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Bjrnstad syndrome is a rare condition, although its prevalence is unknown. It has been found in populations worldwide.
Most cases of Down syndrome result from trisomy 21, which means each cell in the body has three copies of chromosome 21 instead of the usual two copies. Less commonly, Down syndrome occurs when part of chromosome 21 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) in a parent or very early in fetal development. Affected people have two normal copies of chromosome 21 plus extra material from chromosome 21 attached to another chromosome, resulting in three copies of genetic material from chromosome 21. Affected individuals with this genetic change are said to have translocation Down syndrome. A very small percentage of people with Down syndrome have an extra copy of chromosome 21 in only some of the body's cells. In these people, the condition is called mosaic Down syndrome. Researchers believe that having extra copies of genes on chromosome 21 disrupts the course of normal development, causing the characteristic features of Down syndrome and the increased risk of health problems associated with this condition.
- 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. - Intestinal pseudo-obstruction symptoms may include abdominal swelling or bloating, also called distension; abdominal pain; nausea; vomiting; constipation; and diarrhea. Over time, the condition can cause malnutrition, bacterial overgrowth in the intestines, and weight loss. - To diagnose intestinal pseudo-obstruction, a health care provider may suggest the person consult a gastroenterologista doctor who specializes in digestive diseases. A health care provider will perform a physical exam; take a complete medical history, imaging studies, and a biopsy; and perform blood tests. A health care provider may order other tests to confirm the diagnosis. - A health care provider will treat intestinal pseudo-obstruction with nutritional support, medications, and, in some cases, decompression. Rarely, a person will need surgery. If an illness, a medication, or both cause intestinal pseudo-obstruction, a health care provider will treat the underlying illness, stop the medication, or do both. A health care provider may recommend small intestine transplantation when all other treatments have failed.
Klumpke paralysis is a type of brachial palsy in newborns. Signs and symptoms include weakness and loss of movement of the arm and hand. Some babies experience drooping of the eyelid on the opposite side of the face as well. This symptom may also be referred to as Horner syndrome. Klumpke paralysis is caused by an injury to the nerves of the brachial plexus which may result from a difficult delivery. This injury can cause a stretching (neuropraxia,), tearing (called avulsion when the tear is at the spine, and rupture when it is not), or scarring (neuroma) of the brachial plexus nerves. Most infants with Klumpke paralysis have the more mild form of injury (neuropraxia) and often recover within 6 months.
What causes tracheobronchopathia osteoplastica? The underlying cause of tracheobronchopathia osteoplastica (TO) remains unknown. Several theories have been proposed, including chronic airway inflammation, exostosis (formation of new bone), and metaplasia (abnormal cell changes) in the affected tissue. Numerous cases have been reported in association with different conditions including allergic rhinitis. However, no theories have been validated. There is no known genetic susceptibility to the development of TO.
Is genetic testing available for anaplastic astrocytomas? When anaplastic astrocytomas are not associated with an inherited condition, the cause typically remains unknown. In these cases, genetic testing is not available. However, genetic testing is available for the few genetic disorders that are associated with an increased risk for developing an astrocytoma. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for these conditions. On the GTR Web site, search for a disorder to find out about the genetic tests that are available. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.
Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classical forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 people. Other forms of Ehlers-Danlos syndrome are very rare. About 30 cases of the arthrochalasia type and about 60 cases of the kyphoscoliosis type have been reported worldwide. About a dozen infants and children with the dermatosparaxis type have been described. The vascular type is also rare; estimates vary widely, but the condition may affect about 1 in 250,000 people.
Adhesions are bands of scar-like tissue. Normally, internal tissues and organs have slippery surfaces so they can shift easily as the body moves. Adhesions cause tissues and organs to stick together. They might connect the loops of the intestines to each other, to nearby organs, or to the wall of the abdomen. They can pull sections of the intestines out of place. This may block food from passing through the intestine. Adhesions can occur anywhere in the body. But they often form after surgery on the abdomen. Almost everyone who has surgery on the abdomen gets adhesions. Some adhesions don't cause any problems. But when they partly or completely block the intestines, they cause symptoms such as - Severe abdominal pain or cramping - Vomiting - Bloating - An inability to pass gas - Constipation Adhesions can sometimes cause infertility in women by preventing fertilized eggs from reaching the uterus. No tests are available to detect adhesions. Doctors usually find them during surgery to diagnose other problems. Some adhesions go away by themselves. If they partly block your intestines, a diet low in fiber can allow food to move easily through the affected area. If you have a complete intestinal obstruction, it is life threatening. You should get immediate medical attention and may need surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
How might Pelizaeus-Merzbacher disease be treated?
