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Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from a new mutation in one of the genes and occur in people with no history of the disorder in their family. Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other genes that have not been identified. Polycystic kidney disease also can be inherited in an autosomal recessive pattern. People with this form of the condition have two altered copies of the PKHD1 gene in each cell. The parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.
Campomelic dysplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in or near the SOX9 gene and occur in people with no history of the disorder in their family. Rarely, affected individuals inherit a chromosome abnormality from a parent who may or may not show mild signs and symptoms of campomelic dysplasia.
Summary : Assisted reproductive technology (ART) is used to treat infertility. It includes fertility treatments that handle both a woman's egg and a man's sperm. It works by removing eggs from a woman's body. The eggs are then mixed with sperm to make embryos. The embryos are then put back in the woman's body. In vitro fertilization (IVF) is the most common and effective type of ART. ART procedures sometimes use donor eggs, donor sperm, or previously frozen embryos. It may also involve a surrogate or gestational carrier. A surrogate is a woman who becomes pregnant with sperm from the male partner of the couple. A gestational carrier becomes pregnant with an egg from the female partner and the sperm from the male partner. The most common complication of ART is a multiple pregnancy. It can be prevented or minimized by limiting the number of embryos that are put into the woman's body.
What causes necrotizing fasciitis? Bacteria that can cause necrotizing fasciitis (NF) include the following: Klebsiella, Clostridium, and Escherichia coli; group A Streptococcus is the most common cause. Anyone can develop NF. Approximately 50% of necrotizing fasciitis cases caused by streptococcal bacteria occur in young and otherwise healthy individuals. Although necrotizing fasciitis most frequently develops after trauma that causes a break in the skin, it can also develop after minor trauma that occurs without a break in the skin. NF can occur as a complication of a surgical procedure; it can also occur at the site of a relatively minor injury such as an insect bite or an injection. In addition, underlying illnesses which weaken the immune system may increase the risk that a person will develop NF. Studies have even suggested a possible relationship between the use of nonsteroidal anti-inflammatory medications (NSAIDs) during varicella infections and the development of necrotizing fasciitis.
Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), gammopathy, and other conditions . Pyoderma gangrenosum belongs to a group of skin diseases in which a common cellular denominator is the neutrophil. Neutrophils are a type of white blood cell or leukocyte which form an early line of defense against bacterial infections. Each year in the United States, pyoderma gangrenosum occurs in about 1 person per 100.000 people.
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. Females with the classic form have ambiguous external genitalia with normal internal reproductive organs. Males and females with the classic form have early development of their secondary sexual characteristics (precocious puberty). The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life.
A sprain is a stretched or torn ligament. Ligaments are tissues that connect bones at a joint. Falling, twisting, or getting hit can all cause a sprain. Ankle and wrist sprains are common. Symptoms include pain, swelling, bruising, and being unable to move your joint. You might feel a pop or tear when the injury happens. A strain is a stretched or torn muscle or tendon. Tendons are tissues that connect muscle to bone. Twisting or pulling these tissues can cause a strain. Strains can happen suddenly or develop over time. Back and hamstring muscle strains are common. Many people get strains playing sports. Symptoms include pain, muscle spasms, swelling, and trouble moving the muscle. At first, treatment of both sprains and strains usually involves resting the injured area, icing it, wearing a bandage or device that compresses the area, and medicines. Later treatment might include exercise and physical therapy. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Nakajo-Nishimura syndrome appears to be rare and has been described only in the Japanese population. About 30 cases have been reported in the medical literature.
The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now referred to as CLN1). In the late infantile form (CLN2), a deficiency of an acid protease, an enzyme that hydrolyzes proteins, has been found as the cause of this condition. A mutated gene has been identified in juvenile Batten disease (CLN3), but the protein for which this gene codes has not been identified. In addition, research scientists are working with NCL animal models to improve understanding and treatment of these disorders. One research team, for example, is testing the usefulness of bone marrow transplantation in a sheep model, while other investigators are working to develop mouse models. Mouse models will make it easier for scientists to study the genetics of these diseases.
In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors may play a role in causing this disorder. Proposed environmental risk factors include viral infections, specific medications, and a disruption in blood flow to certain areas of the brain during critical periods of development. At least three genes have been associated with septo-optic dysplasia, although mutations in these genes appear to be rare causes of this disorder. The three genes, HESX1, OTX2, and SOX2, all play important roles in embryonic development. In particular, they are essential for the formation of the eyes, the pituitary gland, and structures at the front of the brain (the forebrain) such as the optic nerves. Mutations in any of these genes disrupt the early development of these structures, which leads to the major features of septo-optic dysplasia. Researchers are looking for additional genetic changes that contribute to septo-optic dysplasia.
