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Familial juvenile hyperuricaemic nephropathy (FJHN) is an inherited condition that affects the kidneys. The signs and symptoms vary, even among members of the same family. Many individuals with this condition develop high blood levels of a waste product called uric acid. Normally, the kidneys remove uric acid from the blood and transfer it to urine. In FJHN, the kidneys are unable to remove uric acid from the blood effectively. Beginning in the early teens, FJHN causes gout and slowly progressive kidney disease, resulting in kidney failure. People with FJHN typically require either dialysis to remove wastes from the blood or a kidney transplant. FJHN is caused by mutations in the UMOD gene and is inherited in an autosomal dominant fashion.
Shaken baby syndrome is a type of inflicted traumatic brain injury that happens when a baby is violently shaken. A baby has weak neck muscles and a large, heavy head. Shaking makes the fragile brain bounce back and forth inside the skull and causes bruising, swelling, and bleeding, which can lead to permanent, severe brain damage or death. The characteristic injuries of shaken baby syndrome are subdural hemorrhages (bleeding in the brain), retinal hemorrhages (bleeding in the retina), damage to the spinal cord and neck, and fractures of the ribs and bones. These injuries may not be immediately noticeable. Symptoms of shaken baby syndrome include extreme irritability, lethargy, poor feeding, breathing problems, convulsions, vomiting, and pale or bluish skin. Shaken baby injuries usually occur in children younger than 2 years old, but may be seen in children up to the age of 5.
These resources address the diagnosis or management of idiopathic inflammatory myopathy: - Genetic Testing Registry: Idiopathic myopathy - Genetic Testing Registry: Inclusion body myositis - Johns Hopkins Myositis Center: Diagnosis - Johns Hopkins Myositis Center: Treatment - Muscular Dystrophy Association: Facts about Inflammatory Myopathies (Myositis) 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 process used to find out if cancer has spread within the brain or to other parts of the body is called staging. There is no standard system for staging childhood craniopharyngioma. Craniopharyngioma is described as newly diagnosed disease or recurrent disease. The results of the tests and procedures done to diagnose craniopharyngioma are used to help make decisions about treatment.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the calcium level in the blood can be controlled. - The stage of the cancer. - Whether the tumor and the capsule around the tumor can be completely removed by surgery. - The patient's general health.
Gray platelet syndrome appears to be a rare disorder. About 60 cases have been reported worldwide.
What causes gamma heavy chain disease? The causes or risk factors for gamma heavy chain disease are not known.
Mutations in the APRT gene cause APRT deficiency. This gene provides instructions for making APRT, an enzyme that helps to convert a DNA building block (nucleotide) called adenine to a molecule called adenosine monophosphate (AMP). This conversion occurs when AMP is needed as a source of energy for cells. APRT gene mutations lead to the production of an abnormal APRT enzyme with reduced function or prevent the production of any enzyme. A lack of functional enzyme impairs the conversion of adenine to AMP. As a result, adenine is converted to another molecule called 2,8-dihydroxyadenine (2,8-DHA). 2,8-DHA crystallizes in urine, forming stones in the kidneys and urinary tract. 2,8-DHA crystals are brownish in color, which explains why affected infants frequently have dark urine stains in their diapers. 2,8-DHA is toxic to kidneys, which may explain the possible decline in kidney function and the progression to ESRD.
Breast cancer is sometimes caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary breast cancer makes up about 5% to 10% of all breast cancer. Some mutated genes related to breast cancer are more common in certain ethnic groups. Women who have certain gene mutations, such as a BRCA1 or BRCA2 mutation, have an increased risk of breast cancer. These women also have an increased risk of ovarian cancer, and may have an increased risk of other cancers. Men who have a mutated gene related to breast cancer also have an increased risk of breast cancer. For more information, see the PDQ summary on Male Breast Cancer Treatment. There are tests that can detect (find) mutated genes. These genetic tests are sometimes done for members of families with a high risk of cancer. See the PDQ summary on Genetics of Breast and Gynecologic Cancers for more information.
A neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. Some people who develop neurofibromas have a genetic condition known as neurofibromatosis (NF). There are different types of NF, but type 1 is the most common.
What causes Leber hereditary optic neuropathy (LHON)? Leber hereditary optic neuropathy is a condition related to changes in mitochondrial DNA. Mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes cause LHON. These genes are contained in mitochondrial DNA. Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). The genes related to Leber hereditary optic neuropathy each provide instructions for making a protein involved in normal mitochondrial function. These proteins are part of a large enzyme complex in mitochondria that helps convert oxygen and simple sugars to energy. Mutations in any of the genes disrupt this process. It remains unclear how these genetic changes cause the death of cells in the optic nerve and lead to the specific features of Leber hereditary optic neuropathy. Click here to visit the Genetic Home Reference Web site to learn more about how mutations in these genes cause Leber hereditary optic neuropathy.
