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Summary : You can help prevent medical errors by being an active member of your health care team. Research shows that patients who are more involved with their care tend to get better results. To reduce the risk of medical errors, you can - Ask questions if you have doubts or concerns. Take a relative or friend to your doctor appointment to help you ask questions and understand answers. - Make sure you understand what will happen if you need surgery - Tell your health care providers about all the medicines you take, including over-the-counter drugs and dietary supplements. Tell them if you have any allergies or bad reactions to anesthesia. Make sure you know how to take your medications correctly. - Get a second opinion about treatment options - Keep a copy of your own health history Agency for Healthcare Research and Quality
How is autosomal dominant craniometaphyseal dysplasia inherited? Autosomal dominant craniometaphyseal dysplasia is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
These resources address the diagnosis or management of glycogen storage disease type IX: - Gene Review: Gene Review: Phosphorylase Kinase Deficiency - Genetic Testing Registry: Glycogen storage disease IXb - Genetic Testing Registry: Glycogen storage disease IXc - Genetic Testing Registry: Glycogen storage disease IXd - Genetic Testing Registry: Glycogen storage disease type IXa1 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 infantile-onset ascending hereditary spastic paralysis: - Gene Review: Gene Review: ALS2-Related Disorders - Genetic Testing Registry: Infantile-onset ascending hereditary spastic paralysis 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
ALPS is a rare disorder; its prevalence is unknown. More than 200 affected individuals have been identified worldwide.
These resources address the diagnosis or management of Duane-radial ray syndrome: - Gene Review: Gene Review: SALL4-Related Disorders - Genetic Testing Registry: Duane-radial ray syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities 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 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. More commonly, this condition results from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head.
These resources address the diagnosis or management of DICER1 syndrome: - Cancer.Net from the American Society of Clinical Oncology: Pleuropulmonary Blastoma--Childhood Treatment - Gene Review: Gene Review: DICER1-Related Disorders - Genetic Testing Registry: Pleuropulmonary blastoma 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
Russell-Silver syndrome (RSS) is a congenital disorder that causes poor growth; low birth weight; short height; and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) due to feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly (curved finger); digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Most cases are not inherited from a parent and occur sporadically. In rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner.
Basic research helps scientists gain new knowledge about a disease process, including how and why it starts and progresses. In Alzheimers disease, basic research seeks to identify the cellular, molecular, and genetic processes that lead to the disease. For example, scientists are studying - the ways in which plaques and tangles damage nerve cells in the brain - the very earliest brain changes in the disease process - the role of Alzheimers risk-factor genes in the development of the disease - how risk-factor genes interact with other genes and lifestyle or environmental factors to affect Alzheimers risk. the ways in which plaques and tangles damage nerve cells in the brain the very earliest brain changes in the disease process the role of Alzheimers risk-factor genes in the development of the disease how risk-factor genes interact with other genes and lifestyle or environmental factors to affect Alzheimers risk. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research.
These resources address the diagnosis or management of moyamoya disease: - Barrow Neurological Institute: What Medical Therapies Are Used To Treat Moyamoya Disease? - Boston Children's Hospital: Learn More About Treatment for Moyamoya Disease - Genetic Testing Registry: Moyamoya disease - Genetic Testing Registry: Moyamoya disease 2 - Genetic Testing Registry: Moyamoya disease 3 - Genetic Testing Registry: Moyamoya disease 5 - National Institute of Neurological Disorders and Stroke: Moyamoya Disease Information Page 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
Autosomal recessive axonal neuropathy with neuromyotonia is caused by mutations in the HINT1 gene. This gene provides instructions for making a protein that is involved in the function of the nervous system; however its specific role is not well understood. Laboratory studies show that the HINT1 protein has the ability to carry out a chemical reaction called hydrolysis that breaks down certain molecules; however, it is not known what effects the reaction has in the body. HINT1 gene mutations that cause autosomal recessive axonal neuropathy with neuromyotonia lead to production of a HINT1 protein with little or no function. Sometimes the abnormal protein is broken down prematurely. Researchers are working to determine how loss of functional HINT1 protein affects the peripheral nerves and leads to the signs and symptoms of this condition.
Adult-onset vitelliform macular dystrophy (AVMD) is an eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells. Signs and symptoms usually begin between ages 30 and 50 and include blurred and/or distorted vision, which can progress to central vision loss over time.Historically, AVMD has been characterized as a genetic disorder caused by mutations in the PRPH2, BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that there may be other unidentified genes and/or environmental causes.The majority of cases due to a mutation in the identified genes are inherited in an autosomal dominant manner; however not all individuals have AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.
Although its exact prevalence is unknown, hypokalemic periodic paralysis is estimated to affect 1 in 100,000 people. Men tend to experience symptoms of this condition more often than women.