How might pyridoxine-dependent epilepsy be treated? Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Recent studies have focused on using a lysine-restricted diet in addition to pyridoxine. Preliminary results suggest that this treatment has the potential to help control seizures and improve developmental outcomes in children with pyridoxine-dependent epilepsy.
Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet. Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties. Cramps in the hand brought on by exposure to cold temperatures are often the initial symptom. The characteristic features of distal hereditary motor neuropathy, type V are weakness and wasting (atrophy) of muscles of the hand, specifically on the thumb side of the index finger and in the palm at the base of the thumb. Foot abnormalities, such as a high arch (pes cavus), are also common, and some affected individuals eventually develop problems with walking (gait disturbance). People with this disorder have normal life expectancies.
These resources address the diagnosis or management of ataxia-telangiectasia: - Gene Review: Gene Review: Ataxia-Telangiectasia - Genetic Testing Registry: Ataxia-telangiectasia syndrome - MedlinePlus Encyclopedia: Ataxia-Telangiectasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How is human T-cell leukemia virus, type 1 diagnosed? Human T-cell leukemia virus, type 1 (HTLV-1) is usually diagnosed based on blood tests that detect antibodies to the virus. However, HTLV-1 is often never suspected or diagnosed since most people (95%) 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-1-associated condition such as adult T-cell leukemia (ATL) or HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).
The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quarts of urine an adult produces each day. Children produce less urine each day; the amount produced depends on their age. The urine travels from the kidneys down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. Routinely, urine drains in only one directionfrom the kidneys to the bladder. The bladder fills with urine until it is full enough to signal the need to urinate. In children, the bladder can hold about 2 ounces of urine plus 1 ounce for each year of age. For example, an 8-year-olds bladder can hold about 10 ounces of urine. When the bladder empties, a muscle called the sphincter relaxes and urine flows out of the body through a tube called the urethra at the bottom of the bladder. The opening of the urethra is at the end of the penis in boys and in front of the vagina in girls.
Mutations in the TRAPPC2 gene (often called the SEDL gene) cause X-linked spondyloepiphyseal dysplasia tarda. The TRAPPC2 gene provides instructions for producing the protein sedlin. The function of sedlin is unclear. Researchers believe that sedlin is part of a large molecule called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between various cell compartments (organelles). Because sedlin is active (expressed) in cells throughout the body; it is unclear why mutations in the TRAPPC2 gene affect only bone growth.
Treatment is symptomatic, and may include anti-seizure medication and special or supplemental education consisting of physical, occupational, and speech therapies.
Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cell destruction, which leads to several problems, including total body swelling. Severe swelling can interfere with how the body organs work. Nonimmune hydrops fetalis occurs when a disease or medical condition disrupts the body's ability to manage fluid. There are three main causes for this type: heart or lung problems, severe anemia (thalassemia), and genetic defects, including Turner syndrome. The exact cause depends on which form a baby has.
D-2-HGA type I, L-2-HGA, and combined D,L-2-HGA all have an autosomal recessive pattern of inheritance, 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. D-2-HGA type II is considered an autosomal dominant disorder because one copy of the altered gene in each cell is sufficient to cause the condition. The disorder typically results from a new mutation in the IDH2 gene and occurs in people with no history of the condition in their family.
Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). The exact underlying cause of Barrett esophagus is not known; however, it generally occurs sporadically in people with no family history of the condition. Treatment varies by the severity of the condition and generally includes medications and life style modifications to ease the symptoms of GERD. Endoscopic or surgical treatments may be recommended in people with severe cases.
How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. Transfusions are generally used with caution as the potential risks often outweigh the benefits when bleeding is not life-threatening. People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS).