Polymyositis is one of a group of muscle diseases known as the inflammatory myopathies, which are characterized by chronic muscle inflammation accompanied by muscle weakness. Polymyositis affects skeletal muscles (those involved with making movement) on both sides of the body. It is rarely seen in persons under age 18; most cases are in adults between the ages of 31 and 60. Progressive muscle weakness starts in the proximal muscles (muscles closest to the trunk of the body) which eventually leads to difficulties climbing stairs, rising from a seated position, lifting objects, or reaching overhead. People with polymyositis may also experience arthritis, shortness of breath, difficulty swallowing and speaking, and heart arrhythmias. In some cases of polymyositis, distal muscles (muscles further away from the trunk of the body, such as those in the forearms and around the ankles and wrists) may be affected as the disease progresses. Polymyositis may be associated with collagen-vascular or autoimmune diseases, such as lupus. Polymyositis may also be associated with infectious disorders, such as HIV-AIDS.
Is VLCAD deficiency inherited? VLCAD deficiency is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. 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.
The overall prognosis for individuals with AIDS in recent years has improved significantly because of new drugs and treatments. AIDS clinicians often fail to recognize neurological complications of AIDS. Those who suspect they are having neurological complications should be sure to discuss these with their doctor.
What are the signs and symptoms of Usher syndrome, type 1E? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1E. 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 areflexia - 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 prevalence of PRICKLE1-related progressive myoclonus epilepsy with ataxia is unknown. The condition has been reported in three large families from Jordan and northern Israel and in at least two unrelated individuals.
Researchers are still learning about broken heart syndrome, and no treatments have been shown to prevent it. For people who have experienced the condition, the risk of recurrence is low. An emotionally upsetting or serious physical event can trigger broken heart syndrome. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. Having supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, medicine, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program. Also, some of the ways people cope with stresssuch as drinking, smoking, or overeatingarent healthy. Learning to manage stress includes adopting healthy habits that will keep your stress levels low and make it easier to deal with stress when it does happen. A healthy lifestyle includes following a healthy diet, being physically active, maintaining a healthy weight, and quitting smoking.
More than 150 individuals with gyrate atrophy have been identified; approximately one third are from Finland.
These resources address the diagnosis or management of D-bifunctional protein deficiency: - Gene Review: Gene Review: Leukodystrophy Overview - Genetic Testing Registry: Bifunctional peroxisomal enzyme deficiency 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
The diagnosis of toxoplasmosis is typically made by serologic testing. A test that measures immunoglobulin G (IgG) is used to determine if a person has been infected. If it is necessary to try to estimate the time of infection, which is of particular importance for pregnant women, a test which measures immunoglobulin M (IgM) is also used along with other tests such as an avidity test. Diagnosis can be made by direct observation of the parasite in stained tissue sections, cerebrospinal fluid (CSF), or other biopsy material. These techniques are used less frequently because of the difficulty of obtaining these specimens. Parasites can also be isolated from blood or other body fluids (for example, CSF) but this process can be difficult and requires considerable time. Molecular techniques that can detect the parasite's DNA in the amniotic fluid can be useful in cases of possible mother-to-child (congenital) transmission. Ocular disease is diagnosed based on the appearance of the lesions in the eye, symptoms, course of disease, and often serologic testing.
3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have a shortage of an enzyme that helps break down proteins containing a particular building block (amino acid) called leucine. Infants with 3-MCC deficiency appear normal at birth but usually develop signs and symptoms in infancy or early childhood. The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can lead to delayed development, seizures, and coma. Many of these complications can be prevented with early detection and lifelong management with a low-protein diet and appropriate supplements. Some people with gene mutations that cause 3-MCC deficiency never experience any signs or symptoms of the condition. The characteristic features of 3-MCC deficiency are similar to those of Reye syndrome, a severe disorder that develops 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.
Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. Myelin, which lends its color to the white matter of the brain, is a complex substance made up of at least ten different chemicals. The leukodystrophies are a group of disorders that are caused by genetic defects in how myelin produces or metabolizes these chemicals. Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the chemicals. Specific leukodystrophies include metachromatic leukodystrophy, Krabb disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis. The most common symptom of a leukodystrophy disease is a gradual decline in an infant or child who previously appeared well. Progressive loss may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, and behavior. There is often a slowdown in mental and physical development. Symptoms vary according to the specific type of leukodystrophy, and may be difficult to recognize in the early stages of the disease.
Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. This mutation causes the FGFR3 protein to be overly active, which interferes with normal bone growth and allows the bones of the skull to fuse before they should.
These resources address the diagnosis or management of 1p36 deletion syndrome: - Gene Review: Gene Review: 1p36 Deletion Syndrome - Genetic Testing Registry: Chromosome 1p36 deletion 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
What causes multiple pterygium syndrome, Escobar type? Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene. There are likely other causes of this syndrome as well which have not yet been identified. As a result, in some cases the cause for the syndrome can not be determined. Escobar syndrome is usually inherited in an autosomal-recessive fashion.
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 many cases, an affected person has one parent with the condition.
