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VMCM appears to be a rare disorder, although its prevalence is unknown.
Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence.
What are the signs and symptoms of Negative rheumatoid factor polyarthritis? The Human Phenotype Ontology provides the following list of signs and symptoms for Negative rheumatoid factor polyarthritis. 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) Autoimmune antibody positivity - 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.
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.
Gillespie syndrome can be caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in early development, including the development of the eyes and brain. The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor. Mutations in the PAX6 gene result in the absence of the PAX6 protein or production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. This lack of functional protein disrupts embryonic development, especially the development of the eyes and brain, leading to the signs and symptoms of Gillespie syndrome. Most people with Gillespie syndrome do not have mutations in the PAX6 gene. In these affected individuals, the cause of the disorder is unknown.
Some individuals with dysgraphia improve their writing ability, but for others, the disorder persists.
Globozoospermia is a rare form of male infertility. Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with globozoospermia have changes (mutations) in the DPY19L2 gene, which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia. Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.
3MC syndrome is a rare disorder; its exact prevalence is unknown.
Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. Some cases are caused by mutations in the APCDD1 gene on chromosome 18p11. To date, there is no treatment for this condition.
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.
Age, gender, and Epstein-Barr infection can affect the risk of adult Hodgkin lymphoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for adult Hodgkin lymphoma include the following: - Being in young or late adulthood. - Being male. - Being infected with the Epstein-Barr virus. - Having a first-degree relative (parent, brother, or sister) with Hodgkin lymphoma. Pregnancy is not a risk factor for Hodgkin lymphoma.
Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis. Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. When it does occur, it is usually caused by an underlying medical disorder or by medications used to treat the disorder. This is called secondary osteoporosis. Sometimes, however, there is no identifiable cause of osteoporosis in a child. This is known as idiopathic osteoporosis. There is no established medical or surgical therapy for juvenile osteoporosis. In some cases, treatment is not necessary, as the condition resolves spontaneously. Early diagnosis may allow for preventive steps, including physical therapy, avoidance of weight-bearing activities, use of crutches and other supportive care. A well-balanced diet rich in calcium and vitamin D is also important. In severe, long-lasting cases, medications such as bisphosphonates may be used. In most cases, complete recovery of bone occurs.
What are the signs and symptoms of Hypomagnesemia 2, renal? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 2, renal. 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 - Hypomagnesemia - Renal magnesium wasting - Seizures - 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 classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is estimated to be 1 in 1,000 individuals. The prevalence of both classic and non-classic forms varies among different ethnic populations. 21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia.
Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and symptoms may include lactic acidosis shortly after birth; hypotonia and lethargy in infancy; feeding difficulties; seizures; and various other health issues. Liver problems can range from hepatomegaly to life-threatening liver failure. Symptoms often occur in episodes that may be triggered by illness or other stresses on the body. Many affected infants do not survive the first few years of life; those who survive through early childhood often have growth delay and intellectual disability. Some with onset later in childhood may have neurological dysfunction with normal cognitive development. DLD deficiency is caused by mutations in the DLD gene and is inherited in an autosomal recessive manner.
These resources address the diagnosis or management of hereditary paraganglioma-pheochromocytoma: - Gene Review: Gene Review: Hereditary Paraganglioma-Pheochromocytoma Syndromes - Genetic Testing Registry: Paragangliomas 1 - Genetic Testing Registry: Paragangliomas 2 - Genetic Testing Registry: Paragangliomas 3 - Genetic Testing Registry: Paragangliomas 4 - MedlinePlus Encyclopedia: Pheochromocytoma - National Cancer Institute: Pheochromocytoma and Paraganglioma 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 neuralgic amyotrophy is a rare disorder, but its specific prevalence is unknown. Approximately 200 families affected by the disorder have been identified worldwide.
Weaver syndrome is usually caused by mutations in the EZH2 gene. The EZH2 gene provides instructions for making a type of enzyme called a histone methyltransferase. Histone methyltransferases modify proteins called histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (methylation), histone methyltransferases can turn off the activity of certain genes, which is an essential process in normal development. It is unclear how mutations in the EZH2 gene result in the abnormalities characteristic of Weaver syndrome.
Men who have perineal surgery are most likely to have an acute perineal injury. Straddle injuries are most common among people who ride motorcycles, bikes, or horses and children who use playground equipment. Impalement injuries are most common in military personnel engaged in combat. Impalement injuries can also occur in construction or farm workers. Chronic perineal injuries are most common in people who ride bikes as part of a job or sport, or in people with constipation.
