and management of arginase deficiency is generally focused on lowering arginine levels and preventing hyperammonemia (an accumulation of ammonia in the blood). This may be accomplished through dietary modifications and the use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions. More specifically, people affected by arginase deficiency must restrict dietary protein and arginine. This is often achieved with the use of specialized formulas, which may account for half or more of protein intake. Although people with arginase deficiency are less prone to episodes of severe hyperammonemia than people affected by other urea cycle disorders, special treatment is needed should these episodes occur. During an episode, affected people are generally treated in the hospital and may require dialysis, nitrogen-scavenging medications, intravenous (IV) fluids/feeds and/or other treatments. These treatments are administered with the goal of rapidly reducing blood ammonia levels and preventing neurological damage. GeneReviews offers more specific information on the treatment of arginase deficiency and urea cycle disorders, in general. Please click on the links to access these resources.
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.
Osteoglophonic dysplasia is a rare disorder; its prevalence is unknown. Only about 15 cases have been reported in the medical literature.
How might Jones syndrome be treated? Due to the rarity of Jones syndrome, there are no treatment guidelines available in the medical literature. However, there is information about how the features associated with Jones syndrome might be treated. Treatment for gingival fibromatosis varies depending on the severity. Maintaining good oral hygiene is very important. Surgery to remove the enlarged gum tissue in the mouth (gingivectomy) may be needed for functional and/or cosmetic reasons. Enlargement may recur to various extents, and repeated surgeries may be needed to reshape the gums. It has been recommended that whenever possible, this treatment should be performed after the complete eruption of permanent teeth. The goal of treatment for sensorineural hearing loss is to improve hearing. People with sensorineural hearing loss may use hearing aids; telephone amplifiers and other assistive devices; sign language (for those with severe hearing loss); and/or speech reading (such as lip reading and using visual cues to aid communication). A cochlear implant may be recommended for some people with severe hearing loss.
What are the signs and symptoms of Usher syndrome, type 1C? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1C. 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 - Congenital sensorineural hearing impairment - Rod-cone dystrophy - Vestibular hypofunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
The NINDS supports and conducts research on sleep disorders such as hypersomnia. The goal of this research is to increase scientific understanding of the condition, find improved methods of diagnosing and treating it, and discover ways to prevent it.
What are the signs and symptoms of Congenital anosmia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital anosmia. 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) Anosmia - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
These resources address the diagnosis or management of progressive osseous heteroplasia: - Genetic Testing Registry: Progressive osseous heteroplasia 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
Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. Symptoms may include unusual limb positioning; a lack of coordination when walking or running; sleep problems; and episodes of depression. Affected people also often develop a group of movement abnormalities called parkinsonism. Although movement difficulties usually worsen with age, they often stabilize around age 30. DRD may be caused by mutations in the GCH1, TH or SPR genes, or the cause may be unknown. Depending on the genetic cause, DRD may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. This form of dystonia is called 'dopa-responsive' dystonia because the symptoms typically improve during treatment with levodopa and carbidopa.
Is there treatment for prurigo nodularis? Prurigo nodularis can be challenging to treat. Due to the intensity of the itch patients may go from doctor to doctor without receiving much relief. Treatment may vary from person to person, as no one treatment is always effective at alleviating symptoms. Several treatments may need to be tried. You can read further treatment information by visiting the American Osteopathic College of Dermatology (ACOD) information page on prurigo nodularis. Click here to view the page from the ACOD.
Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Rarely, you can also get cancer in your gallbladder. Many gallbladder problems get better with removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways of reaching your small intestine.
How might Poland syndrome be treated? Management of Poland syndrome may include surgical correction of the chest wall deformities. Surgical options are available to improve appearance in both males and females. In females, breast reconstruction is typically performed at the time of normal full breast development and can be planned in conjunction with or following reconstruction of the chest wall. In males reconstruction of the chest may not be necessary if there is no underlying chest wall deformity. The optimal surgical approach will vary from patient to patient. Surgical options should be discussed with a surgeon familiar with reconstructive surgery in people with Poland syndrome.
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.
Vitiligo is a common disorder, affecting between 0.5 percent and 1 percent of the population worldwide. While the condition may be more noticeable in dark-skinned people, it occurs with similar frequency in all ethnic groups.
What causes osteochondritis dissecans? In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime. In some families, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene. In these cases, which are referred to as familial osteochondritis dissecans, the condition generally affects multiple joints and is also associated with short stature and early-onset osteoarthritis. The ACAN gene encodes a protein that is important to the structure of cartilage. Mutations in this gene weaken cartilage, which leads to the various signs and symptoms of familial osteochondritis disssecans.