These resources address the diagnosis or management of galactosialidosis: - Genetic Testing Registry: Combined deficiency of sialidase AND beta galactosidase - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Hydrops fetalis 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
The prevalence of multiple pterygium syndrome is unknown.
How is diabetic mastopathy treated? Diabetic mastopathy is a benign condition and should be managed as such. Patients should be advised about the condition and how to self examine the breasts. They should be advised that iif there are any changes in size and number of breast lumps that they should consult their breast team or general practitioner. Patients should be routinely followed up with MRI or ultrasound and core biopsy if the lesions become clinically or radiologically suspicious. Lesions can be excised for cosmetic reasons or if malignancy cannot be excluded. No followup is recommended when malignancy has been ruled out.
Rebleeding from a cavernous angioma is common, it is not predictable, and individuals frequently have multiple CCMs found via magnetic resonance imaging. Individuals with CCM are faced with a diagnosis that imparts risk of multiple future hemorrhages that occur seemingly at random and without any preventative therapy except surgical removal.
Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. The cloudiness, which generally first appears in adolescence or early adulthood, consists of small grayish dots of cholesterol (opacities) distributed across the corneas. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals; it aids in many functions of the body but can become harmful in excessive amounts. As fish-eye disease progresses, the corneal cloudiness worsens and can lead to severely impaired vision.
The optic nerve is a bundle of more than 1 million nerve fibers. It connects the retina to the brain.
Your soft tissues connect, support, or surround other tissues. Examples include your muscles, tendons, fat, and blood vessels. Soft tissue sarcoma is a cancer of these soft tissues. There are many kinds, based on the type of tissue they started in. They may cause a lump or swelling in the soft tissue. Sometimes they spread and can press on nerves and organs, causing problems such as pain or trouble breathing. No one knows exactly what causes these cancers. They are not common, but you have a higher risk if you have been exposed to certain chemicals, have had radiation therapy, or have certain genetic diseases. Doctors diagnose soft tissue sarcomas with a biopsy. Treatments include surgery to remove the tumor, radiation therapy, chemotherapy, or a combination. NIH: National Cancer Institute
Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed.
The main therapy for Parkinson's disease is the drug levodopa, also called L-dopa. It is a simple chemical found naturally in plants and animals. Nerve cells use levodopa to make dopamine to replenish the brain's supply. Levodopa helps to reduce tremors and other symptoms of Parkinson's disease during the early stages of the disease. It allows most people with Parkinson's to extend the period of time in which they can lead relatively normal, productive lives.
The worldwide prevalence of Darier disease is unknown. The prevalence of Darier disease is estimated to be 1 in 30,000 people in Scotland, 1 in 36,000 people in northern England, and 1 in 100,000 people in Denmark.
The NINDS conducts and supports research on injuries to the nervous system such as brachial plexus injuries. Much of this research is aimed at finding ways to prevent and treat these disorders.
Aseptic meningitis, encephalitis, or meningoencephalitis requires hospitalization and supportive treatment based on severity. Anti-inflammatory drugs, such as corticosteroids, may be considered under specific circumstances. Although studies have shown that ribavirin, a drug used to treat several other viral diseases, is effective against LCMV in vitro, there is no established evidence to support its routine use for treatment of LCM in humans.
What are the signs and symptoms of Genu valgum, st Helena familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Genu valgum, st Helena familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Genu valgum - 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 first step is to make sure the diagnosis is correct. For more information, patients should consult their health care provider. Health care providers may consult with CDC staff about the diagnosis and treatment of fascioliasis. The drug of choice is triclabendazole. In the United States, this drug is available through CDC, under a special (investigational) protocol. The drug is given by mouth, usually in one or two doses. Most people respond well to the treatment. More on: Resources for Health Professionals: Treatment
Pyruvate dehydrogenase deficiency is believed to be a rare condition; however, its prevalence is unknown.
CHMP2B-related frontotemporal dementia results from mutations in the CHMP2B gene. This gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it plays an essential role in transporting proteins that need to be broken down (degraded). Mutations in the CHMP2B gene lead to the production of an abnormal version of charged multivesicular body protein 2B. Most of the mutations that cause CHMP2B-related frontotemporal dementia result in the production of an abnormal protein that is missing a critical segment at one end. This segment keeps the protein turned off (inactive) when it is not needed. Without this segment, the protein is constantly turned on (active), which disrupts the transport and degradation of other proteins. These abnormalities ultimately lead to the death of nerve cells (neurons) in the brain. A gradual loss of neurons throughout the brain is characteristic of CHMP2B-related frontotemporal dementia. Many of the features of this disease result from neuronal death in regions near the front of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. It is unclear why the signs and symptoms of this disease are related primarily to the frontal and temporal lobes.