Genitopatellar syndrome is caused by mutations in the KAT6B gene. This gene provides instructions for making a type of enzyme called a histone acetyltransferase. These enzymes modify histones, which are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a small molecule called an acetyl group to histones, histone acetyltransferases control the activity of certain genes. Little is known about the function of the histone acetyltransferase produced from the KAT6B gene. It appears to regulate genes that are important for early development, including development of the skeleton and nervous system. The mutations that cause genitopatellar syndrome occur near the end of the KAT6B gene and lead to the production of a shortened histone acetyltransferase enzyme. Researchers suspect that the shortened enzyme may function differently than the full-length version, altering the regulation of various genes during early development. However, it is unclear how these changes lead to the specific features of genitopatellar syndrome.
Complications of urinary retention and its treatments may include - UTIs - bladder damage - kidney damage - urinary incontinence after prostate, tumor, or cancer surgery UTIs. Urine is normally sterile, and the normal flow of urine usually prevents bacteria from infecting the urinary tract. With urinary retention, the abnormal urine flow gives bacteria at the opening of the urethra a chance to infect the urinary tract. Bladder damage. If the bladder becomes stretched too far or for long periods, the muscles may be permanently damaged and lose their ability to contract. Kidney damage. In some people, urinary retention causes urine to flow backward into the kidneys. This backward flow, called reflux, may damage or scar the kidneys. Urinary incontinence after prostate, tumor, or cancer surgery. Transurethral surgery to treat benign prostatic hyperplasia may result in urinary incontinence in some men. This problem is often temporary. Most men recover their bladder control in a few weeks or months after surgery. Surgery to remove tumors or cancerous tissue in the bladder, prostate, or urethra may also result in urinary incontinence.
MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then remove regions called introns to help produce mature mRNA molecules. EFTUD2 gene mutations that cause MFDM result in the production of little or no functional enzyme from one copy of the gene in each cell. A shortage of this enzyme likely impairs mRNA processing. The relationship between these mutations and the specific symptoms of MFDM is not well understood.
What are the signs and symptoms of Paroxysmal ventricular fibrillation? The Human Phenotype Ontology provides the following list of signs and symptoms for Paroxysmal ventricular fibrillation. 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) Ventricular fibrillation - 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.
People can't change the genes they inherit from their parents, but they can change other things to prevent diseases that run in the family. This is good news because many diseases result from a combination of a person's genes, lifestyle, and environment. Actions to reduce the risk of disease may involve lifestyle changes, such as eating healthier foods, exercising more, getting certain medical tests, and taking medicines that are more effective based on your specific genes. Ask your doctor or health care professional for advice.
These resources address the diagnosis or management of Sjgren-Larsson syndrome: - Genetic Testing Registry: Sjgren-Larsson 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
- Anemia is a condition in which a person has a lower than normal number of red blood cells or the amount of hemoglobin in the red blood cells drops below normal, which prevents the bodys cells from getting enough oxygen. - Anemia of inflammation and chronic disease (AI/ACD) is a type of anemia that commonly occurs with chronic illnesses, infections, cancer, or inflammatory disorders. - AI/ACD typically develops slowly and, because it is usually mild, may cause few or no symptoms. Sometimes, AI/ACD can cause or contribute to fatigue, weakness, pale skin, a fast heartbeat, shortness of breath, and exercise intolerance. - To diagnose AI/ACD, a health care provider orders a blood test called a complete blood count (CBC). - AI/ACD often is not treated separately from the condition with which it occurs. In general, health care providers focus on treating the underlying illness.
Congenital leptin deficiency is a rare disorder. Only a few dozen cases have been reported in the medical literature.
Mutations in the SPG7 gene cause spastic paraplegia type 7. The SPG7 gene provides instructions for producing a protein called paraplegin. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. The m-AAA protease is responsible for assembling ribosomes (cellular structures that process the cell's genetic instructions to create proteins) and removing nonfunctional proteins in the mitochondria. When there is a mutation in paraplegin, the m-AAA protease cannot function correctly. Nonfunctional m-AAA proteases cause a build up of unusable proteins in the mitochondria of nerve cells, which can result in swelling of the cell, reduced cell signaling, and impaired cell movement, leading to the major signs and symptoms of spastic paraplegia type 7.
Mutations in the PPT1 gene cause most cases of infantile NCL. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats called long-chain fatty acids from proteins, which probably helps break down the proteins. Palmitoyl-protein thioesterase 1 is also thought to be involved in a variety of other cell functions. PPT1 gene mutations that cause infantile NCL decrease the production or function of palmitoyl-protein thioesterase 1. A shortage of functional enzyme impairs the removal of fatty acids from proteins. In the lysosomes, these fats and proteins accumulate as fatty substances called lipopigments. These accumulations occur in cells throughout the body, but nerve cells in the brain seem to be particularly vulnerable to the damage caused by buildup of lipopigments and the loss of enzyme function. The progressive death of cells, especially in the brain, leads to the signs and symptoms of infantile NCL.
Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 to 1 in 40,000 people.
Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should. There are three main types of amyloidosis: - Primary - with no known cause - Secondary - caused by another disease, including some types of cancer - Familial - passed down through genes Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.
These resources address the diagnosis or management of UV-sensitive syndrome: - Genetic Testing Registry: UV-sensitive syndrome - Genetic Testing Registry: UV-sensitive syndrome 2 - Genetic Testing Registry: UV-sensitive syndrome 3 - Merck Manual Home Health Edition: Sunburn - World Health Organization: Sun Protection These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. The CPS1 gene provides instructions for making the enzyme carbamoyl phosphate synthetase I. This enzyme participates in the urea cycle, which is a sequence of biochemical reactions that occurs in liver cells. The urea cycle processes excess nitrogen, generated when protein is broken down by the body, to make a compound called urea that is excreted by the kidneys. The specific role of the carbamoyl phosphate synthetase I enzyme is to control the first step of the urea cycle, a reaction in which excess nitrogen compounds are incorporated into the cycle to be processed. Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. In this condition, the carbamoyl phosphate synthetase I enzyme is at low levels (deficient) or absent, and the urea cycle cannot proceed normally. As a result, nitrogen accumulates in the bloodstream in the form of toxic ammonia instead of being converted to less toxic urea and excreted. Ammonia is especially damaging to the brain, and excess ammonia causes neurological problems and other signs and symptoms of carbamoyl phosphate synthetase I deficiency.
You have three treatment options to choose from to filter your blood. A fourth option offers care without replacing the work of the kidneys. None of these treatments helps the kidneys get better. However, they all can help you feel better. - Hemodialysis uses a machine to move your blood through a filter outside your body, removing wastes. - Peritoneal dialysis uses the lining of your belly to filter your blood inside your body, removing wastes. - Kidney transplantation is surgery to place a healthy kidney from a person who has just died or a living person, usually a family member, into your body to take over the job of filtering your blood. - Conservative management is the choice not to treat kidney failure with dialysis or a transplant. Instead, the focus is on using medicines to keep you comfortable, preserving kidney function through diet, and treating the problems of kidney failure, such as anemiaa shortage of red blood cells that can make you tiredand weak bones.
Infection with HIV is serious. But the outlook for people with HIV/AIDS is improving. If you are infected with HIV, there are many things you can do to help ensure you have a longer, healthier life. One important thing is to take your medicines. Make sure you have a health care provider who knows how to treat HIV. You may want to join a support group. Learn as much as you can about your disease and its treatment. And eat healthy foods and exercise regularly - things that everyone should try to do.
Progressive osseous heteroplasia is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions. The protein produced from the GNAS gene is believed to play a key role in signaling pathways that help regulate the development of bone (osteogenesis), preventing bony tissue from being produced outside the skeleton. The GNAS gene mutations that cause progressive osseous heteroplasia disrupt the function of the G protein and impair its ability to regulate osteogenesis. As a result, bony tissue grows outside the skeleton and causes the complications associated with this disorder.
What are the signs and symptoms of Cone-rod dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Nyctalopia 90% Photophobia 90% Abnormality of color vision 50% Visual impairment 7.5% 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.
Nephrocalcinosis is a disorder in which there is excess calcium deposited in the kidneys. It is relatively common in premature infants. Individuals may be asymptomatic or have symptoms related to the condition causing nephrocalcinosis. If kidney stones are present, an individual may have blood in the urine; fever and chills; nausea and vomiting; or severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms related to nephrocalcinosis may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements; infection; or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome, and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. The goal of treatment is to reduce symptoms and prevent more calcium from being deposited in the kidneys.
Giant axonal neuropathy is a very rare disorder; the incidence is unknown.
Neuroferritinopathy is a disorder in which iron gradually accumulates in the brain. Certain brain regions that help control movement (basal ganglia) are particularly affected. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more apparent on one side of the body than on the other. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is unaffected in most people with neuroferritinopathy, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses.
Mutations in the FGFR2 gene cause Crouzon syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene probably overstimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.
When EA/TEF occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition. Often EA/TEF is not inherited, and there is only one affected individual in a family.