Linear porokeratosis is a skin condition that most often begins in infancy or early childhood, but it can occur at any age. The main feature of this condition is the development of reddish brown, slightly raised markings on the skin arranged in lines or streaks on one side of the body. These markings are not usually painful, though they can sometimes cause open sores in the skin. There is up to an 11% chance that these markings could progress to skin cancer (basal cell cancer or squamous cell carcinoma) over time. The exact cause of linear porokeratosis is unknown, but risk factors may include exposure to the sun or radiation, problems with the immune system (immunosuppression), or genetic predisposition.
What causes primary carnitine deficiency? Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. This deficiency, as well as potential build-up of fatty acids within the cells, causes the signs and symptoms of the condition.
Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities. There are 2 types of BCS which are distinguished by the mutated gene that causes the condition. BCS type 1 is caused by mutations in the ZNF469 gene and BCS type 2 is caused by mutations in the PRDM5 gene. BCS is inherited in an autosomal recessive manner.
These resources address the diagnosis or management of HSAN2: - Gene Review: Gene Review: Hereditary Sensory and Autonomic Neuropathy Type II - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIA - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type IIB These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Summary : When you cough or sneeze, you send tiny germ-filled droplets into the air. Colds and flu usually spread that way. You can help stop the spread of germs by - Covering your mouth and nose when you sneeze or cough. Sneeze or cough into your elbow, not your hands. - Cleaning your hands often - always before you eat or prepare food, and after you use the bathroom or change a diaper - Avoiding touching your eyes, nose or mouth Hand washing is one of the most effective and most overlooked ways to stop disease. Soap and water work well to kill germs. Wash for at least 20 seconds and rub your hands briskly. Disposable hand wipes or gel sanitizers also work well.
Certain factors affect treatment options and prognosis (chance of recovery). The treatment options and prognosis (chance of recovery) depend on the following: - The type of soft tissue sarcoma. - The size, grade, and stage of the tumor. - How fast the cancer cells are growing and dividing. - Where the tumor is in the body. - Whether all of the tumor is removed by surgery. - The patient's age and general health. - Whether the cancer has recurred (come back).
IRD is a fatal disease, but some children will survive into their teens and twenties, and possibly even beyond.
Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.
Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious. There are many things you can do to prevent constipation. They include - Eating more fruits, vegetables and grains, which are high in fiber - Drinking plenty of water and other liquids - Getting enough exercise - Taking time to have a bowel movement when you need to - Using laxatives only if your doctor says you should - Asking your doctor if medicines you take may cause constipation It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. Researchers are studying DNA samples from individuals with Dandy-Walker syndrome to identify genes involved with the syndrome, as well as to better understand its causes and improve diagnosis and treatment options. Other research indicates that mothers with diabetes and those with rubella (German measles) during pregnancy are more likely to have a child with Dandy-Walker syndrome.
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a neurological condition characterized by changes to certain areas of the brain. A hallmark of HDLS is leukoencephalopathy, which is damage to a type of brain tissue called white matter. Another common finding is axon damage due to swellings called spheroids. Damage to myelin and axons is thought to contribute to many of the neurological signs and symptoms seen in people with this condition, including the personality changes, loss of memory, changes in motor skills and dementia. HDLS is caused by mutations in the CSF1R gene. It is inherited in an autosomal dominant pattern.
These resources address the diagnosis or management of hypomyelination and congenital cataract: - Gene Review: Gene Review: Hypomyelination and Congenital Cataract - Genetic Testing Registry: Hypomyelination and Congenital Cataract - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Muscle Atrophy 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
Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced. Researchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones. Although inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments.
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.
The NINDS supports a broad range of research on neurodegenerative disorders such as Dyssynergia Cerebellaris Myoclonica. The goals of this research are to find ways to prevent, treat, and cure these kinds of disorders.
Most people who have a problem with smell have recently had an illness or injury. The most common causes are upper respiratory infections, such as the common cold, and chronic sinus or nasal disease. Other common causes are - aging - smoking - nasal polyps - head injury - allergens such as ragweed, grasses, and pet dander - hormonal disturbances - dental problems - exposure to certain chemicals such as insecticides or solvents - medications such as antibiotics or antihistamines - radiation for treatment of head and neck cancers - diseases of the nervous system such as Parkinsons disease or Alzheimers disease. aging smoking nasal polyps head injury allergens such as ragweed, grasses, and pet dander hormonal disturbances dental problems exposure to certain chemicals such as insecticides or solvents medications such as antibiotics or antihistamines radiation for treatment of head and neck cancers diseases of the nervous system such as Parkinsons disease or Alzheimers disease.