These resources address the diagnosis or management of cystinosis: - Cystinosis Research Foundation: Treatment - Cystinosis Research Network: Symptoms and Treatment - Gene Review: Gene Review: Cystinosis - Genetic Testing Registry: Cystinosis - Genetic Testing Registry: Cystinosis, ocular nonnephropathic - Genetic Testing Registry: Juvenile nephropathic cystinosis - MedlinePlus Encyclopedia: Fanconi Syndrome - MedlinePlus Encyclopedia: Photophobia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
What causes celiac artery compression syndrome? The cause of celiac artery syndrome is disputed. While it was initially thought to be caused by a restriction of blood supply secondary to compression of the celiac artery (supplies blood to the upper abdominal organs) by the median arcuate ligament (a muscular fibrous band of the diaphragm), other factors have been proposed. It has been suggested that nerve dysfunction might additionally be involved, which could explain some of the associated symptoms such as pain and delayed gastric emptying.
All cases of megalencephalic leukoencephalopathy with subcortical cysts caused by mutations in the MLC1 gene (type 1) and some cases caused by mutations in the HEPACAM gene (type 2A) are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of a 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. Megalencephalic leukoencephalopathy with subcortical cysts type 2B is inherited in an autosomal dominant pattern, which means one copy of the altered HEPACAM gene in each cell is sufficient to cause the disorder. Most cases of type 2B result from new (de novo) mutations in the HEPACAM gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Tardive dyskinesia is a neurological syndrome caused by the long-term use of neuroleptic drugs. Neuroleptic drugs are generally prescribed for psychiatric disorders, as well as for some gastrointestinal and neurological disorders. Tardive dyskinesia is characterized by repetitive, involuntary, purposeless movements. Features of the disorder may include grimacing, tongue protrusion, lip smacking, puckering and pursing, and rapid eye blinking. Rapid movements of the arms, legs, and trunk may also occur. Involuntary movements of the fingers may be present.
These resources address the diagnosis or management of pyridoxine-dependent epilepsy: - Gene Review: Gene Review: Pyridoxine-Dependent Epilepsy - Genetic Testing Registry: Pyridoxine-dependent epilepsy - MedlinePlus Encyclopedia: Generalized tonic-clonic seizure 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 adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland. While ACC appears to generally be sporadic (occurring in people with no family history of ACC), there has been speculation about a possible linkage between salivary gland cancers in general and inherited BRCA gene mutations. However, this potential link needs further investigation. There has also been one report of a case of ACC of the salivary gland occurring in a person with basal cell nevus syndrome, a hereditary syndrome known to predispose affected people to a very wide range of tumors.
How might intervertebral disc disease be treated? In the absence of red flags, the initial approach to treatment is typically conservative and includes physical therapy and pain medications. In 90% of affected individuals, acute attacks of sciatica usually improve within 4 to 6 weeks without surgical intervention. In cases where surgical intervention is necessary, surgical procedures may include discectomy or spinal fusion.
Pachyonychia congenita is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of all cases, an affected person inherits the mutation from one affected parent. The other half of cases result from a new (de novo) mutation in the gene that occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Many people enjoy gambling, whether it's betting on a horse or playing poker on the Internet. Most people who gamble don't have a problem, but some lose control of their gambling. Signs of problem gambling include - Always thinking about gambling - Lying about gambling - Spending work or family time gambling - Feeling bad after you gamble, but not quitting - Gambling with money you need for other things If you have concerns about your gambling, ask for help. Your health care provider can work with you to find the treatment that's best for you. NIH: National Institutes of Health
This condition is generally not inherited but arises from a mutation in the body's cells that occurs after conception. This alteration is called a somatic mutation. A somatic mutation in one copy of the NRAS or BRAF gene is sufficient to cause this disorder.
Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the skin make melanin. When these cells become damaged or unhealthy, it affects melanin production. Some pigmentation disorders affect just patches of skin. Others affect your entire body. If your body makes too much melanin, your skin gets darker. Pregnancy, Addison's disease, and sun exposure all can make your skin darker. If your body makes too little melanin, your skin gets lighter. Vitiligo is a condition that causes patches of light skin. Albinism is a genetic condition affecting a person's skin. A person with albinism may have no color, lighter than normal skin color, or patchy missing skin color. Infections, blisters and burns can also cause lighter skin.
While childbirth usually goes well, complications can happen. They can cause a risk to the mother, baby, or both. Possible complications include - Preterm (premature) labor, when labor starts before 37 completed weeks of pregnancy - Problems with the umbilical cord - Problems with the position of the baby, such as breech, in which the baby is going to come out feet first - Birth injuries For some of these problems, the baby may need to be delivered surgically by a Cesarean section.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. However, in rare cases, people who inherit an altered gene do not have enlarged parietal foramina. (This situation is known as reduced penetrance.)