If you suspect you have been infected, consult your health care provider immediately. Be sure to tell your health care provider if you have recently been exposed to raccoons or their feces. Diagnosis is difficult because symptoms depend on the number of infecting larvae and location in the body. Ocular larva migrans, when the larvae migrate to the eye, can cause sensitivity to light, inflammation of the eye, and blindness. Symptoms of visceral larva migrans, when the larvae travel to organs, depend on which organs are affected. For example, an invasion of the liver may cause hepatomegaly (inflammation and enlargement of the liver), while an invasion of the lung may cause pulmonary symptoms such as cough or chest pain. Larvae rarely end up in the nervous system but the most severe cases are neural larva migrans, when the larvae migrate into the brain and cause it to swell (encephalitis). There is no commercially available test for Baylisascaris infection. A health care provider may test blood, cerebrospinal fluid (CSF), and tissue to determine if an individual is infected. Eye examinations may reveal a migrating larva or lesions and are often the most significant clue to infection with Baylisascaris. Diagnosis often is made by ruling out other infections that cause similar symptoms. Information on diagnosis and testing can be obtained through your local or state health department or CDC. More on: Resources for Health Professionals: Diagnosis
These resources address the diagnosis or management of Tay-Sachs disease: - Gene Review: Gene Review: Hexosaminidase A Deficiency - Genetic Testing Registry: Tay-Sachs disease - MedlinePlus Encyclopedia: Tay-Sachs 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
Renal tubular acidosis with deafness is characterized by kidney (renal) problems and sensorineural hearing loss. Infants with this condition may have problems with feeding and gaining weight (failure to thrive). Most children and adults with the condition have short stature, and many develop kidney stones. Other less common features include a softening and weakening of the bones and hypokalemic paralysis (extreme muscle weakness associated with low levels of potassium in the blood). Renal tubular acidosis with deafness is caused by mutations in the ATP6V1B1 or ATP6V0A4 gene. It is inherited in an autosomal recessive pattern. Treatment with sodium bicarbonate or sodium citrate can reduce or prevent many of the symptoms of this condition.
Most cases of MRKH syndrome occur in people with no history of the disorder in their family. Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. However, in some families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is typically sufficient to cause the disorder, although no genes have been associated with MRKH syndrome.
What causes hypophosphatemic rickets? Hypophosphatemic rickets is almost always hereditary and may be caused by mutations in any of several genes. The specific gene involved determines the way it is inherited. Most commonly, it is caused by a mutation in the PHEX gene. Other genes that can be responsible for the condition include the CLCN5, DMP1, ENPP1, FGF23, and SLC34A3 genes. The genes associated with hereditary hypophosphatemic rickets are involved in keeping a proper balance of phosphate in the body. Many of these genes directly or indirectly regulate a protein that normally inhibits the kidneys' ability to reabsorb phosphate into the blood. Mutations affecting the function of these genes increase the production (or reduce the breakdown) of the protein, causing the protein to be overactive. The overactivity of the protein reduces phosphate reabsorption by the kidneys, leading to the features of the condition. Rarer, sporadic, acquired cases are sometimes associated with benign (non-cancerous) mesenchymal tumors that decrease resorption of phosphate.
CASK-related intellectual disability, as its name suggests, is caused by mutations in the CASK gene. This gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development. It also helps regulate the movement of chemicals called neurotransmitters and of charged atoms (ions), which are necessary for signaling between neurons. Research suggests that the CASK protein may also interact with the protein produced from another gene, FRMD7, to promote development of the nerves that control eye movement (the oculomotor neural network). Mutations in the CASK gene affect the role of the CASK protein in brain development and function, resulting in the signs and symptoms of CASK-related intellectual disability. The severe form of this disorder, MICPCH, is caused by mutations that eliminate CASK function, while mutations that impair the function of this protein cause the milder form, XL-ID with or without nystagmus. Affected individuals with nystagmus may have CASK gene mutations that disrupt the interaction between the CASK protein and the protein produced from the FRMD7 gene, leading to problems with the development of the oculomotor neural network and resulting in abnormal eye movements.
How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of S. maltophilia bacteria.
Chances are you've bumped your head before. Usually, the injury is minor because your skull is hard and it protects your brain. But other head injuries can be more severe, such as a skull fracture, concussion, or traumatic brain injury. Head injuries can be open or closed. A closed injury does not break through the skull. With an open, or penetrating, injury, an object pierces the skull and enters brain tissue. Closed injuries are not always less severe than open injuries. Some common causes of head injuries are falls, motor vehicle accidents, violence, and sports injuries. It is important to know the warning signs of a moderate or severe head injury. Get help immediately if the injured person has - A headache that gets worse or does not go away - Repeated vomiting or nausea - Convulsions or seizures - An inability to wake up - Dilation of one or both pupils of the eyes - Slurred speech - Weakness or numbness in the arms or legs - Loss of coordination - Increased confusion, restlessness, or agitation NIH: National Institute of Neurological Disorders and Stroke
Diabetic retinopathy is a complication of diabetes and a leading cause of blindness. It occurs when diabetes damages the tiny blood vessels inside the retina, the light-sensitive tissue at the back of the eye. A healthy retina is necessary for good vision. If you have diabetic retinopathy, at first you may notice no changes to your vision. But over time, diabetic retinopathy can get worse and cause vision loss. Diabetic retinopathy usually affects both eyes. See this graphic for a quick overview of diabetic eye disease, including how many people it affects, whos at risk, what to do if you have it, and how to learn more.