Summary : The products you use for cleaning, carpentry, auto repair, gardening, and many other household uses can contain ingredients that can harm you, your family, and the environment. These include - Oven and drain cleaners - Laundry powder - Floor polish - Paint thinners, strippers and removers - Pesticides - Grease and rust removers - Motor oil and fuel additives - Arts and craft supplies Toxic substances in these products can cause harm if inhaled, swallowed, or absorbed through the skin. People respond to toxic substances in different ways. At high doses a toxic substance might cause birth defects or other serious problems, including brain damage or death. To avoid problems, keep products in the containers they come in and use them exactly as the label says. Follow label directions or get medical help if you swallow, inhale or get them on your skin. Environmental Protection Agency
The incidence of infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected.
Acute hepatitis B is a short-term infection with the hepatitis B virus. Symptoms usually last several weeks but they can last up to 6 months. The infection sometimes clears up because your body is able to fight off the infection and get rid of the virus. Most healthy adults and children older than 5 who have hepatitis B get better without treatment.
These resources address the diagnosis or management of Frasier syndrome: - Genetic Testing Registry: Frasier syndrome - MedlinePlus Encyclopedia: Focal Segmental Glomerulosclerosis - MedlinePlus Encyclopedia: Nephrotic 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
Both men and women can get Crohn's disease, and it can run in families. People with Crohns disease may have a blood relative with the disease or another type of IBD. Crohns disease most commonly starts between the ages of 13 and 30.
Many people with cirrhosis have no symptoms in the early stages of the disease. However, as the disease progresses, a person may experience the following symptoms: - fatigue, or feeling tired - weakness - itching - loss of appetite - weight loss - nausea - bloating of the abdomen from ascitesa buildup of fluid in the abdomen - edemaswelling due to a buildup of fluidin the feet, ankles, or legs - spiderlike blood vessels, called spider angiomas, on the skin - jaundice, a condition that causes the skin and whites of the eyes to turn yellow
Is congenital anosmia inherited? Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. In these families, the condition appears to be inherited in an autosomal dominant manner with reduced penetrance. Congenital anosmia can also by associated with specific genetic disorders such as Kallmann syndrome and congenital insensitivity to pain. In these cases, the inheritance varies based on the associated condition. For example, Kallmann syndrome can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner depending on the underlying genetic cause (it can be caused by mutations in several different genes). Congenital insensitivity to pain follows an autosomal recessive pattern of inheritance.
Glanzmann thrombasthenia is estimated to affect 1 in one million individuals worldwide, but may be more common in certain groups, including those of Romani ethnicity, particularly people within the French Manouche community.
Certain factors affect prognosis (chance of recovery) and treatment options. Gestational trophoblastic disease usually can be cured. Treatment and prognosis depend on the following: - The type of GTD. - Whether the tumor has spread to the uterus, lymph nodes, or distant parts of the body. - The number of tumors and where they are in the body. - The size of the largest tumor. - The level of -hCG in the blood. - How soon the tumor was diagnosed after the pregnancy began. - Whether GTD occurred after a molar pregnancy, miscarriage, or normal pregnancy. - Previous treatment for gestational trophoblastic neoplasia. Treatment options also depend on whether the woman wishes to become pregnant in the future.
How is congenital anosmia diagnosed? Isolated congenital anosmia (not associated with other symptoms) is a diagnosis of exclusion. This means that the diagnosis is made in people with suspicious signs and symptoms once other conditions that cause similar features have been ruled out. When an affected person has no recollection of ever being able to smell, the following tests may be ordered to support a diagnosis of congenital anosmia: A thorough physical examination and medical history to look for other conditions that may interfere with the sense of smell Smell tests, particularly those that determine the smallest amount of odor that someone can detect Brain Imaging (such as CT scan and MRI scan) as some people with congenital anosmia have malformations in the portion of the brian that processes smells Nasal endoscopy to look for abnormalities of the nasal cavity which may interfere with sense of smell Olfactory nerve testing to evaluate disruptions in the pathway that carries information from the nose to the brain
Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from: - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect Native Hawaiians and Pacific Islanders.
Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "s" or "C" shape, and the bones of the spine become slightly twisted or rotated. In many cases, the abnormal spinal curve is stable; however, in some children, the curve becomes more severe over time (progressive). For unknown reasons, severe and progressive curves occur more frequently in girls than in boys. The cause of adolescent idiopathic scoliosis is unknown. It is likely that there are both genetic and environmental factors involved. Treatment may include observation, bracing and/or surgery.
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood. The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).
The exact prevalence of cyclic vomiting syndrome is unknown; estimates range from 4 to 2,000 per 100,000 children. The condition is diagnosed less frequently in adults, although recent studies suggest that the condition may begin in adulthood as commonly as it begins in childhood.