Multicentric reticulohistiocytosis is a disease that is characterized by the presence of papules and nodules and associated with arthritis mutilans. The disease can involve the skin, the bones, the tendons, the muscles, the joints, and nearly any other organ (e.g., eyes, larynx, thyroid, salivary glands, bone marrow, heart, lung, kidney, liver, gastrointestinal tract). In the majority of cases, the cause of multicentric reticulohistiocytosis is unknown; however, it has been associated with an underlying cancer in about one fourth of cases, suggesting that it may be a paraneoplastic syndrome.
Kidney failure, also called end-stage kidney disease or ESRD, means your kidneys no longer work well enough to do their job. You will need treatment to replace the work your kidneys have stopped doing.
A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. "Mini-strokes" or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted. Symptoms of stroke are - Sudden numbness or weakness of the face, arm or leg (especially on one side of the body) - Sudden confusion, trouble speaking or understanding speech - Sudden trouble seeing in one or both eyes - Sudden trouble walking, dizziness, loss of balance or coordination - Sudden severe headache with no known cause If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke. NIH: National Institute of Neurological Disorders and Stroke
A hiccup is an unintentional movement of the diaphragm, the muscle at the base of the lungs. It's followed by quick closing of the vocal cords, which produces the "hic" sound you make. There are a large number of causes, including large meals, alcohol, or hot and spicy foods. Hiccups may also start and stop for no obvious reason. There is no sure way to stop hiccups. You can try - Breathing into a paper bag - Drinking or sipping a glass of cold water - Holding your breath Hiccups aren't usually serious. Contact your health care provider if they last for more than a few days.
These resources address the diagnosis or management of cherubism: - Gene Review: Gene Review: Cherubism - Genetic Testing Registry: Fibrous dysplasia of jaw 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
Rheumatoid arthritis is characterized by inflammation of the joint lining. This inflammation causes warmth, redness, swelling, and pain around the joints. The pain of rheumatoid arthritis varies greatly from person to person, for reasons that doctors do not yet understand completely. Factors that contribute to the pain include swelling within the joint, the amount of heat or redness present, or damage that has occurred within the joint.
Taking action to control your risk factors can help prevent or delay a stroke. If youve already had a stroke, these actions can help prevent another one. Be physically active. Physical activity can improve your fitness level and health. Talk with your doctor about what types and amounts of activity are safe for you. Dont smoke, or if you smoke or use tobacco, quit. Smoking can damage and tighten blood vessels and raise your risk of stroke. Talk with your doctor about programs and products that can help you quit. Also, secondhand smoke can damage the bloodvessels. Maintain a healthy weight. If youre overweight or obese, work with your doctor to create a reasonable weight loss plan. Controlling your weight helps you control risk factors for stroke. Make heart-healthy eating choices. Heart-healthy eating can help lower your risk or prevent a stroke. Manage stress. Use techniques to lower your stress levels. If you or someone in your family has had a stroke, be sure to tell your doctor. By knowing your family history of stroke, you may be able to lower your risk factors and prevent or delay a stroke. If youve had a transient ischemic attack (TIA), dont ignore it. TIAs are warnings, and its important for your doctor to find the cause of the TIA so you can take steps to prevent a stroke.
How might Ledderhose disease be treated? There is little evidence regarding the effectiveness of specific treatment approaches for Ledderhose disease. Initial treatment approach may invovle regular (monthly or less often) glucocorticoid injection and soft shoe inserts with cutouts for the nodules. Surgery, such as selective fasciectomy or dermofasciectomy, has been used as treatment of people who do not respond to initial therapy. Recurrence following surgery is common. Collagenase injection is an additional therapy which has been used with variable sucess. Our search identified one case report describing the use of "upper lateral arm flaps" on the feet of two brother's who had multiple recurrences following other procedures. The reference for this article is provided below. Kan HJ, Hovius SE. Long-term follow-up of flaps for extensive Dupuytren's and Ledderhose disease in one family. J Plast Reconstr Aesthet Surg. 2012 December;65(12):1741-5. The International Dupyytren Society provides futher information on treatment options for Ledderhose disease at the following link: http://www.dupuytren-online.info/ledderhose_therapies.html We strongly recommend that you review this information with your healthcare providers. Only a healthcare provider can help you make decisions regarding which treatment approach may be best for you.
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 would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
In most cases, an autoimmune response is thought to cause immune thrombocytopenia (ITP). Normally, your immune system helps your body fight off infections and diseases. In ITP, however, your immune system attacks and destroys your body's platelets by mistake. Why this happens isn't known. In some people, ITP may be linked to viral or bacterial infections, such as HIV, hepatitis C, or H. pylori. Children who have acute (short-term) ITP often have had recent viral infections. These infections may "trigger" or set off the immune reaction that leads to ITP.