The prevalence of all forms of microcephaly that are present from birth (primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns worldwide. About 200 families with MCPH have been reported in the medical literature. This condition is more common in several specific populations, such as in northern Pakistan, where it affects an estimated 1 in 10,000 newborns.
Summary : Ultrasound is a type of imaging. It uses high-frequency sound waves to look at organs and structures inside the body. Health care professionals use it to view the heart, blood vessels, kidneys, liver, and other organs. During pregnancy, doctors use ultrasound to view the fetus. Unlike x-rays, ultrasound does not expose you to radiation. During an ultrasound test, you lie on a table. A special technician or doctor moves a device called a transducer over part of your body. The transducer sends out sound waves, which bounce off the tissues inside your body. The transducer also captures the waves that bounce back. The ultrasound machine creates images from the sound waves.
The vast majority of febrile seizures are short and harmless. There is no evidence that short febrile seizures cause brain damage. Multiple or prolonged seizures are a risk factor for epilepsy but most children who experience febrile seizures do not go on to develop the reoccurring seizures that re characteristic of epilepsy. Certain children who have febrile seizures face an increased risk of developing epilepsy. These children include those who have a febrile seizure that lasts longer than 10 minutes, who have febrile seizures that are lengthy or affect only one part of the body, or experience seizures that reoccur within 24 hours..
Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis A, is caused by the hepatitis A virus (HAV). The disease spreads through contact with an infected person's stool. You can get it from - Eating food made by an infected person who did not wash their hands after using the bathroom - Drinking untreated water or eating food washed in untreated water - Putting into your mouth a finger or object that came into contact with an infected person's stool - Having close contact with an infected person, such as through sex or caring for someone who is ill Most people do not have any symptoms. If you do have symptoms, you may feel as if you have the flu. You may also have yellowish eyes and skin, called jaundice. A blood test will show if you have HAV. HAV usually gets better in a few weeks without treatment. However, some people can have symptoms for up to 6 months. Your doctor may suggest medicines to help relieve your symptoms. The hepatitis A vaccine can prevent HAV. Good hygiene can also help. Wash your hands thoroughly before preparing food, after using the toilet, or after changing a diaper. International travelers should be careful about drinking tap water. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Is plasminogen deficiency, type 1 inherited? If so, in what manner? Plasminogen deficiency, type 1 is inherited in an autosomal recessive fashion, which means that an individual must inherit two disease-causing mutated copies of the plasminogen gene in order to have the condition and exhibit symptoms.
Vasculitis can affect people of all ages and races and both sexes. Some types of vasculitis seem to occur more often in people who: Have certain medical conditions, such as chronic hepatitis B or C infection Have certain autoimmune diseases, such a lupus, rheumatoid arthritis, and scleroderma Smoke For more information, go to "Types of Vasculitis."
SOST-related sclerosing bone dysplasia is caused by mutations in or near the SOST gene. The SOST gene provides instructions for making the protein sclerostin. Sclerostin is produced in osteocytes, which are a type of bone cell. The main function of sclerostin is to stop (inhibit) bone formation. Mutations in the SOST gene that cause sclerosteosis prevent the production of any functional sclerostin. A lack of sclerostin disrupts the inhibitory role it plays during bone formation, causing excessive bone growth. SOST mutations that cause van Buchem disease result in a shortage of functional sclerostin. This shortage reduces the protein's ability to inhibit bone formation, causing the excessive bone growth seen in people with van Buchem disease.
Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of molecules called N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to be released in the urine. Neurological problems ranging from mild to severe also occur in some affected individuals. People with beta-ureidopropionase deficiency can have low muscle tone (hypotonia), seizures, speech difficulties, developmental delay, intellectual disability, and autistic behaviors that affect communication and social interaction. Some people with this condition have an abnormally small head size (microcephaly); they may also have brain abnormalities that can be seen with medical imaging. Deterioration of the optic nerve, which carries visual information from the eyes to the brain, can lead to vision loss in this condition. In some people with beta-ureidopropionase deficiency, the disease causes no neurological problems and can only be diagnosed by laboratory testing.
Symptoms of pyelonephritis can vary depending on a persons age and may include the following: - fever - vomiting - back, side, and groin pain - chills - nausea - frequent, painful urination Children younger than 2 years old may only have a high fever without symptoms related to the urinary tract. Older people may not have any symptoms related to the urinary tract either; instead, they may exhibit confusion, disordered speech, or hallucinations.
How might Barraquer-Simons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques. No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status. If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure.