Most cases of oculopharyngeal muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with autosomal dominant oculopharyngeal muscular dystrophy have a mutation resulting in a PABPN1 protein with an expanded polyalanine tract of between 12 and 17 alanines. Less commonly, oculopharyngeal muscular dystrophy can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In autosomal recessive oculopharyngeal muscular dystrophy, PABPN1 mutations lead to a polyalanine tract that is 11 alanines long. 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 cone dystrophy diagnosed? The diagnosis of cone dystrophy is made based upon the presence of characteristic symptoms, a detailed family history, a thorough clinical evaluation and a number of supporting tests. While exams that measure visual acuity, perception of color, and field of vision are used to arrive at a proper diagnosis, an electroretinogram (ERG) is used to confirm the diagnosis. During an ERG, eye drops are used to numb the eye before a special contact lens recorder is placed on the eye. Then a series of flashes of light are used to stimulate the retina. Doctors can then measure the electrical response of the rods and cones to the light. The test is performed twice once in bright room and again in a dark room. A weak of absent signal of cone cells indicates cone dystrophy. More details about the diagnosis of cone dystrophy can be accessed through the University of Michigan Kellogg Eye Center.
Focal dermal hypoplasia appears to be a rare condition, although its exact prevalence is unknown.
Chediak-Higashi syndrome is a rare disorder. About 200 cases of the condition have been reported worldwide.
Osteoporosis is a disease that thins and weakens the bones to the point that they break easily. Women and men with osteoporosis most often break bones in the hip, spine, and wrist, but osteoporosis can be the cause of bone fractures anywhere.
These resources address the diagnosis or management of infantile systemic hyalinosis: - Gene Review: Gene Review: Hyalinosis, Inherited Systemic - Genetic Testing Registry: Hyaline fibromatosis syndrome - MedlinePlus Encyclopedia: Protein-losing enteropathy 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 parathyroid glands are four pea-sized glands located on or near the thyroid gland in the neck. Occasionally, a person is born with one or more of the parathyroid glands in another location. For example, a gland may be embedded in the thyroid, in the thymusan immune system organ located in the chestor elsewhere around this area. In most such cases, however, the parathyroid glands function normally. The parathyroid glands are part of the bodys endocrine system. Endocrine glands produce, store, and release hormones, which travel in the bloodstream to target cells elsewhere in the body and direct the cells activity. Though their names are similar, the thyroid and parathyroid glands are entirely different glands, each producing distinct hormones with specific functions. The parathyroid glands produce PTH, a hormone that helps maintain the correct balance of calcium in the body. PTH regulates the level of calcium in the blood, release of calcium from bone, absorption of calcium in the small intestine, and excretion of calcium in the urine. When the level of calcium in the blood falls too low, normal parathyroid glands release just enough PTH to restore the blood calcium level.
Is Ehlers-Danlos syndrome, vascular type inherited? Ehlers-Danlos syndrome (EDS), vascular type is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with EDS, vascular type has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
What signs and symptoms are associated with coccygodynia? The classic symptom is pain when pressure is applied to the tailbone, such as when sitting on a hard chair. Symptoms usually improve with relief of pressure when standing or walking . Other symptoms include : Immediate and severe pain when moving from sitting to standing Pain during bowel movements Pain during sex Deep ache in the region of the tailbone
The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing. Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from them to particular muscles. When there are disruptions in these signals, the result can be gradual muscle weakening, wasting away, and uncontrollable twitching (called fasciculations). Eventually, the ability to control voluntary movement can be lost. MNDs may be inherited or acquired, and they occur in all age groups. MNDs occur more commonly in men than in women, and symptoms may appear after age 40. In children, particularly in inherited or familial forms of the disease, symptoms can be present at birth or appear before the child learns to walk. The causes of sporadic (noninherited) MNDs are not known, but environmental, toxic, viral, or genetic factors may be implicated. Common MNDs include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy, primary lateral sclerosis, and progressive muscular atrophy. Other MNDs include the many inherited forms of spinal muscular atrophy and post-polio syndrome, a condition that can strike polio survivors decades after their recovery from poliomyelitis.