These resources address the diagnosis or management of Cowden syndrome: - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS) - Genetic Testing Registry: Cowden syndrome - Genetic Testing Registry: Cowden syndrome 1 - Genetic Testing Registry: Cowden syndrome 2 - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes - University of Iowa: Are Tests for Cowden Syndrome Available? - University of Iowa: How is Cowden Syndrome Diagnosed? - University of Iowa: What Should I Be Doing About This Condition? 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
Coronary microvascular disease can affect both men and women. However, women may be at risk for coronary microvascular disease if they have lower than normal levels of estrogen at any point in their adult lives. (This refers to the estrogen that the ovaries produce, not the estrogen used in hormone therapy.) Low estrogen levels before menopause can raise younger womens risk for the disease. Causes of low estrogen levels in younger women can be mental stress or a problem with the function of theovaries. The causes of coronary microvascular disease and atherosclerosis are also considered risk factors for the disease.
In many cases, RAS has no symptoms until it becomes severe. The signs of RAS are usually either high blood pressure or decreased kidney function, or both, but RAS is often overlooked as a cause of high blood pressure. RAS should be considered as a cause of high blood pressure in people who - are older than age 50 when they develop high blood pressure or have a marked increase in blood pressure - have no family history of high blood pressure - cannot be successfully treated with at least three or more different types of blood pressure medications Symptoms of a significant decrease in kidney function include - increase or decrease in urination - edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face - drowsiness or tiredness - generalized itching or numbness - dry skin - headaches - weight loss - appetite loss - nausea - vomiting - sleep problems - trouble concentrating - darkened skin - muscle cramps
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited condition that affects the way signals are passed between certain cells in the nervous system. Individuals affected by this condition often have severe movement disorders, abnormal eye movements, autonomic symptoms, and neurological impairment. The condition is caused by mutations in the DDC gene. It is inherited in an autosomal recessive pattern. Treatment includes a variety of medications which may result in varying levels of success in individual patients. Physical, occupational, and speech therapy may also be of benefit.
Intestinal pseudo-obstruction is a rare condition with symptoms that resemble those caused by a blockage, or obstruction, of the intestines, also called the bowel. However, when a health care provider examines the intestines, no blockage exists. Instead, the symptoms are due to nerve or muscle problems that affect the movement of food, fluid, and air through the intestines. The intestines are part of the gastrointestinal (GI) tract and include the small intestine and the large intestine. The small intestine is the organ where most digestion occurs. The small intestine measures about 20 feet and includes the - duodenum, the first part of the small intestine - jejunum, the middle section of the small intestine - ileum, the lower end of the small intestine The large intestine absorbs water from stool and changes it from a liquid to a solid form, which passes out of the body during a bowel movement. The large intestine measures about 5 feet and includes the - cecum, the first part of the large intestine, which is connected to the ileum - colon, the part of the large intestine extending from the cecum to the rectum - rectum, the lower end of the large intestine leading to the anus
Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger. Unlike other types of ALS, juvenile ALS is not rapidly progressive. People with juvenile ALS can have a normal life expectancy. Juvenile ALS is often genetic and may be inherited in an autosomal dominant or autosomal recessive fashion.
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of - 119/79 or lower is normal blood pressure - 140/90 or higher is high blood pressure - Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. NIH: National Heart, Lung, and Blood Institute
How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, speech, breathing and your ability to swallow. Broken bones, especially the bones of your nose, cheekbone and jaw, are common facial injuries. Certain diseases also lead to facial disorders. For example, nerve diseases like trigeminal neuralgia or Bell's palsy sometimes cause facial pain, spasms and trouble with eye or facial movement. Birth defects can also affect the face. They can cause underdeveloped or unusually prominent facial features or a lack of facial expression. Cleft lip and palate are a common facial birth defect.
Familial isolated hyperparathyroidism (FIHP) is an inherited form of primary hyperparathyroidism that is not associated with other features. The age of diagnosis varies from childhood to adulthood. In FIHP, tumors involving the parathyroid glands cause the production and release of excess parathyroid hormone, which in turn causes increased calcium in the blood (hypercalcemia). The tumors are usually benign, but a cancerous tumor can develop in rare cases. Abnormal levels of calcium cause many of the symptoms of FIHP, including kidney stones, nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Osteoporosis often also develops. FIHP may be caused by mutations in the MEN1, CDC73 (also known as the HRPT2 gene), or CASR genes and is typically inherited in an autosomal dominant manner. In some cases, the cause is unknown. Mutations in the MEN1 and CDC73 genes cause other conditions in which hyperparathyroidism is one of many features, but some people with mutations in these genes have only isolated hyperparathyroidism. FIHP can also represent an early stage of other syndromes. Treatment for FIHP often includes surgical removal of the affected gland(s).
Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. The weakening of the heart's pumping ability causes - Blood and fluid to back up into the lungs - The buildup of fluid in the feet, ankles and legs - called edema - Tiredness and shortness of breath Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women. Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail. NIH: National Heart, Lung, and Blood Institute
These resources address the diagnosis or management of abetalipoproteinemia: - Genetic Testing Registry: Abetalipoproteinaemia - MedlinePlus Encyclopedia: Bassen-Kornzweig syndrome - MedlinePlus Encyclopedia: Malabsorption - MedlinePlus Encyclopedia: Retinitis pigmentosa - MedlinePlus Encyclopedia: Stools - floating 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 pancreatitis is thought to be a rare condition. In Europe, its prevalence is estimated to be 3 to 6 per million individuals.
Melanoma is the fastest growing and most invasive type of skin cancer. This cancer arises from overgrowth of melanocytes. Melanocytes are specialized skin cells that produce a pigment called melanin.
What causes hereditary lymphedema type II? The cause of hereditary lymphedema type II is unknown. The condition is thought to be genetic because it tends to run in families. Researchers have studied many genes associated with the lymphatic system; however, to date, no specific genetic change has been associated with this type of lymphedema.
Cerebral arteriosclerosis can lead to life threatening health events such as ischemic or hemorrhagic strokes. People who survive stroke may have long-term neurological and motor impairments.
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision. Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). Although the vision loss is permanent, it does not worsen over time. Other eye abnormalities associated with this condition include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain. Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. The most common form of ocular albinism is known as the Nettleship-Falls type or type 1. Other forms of ocular albinism are much rarer and may be associated with additional signs and symptoms, such as hearing loss.
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.
How is intellectual disability-developmental delay-contractures syndrome inherited? Intellectual disability-developmental delay-contractures syndrome syndrome is inherited in an X-linked recessive manner and is caused by mutations in the ZC4H2 gene. A condition is considered X-linked if the gene with the mutation that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. As such, males are affected by X-linked recessive disorders much more frequently than females. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Rarely, female carriers of a ZC4H2 gene mutation have been reported to exhibit mild symptoms.
Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life. People with this condition usually experience symptoms after cold exposure of an hour or more, although in some individuals only a few minutes of exposure is required. Symptoms may be delayed for up to a few hours after the cold exposure. Episodes last an average of 12 hours, but may continue for up to 3 days. In people with familial cold autoinflammatory syndrome, the most common symptom that occurs during an episode is an itchy or burning rash. The rash usually begins on the face or extremities and spreads to the rest of the body. Occasionally swelling in the extremities may occur. In addition to the skin rash, episodes are characterized by fever, chills, and joint pain, most often affecting the hands, knees, and ankles. Redness in the whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and nausea may also occur during an episode of this disorder.
In many cases, treatment is effective in completely or partially controlling lupus nephritis, resulting in few, if any, further complications. However, even with treatment, 10 to 30 percent of people with lupus nephritis develop kidney failure, described as end-stage renal disease when treated with blood-filtering treatments called dialysis or a kidney transplant.3 Scientists cannot predict who will or will not respond to treatment. The most severe form of lupus nephritis is called diffuse proliferative nephritis. With this type of illness, the kidneys are inflamed, many white blood cells invade the kidneys, and kidney cells increase in number, which can cause such severe damage that scars form in the kidneys. Scars are difficult to treat, and kidney function often declines as more scars form. People with suspected lupus nephritis should get diagnosed and treated as early as possible to prevent such chronic, or long lasting, damage. People with lupus nephritis are at a high risk for cancer, primarily B-cell lymphomaa type of cancer that begins in the cells of the immune system. They are also at a high risk for heart and blood vessel problems.
What causes Swyer-James syndrome? The cause of Swyer-James syndrome is not completely understood. Most experts agree that the initial abnormality occurs in the distal bronchi (air tubes that bring air to and from the lungs) after an infection during early childhood. The smaller size of the affected lung may be due to the infection inhibiting the normal growth of the lung. A number of reports have described Swyer-James syndrome following childhood histories including radiation therapy; measles; pertussis (whooping cough); tuberculosis; breathing in a foreign body; mycoplasma; and viral infections, especially adenovirus. Research has suggested that a hyper-immune reaction in the lung (producing an unusual abundance of antibodies) may play a role in sustaining airway damage after the initial infection. Some have argued a pre-existing lung abnormality may predispose individuals to the condition. Although bronchial damage of some kind during childhood is generally considered to play an important role, many affected individuals have had no known history of an airway infection. It is possible that some unknown factors present at birth may contribute to the development of Swyer-James syndrome.
Carbon monoxide (CO) is a gas that has no odor or color. But it is very dangerous. It can cause sudden illness and death. CO is found in combustion fumes, such as those made by cars and trucks, lanterns, stoves, gas ranges and heating systems. CO from these fumes can build up in places that don't have a good flow of fresh air. You can be poisoned by breathing them in. The most common symptoms of CO poisoning are - Headache - Dizziness - Weakness - Nausea - Vomiting - Chest pain - Confusion It is often hard to tell if someone has CO poisoning, because the symptoms may be like those of other illnesses. People who are sleeping or intoxicated can die from CO poisoning before they have symptoms. A CO detector can warn you if you have high levels of CO in your home. Centers for Disease Control and Prevention
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid gland is not active enough, it does not make enough thyroid hormone to meet your body's needs. This condition is hypothyroidism. Hypothyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Hashimoto's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, congenital hypothyroidism, surgical removal of part or all of the thyroid, radiation treatment of the thyroid, and some medicines. The symptoms can vary from person to person. They may include - Fatigue - Weight gain - A puffy face - Cold intolerance - Joint and muscle pain - Constipation - Dry skin - Dry, thinning hair - Decreased sweating - Heavy or irregular menstrual periods and fertility problems - Depression - Slowed heart rate To diagnose hypothyroidism, your doctor will look at your symptoms and blood tests. Treatment is with synthetic thyroid hormone, taken every day. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Summary : Club drugs are group of psychoactive drugs. They act on the central nervous system and can cause changes in mood, awareness, and how you act. These drugs are often abused by young adults at all-night dance parties, dance clubs, and bars. They include - Methylenedioxymethamphetamine (MDMA), also known as Ecstasy XTC, X, E, Adam, Molly, Hug Beans, and Love Drug - Gamma-hydroxybutyrate (GHB), also known as G, Liquid Ecstasy, and Soap - Ketamine, also known as Special K, K, Vitamin K, and Jet - Rohypnol, also known as Roofies - Methamphetamine, also known as Speed, Ice, Chalk, Meth, Crystal, Crank, and Glass - Lysergic Acid Diethylamide (LSD), also known as Acid, Blotter, and Dots Some of these drugs are approved for certain medical uses. Other uses of these drugs are abuse. Club drugs are also sometimes used as "date rape" drugs, to make someone unable to say no to or fight back against sexual assault. Abusing these drugs can cause serious health problems and sometimes death. They are even more dangerous if you use them with alcohol. NIH: National Institute on Drug Abuse
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of glutaric acidemia type II: - Baby's First Test - Genetic Testing Registry: Glutaric aciduria, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of 3-methylglutaconyl-CoA hydratase deficiency: - Baby's First Test - Genetic Testing Registry: 3-Methylglutaconic aciduria - MedlinePlus Encyclopedia: Metabolic Acidosis 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
Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered PRNP gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, familial forms of prion disease are caused by a new mutation in the gene that occurs during the formation of a parent's reproductive cells (eggs or sperm) or in early embryonic development. Although such people do not have an affected parent, they can pass the genetic change to their children. The sporadic, acquired, and iatrogenic forms of prion disease, including kuru and variant Creutzfeldt-Jakob disease, are not inherited.
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
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.
Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go from very happy, "up," and active to very sad and hopeless, "down," and inactive, and then back again. They often have normal moods in between. The up feeling is called mania. The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in families. Abnormal brain structure and function may also play a role. Bipolar disorder often starts in a person's late teen or early adult years. But children and adults can have bipolar disorder too. The illness usually lasts a lifetime. If you think you may have it, tell your health care provider. A medical checkup can rule out other illnesses that might cause your mood changes. If not treated, bipolar disorder can lead to damaged relationships, poor job or school performance, and even suicide. However, there are effective treatments to control symptoms: medicine and talk therapy. A combination usually works best. NIH: National Institute of Mental Health
There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. Reconstructive or microvascular surgery may be needed to repair wasted tissue. The timing of surgical intervention is generally agreed to be the best following exhaustion of the disease course and completion of facial growth. Most surgeons will recommend a waiting period of one or two years before proceeding with reconstruction. Muscle or bone grafts may also be helpful. Other treatment is symptomatic and supportive.
What causes non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency? Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is caused by changes (mutations) in the CYP21A2 gene. This gene provides instructions for making an enzyme called 21-hydroxylase, which is found in the adrenal glands. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in CYP21A2 lead to deficient levels of 21-hydroxylase which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of NCAH. The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. People with NCAH have CYP21A2 mutations that result in the production of reduced amounts of the enzyme, but more enzyme than the classic form of congenital adrenal hyperplasia.
Isolated ectopia lentis (IEL) is a genetic disorder that affects the positioning of the lens in the eyes. In individuals with IEL, the lens in one or both of the eyes is off-center. Symptoms of IOL usually present in childhood and may include vision problems such as nearsightedness (myopia), blurred vision (astigmatism), clouding of the lenses (cataracts), and increased pressure in the eyes (glaucoma). In some individuals, IEL can progress to retinal detachment (tearing of the back lining of the eye). IEL is caused by mutations in either the FBN1 or ADAMTSL4 gene. When caused by a mutation in the FBN1 gene, IEL is inherited in an autosomal dominant manner. When caused by a mutation in the ADAMTSL4 gene, IEL is inherited in an autosomal recessive manner. The primary goal of treatment is preventing amblyopia (lazy eye) through early correction of astigmatism. Surgical intervention including lensectomy (removal of the lens) may be considered in cases where vision is significantly affected.
Langer-Giedion syndrome is a rare condition; its incidence is unknown.

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