Domestic violence is a type of abuse. It usually involves a spouse or partner, but it can also be a child, elderly relative, or other family member. Domestic violence may include - Physical violence that can lead to injuries such as bruises or broken bones - Sexual violence - Threats of physical or sexual violence - Emotional abuse that may lead to depression, anxiety, or social isolation It is hard to know exactly how common domestic violence is, because people often don't report it. There is no typical victim. It happens among people of all ages. It affects those of all levels of income and education. The first step in getting help is to tell someone you trust. Centers for Disease Control and Prevention
Leukemia is cancer of the white blood cells. It is the most common type of childhood cancer. Your blood cells form in your bone marrow. White blood cells help your body fight infection. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. Leukemia can develop quickly or slowly. Acute leukemia is a fast growing type while chronic leukemia grows slowly. Children with leukemia usually have one of the acute types. Symptoms include - Infections - Fever - Loss of appetite - Tiredness - Easy bruising or bleeding - Swollen lymph nodes - Night sweats - Shortness of breath - Pain in the bones or joints Risk factors for childhood leukemia include having a brother or sister with leukemia, having certain genetic disorders and having had radiation or chemotherapy. Treatment often cures childhood leukemia. Treatment options include chemotherapy, other drug therapy and radiation. In some cases bone marrow and blood stem cell transplantation might help. NIH: National Cancer Institute
Although small benign pituitary tumors are fairly common in the general population, symptomatic prolactinomas are uncommon. Prolactinomas occur more often in women than men and rarely occur in children.
Genetic testing may be helpful whether the test identifies a mutation or not. Test results can - serve as a relief, eliminating some of the uncertainty about a health condition - help doctors make recommendations for treatment or monitoring - give people information to use in making decisions about their and their familys health - help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits - help people make informed choices about their future, such as whether to have a baby. serve as a relief, eliminating some of the uncertainty about a health condition help doctors make recommendations for treatment or monitoring give people information to use in making decisions about their and their familys health help people take steps to lower the chance of developing a disease through, for example, earlier and more frequent screening or changes in diet and exercise habits help people make informed choices about their future, such as whether to have a baby.
Treatments may include deep cleaning, medications, surgery, and bone and tissue grafts.
Aplastic anemia is a rare but serious blood disorder. People of all ages can develop aplastic anemia. However, it's most common in adolescents, young adults, and the elderly. Men and women are equally likely to have it. The disorder is two to three times more common in Asian countries. Your risk of aplastic anemia is higher if you: Have been exposed to toxins Have taken certain medicines or had radiation or chemotherapy (treatments for cancer) Have certain infectious diseases, autoimmune disorders, or inherited conditions For more information, go to "What Causes Aplastic Anemia?"
Cancer begins in your cells, which are the building blocks of your body. Normally, your body forms new cells as you need them, replacing old cells that die. Sometimes this process goes wrong. New cells grow even when you don't need them, and old cells don't die when they should. These extra cells can form a mass called a tumor. Tumors can be benign or malignant. Benign tumors aren't cancer while malignant ones are. Cells from malignant tumors can invade nearby tissues. They can also break away and spread to other parts of the body. Cancer is not just one disease but many diseases. There are more than 100 different types of cancer. Most cancers are named for where they start. For example, lung cancer starts in the lung, and breast cancer starts in the breast. The spread of cancer from one part of the body to another is called metastasis. Symptoms and treatment depend on the cancer type and how advanced it is. Most treatment plans may include surgery, radiation and/or chemotherapy. Some may involve hormone therapy, biologic therapy, or stem cell transplantation. NIH: National Cancer Institute
How might oral lichen planus be treated? It is important to identify and remove any potential agent that might have caused a lichenoid reaction. Chemicals or medications associated with development of lichen planus include gold, antibiotics, arsenic, iodides, chloroquine, quinacrine, quinidine, antimony, phenothiazines, diuretics such as chlorothiazide, and many others.[2483] Consideration regarding role of drugs that were started in recent months prior to the on set of oral lichen planus, as well as any contact allergens identified by patch testing is recommended. Symptoms may improve with the following measures: Meticulous oral hygiene Stopping smoking Topical steroids as drops, pastes, gels or sprays (e.g., triamcinolone paste) Steroid injections (intralesional triamcinolone) Mouth rinse containing the calcineurin inhibitors: cyclosporin or tacrolimus In severe cases systemic corticosteroids may be used. Other possible therapeutic agents may include: Thalidomide Systemic retinoids (acitretin or isotretinoin) Griseofulvin Azathioprine Cyclophosphamide Dapsone Metronidazole Low molecular weight heparin
Tetrahydrobiopterin deficiency can be caused by mutations in one of several genes, including GCH1, PCBD1, PTS, and QDPR. These genes provide instructions for making enzymes that help produce and recycle tetrahydrobiopterin in the body. Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine. It is also involved in the production of neurotransmitters. If one of the enzymes fails to function correctly because of a gene mutation, little or no tetrahydrobiopterin is available to help process phenylalanine. As a result, phenylalanine can build up in the blood and other tissues. Because nerve cells in the brain are particularly sensitive to phenylalanine levels, excessive amounts of this substance can cause brain damage. Tetrahydrobiopterin deficiency can also alter the levels of certain neurotransmitters, which disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition.
What are the symptoms of polymicrogyria? A wide variety of symptoms may be observed in people with polymicrogyria, including: Cognitive deficits Epilepsy Paralysis of the face, throat, and tongue Difficulty with speech Drooling
Almost all cases of Guillain-Barr syndrome are sporadic, which means they occur in people with no history of the condition in their family. A few families with more than one affected family member have been described; however, the condition does not have a clear pattern of inheritance. Multiple genetic and environmental factors likely play a part in determining the risk of developing this condition. As a result, inheriting a genetic variation linked with Guillain-Barr syndrome does not mean that a person will develop the condition.
Anonychia congenita is an extremely rare nail disorder characterized by the complete absence (anonychia) or abnormally developed fingernails and toenails. Affected individuals usually do not have hair, teeth, or bone abnormalities. Signs and symptoms are variable, even among affected members of the same family. Less than 20 individuals with anonychia congenita have been identified. This condition is thought to be caused by mutations in the RSPO4 gene and inherited in an autosomal recessive fashion.
Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. Other classic symptoms may include red eyes, lips, and mouth; rash; swollen and red hands and feet; and swollen lymph nodes. Sometimes the condition affects the coronary arteries (which carry oxygen-rich blood to the heart). This can lead to serious heart problems. Kawasaki syndrome occurs most often in people of Asian and Pacific Island descent. The cause of Kawasaki disease is unknown. An infection along with genetic factors may be involved. Treatment includes intravenous gamma globulin and high doses of aspirin in a hospital setting.
The prevalence of familial hyperaldosteronism is unknown. Familial hyperaldosteronism type II appears to be the most common variety. All types of familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of hyperaldosteronism.
The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been associated with congenital diaphragmatic hernia and some of the other features of Fryns syndrome. However, no specific genetic change has been found to cause all of the signs and symptoms of this disorder.
These resources address the diagnosis or management of X-linked thrombocytopenia: - Gene Review: Gene Review: WAS-Related Disorders - Genetic Testing Registry: Thrombocytopenia, X-linked - National Heart Lung and Blood Institute: How is Thrombocytopenia Treated? 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
Kidney dysplasia is a common condition. Scientists estimate that kidney dysplasia affects about one in 4,000 babies.1 This estimate may be low because some people with kidney dysplasia are never diagnosed with the condition. About half of the babies diagnosed with this condition have other urinary tract defects.2
Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.
These resources address the diagnosis or management of allergic asthma: - American Academy of Allergy Asthma and Immunology: Asthma Treatment and Management - Genetic Testing Registry: Asthma, atopic - Genetic Testing Registry: Asthma, susceptibility to These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with schwannomatosis. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. People with an inherited form of schwannomatosis have a 50% chance with each pregnancy of passing the condition on to the next generation.
Spondylothoracic dysostosis is a condition characterized by the malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or "crab" appearance in x-rays. Affected individuals have short, rigid necks and short midsections because of the bone malformations. As a result, people with spondylothoracic dysostosis have short bodies but normal length arms and legs, called short-trunk dwarfism. The spine and rib abnormalities cause other signs and symptoms of spondylothoracic dysostosis. Infants with this condition are born with a small chest that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand, the narrow chest forces the muscle that separates the abdomen from the chest cavity (the diaphragm) down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia) or belly-button (umbilical hernia). Spondylothoracic dysostosis is sometimes called spondylocostal dysostosis, a similar condition with abnormalities of the spine and ribs. The two conditions have been grouped in the past, and both are referred to as Jarcho-Levin syndrome; however, they are now considered distinct conditions.
The drug ribavirin has been shown to be effective against the viruses in vitro, but the clinical usefulness of this drug is uncertain. A post-exposure therapy with a Nipah/Hendra neutralizing antibody, efficacious in animal models is in human preclinical development stages in Australia.
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. However, some people who carry one copy of a mutated FOXN1 gene have abnormal fingernails or toenails.
Most cases of triple X syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells. 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX).
These resources address the diagnosis or management of familial porencephaly: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Familial porencephaly 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 : Whether a fire happens in your home or in the wild, it can be very dangerous. Fire spreads quickly. There is no time to gather valuables or make a phone call. In just two minutes, a fire can become life-threatening. In five minutes, a home can be engulfed in flames. Heat and smoke from fire can be more dangerous than the flames. Inhaling the super-hot air can burn your lungs. Fire produces poisonous gases that make you disoriented and drowsy. Instead of being awakened by a fire, you may fall into a deeper sleep. You can suffocate or be burned. Preventing fires is an important part of fire safety. Although there are no guarantees of safety during a fire, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency
Frequently Asked Queestions (FAQs)
Chromosome 16p13.3 deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, serious organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. 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 has 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. To learn more about chromosomal anomalies in general, please visit our GARD webpage on Chromosome Disorders.
How might cutaneous mastocytosis be treated? Although there is currently no cure for cutaneous mastocytosis, treatments are available to manage the symptoms of the condition. In general, it is recommended that affected people avoid things that trigger or worsen their symptoms when possible. Certain medications such as oral antihistamines and topical steroids are often prescribed to relieve symptoms. Affected adults may also undergo photochemotherapy which can help alleviate itching and improve the appearance of the patches; however, the condition is likely to recur within six to twelve months of the last treatment. People at risk for anaphylactic shock and/or their caregivers should be trained in how to recognize and treat this life-threatening reaction and should carry an epinephrine autoinjector at all times.
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.