Liddle syndrome is a rare condition, although its prevalence is unknown. The condition has been found in populations worldwide.
- Urinary incontinence (UI) is the loss of bladder control, which results in the accidental loss of urine. A child with UI may not stay dry during the day or night. Although UI affects many children, it usually disappears naturally over time. - By 5 years of age, more than 98 percent of children can control urination during the day. Nighttime wetting is more common than daytime wetting in children, affecting 30 percent of 4-year-olds. - The exact cause of most cases of nighttime UI is not known. Though a few cases are caused by structural problems in the urinary tract, most cases result from more than one factor including slower physical development, an overproduction of urine at night, and the inability to recognize bladder filling when asleep. - Nighttime UI has also been associated with attention deficit hyperactivity disorder (ADHD), obstructive sleep apnea (OSA), and anxiety. Certain genes have been found to contribute to UI. - Daytime UI that is not associated with urinary tract infection (UTI) or structural problems in the urinary tract may be due to an overactive bladder or infrequent or incomplete voiding problems. - Most UI fades away naturally as a child grows and develops and does not require treatment. When treatment is needed, options include bladder training and related strategies, moisture alarms, and medications.
How is Ehlers-Danlos syndrome diagnosed? A diagnosis of Ehlers-Danlos syndrome is typically based on the presence of characteristic signs and symptoms. Depending on the subtype suspected, some of the following tests may be ordered to support the diagnosis: Collagen typing performed on a skin biopsy may aid in the diagnosis of vascular type, arthrochalasia type, and dermatosparaxis type. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with Ehlers-Danlos syndrome often have abnormalities of certain types of collagen. Genetic testing is available for many subtypes of Ehlers-Danlos syndrome; however, it is not an option for most families with the hypermobility type. Imaging studies such as CT scan, MRI, ultrasound, and angiography may be useful in identifying certain features of the condition. Urine tests to detect deficiencies in certain enzymes that are important for collagen formation may be helpful in diagnosing kyphoscoliosis type.
There has been active debate about how to treat arachnoid cysts. The need for treatment depends mostly upon the location and size of the cyst. If the cyst is small, not disturbing surrounding tissue, and not causing symptoms, some doctors will refrain from treatment. In the past, doctors placed shunts in the cyst to drain its fluid. Now with microneurosurgical techniques and endoscopic tools that allow for minimally invasive surgery, more doctors are opting to surgically remove the membranes of the cyst or open the cyst so its fluid can drain into the cerebrospinal fluid and be absorbed.
- Immunoglobulin A (IgA) nephropathy, also known as Bergers disease, is a kidney disease that occurs when IgA deposits build up in the kidneys, causing inflammation that damages kidney tissues. - Scientists think that IgA nephropathy is an autoimmune kidney disease, meaning that the disease is due to the bodys immune system attacking tissues in the kidney. - IgA nephropathy is one of the most common kidney diseases, other than those caused by diabetes or high blood pressure. - In its early stages, IgA nephropathy may have no symptoms; it can be silent for years or even decades. - Once symptoms appear, the most common one is hematuria, or blood in the urine. - Another symptom of IgA nephropathy is albuminuriawhen a persons urine contains an increased amount of albumin, a protein typically found in the blood, or large amounts of protein in the urine. - Currently, health care providers do not use blood or urine tests as reliable ways to diagnose IgA nephropathy; therefore, the diagnosis of IgA nephropathy requires a kidney biopsy. - Researchers have not yet found a specific cure for IgA nephropathy.
Your spine, or backbone, protects your spinal cord and allows you to stand and bend. Spinal stenosis causes narrowing in your spine. The narrowing puts pressure on your nerves and spinal cord and can cause pain. Spinal stenosis occurs mostly in people older than 50. Younger people with a spine injury or a narrow spinal canal are also at risk. Diseases such as arthritis and scoliosis can cause spinal stenosis, too. Symptoms might appear gradually or not at all. They include - Pain in your neck or back - Numbness, weakness, cramping, or pain in your arms or legs - Pain going down the leg - Foot problems Doctors diagnose spinal stenosis with a physical exam and imaging tests. Treatments include medications, physical therapy, braces, and surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
What causes Parsonage Turner syndrome? The exact cause of Parsonage Turner syndrome (PTS) is unknown. Researchers suspect that most cases are due to an autoimmune response following exposure to an illness or environmental factor. In many cases, no triggering event or underlying cause can be identified. Factors known to trigger PTS include: Infections (both viral and bacterial) Surgery Vaccinations Childbirth Certain medical procedures, such as a spinal tap or imaging studies that require administration of radiologic dye Strenuous exercise Certain medical conditions, including connective tissue disorders and autoimmune disorders Injury Some researchers believe that PTS is a multifactorial condition, which means that it is caused by both environmental and genetic factors. In this case, a person may have a genetic susceptibility to PTS due to one or more genes, but won't develop the condition unless they are exposed to certain environmental triggers (such as those listed above).