Cushing disease is caused by elevated levels of a hormone called cortisol, which leads to a wide variety of signs and symptoms. This condition usually occurs in adults between the ages of 20 and 50; however, children may also be affected. The first sign of this condition is usually weight gain around the trunk and in the face. Affected individuals may get stretch marks (striae) on their thighs and abdomen and bruise easily. Individuals with Cushing disease can develop a hump on their upper back caused by abnormal deposits of fat. People with this condition can have muscle weakness, severe tiredness, and progressively thin and brittle bones that are prone to fracture (osteoporosis). They also have a weakened immune system and are at an increased risk of infections. Cushing disease can cause mood disorders such as anxiety, irritability, and depression. This condition can also affect a person's concentration and memory. People with Cushing disease have an increased chance of developing high blood pressure (hypertension) and diabetes. Women with Cushing disease may experience irregular menstruation and have excessive hair growth (hirsutism) on their face, abdomen, and legs. Men with Cushing disease may have erectile dysfunction. Children with Cushing disease typically experience slow growth.
Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Onset of the disorder generally occurs in early adulthood. Tremor may begin in one extremity and later spread to involve the entire voluntary muscular system. Arms are usually more affected than legs. Some of the cases are due to mitochondrial abnormalities.
Heart disease is the leading cause of death in the U.S. It is also a major cause of disability. The risk of heart disease increases as you age. You have a greater risk of heart disease if you are a man over age 45 or a woman over age 55. You also are at greater risk if you have a close family member who had heart disease at an early age. Fortunately, there are many things you can do reduce your chances of getting heart disease. You should - Know your blood pressure and keep it under control - Exercise regularly - Don't smoke - Get tested for diabetes and if you have it, keep it under control - Know your cholesterol and triglyceride levels and keep them under control - Eat a lot of fruits and vegetables - Maintain a healthy weight
An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. Although the reason is unclear, this condition is more common in regions that are farther away from the equator. In Canada, parts of the northern United States, western and northern Europe, Russia, and southeastern Australia, the condition affects approximately 1 in 2,000 to 2,400 people. It is less common closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South America, where about 1 in 20,000 people are affected. For unknown reasons, most forms of multiple sclerosis affect women twice as often as men; however, women and men are equally affected by primary progressive MS.
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth. About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis). The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.
How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. Patients are most commonly treated and followed by oncologists and/or hematologists. Additional information about treatment of gamma heavy chain disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site. Using "gamma heavy chain disease [ti] AND treatment" as your search term should help you locate articles. Use the advanced search feature to narrow your results. Click here to view a search.
The prevalence of aromatase deficiency is unknown; approximately 20 cases have been described in the medical literature.
Isolated polymicrogyria can have different inheritance patterns. Several forms of the condition, including bilateral frontoparietal polymicrogyria (which is associated with mutations in the ADGRG1 gene), have an autosomal recessive pattern of inheritance. In autosomal recessive inheritance, 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. Polymicrogyria can also have an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Other forms of polymicrogyria appear to have an X-linked pattern of inheritance. Genes associated with X-linked conditions are located on the X chromosome, which is one of the two sex chromosomes. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Some people with polymicrogyria have relatives with the disorder, while other affected individuals have no family history of the condition. When an individual is the only affected person in his or her family, it can be difficult to determine the cause and possible inheritance pattern of the disorder.
Breast cancer is the second most commonly diagnosed cancer in women. (Only skin cancer is more common.) About one in eight women in the United States will develop invasive breast cancer in her lifetime. Researchers estimate that more than 230,000 new cases of invasive breast cancer will be diagnosed in U.S. women in 2015. Male breast cancer represents less than 1 percent of all breast cancer diagnoses. Scientists estimate that about 2,300 new cases of breast cancer will be diagnosed in men in 2015. Particular gene mutations associated with breast cancer are more common among certain geographic or ethnic groups, such as people of Ashkenazi (central or eastern European) Jewish heritage and people of Norwegian, Icelandic, or Dutch ancestry.
There is no cure for A-T and, currently, no way to slow the progression of the disease. Treatment is symptomatic and supportive. Physical and occupational therapy help to maintain flexibility. Speech therapy is important, teaching children to control air flow to the vocal cords. Gamma-globulin injections may be useful if immunoglobulin levels are sufficiently reduced to weaken the immune system. High-dose vitamin regimens and antioxidants such as alpha lipoic acid also may also be used.
This condition 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 typically has 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.
How might periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis be treated? Treatment options that have been successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine.

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