How might linear porokeratosis be treated? Because linear porokeratosis is a rare condition, there is no established treatment protocol. Protection from sun exposure and regular visits to a doctor to check for skin cancer are encouraged as routine care. Treatment options depend on the size, location, and severity of the characteristic skin markings. Several medications (5-fluorouracil, acitretin) have been shown to be effective for treating this condition in a small number of patients. We identified a single report of photodynamic therapy being used to successfully treat an individual with linear porokeratosis. Surgery is recommended to remove any skin cancer that may develop.
Troyer syndrome is caused by a mutation in the SPG20 gene. The SPG20 gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from the cell surface into the cell (endocytosis). Spartin is found in a wide range of body tissues, including the nervous system.
Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown. The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. The protein plays a role in transmitting chemical signals within cells, particularly cells involved in the replacement of old bone tissue with new bone (bone remodeling) and certain immune system cells. Mutations in the SH3BP2 gene lead to the production of an overly active version of this protein. The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein disrupts critical signaling pathways in cells associated with the maintenance of bone tissue and in some immune system cells. The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts, which are cells that break down bone tissue during bone remodeling. An excess of these bone-eating cells contributes to the destruction of bone in the upper and lower jaws. A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of cherubism.
These resources address the diagnosis or management of Graves disease: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Graves disease 2 - Genetic Testing Registry: Graves disease 3 - Genetic Testing Registry: Graves disease, susceptibility to, X-linked 1 - Genetic Testing Registry: Graves' disease - Graves' Disease & Thyroid Foundation: Treatment Options - MedlinePlus Encyclopedia: TSI - National Institute of Diabetes and Digestive and Kidney Diseases: Thyroid Function Tests - Thyroid Disease Manager: Diagnosis and Treatment of Graves 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
How might Schwartz Jampel syndrome type 1 be treated? Treatment of Schwartz Jampel syndrome type 1 (SJS1) aims to reduce stiffness and cramping of muscles. This might include nonpharmacologic modalities such as massage, warming of muscles, and gradual strengthening exercises. Medications that might be utilized include muscle relaxants and anti seizure medications, particularly Carbamazepine. Botox might additionally be used to relieve eye symptoms such as blepharospasm (involuntary blinking of spasm of eyes). If Botox is not successful in managing eye symptoms, a variety of surgical techniques have been found to be effective. When considering surgery as an option, an important consideration is the risk for malignant hyperthermia, which could lead to adverse outcomes.
Gender and age may affect the risk of hairy cell leukemia. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. The cause of hairy cell leukemia is unknown. It occurs more often in older men.
Mutations in the CUL7 gene cause 3-M syndrome. The CUL7 gene provides instructions for making a protein called cullin-7. This protein plays a role in the cell machinery that breaks down (degrades) unwanted proteins, called the ubiquitin-proteasome system. Cullin-7 helps to assemble a complex known as an E3 ubiquitin ligase. This complex tags damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth. Mutations in the CUL7 gene that cause 3-M syndrome disrupt the ability of the cullin-7 protein to bring together the components of the E3 ubiquitin ligase complex, interfering with the process of tagging other proteins with ubiquitin (ubiquitination). It is not known how impaired ubiquitination results in the specific signs and symptoms of 3-M syndrome.
Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals.
Bloopityboopity disease makes patients temporarily bounce slightly when walking. Recovery techniques include wearing weighted shoes and avoiding trampoline parks which might exacerbate the condition.
Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of uric acid in the blood. Uric acid is a byproduct of certain normal chemical reactions in the body. In the bloodstream it acts as an antioxidant, protecting cells from the damaging effects of unstable molecules called free radicals. However, having too much uric acid in the body is toxic, so excess uric acid is removed from the body in urine. People with renal hypouricemia have little to no uric acid in their blood; they release an excessive amount of it in the urine. In many affected individuals, renal hypouricemia causes no signs or symptoms. However, some people with this condition develop kidney problems. After strenuous exercise, they can develop exercise-induced acute kidney injury, which causes pain in their sides and lower back as well as nausea and vomiting that can last several hours. Because an excessive amount of uric acid passes through the kidneys to be excreted in urine in people with renal hypouricemia, they have an increased risk of developing kidney stones (nephrolithiasis) formed from uric acid crystals. These uric acid stones can damage the kidneys and lead to episodes of blood in the urine (hematuria). Rarely, people with renal hypouricemia develop life-threatening kidney failure.
Taking steps to ensure a healthy pregnancy might prevent your infant from being born before his or her lungs have fully developed. These steps include: Seeing your doctor regularly during your pregnancy Following a healthy diet Not smoking and avoiding tobacco smoke, alcohol, and illegal drugs Controlling any ongoing medical conditions you have Preventing infection If your doctor thinks that you're going to give birth too early, he or she may give you injections of a corticosteroid medicine. The medicine can speed up surfactant production in your baby. Surfactant is a liquid that coats the inside of the lungs. It helps keep them open so your infant can breathe in air once he or she is born. Usually, within about 24 hours of your taking this medicine, the baby's lungs start making enough surfactant. This will reduce the infant's risk of respiratory distress syndrome (RDS), which can lead to bronchopulmonary dysplasia (BPD). Corticosteroids also can help your baby's lungs, brain, and kidneys develop more quickly while he or she is in the womb. If your baby does develop RDS, it will probably be fairly mild. If the RDS isn't mild, BPD will likely develop.