Isolated microphthalmia is sometimes 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. In some cases, parents of affected individuals have less severe eye abnormalities. When microphthalmia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition, which may be autosomal recessive or other patterns. Often microphthalmia is not inherited, and there is only one affected individual in a family.
Signs of urethral cancer include bleeding or trouble with urination. These and other signs and symptoms may be caused by urethral cancer or by other conditions. There may be no signs or symptoms in the early stages. Check with your doctor if you have any of the following: - Trouble starting the flow of urine. - Weak or interrupted ("stop-and-go") flow of urine. - Frequent urination, especially at night. - Incontinence. - Discharge from the urethra. - Bleeding from the urethra or blood in the urine. - A lump or thickness in the perineum or penis. - A painless lump or swelling in the groin.
Peripheral neuropathy describes damage to the peripheral nervous system, which transmits information from the brain and spinal cord to every other part of the body. More than 100 types of peripheral neuropathy have been identified, each with its own characteristic set of symptoms, pattern of development, and prognosis. Impaired function and symptoms depend on the type of nerves -- motor, sensory, or autonomic -- that are damaged. Some people may experience temporary numbness, tingling, and pricking sensations, sensitivity to touch, or muscle weakness. Others may suffer more extreme symptoms, including burning pain (especially at night), muscle wasting, paralysis, or organ or gland dysfunction. Peripheral neuropathy may be either inherited or acquired. Causes of acquired peripheral neuropathy include physical injury (trauma) to a nerve, tumors, toxins, autoimmune responses, nutritional deficiencies, alcoholism, medical procedures, and vascular and metabolic disorders. Acquired peripheral neuropathies are caused by systemic disease, trauma from external agents, or infections or autoimmune disorders affecting nerve tissue. Inherited forms of peripheral neuropathy are caused by inborn mistakes in the genetic code or by new genetic mutations.
These resources address the diagnosis or management of boomerang dysplasia: - Gene Review: Gene Review: FLNB-Related Disorders - Genetic Testing Registry: Boomerang dysplasia 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
When is Poland syndrome typically first diagnosed? The severity of Poland syndrome differs from person to person. As a result it is not often diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious.
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.
Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors that are unhealthy and inflexible. The behaviors cause serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and problems. They often have stormy relationships with other people. The cause of personality disorders is unknown. However, genes and childhood experiences may play a role. The symptoms of each personality disorder are different. They can mild or severe. People with personality disorders may have trouble realizing that they have a problem. To them, their thoughts are normal, and they often blame others for their problems. They may try to get help because of their problems with relationships and work. Treatment usually includes talk therapy and sometimes medicine.
Pityriasis lichenoides is a skin disorder of unknown cause. There are two types of pityriasis lichenoides; a more severe form with a sudden onset that tends to be short-lived (acute) which is usually found in children, known as pityriasis lichenoides et varioliformis acuta and a more mild but long-lasting (chronic) form known as pityriasis lichenoides chronica. Pityriasis lichenoides chronica may clear up in a few weeks or persist for years.
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. Almost all cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
The symptoms of early cataract may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. If these measures do not help, surgery is the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens.
These resources address the diagnosis or management of SIDDT: - Clinic for Special Children (Strasburg, Pennsylvania) - Genetic Testing Registry: Sudden infant death with dysgenesis of the testes 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 are the signs and symptoms of Familial esophageal achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial esophageal achalasia. 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) Achalasia - Autosomal recessive inheritance - Keratoconjunctivitis sicca - Rheumatoid arthritis - Xerostomia - 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.