Is genetic testing available for Andersen-Tawil syndrome? Yes, the Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How is Andersen-Tawil syndrome diagnosed? The diagnosis of Andersen-Tawil syndrome might be suspected in individuals with either: 1. Two of the following three criteria: Periodic paralysis Symptomatic cardiac arrhythmias or evidence of enlarged U-waves, ventricular ectopy, or a prolonged QTc or QUc interval on electrocardiogram (ECG) Characteristic facial features, dental abnormalities, small hands and feet, and at least two of the following: Low-set ears Widely spaced eyes Small lower jaw (mandible) Fifth-digit clinodactyly (curved pinky finger) Syndactyly or 2. One of the above three criteria in addition to at least one other family member who meets two of the three criteria. The presence of a mutation in the KCNJ2 gene confirms the diagnosis of Andersen-Tawil syndrome.
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent, as well as on the extent and severity of other organ involvement, such as the kidneys and liver. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability, moderate impaired mental development, and multi-organ impairments.
Alzheimers disease is an illness of the brain. It causes large numbers of nerve cells in the brain to die. This affects a persons ability to remember things and think clearly. People with Alzheimers become forgetful and easily confused and may have a hard time concentrating. They may have trouble taking care of themselves and doing basic things like making meals, bathing, and getting dressed. Alzheimers varies from person to person. It can progress faster in some people than in others, and not everyone will have the same symptoms. In general, though, Alzheimers takes many years to develop, becoming increasingly severe over time. As the disease gets worse, people need more help. Eventually, they require total care. For a short overview of Alzheimers, see Understanding Alzheimers Disease: What You Need to Know.
3-M syndrome is a rare disorder. About 50 individuals with this disorder have been identified worldwide.
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. Rarely, both copies of the gene are altered, leading to more severe signs and symptoms. In most cases, an affected person has one parent with the condition.
Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets and as a result, there are fewer of these healthy cells. In myeloproliferative diseases, a greater than normal number of blood stem cells develop into one or more types of blood cells and the total number of blood cells slowly increases. The 3 main types of myelodysplastic/myeloproliferative diseases include chronic myelomonocytic leukemia (CMML); juvenile myelomonocytic leukemia (JMML); and atypical chronic myelogenous leukemia (aCML). When a myelodysplastic/myeloproliferative disease does not match any of these types, it is called myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC). Symptoms of CMML and JMML may include fever, feeling tired and weight loss. Symptoms of aCML may include easy bruising or bleeding and feeling tired or weak. Myelodysplastic/myeloproliferative diseases may progress to acute leukemia. There are different types of treatment for individuals with one of these diseases, which may include chemotherapy, another drug therapy, stem cell transplant and/or supportive care.
In BPPV (benign paroxysmal positional vertigo), small calcium particles in the inner ear become displaced, causing dizziness. A doctor, otolaryngologist, audiologist, or physical therapist can treat BPPV by carefully moving the head and torso to move the displaced calcium particles back to their original position Learn more about causes and treatments for BPPV. An NIDCD-supported clinical trial in BPPV showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs.
These resources address the diagnosis or management of Lujan syndrome: - Gene Review: Gene Review: MED12-Related Disorders - Genetic Testing Registry: X-linked mental retardation with marfanoid habitus 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
Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.
How is human T-cell leukemia virus, type 2 diagnosed? Human T-cell leukemia virus, type 2 (HTLV-2) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-2 is often never suspected or diagnosed since most people never develop any signs or symptoms of the infection. Diagnosis may occur during screening for blood donation, testing performed due to a family history of the infection, or a work-up for an HTLV-2-associated medical problems.
Hairy tongue is a condition in which the the central top portion of the tongue presents with an abnormal coloring. Although the abnormal coating is typically black in color, brown, yellow, and green discoloration has been described.
Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm (arrhythmia), and developmental abnormalities. The most common changes affecting the heart are ventricular arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, and long QT syndrome. Long QT syndrome is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. If untreated, the irregular heartbeats can lead to discomfort, fainting (syncope), or cardiac arrest. Physical abnormalities associated with Andersen-Tawil syndrome typically affect the head, face, and limbs. These features often include a very small lower jaw (micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and unusual curving of the fingers or toes (clinodactyly). Some affected people also have short stature and an abnormal curvature of the spine (scoliosis). Two types of Andersen-Tawil syndrome are distinguished by their genetic causes. Type 1, which accounts for about 60 percent of all cases of the disorder, is caused by mutations in the KCNJ2 gene. The remaining 40 percent of cases are designated as type 2; the cause of these cases is unknown.
Dry mouth is the feeling that there is not enough saliva in the mouth. Everyone has dry mouth once in a while -- if they are nervous, upset, under stress, or taking certain medications. But if you have dry mouth all or most of the time, see a dentist or physician. Many older adults have dry mouth, but it is not a normal part of aging. (Watch the video to learn more about dry mouth. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Why Saliva is Important Saliva does more than keep your mouth wet. It protects teeth from decay, helps heal sores in your mouth, and prevents infection by controlling bacteria, viruses, and fungi in the mouth. Saliva helps digest food and helps us chew and swallow. Saliva is involved in taste perception as well. Each of these functions of saliva is hampered when a person has dry mouth. How Dry Mouth Feels Dry mouth can be uncomfortable. Some people notice a sticky, dry feeling in the mouth. Others notice a burning feeling or difficulty while eating. The throat may feel dry, too, making swallowing difficult and choking common. Also, people with dry mouth may get mouth sores, cracked lips, and a dry, rough tongue.
The National Cancer Institute has developed a comprehensive online cancer database called the Physician Data Query (PDQ) to present evidence from the most recent research on melanoma and other skin cancers. Click here to see the PDQ. A window will open. Click the "x" in the upper right hand corner of the "PDQ" window to return here.
What are the signs and symptoms of Waardenburg syndrome type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Heterochromia iridis - Premature graying of hair - Sensorineural hearing impairment - White forelock - 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.
People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. The inheritance is considered autosomal dominant because one copy of the mutated gene is sufficient to make an individual susceptible to PMAH. However, the condition develops only when affected individuals acquire another mutation in the other copy of the ARMC5 gene in certain cells of the adrenal glands. This second mutation is described as somatic. Instead of being passed from parent to child, somatic mutations are acquired during a person's lifetime and are present only in certain cells. Because somatic mutations are also required for PMAH to occur, some people who have inherited the altered ARMC5 gene never develop the condition, a situation known as reduced penetrance. When PMAH is caused by GNAS gene mutations, the condition is not inherited. The GNAS gene mutations that cause PMAH are somatic mutations. In PMAH, the gene mutation is believed to occur early in embryonic development. Cells with the mutated GNAS gene can be found in both adrenal glands.
A bushy, wild-growing plant with yellow flowers, St John's wort has been used for centuries in many folk and herbal remedies. It is commonly used in Europe to treat mild depression, and it is a top-seller in the United States as well. In a study funded by the National Institutes of Health, the herb was found to be no more effective than a placebo (sugar pill) in treating adults suffering from major depression. Other research has shown that St. John's wort can interact unfavorably with other drugs. The herb interferes with certain drugs used to treat heart disease, depression, seizures, certain cancers, and organ transplant rejection. Because of these potential interactions, older adults should always consult with their doctors before taking any herbal supplement. Another product sold as a dietary supplement, S-adenosyl methionine (SAMe), has shown promise in controlled trials as helpful when added to an SSRI antidepressant that is only partially effective.
No one treatment has been found to be universally effective. Instead, doctors use a variety of therapies (medications, surgery, and other treatments such as physical therapy, splinting, stress management, and biofeedback) aimed at reducing or eliminating muscle spasms and pain. Since response to drugs varies among individuals and even in the same person over time, the most effective therapy is often individualized.
Peyronie disease is a connective tissue disorder characterized by a plaque, or hard lump, that forms within the penis. Affected individuals may experience painful, curved erections which can make make normal sexual intercourse impossible. Symptoms may appear suddenly or develop gradually. While the painful erections for most men resolve over time, the scar tissue and curvature may remain. Some cases appear to resolve spontaneously. The exact cause of Peyronie's disease is not known.
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals. Signs and symptoms of CPT I deficiency often appear during early childhood. Affected individuals usually have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CPT I deficiency can also have an enlarged liver (hepatomegaly), liver malfunction, and elevated levels of carnitine in the blood. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, seizures, coma, and sudden death. Problems related to CPT I 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.
Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. Cardiac troponin I is one of three proteins that make up the troponin protein complex, which helps regulate tensing (contraction) and relaxation of the heart muscle. TNNI3 gene mutations associated with familial restrictive cardiomyopathy result in the production of a defective cardiac troponin I protein. The altered protein disrupts the function of the troponin protein complex and does not allow the heart muscle to fully relax. As a result, not enough blood enters the ventricles, leading to a buildup in the atria and lungs. The abnormal heart relaxation and blood flow is responsible for many of the signs and symptoms of familial restrictive cardiomyopathy. Mutations in other genes associated with familial restrictive cardiomyopathy each account for a small percentage of cases of this condition. Some people with familial restrictive cardiomyopathy do not have an identified mutation in any of the known associated genes. The cause of the disorder in these individuals is unknown.
Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.
CAV3-related distal myopathy is part of a group of conditions called caveolinopathies, which are muscle disorders caused by mutations in the CAV3 gene. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure. CAV3 gene mutations result in a shortage of caveolin-3 protein in the muscle cell membrane and a reduction in the number of caveolae. Researchers suggest that a shortage of caveolae impairs the structural integrity of muscle cells, interferes with cell signaling, and causes the self-destruction of cells (apoptosis). The resulting degeneration of muscle tissue leads to the signs and symptoms of CAV3-related distal myopathy. In addition to CAV3-related distal myopathy, CAV3 gene mutations can cause other caveolinopathies including limb-girdle muscular dystrophy, rippling muscle disease, isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy. Several CAV3 gene mutations have been found to cause different caveolinopathies in different individuals. It is unclear why a single CAV3 gene mutation may cause different patterns of signs and symptoms, even within the same family.
These resources address the diagnosis or management of multiple epiphyseal dysplasia: - Cedars-Sinai Medical Center - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Dominant - Gene Review: Gene Review: Multiple Epiphyseal Dysplasia, Recessive - Genetic Testing Registry: Multiple epiphyseal dysplasia 1 - Genetic Testing Registry: Multiple epiphyseal dysplasia 2 - Genetic Testing Registry: Multiple epiphyseal dysplasia 3 - Genetic Testing Registry: Multiple epiphyseal dysplasia 4 - Genetic Testing Registry: Multiple epiphyseal dysplasia 5 - Genetic Testing Registry: Multiple epiphyseal dysplasia 6 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
Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
A person with Whipple disease and malabsorption may need - a diet high in calories and protein - vitamins - nutritional supplements
These resources address the diagnosis or management of Rubinstein-Taybi syndrome: - Gene Review: Gene Review: Rubinstein-Taybi Syndrome - Genetic Testing Registry: Rubinstein-Taybi syndrome - MedlinePlus Encyclopedia: Rubinstein-Taybi 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
Both types of BRIC are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some people with BRIC have no family history of the disorder. These cases arise from mutations in the ATP8B1 or ABCB11 gene that occur in the body's cells after conception and are not inherited.
Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Targeted therapy, using drugs that go directly to a gene mutation and repair or block the mutation from causing cancer, are the current gold standard for treating some types of lung cancer. Get more information on current lung cancer research.
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain. People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.
These resources address the diagnosis or management of congenital fibrosis of the extraocular muscles: - Gene Review: Gene Review: Congenital Fibrosis of the Extraocular Muscles - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 1 - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 2 - Genetic Testing Registry: Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement - Genetic Testing Registry: Tukel syndrome - MedlinePlus Encyclopedia: Extraocular Muscle Function Testing - MedlinePlus Encyclopedia: Strabismus 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 Y chromosome infertility: - Gene Review: Gene Review: Y Chromosome Infertility - Genetic Testing Registry: Spermatogenic failure, Y-linked 2 - Genetic Testing Registry: Spermatogenic failure, Y-linked, 1 - MedlinePlus Encyclopedia: Semen Analysis 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 steatocystoma multiplex be treated? Treatment options for steatocystoma multiplex are limited and have had varying degrees of success. The most effective treatment method is thought to be removal of cysts by surgery. However, cosmetic concerns, time, cost, and pain need to be considered because affected individuals often have multiple cysts. In many cases, small incisions (cuts into the skin) allow the cyst and its contents to be removed through the opening. Other treatment options include medications such as oral isotretinoin to temporarily shrink the cysts and reduce inflammation or oral antibiotics to reduce redness and swelling. Other procedures may include draining cysts through a procedure called aspiration, liquid nitrogen cryotherapy, dermabrasion, and carbon dioxide laser therapy. In a recently published case study, the authors present a case in which an individual with steatocystomas on the abdomen and lower chest showed substantial clearance of cysts after two laser treatment sessions. Future studies with a larger patient population will be helpful to evaluate this noninvasive treatment option and determine ideal treatment settings, number of treatments, and interval between treatments. This may prove to be an option for individuals with numerous cysts, in whom removal and drainage is not a realistic choice and other treatments have failed to improve the condition.
The NINDS supports research on neurological disorders such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder.