The inheritance pattern of Hashimoto thyroiditis is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Hashimoto thyroiditis or another autoimmune disorder likely increases a person's risk of developing the condition.
These resources address the diagnosis or management of Costello syndrome: - Gene Review: Gene Review: Costello Syndrome - Genetic Testing Registry: Costello 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
How might colpocephaly be treated? There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.
No specific diet will prevent or delay acquired cystic kidney disease. In general, a diet designed for people on hemodialysis or peritoneal dialysis reduces the amount of wastes that accumulate in the body between dialysis sessions. More information is provided in the NIDDK health topics, Eat Right to Feel Right on Hemodialysis and Nutrition for Advanced Chronic Kidney Disease in Adults.
Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). Damage to the nerves that control bladder function, a condition called neurogenic bladder, causes affected individuals to have progressive difficulty controlling the flow of urine. About half of people with adult polyglucosan body disease experience a decline in intellectual function (dementia). People with adult polyglucosan body disease typically first experience signs and symptoms related to the condition between ages 30 and 60.
Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected. Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures). Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat. RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations.
Most porphyrias are inherited disorders. Scientists have identified genes for all eight enzymes in the heme biosynthetic pathway. Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. Some porphyrias, such as congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and erythropoietic protoporphyria, occur when a person inherits two abnormal genes, one from each parent. The likeliness of a person passing the abnormal gene or genes to the next generation depends on the type of porphyria. Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. This type of porphyria can be triggered by - too much iron - use of alcohol or estrogen - smoking - chronic hepatitis Ca long-lasting liver disease that causes inflammation, or swelling, of the liver - HIVthe virus that causes AIDS - abnormal genes associated with hemochromatosisthe most common form of iron overload disease, which causes the body to absorb too much iron For all types of porphyria, symptoms can be triggered by - use of alcohol - smoking - use of certain medications or hormones - exposure to sunlight - stress - dieting and fasting
Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions. The urinary problems associated with Ochoa syndrome typically become apparent in early childhood or adolescence. People with this disorder may have difficulty controlling the flow of urine (incontinence), which can lead to bedwetting. Individuals with Ochoa syndrome may be unable to completely empty the bladder, often resulting in vesicoureteral reflux, a condition in which urine backs up into the ducts that normally carry it from each kidney to the bladder (the ureters). Urine may also accumulate in the kidneys (hydronephrosis). Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure. Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. While this feature may appear earlier than the urinary tract symptoms, perhaps as early as an infant begins to smile, it is often not brought to medical attention. Approximately two-thirds of individuals with Ochoa syndrome also experience problems with bowel function, such as constipation, loss of bowel control, or muscle spasms of the anus.
Nonalcoholic steatohepatitis, or NASH, is a common, often silent liver disease. It resembles alcoholic liver disease, but occurs in people who drink little or no alcohol. The major feature in NASH is fat in the liver, along with inflammation and damage. Most people with NASH feel well and are not aware that they have a liver problem. Nevertheless, NASH can be severe and can lead to cirrhosis, in which the liver is permanently damaged and scarred and no longer able to work properly. NASH most often occurs in people who are middle aged and overweight or obese. Affected individuals may also have elevated levels of blood lipids (such as cholesterol and triglycerides) and many have diabetes or prediabetes. Treatment is centered around working towards a healthy lifestyle, including weight reduction, dietary modification, increased activity and avoidance of alcohol and unnecessary medications. The underlying cause of NASH remains unclear.
Stroke occurs in all age groups, in both sexes, and in all races in every country. It can even occur before birth, when the fetus is still in the womb. Studies show the risk of stroke doubles for each decade between the ages of 55 and 85. However, a recent study found that stroke rates are on the rise for people under 55.
X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. "Tarda" indicates that signs and symptoms of this condition are not present at birth, but appear later in childhood, typically between ages 6 and 10. Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal abnormalities and short stature. Affected boys grow steadily until late childhood, when their growth slows. Male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short trunk and neck, and their arms appear disproportionately long. Impaired growth of the spinal bones (vertebrae) causes the short stature seen in this disorder. The spinal abnormalities include flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive thinning of the discs between vertebrae, and an abnormal curvature of the spine (scoliosis or kyphosis). Other skeletal features of X-linked spondyloepiphyseal dysplasia tarda include an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and decreased mobility of the elbow and hip joints. Arthritis often develops in early adulthood, typically affecting the hip joints and spine.
How might ovarian carcinosarcoma be treated? Because ovarian carcinosarcoma is rare, there are no established treatment guidelines. Treatment decisions are based on the unique features of each individual's diagnosis. The National Comprehensive Cancer Network (NCCN), a group of physicians and researchers who strive to improve cancer care, recommends that women with ovarian carcinosarcoma be treated similarly to women with ovarian carcinoma (also called epithelial ovarian cancer), which is the most common type of ovarian cancer. Currently, treatment for ovarian carcinosarcoma usually begins with surgery to remove as much of the cancer as possible. Chemotherapy may be used to destroy any cancer cells that could be in the body after surgery. Medications that contain platinum (such as the drug cisplatin) seem to be the most effective chemotherapies for ovarian carcinosarcoma. Recent evidence suggests that another medication called ifosfamide may increase the effectiveness of treatment when used in combination with platinum-based medications.
Townes-Brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most affected individuals have at least two of these three main features. The condition is caused by mutations in the SALL1 gene which provides instructions for making proteins that are involved in the formation of tissues and organs before birth. It follows an autosomal dominant pattern of inheritance.
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.
ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals have been described in the scientific literature.
These resources address the diagnosis or management of MECP2-related severe neonatal encephalopathy: - Cincinnati Children's Hospital: MECP2-Related Disorders - Gene Review: Gene Review: MECP2-Related Disorders - Genetic Testing Registry: Severe neonatal-onset encephalopathy with microcephaly - Johns Hopkins Children's Center: Failure to Thrive 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
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS) is a rare genetic condition that affects the vascular endothelium (the inner lining of the arteries and blood vessels). Specifically, the small blood vessels of the brain (microangiopathy); retina (vascular retinopathy); and kidneys are affected. Signs and symptoms may include progressive adult onset vision loss, psychiatric disturbances, stroke-like episodes, neurologic decline, and kidney disease. HERNS is inherited in an autosomal dominant manner. The term retinal vasculopathy with cerebral leukodystrophy (RVCL) has recently been adopted to include HERNS; cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR); historically, these 3 conditions have been considered distinct. Genetic studies have shown that these 3 conditions are likely variations of RVCL and are caused by mutations in the TREX1 gene.
Melanoma is the most serious type of skin cancer. Often the first sign of melanoma is a change in the size, shape, color, or feel of a mole. Most melanomas have a black or black-blue area. Melanoma may also appear as a new mole. It may be black, abnormal, or "ugly looking." Thinking of "ABCDE" can help you remember what to watch for: - Asymmetry - the shape of one half does not match the other - Border - the edges are ragged, blurred or irregular - Color - the color is uneven and may include shades of black, brown and tan - Diameter - there is a change in size, usually an increase - Evolving - the mole has changed over the past few weeks or months Surgery is the first treatment of all stages of melanoma. Other treatments include chemotherapy and radiation, biologic, and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Attacks cause severe weakness or paralysis that usually lasts from hours to days. Some people may have episodes almost every day, while others experience them weekly, monthly, or only rarely. Attacks can occur without warning or can be triggered by factors such as rest after exercise, a viral illness, or certain medications. Often, a large, carbohydrate-rich meal or vigorous exercise in the evening can trigger an attack upon waking the following morning. Although affected individuals usually regain their muscle strength between attacks, repeated episodes can lead to persistent muscle weakness later in life. People with hypokalemic periodic paralysis have reduced levels of potassium in their blood (hypokalemia) during episodes of muscle weakness. Researchers are investigating how low potassium levels may be related to the muscle abnormalities in this condition.
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. The hearing loss in affected individuals is caused by abnormalities of the inner ear (sensorineural hearing loss) and is present from birth. Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. The skin of affected individuals, which sunburns very easily, may tan slightly or develop reddish freckles with limited sun exposure; however, their skin and hair color remain lighter than those of other members of their family. Tietz syndrome also affects the eyes. The colored part of the eye (the iris) in affected individuals is blue, and specialized cells in the eye called retinal pigment epithelial cells lack their normal pigment. The retinal pigment epithelium nourishes the retina, the part of the eye that detects light and color. The changes to the retinal pigment epithelium are generally detectable only by an eye examination; it is unclear whether the changes affect vision.
Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brain stem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. Symptoms may change for some individuals depending on buildup of CNS and any resulting pressure on tissue and nerves. CMs are classified by the severity of the disorder and the parts of the brain that protrude into the spinal canal. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II (also called Arnold-Chiari malformation) is usually accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening. Type III is the most serious form of CM, and causes severe neurological defects. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia (a fluid-filled cyst in the spinal cord), and spinal curvature.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, symptoms of this disorder are not recognized early in life, and the condition is not diagnosed until adulthood. People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death. Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
These resources address the diagnosis or management of ulcerative colitis: - American Society of Colon and Rectal Surgeons - Cedars-Sinai - Crohn's & Colitis Foundation of America: Colitis Diagnosis and Testing - Crohn's & Colitis Foundation of America: Colitis Treatment Options - Genetic Testing Registry: Inflammatory bowel disease 1 - MedlinePlus Encyclopedia: Ulcerative Colitis 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
Waldenstrm macroglobulinemia affects an estimated 3 per million people each year in the United States. Approximately 1,500 new cases of the condition are diagnosed each year in this country, and whites are more commonly affected than African Americans. For unknown reasons, the condition occurs twice as often in men than women.
Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Some GAN gene mutations change the shape of the protein, affecting how it binds to other proteins to form a functional complex. Other mutations prevent cells from producing any gigaxonin protein. Gigaxonin is involved in a cellular function that destroys and gets rid of excess or damaged proteins using a mechanism called the ubiquitin-proteasome system. Neurons without functional gigaxonin accumulate excess neurofilaments in the axon, causing the axons to become distended. These giant axons do not transmit signals properly and eventually deteriorate, resulting in problems with movement and other nervous system dysfunction.