Mutations in the ZFYVE26 gene cause spastic paraplegia type 15. This gene provides instructions for making a protein called spastizin. This protein is important in a process called autophagy, in which worn-out cell parts and unneeded proteins are recycled within cells. Specifically, spastizin is involved in the formation and maturation of sacs called autophagosomes (or autophagic vacuoles) that transport unneeded materials to be broken down. Spastizin also plays a role in the process by which dividing cells separate from one another (cytokinesis). Many ZFYVE26 gene mutations that cause spastic paraplegia type 15 result in a shortened spastizin protein that is quickly broken down. As a result, functional autophagosomes are not produced, autophagy cannot occur, and recycling of materials within cells is decreased. An inability to break down unneeded materials, and the subsequent accumulation of these materials in cells, leads to cell dysfunction and often cell death. The loss of cells in the brain and other parts of the body is responsible for many of the features of spastic paraplegia type 15. It is unclear whether a lack of spastizin protein interferes with normal cytokinesis and whether impaired cell division contributes to the signs and symptoms of spastic paraplegia type 15.
What causes cold agglutinin disease? Cold agglutinin disease is typically classified as primary (unknown cause) or secondary (caused by an underlying condition). Secondary cold agglutinin disease may be associated with: Bacterial Infections such as mycoplasma, Legionnaires' disease, syphilis, listeriosis, or E. Coli Viral infections such Epstein-Barr virus, cytomegalovirus, mumps, varicella, rubella, adenovirus, HIV, influenza, or hepatitis C Parasitic infections such as malaria or trypanosomiasis Other autoimmune diseases such as systemic lupus erythematosus Certain types of cancers such as lymphoma, chronic lymphocytic leukemia, Waldenstrm macroglobulinemia, multiple myeloma, and Kaposi sarcoma
Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting. Most of the mutations that cause protein C deficiency change single protein building blocks (amino acids) in protein C, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein C to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein C deficiency can be divided into type I and type II based on how mutations in the PROC gene affect protein C. Type I is caused by PROC gene mutations that result in reduced levels of protein C, while type II is caused by PROC gene mutations that result in the production of an altered protein C with reduced activity. Both types of mutations can be associated with mild or severe protein C deficiency; the severity is determined by the number of PROC gene mutations an individual has.
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. Blood tests can show if you have diabetes. One type of test, the A1C, can also check on how you are managing your diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your blood glucose level and take medicine if prescribed. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
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 might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
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 might congenital adrenal hyperplasia be treated? The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require steroids to replace the low hormones. These medications will need to be taken daily throughout life or the symptoms of CAH may return. It is important that affected people on medications be closely followed by their healthcare provider because their dose may need to be adjusted at different times in life such as periods of high stress or illness. Girls with severe CAH who are born with ambiguous genitalia may undergo surgery to ensure proper function and/or to make the genitals look more female. For more information on the treatment of CAH, please click here.
Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Acinetobacter causes a variety of diseases, ranging from pneumonia to serious blood or wound infections, and the symptoms vary depending on the disease. Acinetobacter may also “colonize” or live in a patient without causing infection or symptoms, especially in tracheostomy sites or open wounds.
PLOSL is a very rare condition. It was first reported in the Finnish population, where it has an estimated prevalence of 1 to 2 per million people. This condition has also been diagnosed in more than 100 people in the Japanese population. Although affected individuals have been reported worldwide, PLOSL appears to be less common in other countries.
Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.
There is no specific treatment for KFD, but early hospitalization and supportive therapy is important. Supportive therapy includes the maintenance of hydration and the usual precautions for patients with bleeding disorders.
Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance . At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.
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.
What are the signs and symptoms of Hypomagnesemia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomagnesemia 6. 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 - Headache - Hypomagnesemia - Muscle weakness - Vertigo - 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.
How is chromosome 3p- syndrome diagnosed? There are several different specialized tests that can be used to diagnose a chromosome 3p- syndrome. These include: Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions. FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a duplication of a specific region of 3p. Array CGH - a technology that detects deletions that are too small to be seen on karyotype.
The different types of congenital fibrosis of the extraocular muscles have different patterns of inheritance. CFEOM1 and CFEOM3 are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. CFEOM2 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. Tukel syndrome also appears to have an autosomal recessive pattern of inheritance, although the genetic change responsible for this disorder is unknown.