FOXG1 syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations or deletions involving the FOXG1 gene and have occurred in people with no history of the disorder in their family. Because the condition is so severe, no one with FOXG1 syndrome has been known to have children.
For those with dyslexia, the prognosis is mixed. The disability affects such a wide range of people and produces such different symptoms and varying degrees of severity that predictions are hard to make. The prognosis is generally good, however, for individuals whose dyslexia is identified early, who have supportive family and friends and a strong self-image, and who are involved in a proper remediation program.
The National Institute of Neurological Disorders and Stroke (NINDS) conducts spinal cord research in its laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major research institutions across the country. Advances in research are giving doctors and patients hope that repairing injured spinal cords is a reachable goal. Advances in basic research are also being matched by progress in clinical research, especially in understanding the kinds of physical rehabilitation that work best to restore function. Some of the more promising rehabilitation techniques are helping spinal cord injury patients become more mobile.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PPS in laboratories at the NIH, and also support additional PPS research through grants to major medical institutions across the country.
Coffin-Siris syndrome is a rare condition that is diagnosed in females more frequently than in males. Approximately 140 cases have been reported in the medical literature.
15q13.3 microduplication syndrome is a rare chromosome abnormality first described in 2009. Since only a small number of individuals with this microduplication have been reported, the full range of effects is still being discovered. What is known is that the symptoms are variable, even between members of the same family. While some people with this microduplication do not have symptoms, several features seem to be common, including delayed development, intellectual disability, communication difficulties, emotional and behavioral problems (including autistic spectrum disorders), insomnia, and seizures. 15q13.3 microduplication syndrome is caused by a tiny duplication (microduplication) on the long arm of chromosome 15 that spans at least 6 genes. The features of this syndrome are thought to be caused by the presence of three copies of the genes in this region, instead of the normal two. However, it is unclear which genes contribute to the specific features. In addition, it is likely that other genetic or environmental factors influence the symptoms seen in this condition. Some cases of 15q13.3 microduplication syndrome are inherited in an autosomal dominant manner with reduced penetrance. Other cases are new (de novo). Treatment typically focuses on treating the symptoms (such as medication for seizures).
What causes Liddle syndrome? Liddle syndrome is caused by mutations (changes) in either of two genes: SCNN1B and SCNN1G . The SCNN1B gene provides instructions for making one piece (the beta subunit) of protein complexes called epithelial sodium channels (ENaCs). The SCNN1G gene provides instructions for making a different piece (the gamma subunit) of ENaCs. These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells. Mutations in the SCNN1B and SCNN1G genes associated with Liddle syndrome affect an important region of the protein involved in signaling for its breakdown (degradation). As a result of the mutations, the protein is not tagged for degradation, and more ENaC channels remain at the cell's surface. The increase in channels at the cell surface abnormally increases the reabsorption of sodium, which leads to hypertension. Removal of potassium from the blood is linked with reabsorption of sodium into the blood, so excess sodium reabsorption leads to hypokalemia.
These resources address the diagnosis or management of leptin receptor deficiency: - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How Are Obesity and Overweight Diagnosed? - Genetic Testing Registry: Leptin receptor deficiency - Genetics of Obesity Study - National Heart, Lung, and Blood Institute: How Are Overweight and Obesity 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
Treatment may include surgery, focused radiation, or chemotherapy. Surgery to remove NF2 tumors completely is one option. Surgery for vestibular schwannomas does not restore hearing and usually reduces hearing. Sometimes surgery is not performed until functional hearing is lost completely. Surgery may result in damage to the facial nerve and some degree of facial paralysis. Focused radiation of vestibular schwannoma carries of a lower risk of facial paralysis than open surgery, but is more effective o shrinking small to moderate tumors than larger tumors. Chemotherapy with a drug that targets the blood vessels of vestibular schwannoma can reduce the size of the tumor and improves hearing, but some tumors do not respond at all and sometimes respond only temporarily. Bone malformations can often be corrected surgically, and surgery can also correct cataracts and retinal abnormalities. Pain usually subsides when tumors are removed completely.
Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages before you even know you are pregnant. Drinking alcohol can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Effects can include physical and behavioral problems such as trouble with - Learning and remembering - Understanding and following directions - Controlling emotions - Communicating and socializing - Daily life skills, such as feeding and bathing Fetal alcohol syndrome is the most serious type of FASD. People with fetal alcohol syndrome have facial abnormalities, including wide-set and narrow eyes, growth problems and nervous system abnormalities. FASDs last a lifetime. There is no cure for FASDs. Treatments can help. These include medicines to help with some symptoms and behavior therapy. No one treatment is right for every child. Centers for Disease Control and Prevention