Signs of bile duct cancer include jaundice and pain in the abdomen. These and other signs and symptoms may be caused by bile duct cancer or by other conditions. Check with your doctor if you have any of the following: - Jaundice (yellowing of the skin or whites of the eyes). - Dark urine. - Clay colored stool. - Pain in the abdomen. - Fever. - Itchy skin. - Nausea and vomiting. - Weight loss for an unknown reason.
Mutations in the FGFR3 gene cause Crouzonodermoskeletal syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. It remains unclear how a mutation in the FGFR3 gene leads to the characteristic features of Crouzonodermoskeletal syndrome. This genetic change appears to disrupt the normal growth of skull bones and affect skin pigmentation.
Acral peeling skin syndrome is a rare condition, with several dozen cases reported in the medical literature. However, because its signs and symptoms tend to be mild and similar to those of other skin disorders, the condition is likely underdiagnosed.
Summary : If you have a disability or injury, you may use a number of assistive devices. These are tools, products or types of equipment that help you perform tasks and activities. They may help you move around, see, communicate, eat, or get dressed. Some are high-tech tools, such as computers. Others are much simpler, like a "reacher" - a tool that helps you grab an object you can't reach.
The name acromegaly comes from the Greek words for "extremities" and "enlargement," reflecting one of its most common symptomsthe abnormal growth of the hands and feet. Swelling of the hands and feet is often an early feature, with patients noticing a change in ring or shoe size, particularly shoe width. Gradually, bone changes alter the patient's facial features: The brow and lower jaw protrude, the nasal bone enlarges, and the teeth space out. Overgrowth of bone and cartilage often leads to arthritis. When tissue thickens, it may trap nerves, causing carpal tunnel syndrome, which results in numbness and weakness of the hands. Body organs, including the heart, may enlarge. Other symptoms of acromegaly include - joint aches - thick, coarse, oily skin - skin tags - enlarged lips, nose, and tongue - deepening of the voice due to enlarged sinuses and vocal cords - sleep apnea-breaks in breathing during sleep due to obstruction of the airway - excessive sweating and skin odor - fatigue and weakness - headaches - impaired vision - abnormalities of the menstrual cycle and sometimes breast discharge in women - erectile dysfunction in men - decreased libido
How is mixed connective tissue disease diagnosed? Mixed connective tissue disease (MCTD) is often suspected after a physical examination reveals signs and symptoms associated with the condition. The diagnosis is supported by a blood test that shows high levels of antibodies associated with MCTD.
Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but it can also occur in men. Adiposa dolorosa is chronic and tends to be progressive. The exact cause is unknown. Most cases are sporadic (not inherited) but a few familial cases with autosomal dominant inheritance have been reported. Treatment may include weight reduction; surgical removal or liposuction of lipomas; and pain management.
Proteinuriaalso called albuminuria or urine albuminis a condition in which urine contains an abnormal amount of protein. Albumin is the main protein in the blood. Proteins are the building blocks for all body parts, including muscles, bones, hair, and nails. Proteins in the blood also perform a number of important functions. They protect the body from infection, help blood clot, and keep the right amount of fluid circulating throughout the body. As blood passes through healthy kidneys, they filter out the waste products and leave in the things the body needs, like albumin and other proteins. Most proteins are too big to pass through the kidneys' filters into the urine. However, proteins from the blood can leak into the urine when the filters of the kidney, called glomeruli, are damaged. Proteinuria is a sign of chronic kidney disease (CKD), which can result from diabetes, high blood pressure, and diseases that cause inflammation in the kidneys. For this reason, testing for albumin in the urine is part of a routine medical assessment for everyone. Kidney disease is sometimes called renal disease. If CKD progresses, it can lead to end-stage renal disease (ESRD), when the kidneys fail completely. A person with ESRD must receive a kidney transplant or regular blood-cleansing treatments called dialysis.
Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessive trait.
Mutations in the CHD7 gene cause more than half of all cases of CHARGE syndrome. The CHD7 gene provides instructions for making a protein that most likely regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Most mutations in the CHD7 gene lead to the production of an abnormally short, nonfunctional CHD7 protein, which presumably disrupts chromatin remodeling and the regulation of gene expression. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome. About one-third of individuals with CHARGE syndrome do not have an identified mutation in the CHD7 gene. Researchers suspect that other genetic and environmental factors may be involved in these individuals.
How is Rotor syndrome diagnosed? Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice. There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both in their blood (hyperbilirubinemia), but having elevated levels of conjugated bilirubin is the hallmark of the disorder. Conjugated bilirubin in affected people is usually more than 50% of total bilirubin. To confirm a disgnosis of Rotor syndrome, a person may have the following performed: testing for serum bilirubin concentration testing for bilirubin in the urine testing for hemolysis and liver enzyme activity (to rule out other conditions) cholescintigraphy (also called an HIDA scan) testing for total urinary porphyrins
The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it appears to be rare. Several dozen cases have been reported in the medical literature. Researchers suspect that the disorder is underdiagnosed because its signs and symptoms vary and some of them are subtle.
Mutations in the MTTP gene cause abetalipoproteinemia. The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and the efficient transport of these substances in the bloodstream. Most of the mutations in the MTTP gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body. A lack of beta-lipoproteins causes the nutritional and neurological problems seen in people with abetalipoproteinemia.
How might achalasia be treated? The aim of treatment is to reduce the pressure at the lower esophageal sphincter. Therapy may involve: Injection with botulinum toxin (Botox) to help relax the sphincter muscles (used as a temporary fix) Medications, such as long-acting nitrates (i.e. isosorbide dinitrate) or calcium channel blockers (i.e. nifedipine), to relax the lower esophagus sphincter Surgery (Heller myotomy) to decrease the pressure in the lower sphincter Pneumatic balloon dilation of the esophagus at the location of the narrowing (done during esophagogastroduodenoscopy) You can learn more about these treatment options by clicking on the following links: eMedicine Esophageal Motility Disorders Merck Manuals Motility Disorders A doctor should help to determine the best treatment for each individual situation.
The prognosis for girls with Aicardi syndrome varies according to the severity of their symptoms. There is an increased risk for death in childhood and adolescence, but survivors into adulthood have been described.
These resources address the diagnosis or management of myopathy with deficiency of iron-sulfur cluster assembly enzyme: - Gene Review: Gene Review: Myopathy with Deficiency of ISCU - Genetic Testing Registry: Myopathy with lactic acidosis, hereditary - MedlinePlus Encyclopedia: Rhabdomyolysis 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 Doyne honeycomb retinal dystrophy inherited? Doyne honeycomb retinal dystrophy (DHRD) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. Children who do not inherit the mutated gene will not develop or pass on the disease.
Treatment of chronic eosinophilic leukemia may include the following: - Bone marrow transplant. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic eosinophilic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
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.
Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. It also causes a bluish appearance of the skin, lips, and nails (cyanosis), which usually first appears around the age of 6 months. The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. However, in rare cases, severe methemoglobinemia, beta-globin type can cause headaches, weakness, and fatigue.
Pulmonary arterial hypertension is usually sporadic, which means it occurs in individuals with no known family history of the disorder. These non-familial cases are described as idiopathic pulmonary arterial hypertension. About 20 percent of these cases are caused by mutations in one of the genes known to be associated with the disease, but most of the time a causative gene mutation has not been identified. Inherited cases of this disorder are known as familial pulmonary arterial hypertension. When the condition is inherited, it most often has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. However, many people with an altered gene never develop pulmonary arterial hypertension; this phenomenon is called reduced penetrance.
How is hereditary multiple osteochondromas inherited? HMO is caused by mutations in the EXT1 and EXT2 genes. It is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause this condition. In most cases, an affected individual 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 condition in their family. Most affected individuals (96%) that have inherited a gene mutation from their parent show signs and symptoms of this condition. However, the family history may appear negative because of the failure to recognize the disorder in family members and/or reduced penetrance. Reports have suggested that some females may not show clinical features of HMO but still have the gene mutation that causes this condition.
African iron overload seems to run in families, and high iron in a family's diet seems to be the major contributor to development of the condition. There also may be a genetic contribution, but the inheritance pattern is unknown. People with a specific variation in the SLC40A1 gene may inherit an increased risk of this condition, but not the condition itself. Not all people with this condition have the variation in the gene, and not all people with the variation will develop the disorder.
Schwannomas are tumors of the tissue that covers the nerves (nerve sheath). These tumors develop from a type of cell called a Schwann cell, which gives these tumors their name. They are usually benign (not cancerous). Although schwannomas can arise from any nerve in the body, the most common areas include the nerves of the head and neck and those involved with moving the arms and legs. Common symptoms include a slow-growing mass and Tinel's sign (an electric-like shock when the affected area is touched). The cause of schwannomas is unknown, but they sometimes occur in people with certain disorders including some types of neurofibromatosis. Benign schwannomas are typically treated with surgery.
Hyperthyroidism has many symptoms that can vary from person to person. Some common symptoms of hyperthyroidism are - nervousness or irritability - fatigue or muscle weakness - heat intolerance - trouble sleeping - hand tremors - rapid and irregular heartbeat - frequent bowel movements or diarrhea - weight loss - mood swings - goiter, which is an enlarged thyroid that may cause the neck to look swollen and can interfere with normal breathing and swallowing
Scientists have not yet found a way to prevent PKD. However, people with PKD may slow the progression of kidney damage caused by high blood pressure through lifestyle changes, diet, and blood pressure medications. People with PKD should be physically active 30 minutes a day most days of the week. See Eating, Diet, and Nutrition for diet advice on lowering blood pressure and slowing the progression of kidney disease in general. If lifestyle and diet changes do not control a persons blood pressure, a health care provider may prescribe one or more blood pressure medications, including ACE inhibitors or ARBs.
Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to several days of intravenous corticosteroids such as methylprednisolone, followed by oral corticosteroid treatment. When corticosteroids fail to work, plasmapheresis or intravenous immunoglobulin therapy are possible secondary treatment options that are reported to help in some severe cases. Additional treatment is symptomatic and supportive.
Viral hepatitis is inflammation of the liver caused by a virus. Several different viruses, named the hepatitis A, B, C, D, and E viruses, cause viral hepatitis. All of these viruses cause acute, or short-term, viral hepatitis. The hepatitis B, C, and D viruses can also cause chronic hepatitis, in which the infection is prolonged, sometimes lifelong. Chronic hepatitis can lead to cirrhosis, liver failure, and liver cancer. Researchers are looking for other viruses that may cause hepatitis, but none have been identified with certainty. Other viruses that less often affect the liver include cytomegalovirus; Epstein-Barr virus, also called infectious mononucleosis; herpesvirus; parvovirus; and adenovirus.
These resources address the diagnosis or management of fragile XE syndrome: - Centers for Disease Control and Prevention: Developmental Screening Fact Sheet - Genetic Testing Registry: FRAXE 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 FLNA gene cause Melnick-Needles syndrome. The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell. A small number of mutations in the FLNA gene have been identified in people with Melnick-Needles syndrome. These mutations are described as "gain-of-function" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of Melnick-Needles syndrome.
Enzyme replacement therapy is available for most people with types 1 and 3 Gaucher disease. Given intravenously every two weeks, this therapy decreases liver and spleen size, reduces skeletal abnormalities, and reverses other symptoms of the disorder. The U.S. Food and Drug Administration has approved eligustat tartrate for Gaucher treatment, which works by administering small molecules that reduce the action of the enzyme that catalyzes glucose to ceramide. Surgery to remove the whole or part of the spleen may be required on rare occasions, and blood transfusions may benefit some anemic individuals. Other individuals may require joint replacement surgery to improve mobility and quality of life. There is no effective treatment for severe brain damage that may occur in persons with types 2 and 3 Gaucher disease.
Autoimmune polyglandular syndrome, type 1 is thought to be a rare condition, with about 500 cases reported worldwide. This condition occurs more frequently in certain populations, including Iranian Jews, Sardinians, and Finns.
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.
No genes associated with retroperitoneal fibrosis have been identified. Retroperitoneal fibrosis occasionally occurs with autoimmune disorders, which result when the immune system malfunctions and attacks the body's own organs and tissues. Researchers suggest that the immune system may be involved in the development of retroperitoneal fibrosis. They propose that the immune system may be reacting abnormally to blood vessels damaged by fatty buildup (atherosclerosis) or to certain drugs, infections, or trauma. In many cases, the reason for the abnormal immune system reaction is unknown. Such cases are described as idiopathic.
These resources address the diagnosis or management of familial adenomatous polyposis: - American Medical Association and National Coalition for Health Professional Education in Genetics: Understand the Basics of Genetic Testing for Hereditary Colorectal Cancer - Gene Review: Gene Review: APC-Associated Polyposis Conditions - Gene Review: Gene Review: MUTYH-Associated Polyposis - GeneFacts: Familial Adenomatous Polyposis: Diagnosis - GeneFacts: Familial Adenomatous Polyposis: Management - Genetic Testing Registry: Desmoid disease, hereditary - Genetic Testing Registry: Familial adenomatous polyposis 1 - Genetic Testing Registry: Familial multiple polyposis syndrome - Genetic Testing Registry: MYH-associated polyposis - Genomics Education Programme (UK): Familial Adenomatous Polyposis - Genomics Education Programme (UK): MYH-Associated Polyposis - MedlinePlus Encyclopedia: Colon Cancer - MedlinePlus Encyclopedia: Colorectal polyps - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes 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 22q13.3 deletion syndrome: - Gene Review: Gene Review: Phelan-McDermid Syndrome - Genetic Testing Registry: 22q13.3 deletion syndrome - MedlinePlus Encyclopedia: Sweating--absent 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
Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream. Mutations in either gene impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other ions, including ions of potassium, magnesium, and calcium. The resulting imbalance of ions in the body underlies the major features of Gitelman syndrome.
Mutations in the WRN gene cause Werner syndrome. The WRN gene provides instructions for producing the Werner protein, which is thought to perform several tasks related to the maintenance and repair of DNA. This protein also assists in the process of copying (replicating) DNA in preparation for cell division. Mutations in the WRN gene often lead to the production of an abnormally short, nonfunctional Werner protein. Research suggests that this shortened protein is not transported to the cell's nucleus, where it normally interacts with DNA. Evidence also suggests that the altered protein is broken down more quickly in the cell than the normal Werner protein. Researchers do not fully understand how WRN mutations cause the signs and symptoms of Werner syndrome. Cells with an altered Werner protein may divide more slowly or stop dividing earlier than normal, causing growth problems. Also, the altered protein may allow DNA damage to accumulate, which could impair normal cell activities and cause the health problems associated with this condition.
Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected. Symptoms in women include - Yellow-green or gray discharge from the vagina - Discomfort during sex - Vaginal odor - Painful urination - Itching in or near the vagina Most men do not have symptoms. If they do, they may have a whitish discharge from the penis and painful or difficult urination and ejaculation. Lab tests can tell if you have the infection. Treatment is with antibiotics. If you are infected, you and your partner must be treated. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading trichomoniasis. NIH: National Institute of Allergy and Infectious Diseases
Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. This condition can be caused by brain malformations, perinatal asphyxia (lack of oxygen), severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In about one-third of cases, no cause can be found. Treatment for Lennox-Gastaut syndrome includes anti-epileptic medications such as valproate, lamotrigine, felbamate, or topiramate. There is usually no single antiepileptic medication that will control seizures. Children may improve initially, but many later show tolerance to a drug or develop uncontrollable seizures.
Summary : Taking home a new baby is one of the happiest times in a woman's life. But it also presents both physical and emotional challenges. - Get as much rest as possible. You may find that all you can do is eat, sleep, and care for your baby. And that is perfectly okay. You will have spotting or bleeding, like a menstrual period, off and on for up to six weeks. - You might also have swelling in your legs and feet, feel constipated, have menstrual-like cramping. Even if you are not breastfeeding, you can have milk leaking from your nipples, and your breasts might feel full, tender, or uncomfortable. - Follow your doctor's instructions on how much activity, like climbing stairs or walking, you can do for the next few weeks. - Doctors usually recommend that you abstain from sexual intercourse for four to six weeks after birth. In addition to physical changes, you may feel sad or have the "baby blues." If you are extremely sad or are unable to care for yourself or your baby, you might have a serious condition called postpartum depression. Dept. of Health and Human Services Office on Women's Health
These resources address the diagnosis or management of optic atrophy type 1: - Gene Review: Gene Review: Optic Atrophy Type 1 - Genetic Testing Registry: Dominant hereditary optic atrophy - MedlinePlus Encyclopedia: Optic Nerve Atrophy - MedlinePlus Encyclopedia: Visual Acuity Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
This condition is inherited in an autosomal 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.
Yes. Although most cataracts are related to aging, there are other types of cataract. These include - secondary cataract - traumatic cataract - congenital cataract - radiation cataract. secondary cataract traumatic cataract congenital cataract radiation cataract. Secondary cataracts can form after surgery for other eye problems, such as glaucoma. They also can develop in people who have other health problems, such as diabetes. Secondary cataracts are sometimes linked to steroid use. Traumatic cataracts can develop after an eye injury, sometimes years later. Some babies are born with cataracts or develop them in childhood, often in both eyes. These congenital cataracts may be so small that they do not affect vision. If they do, the lenses may need to be removed. Radiation cataracts can develop after exposure to some types of radiation.
Is a pilomatrixoma inherited? Most isolated (without other signs and symptoms) pilomatrixomas are not inherited. However, more than one family member can rarely be affected, which suggests there may be a hereditary component in some cases. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. In these cases, affected people usually have other characteristic signs and symptoms of the associated condition. All three of these conditions are inherited in an autosomal dominant manner. 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.
Proximal neuropathy, sometimes called lumbosacral plexus neuropathy, femoral neuropathy, or diabetic amyotrophy, starts with pain in the thighs, hips, buttocks, or legs, usually on one side of the body. This type of neuropathy is more common in those with type 2 diabetes and in older adults with diabetes. Proximal neuropathy causes weakness in the legs and the inability to go from a sitting to a standing position without help. Treatment for weakness or pain is usually needed. The length of the recovery period varies, depending on the type of nerve damage.
Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth. Other treatment is symptomatic and supportive.
Mutations in the COL18A1 gene can cause Knobloch syndrome. The COL18A1 gene provides instructions for making a protein that forms collagen XVIII, which is found in the basement membranes of tissues throughout the body. Basement membranes are thin, sheet-like structures that separate and support cells in these tissues. Collagen XVIII is found in the basement membranes of several parts of the eye, including the vitreous and retina, among other tissues. Little is known about the function of this protein, but it appears to be involved in normal development of the eye. Several mutations in the COL18A1 gene have been identified in people with Knobloch syndrome. Most COL18A1 gene mutations lead to an abnormally short version of the genetic blueprint used to make the collagen XVIII protein. Although the process is unclear, the COL18A1 gene mutations result in the loss of collagen XVIII protein, which likely causes the signs and symptoms of Knobloch syndrome. When the condition is caused by COL18A1 gene mutations, it is sometimes referred to as Knobloch syndrome type I. Research indicates that mutations in at least two other genes that have not been identified may cause Knobloch syndrome types II and III. Although they are caused by alterations in different genes, the three types of the condition have similar signs and symptoms.
Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. To view the contact information for the clinical laboratories, conducting testing for lattice dystrophy type 1 and 3a click here. To access the contact information for the research laboratories performing genetic testing for lattice dystrophy type 3 click here.
Summary : The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. A pancreas transplant is surgery to place a healthy pancreas from a donor into a person with a diseased pancreas. It is mostly done for people with severe type 1 diabetes. It can allow them to give up insulin shots. An experimental procedure called islet cell transplantation transplants only the parts of the pancreas that make insulin. People who have transplants must take drugs to keep their body from rejecting the new pancreas for the rest of their lives. They must also have regular follow-up care. Because of the risks, it is not a common treatment for type 1 diabetes.
Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain. These malformed blood vessels are called arteriovenous malformations (AVM). Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown. Individuals with this condition may have additional AVMs in other parts of the body, particularly the face. The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs. Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis). Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.
Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells to help carry oxygen. CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or they prevent the protein from being released (secreted) by the cells in which it is made. When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction, and the other health problems seen in aceruloplasminemia.
Fourteen of the 26 bones in your feet are in your toes. The toes, particularly your big toe, help you move and keep your balance. Playing sports, running, and receiving a blow to the foot can damage your toes. Wearing shoes that are too loose or too tight can also cause toe problems. Certain diseases, such as severe arthritis, can cause toe problems and pain. Gout often causes pain in the big toe. Common toe problems include - Corns and bunions - Ingrown toenails - Toe joint sprains and dislocations - Fractured toe bones Treatments for toe injuries and disorders vary. They might include shoe inserts or special shoes, padding, taping, medicines, rest, and in severe cases, surgery.
Treatment of the periodic paralyses focuses on preventing further attacks and relieving acute symptoms. Avoiding carbohydrate-rich meals and strenuous exercise, and taking acetazolamide daily may prevent hypokalemic attacks. Attacks can be managed by drinking a potassium chloride oral solution. Eating carbohydrate-rich, low-potassium foods, and avoiding strenuous exercise and fasting, can help prevent hyperkalemic attacks. Dichorphenamide may prevent attacks.
Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Developmental dyspraxia is a lifelong disorder. Many individuals are able to compensate for their disabilities through occupational and speech therapy.
Ankylosing spondylitis (AS) is a type of chronic, inflammatory arthritis that mainly affects the spine. It usually begins with inflammation of the joints between the pelvic bones and spine, gradually spreading to the joints between the vertebrae. Signs and symptoms usually begin in adolescence or early adulthood and may include back pain and stiffness. Back movement gradually becomes more limited as the vertebrae fuse together. The condition may also affect the shoulders; ribs; hips; knees; and feet; as well as the eyes; bowel; and very rarely, the heart and lungs. AS is likely caused by a combination of genetic and environmental factors; variations in several genes are thought to affect the risk to develop AS. In most cases, treatment involves exercise and medications to relieve pain and inflammation.
The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood. There are more than 600 neurologic diseases. Major types include - Diseases caused by faulty genes, such as Huntington's disease and muscular dystrophy - Problems with the way the nervous system develops, such as spina bifida - Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease - Diseases of the blood vessels that supply the brain, such as stroke - Injuries to the spinal cord and brain - Seizure disorders, such as epilepsy - Cancer, such as brain tumors - infections, such as meningitis
There is no specific treatment for PVL. Treatment is symptomatic and supportive. Children with PVL should receive regular medical screenings to determine appropriate interventions.
FOXG1 syndrome appears to be rare. At least 30 affected individuals have been described in the medical literature.
Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome).
- Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings. - The first symptom of biliary atresia is jaundicewhen the skin and whites of the eyes turn yellow. Other symptoms include dark urine, gray or white stools, and slow weight gain and growth. - Biliary atresia likely has multiple causes, though none is yet proven. - No single test can definitively diagnose biliary atresia, so a series of tests is needed, including a blood test, abdominal x ray, ultrasound, liver scans, liver biopsy, and diagnostic surgery. - Initial treatment for biliary atresia is usually the Kasai procedure, an operation where the bile ducts are removed and a loop of intestine is brought up to replace them. - The definitive treatment for biliary atresia is liver transplant. - After a liver transplant, a regimen of medications is used to prevent the immune system from rejecting the new liver. Health care providers may also prescribe blood pressure medications and antibiotics, along with special diets and vitamin supplements.
Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 2,500 individuals.
What causes tumor necrosis factor receptor-associated periodic syndrome (TRAPS)? TRAPS is a genetic condition caused by mutations in a gene called TNFRSF1A. This gene gives the body instructions to make a protein called tumor necrosis factor receptor 1 (TNFR1). This protein exists in cell membranes where it binds to another protein called tumor necrosis factor (TNF). The binding sends signals that tell the cells to trigger inflammation (producing immune system proteins) or self-destruct. Most TNFRSF1A gene mutations that cause TRAPS result in incorrectly-shaped TNFR1 proteins, which become trapped in cells and cannot reach the surface to bind with TNF. The trapped proteins then clump together and are thought to trigger other pathways involved in causing inflammation. Affected people typically have a mutation in only one of their 2 copies of the TNFRSF1A gene, so some normal TNFR1 proteins are still produced, leading to even more inflammation. This is what leads to excess inflammation in people with TRAPS. It is unclear if abnormalities in the cells' ability to self-destruct also plays a role in causing the features of TRAPS.
Without surgery, the majority of individuals with Moyamoya disease will experience mental decline and multiple strokes because of the progressive narrowing of arteries.Without treatment,Moyamoya diseasecan be fatal as the result ofintracerebral hemorrhage (bleeding within the brain).
Visceral toxocariasis can be treated with antiparasitic drugs such as albendazole or mebendazole. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye. More on: Resources For Health Professionals: Treatment
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.
Clear cell renal cell carcinoma is a cancer of the kidney. The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258] Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass). Though the exact cause of clear cell renal cell carcinoma is unknown, smoking, the excessive use of certain medications, and several genetic predisposition conditions (such as von Hippel Lindau syndrome) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.
What are the signs and symptoms of Prekallikrein deficiency, congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Prekallikrein deficiency, congenital. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Prolonged partial thromboplastin time - 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 primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile acids and plasmalogens.
What are the signs and symptoms of Dwarfism, proportionate with hip dislocation? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism, proportionate with hip dislocation. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hip dislocation - Severe short stature - 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 SH2D1A and XIAP genes cause XLP. SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2. The SH2D1A gene provides instructions for making a protein called signaling lymphocyte activation molecule (SLAM) associated protein (SAP). This protein is involved in the functioning of lymphocytes that destroy other cells (cytotoxic lymphocytes) and is necessary for the development of specialized T cells called natural killer T cells. The SAP protein also helps control immune reactions by triggering self-destruction (apoptosis) of cytotoxic lymphocytes when they are no longer needed. Some SH2D1A gene mutations impair SAP function. Others result in an abnormally short protein that is unstable or nonfunctional, or prevent any SAP from being produced. The loss of functional SAP disrupts proper signaling in the immune system and may prevent the body from controlling the immune reaction to EBV infection. In addition, lymphomas may develop when defective lymphocytes are not properly destroyed by apoptosis. The XIAP gene provides instructions for making a protein that helps protect cells from undergoing apoptosis in response to certain signals. XIAP gene mutations can lead to an absence of XIAP protein or decrease the amount of XIAP protein that is produced. It is unknown how a lack of XIAP protein results in the signs and symptoms of XLP, or why features of this disorder differ somewhat between people with XIAP and SH2D1A gene mutations.
Benign familial neonatal seizures occurs in approximately 1 in 100,000 newborns.
This condition is inherited in an autosomal dominant, male-limited pattern, which means one copy of the altered LHCGR gene in each cell is sufficient to cause the disorder in males. Females with mutations associated with familial male-limited precocious puberty appear to be unaffected. In some cases, an affected male inherits the mutation from either his mother or his father. Other cases result from new mutations in the gene and occur in males with no history of the disorder in their family.
How is fibrolamellar carcinoma diagnosed? If fibrolamellar carcinoma (FLC) is suspected based on the presence of certain signs and symptoms, imaging studies such as ultrasound, MRI scan and/or CT scan are typically recommended for diagnosis and staging. Unlike other forms of liver cancer, serum alpha fetoprotein is typically not elevated in FLC. Medscape Reference's Web site offers more specific information on the diagnosis of FLC. Please click on the link to access this resource.
Mnire's disease is an abnormality of the inner ear. Signs and symptoms may include disabling vertigo or severe dizziness lasting from minutes to hours; tinnitus or a roaring sound in the ears; fluctuating hearing loss; and the sensation of pressure or pain in the affected ear. A small percentage of people have drop attacks, also called spells of Tumarkin. The disorder usually affects only one ear and is a common cause of hearing loss. Some people develop symptoms in both ears many years after their initial diagnosis. The exact cause of Mnire's disease is unknown, but the symptoms are thought to be associated with a change in fluid volume within a portion of the inner ear known as the labyrinth. Treatment may include medications or surgery depending on the severity of the condition.
What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter blood. If these tissues are abnormal, red blood cells may be allowed to enter the urinary space, leading to both loin pain and hematuria (blood in the urine). Other factors that may lead to the signs and symptoms of LPHS include: Blood disorders, called coagulopathies, which impair the bloods ability to clot Spasms in the kidney's blood vessels which may restrict blood flow to certain tissues and lead to tissue death Up to 50% of people affected by LPHS also experience kidney stones. Some scientists, therefore, suspect that the formation of crystals and/or stones in the kidney may also contribute to the condition as they may block or injure the renal tubules (the long narrow tubes in the kidney that concentrate and transport urine).
The prognosis for craniosynostosis varies depending on whether single or multiple cranial sutures are involved or other abnormalities are present. The prognosis is better for those with single suture involvement and no associated abnormalities.
Wolmans disease is usually fatal by age 1. The onset and course of cholesteryl ester storage disease varies, and individuals may live into adulthood.
Mutations in the ALMS1 gene cause Alstrm syndrome. The ALMS1 gene provides instructions for making a protein whose function is unknown. Mutations in this gene probably lead to the production of an abnormally short, nonfunctional version of the ALMS1 protein. This protein is normally present at low levels in most tissues, so a loss of the protein's normal function may help explain why the signs and symptoms of Alstrm syndrome affect many parts of the body.
Drug therapy including verapamil may help to reduce the severity and duration of attacks of paralysis associated with the more serious form of alternating hemiplegia
Problems with the penis can cause pain and affect a man's sexual function and fertility. Penis disorders include - Erectile dysfunction - inability to get or keep an erection - Priapism - a painful erection that does not go away - Peyronie's disease - bending of the penis during an erection due to a hard lump called a plaque - Balanitis - inflammation of the skin covering the head of the penis, most often in men and boys who have not been circumcised - Penile cancer - a rare form of cancer, highly curable when caught early
What causes Ehlers-Danlos syndrome, vascular type? Ehlers-Danlos syndrome (EDS), vascular type is caused by changes (mutations) in the COL3A1 gene. The COL3A1 gene provides instructions for making a component of type III collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type III collagen, specifically, is found in tissues such as the skin, lungs, intestinal walls, and the walls of blood vessels. Mutations in the COL3A1 gene lead to defects in type III collagen molecules and/or reduced amounts of functional type III collagen. This causes the many signs and symptoms associated with EDS, vascular type.
The NINDS supports and conducts research on neurogenetic disorders such as Angelman syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them.
Sexual abuse is one form of child abuse. It includes a wide range of actions between a child and an adult or older child. Often these involve body contact, but not always. Exposing one's genitals to children or pressuring them for sex is sexual abuse. Using a child for pornography is also sexual abuse. Most sexual abusers know the child they abuse. They may be family friends, neighbors or babysitters. About one-third of abusers are related to the child. Most abusers are men. If you think a child may have been abused, it's important to report it.
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. In men the urethra is long, while in women it is short. Kidneys work at the microscopic level. The kidney is not one large filter. Each kidney is made up of about a million filtering units called nephrons. Each nephron filters a small amount of blood. The nephron includes a filter, called the glomerulus, and a tubule. The nephrons work through a two-step process. The glomerulus lets fluid and waste products pass through it; however, it prevents blood cells and large molecules, mostly proteins, from passing. The filtered fluid then passes through the tubule, which sends needed minerals back to the bloodstream and removes wastes. The final product becomes urine.
The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those afflicted to eventually function independently in society. Others are not. Some infants, children, and adults die; others remain totally disabled; and an even larger population is partially disabled, functioning well below normal capacity.
Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal cord. It happens if the spinal column of the fetus doesn't close completely during the first month of pregnancy. This can damage the nerves and spinal cord. Screening tests during pregnancy can check for spina bifida. Sometimes it is discovered only after the baby is born. The symptoms of spina bifida vary from person to person. Most people with spina bifida are of normal intelligence. Some people need assistive devices such as braces, crutches, or wheelchairs. They may have learning difficulties, urinary and bowel problems, or hydrocephalus, a buildup of fluid in the brain. The exact cause of spina bifida is unknown. It seems to run in families. Taking folic acid can reduce the risk of having a baby with spina bifida. It's in most multivitamins. Women who could become pregnant should take it daily. NIH: National Institute of Neurological Disorders and Stroke
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to Todd's paralysis in its clinics and laboratories at The National Institutes of Health (NIH), and supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding successful methods to prevent Todd's paralysis in individuals with epilepsy.

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