NOMID is a very rare disorder; approximately 100 affected individuals have been reported worldwide.
These resources address the diagnosis or management of Kleefstra syndrome: - Gene Review: Gene Review: Kleefstra Syndrome - Genetic Testing Registry: Chromosome 9q 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 pigmented purpuric eruption? The cause of pigmented purpuric eruption is unknown. Occasionally, it occurs as a reaction to a medication, food additive, viral infection or following exercise. In rare cases, there appears to be a genetic component.
The severity and duration of an attack of shingles can be significantly reduced by immediate treatment with antiviral drugs, which include acyclovir, valcyclovir, or famcyclovir. Antiviral drugs may also help stave off the painful after-effects of shingles known as postherpetic neuralgia. Other treatments for postherpetic neuralgia include steroids, antidepressants, anticonvulsants (including pregabalin and gabapentin enacarbil), and topical agents. The varicella zoster virus vaccine (Zostavax) has been approved by teh food and Drug Administration for adults age 50 and older. Researchers found that giving older adults the vaccine reduced the expected number of later cases of shingles by half. And in people who still got the disease despite immunization, the severity and complications of shingles were dramatically reduced. The shingles vaccine is a preventive therapy and not a treatment for those who already have shingles or long-lasting nerve pain (postherpetic neuralgia).
Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Some patients with an infected cyst experience drainage which can result in a foul taste in the mouth. These symptoms may make feedings difficult and unpleasant. We recommend you speak with your childs healthcare provider regarding his symptom.
What treatment is available for meningeal hemangiopericytoma? Radical surgical resection with removal of all meningeal attachments is typically the preferred treatment. However this treatment option is generally possible in only 50-67% of patients who have meningeal hemangiopericytoma. Embolization prior to surgery is recommended because of the excessive bleeding associated with these tumors. Embolization is a method of stopping the blood flow to the tumor. This can be done mechanicially or through the use of chemicals that cause blood vessels to close. If chemicals that kill cells are used during embolization the procedure is referred to as chemoembolization.
What are the signs and symptoms of Deafness-infertility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Deafness-infertility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal spermatogenesis - Autosomal recessive inheritance - Bilateral sensorineural hearing impairment - Male infertility - Reduced sperm motility - 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.
What are the signs and symptoms of Pilomatrixoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilomatrixoma. 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 - Pilomatrixoma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
A blood test will show if you have hepatitis A. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis A.
The two types of VUR are primary and secondary. Most cases of VUR are primary and typically affect only one ureter and kidney. With primary VUR, a child is born with a ureter that did not grow long enough during the childs development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine refluxes from the bladder to the ureter and eventually to the kidney. This type of VUR can get better or disappear as a child gets older. As a child grows, the ureter gets longer and function of the valve improves. Secondary VUR occurs when a blockage in the urinary tract causes an increase in pressure and pushes urine back up into the ureters. Children with secondary VUR often have bilateral reflux. VUR caused by a physical defect typically results from an abnormal fold of tissue in the urethra that keeps urine from flowing freely out of the bladder. VUR is usually classified as grade I through V, with grade I being the least severe and grade V being the most severe.
The NINDS supports research on disorders of the brain, spinal cord, and peripheral nerves that can cause paresthesia. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them.
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes. Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people with MIDD. Individuals with MIDD also may experience muscle cramps or weakness, particularly during exercise; heart problems; kidney disease; and constipation. Individuals with MIDD are often shorter than their peers.
Hypochromic microcytic anemia with iron overload is likely a rare disorder; at least five affected families have been reported in the scientific literature.
In this test, a special dye is injected into your arm. Pictures are taken as the dye passes through the blood vessels in your retina. The test allows your eye care professional to identify any leaking blood vessels and recommend treatment.
La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states. The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). About 80-100 cases of this condition are reported each year in the United States. Most cases occur in children younger than age 16. While most people who become infected have no symptoms, those who do become ill may have fever, headache, vomiting and lethargy (tiredness). Severe cases develop encephalitis accompanied by seizures. Coma and paralysis occur in some cases. There is no specific treatment for LAC encephalitis. Supportive therapy is provided to those who develop severe cases of the disease.
Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Other features may include cleft palate, eye abnormalities, and hearing loss. TCS may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes. When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown.