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Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turci...
These resources address the diagnosis or management of Nager syndrome: - Genetic Testing Registry: Nager syndrome - University of California San Francisco Medical Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th...
Most cases of cryptogenic cirrhosis are not inherited. However, people with a family history of liver disease or autoimmune disease are at an increased risk of developing these diseases themselves, and possibly cirrhosis. In individuals with an associated keratin gene mutation, the risk of developing cryptogenic cirrh...
There are many reasons why you might have bad breath. You can get it if you don't brush and floss regularly. Bacteria that build up in your mouth and between your teeth produce the bad odor. Other problems in your mouth, such as gum disease, dry mouth or cavities, may also cause it. Sinusitis or problems with your nose...
Antisynthetase syndrome is a chronic autoimmune condition that affects the muscles and various other parts of the body. The signs and symptoms can vary but may include muscle inflammation (myositis), polyarthritis (inflammation of many joints), interstitial lung disease and Raynaud phenomenon. The exact underlying caus...
Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve an...
Ring chromosome 14 syndrome appears to be a rare condition, although its prevalence is unknown. More than 50 affected individuals have been reported in the medical literature.
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 causes Behcet's disease? The exact cause of Behet's disease is unknown. Most symptoms of the disease are caused by inflammation of the blood vessels. Inflammation is a characteristic reaction of the body to injury or disease and is marked by four signs: swelling, redness, heat, and pain. Doctors think that an auto...
What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the pr...
The NINDS supports research on movement disorders such as chorea. The goals of this research are to increase understanding of these disorders and to find ways to prevent and treat them.
How might Cowden syndrome be treated? Because Cowden syndrome is associated with an increased risk for certain types of cancer, management is typically focused on high-risk cancer screening. According to the National Comprehensive Cancer Network 2014, the recommended screening protocol for Cowden syndrome includes: Can...
Manitoba oculotrichoanal syndrome is caused by mutations in the FREM1 gene. The FREM1 gene provides instructions for making a protein that is involved in the formation and organization of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. The FREM1 protein is one...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to PML in laboratories at the NIH, and support additional research through grants to majorresearch institutions across the country. Much of this research focuses o...
Microcephaly-capillary malformation syndrome is rare. About a dozen people have been diagnosed with the disorder.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
How might chronic progressive external ophthalmoplegia be treated? Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a ptosis crutch to lift the upper eyelids. Strabismus surgery can be helpful in carefully selected patients if diplopia (doub...
Mutations in the HADHA and HADHB genes cause mitochondrial trifunctional protein deficiency. These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name sugges...
These resources address the diagnosis or management of Unverricht-Lundborg disease: - Gene Review: Gene Review: Unverricht-Lundborg Disease - Genetic Testing Registry: Unverricht-Lundborg syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - ...
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.
Summary : Computed tomography (CT) is a type of imaging. It uses special x-ray equipment to make cross-sectional pictures of your body. Doctors use CT scans to look for - Broken bones - Cancers - Blood clots - Signs of heart disease - Internal bleeding During a CT scan, you lie still on...
These resources address the diagnosis or management of psoriatic arthritis: - American Society for Surgery of the Hand - Genetic Testing Registry: Psoriatic arthritis, susceptibility to - The Johns Hopkins Arthritis Center These resources from MedlinePlus offer information about the diagnosis and management of var...
These resources address the diagnosis or management of carbamoyl phosphate synthetase I deficiency: - Baby's First Test - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Congenital hyperammonemia, type I - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resour...
What causes schizencephaly? The exact cause of schizencephaly is unknown. A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Rarely, schizencephaly can affect more than one family member. This supports a genetic cause in some cases. Schi...
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. However, some people who inherit the altered gene never develop features of TRAPS. (This situation is known as reduced penetrance.) It is unclear why some people with ...
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - Whether the tumor is nonseminoma or seminoma. - The size of the tumor and where it is in the body. - The blood levels of AFP, -hCG, and LDH. ...
How is Sotos syndrome inherited? Sotos syndrome is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene (the NSD1 gene) is enough to cause signs and symptoms of the condition. 95% of people with Sotos syndrome do not inherit the condition from ...
Blood pressure is the force of blood pushing against blood vessel walls as the heart pumps out blood, and high blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the body. Factors that can increase this force include higher blood volume...
These resources address the diagnosis or management of Wagner syndrome: - Gene Review: Gene Review: VCAN-Related Vitreoretinopathy - Genetic Testing Registry: Wagner syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Dr...
Stool or urine samples can be examined microscopically for parasite eggs (stool for S. mansoni or S. japonicum eggs and urine for S. haematobium eggs). The eggs tend to be passed intermittently and in small amounts and may not be detected, so it may be necessary to perform a blood (serologic) test. More on: Resour...
The causes of essential tremor are unknown. Researchers are studying several areas (loci) on particular chromosomes that may be linked to essential tremor, but no specific genetic associations have been confirmed. Several genes as well as environmental factors likely help determine an individual's risk of developing th...
Potocki-Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a deleted segment from an affected parent. More commonly, the conditio...
Any child can get a UTI, though girls get UTIs more often than boys. Children with a condition called vesicoureteral reflux (VUR) are at higher risk for UTIs. VUR causes urine to reflux at the point where one or both ureters attach to the bladder. When urine stays in the urinary tract, bacteria have a ...
What are the signs and symptoms of Long QT syndrome 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT syndrome 8. 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 Diction...
Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. Peo...
Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and...
Myasthenia gravis can be controlled. Some medications improve neuromuscular transmission and increase muscle strength, and some suppress the production of abnormal antibodies. These medications must be used with careful medical follow up because they may cause major side effects. Thymectomy, the surgical removal of the...
How might blue rubber bleb nevus syndrome be treated? Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the ...
Treatment is symptomatic and varies, according to the type and severity of the encephalopathy. Your physician can provide specific instructions for proper care and treatment. Anticonvulsants may be prescribed to reduce or halt any seizures. Changes to diet and nutritional supplements may help some patients. In severe c...
Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these ...
Isolated Pierre Robin sequence is usually not inherited. It typically results from new genetic changes and occurs in people with no history of the disorder in their family. When the condition is inherited, it follows an autosomal dominant pattern, which means one copy of the altered DNA in each cell is sufficient to ca...
How might Best vitelliform macular dystrophy be treated? There is no specific treatment for Best vitelliform macular dystrophy (BVMD) at this time. Low vision aids help affected people with significant loss of visual acuity. Laser photocoagulation, photodynamic therapy, and anti-VEGF (vascular endothelial growth factor...
These resources address the diagnosis or management of Nakajo-Nishimura syndrome: - Genetic Testing Registry: Nakajo syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Geneti...
Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). Signs and symptoms may include flu-like symptoms such as cough, fever, malaise, fatigue and weight loss. COP often a...
Too much cholesterol in your blood is called high blood cholesterol. It can be serious. People with high blood cholesterol have a greater chance of getting heart disease. High blood cholesterol does not cause symptoms, so you may not be aware that your cholesterol level is too high.
Generally, paroxysmal choreoathetosis lessens with age, and many adults have a complete remission. Because drug therapy is so effective, the prognosis for the disorder is good.
The most frequently recommended treatment for pinched nerve is rest for the affected area. Nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids may be recommended to help alleviate pain. Physical therapy is often useful, and splints or collars may be used to relieve symptoms. Depending on the cause and seve...
Mutations in the TREM2 gene or the TYROBP gene (also called DAP12) can cause PLOSL. The proteins produced from these two genes work together to activate certain kinds of cells. These proteins appear to be particularly important in osteoclasts, which are specialized cells that break down and remove (resorb) bone tissue ...
These resources address the diagnosis or management of autosomal recessive congenital methemoglobinemia: - Genetic Testing Registry: METHEMOGLOBINEMIA, TYPE I - Genetic Testing Registry: Methemoglobinemia type 2 - KidsHealth from Nemours: Blood Test: Hemoglobin - MedlinePlus Encyclopedia: Hemoglobin - MedlinePlus ...
Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes...
These resources address the diagnosis or management of congenital hepatic fibrosis: - Gene Review: Gene Review: Congenital Hepatic Fibrosis Overview - Genetic Testing Registry: Congenital hepatic fibrosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditi...
These resources address the diagnosis or management of aceruloplasminemia: - Gene Review: Gene Review: Aceruloplasminemia - Genetic Testing Registry: Deficiency of ferroxidase These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - D...
What causes dihydrolipoamide dehydrogenase deficiency? Dihydrolipoamide dehydrogenase (DLD) deficiency is caused by changes (mutations) in the DLD gene. This gene gives the body instructions to make an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one part of 3 different groups of enzymes that work togethe...
People who think they have had a gallbladder attack should notify their health care provider. Although these attacks usually resolve as gallstones move, complications can develop if the bile ducts remain blocked. People with any of the following symptoms during or after a gallbladder attack should see ...
Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attache...
Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from the EVC and EVC2 genes are thought to help regulate the S...
Acatalasemia is a condition characterized by very low levels of an enzyme called catalase. Many people with acatalasemia never have any health problems related to the condition and are diagnosed because they have affected family members. Some of the first reported individuals with acatalasemia developed open sores (ul...
IBM is generally resistant to all therapies and its rate of progression appears to be unaffected by currently available treatments.
Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterize...
Symptoms of palpitations include feelings that your heart is: Skipping a beat Fluttering Beating too hard or too fast You may have these feelings in your chest, throat, or neck. They can occur during activity or even when you're sitting still or lying ...
These resources address the diagnosis or management of AEC syndrome: - Gene Review: Gene Review: TP63-Related Disorders - Genetic Testing Registry: Hay-Wells syndrome of ectodermal dysplasia - Genetic Testing Registry: Rapp-Hodgkin ectodermal dysplasia syndrome These resources from MedlinePlus offer information ab...
Mutations in the RECQL4 gene cause RAPADILINO syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (repli...
Mutations in the MECP2 gene cause PPM-X syndrome. The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by switching them off when they are not needed. ...
How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions. In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to hel...
Symptoms of brain and spinal cord tumors generally develop slowly and worsen over time unless they are treated. The tumor may be classified as benign or malignant and given a numbered score that reflects its rate of malignancy. This score can help doctors determine how to treat the tumor and predict the likely outcome,...
Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). The disorder usually occurs in children between age 2 and 8. Typically, children with LKS...
How might Niemann-Pick disease type A be treated? There is no specific treatment for this disease. Supportive care from the following specialists may be helpful for managing the symptoms: A pulmonologist for respiratory problems A cardiologist for heart problems Liver and spleen specialists Nutritionists Physical ther...
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the co...
What causes Hirschsprung disease? There are a number of different causes of Hirschsprung disease (HSCR). For example, HSCR may occur as: A part of a syndrome In association with a chromosome anomaly (such as trisomy 21 or Down syndrome) Along with other birth defects but not as a part of a known syndrome As an isolate...
What are the signs and symptoms of spastic diplegia cerebral palsy? The symptoms and severity of spastic diplegia cerebral palsy vary significantly from person to person. It is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control an...
A kidney* stone is a solid piece of material that forms in a kidney when there are high levels of certain substances in the urine. These substances are normally found in the urine and do not cause problems at lower levels. A stone may stay in the kidney or travel down the urinary tract. Kidney stones v...
As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a mo...
How is a urachal cyst diagnosed? The diagnosis of a urachal cyst may be suspected based on the presence of characteristic signs and symptoms. The following tests may then be ordered to confirm the diagnosis: Ultrasound Magnetic Resonance Imaging (MRI scan) Computed Tomography (CT scan)
This form of anemia is uncommon. However, researchers believe that it may not be as rare as they once thought. Increased awareness of the disease has led to more frequent diagnoses.
There is currently no treatment that can halt progression of any of the TSEs. Treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. A clinical trial of a potential therapy for CJD is expected to begin soon at the University of California at San Francisco.
These resources address the diagnosis or management of MFDM: - Gene Review: Gene Review: Mandibulofacial Dysostosis with Microcephaly - Genetic Testing Registry: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate These resources from MedlinePlus offer information about the dia...
Kidney disease -- also known as chronic kidney disease (CKD) -- occurs when kidneys can no longer remove wastes and extra water from the blood or perform other functions as they should. According to the Centers for Disease Control and Prevention, more than 20 million Americans may have kidney disease. Many more are at ...
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes at the National Institutes of Health conduct research related to pain and occipital neuralgia in their clinics and laboratories and support additional research through grants to major medical institutions across the country. Much o...
The exact number of people who have pulmonary hypertension (PH) isn't known. Group 1 pulmonary arterial hypertension (PAH) without a known cause is rare. It affects women more often than men. People who have group 1 PAH tend to be overweight. PH that occurs with another disease or cond...
- Controlling blood glucose and blood pressure through healthy food choices is an important step toward slowing or stopping the progression of chronic kidney disease (CKD). - The kidneys remove wastes and extra water from the blood and make urine. - Millions of Americans are at risk for developing CKD because they ha...
Focal dystonia is a movement disorder that is localized to a specific part of the body. The dystonias are a group of movement problems characterized by involuntary, sustained muscle contractions, tremors, and other uncontrolled movements. Focal task-specific dystonia, or FTSD, interferes with the performance of particu...
Is epidermolysis bullosa acquisita inherited? Unlike the genetic forms of epidermolysis bullosa, epidermolysis bullosa acquisita (EBA) is considered an acquired, sporadic disease. This means that it generally occurs in people with no history of the condition in their families. There have been a couple of reports of fam...
Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. The thickening of the ski...
How is Book syndrome inherited? To our knowledge, Book syndrome has only been reported in one, large Swedish family (25 cases in 4 generations) and in one other isolated case. In the Swedish family, the syndrome was inherited in an autosomal dominant manner. In autosomal dominant inheritance, having a mutation in only ...
Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature.
Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually...
What are the signs and symptoms of Pancreatic cancer, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Pancreatic cancer, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline...
Is thanatophoric dysplasia inherited? Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell causes the condition. However, almost all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history ...
X-linked infantile spasm syndrome is caused by mutations in either the ARX gene or the CDKL5 gene. The proteins produced from these genes play a role in the normal functioning of the brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The CDKL5 protein is thought to...
Is Castleman disease inherited? Although the exact underlying cause of Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition.
The following steps can help a person prevent adrenal crisis: - Ask a health care provider about possibly having a shortage of adrenal hormones, if always feeling tired, weak, or losing weight. - Learn how to increase the dose of corticosteroid for adrenal insufficiency when ill. Ask a health care pr...
The prevalence of aminoacylase 1 deficiency is unknown.
Four major types of kidney stones occur in children: - Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Calcium oxalate stones are more common. Calcium oxalate stone formation has various causes, which may include high calcium ...
What are the signs and symptoms of Leber congenital amaurosis 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Leber congenital amaurosis 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants wi...
What are the signs and symptoms of Klebsiella infections? The signs and symptoms of Klebsiella infections vary since Klebsiella bacteria can cause several different types of conditions. For example, community-acquired pneumonia is one common type of Klebsiella infection which can lead to lung damage and even death in s...
Cushing's syndrome is an endocrine disorder caused by prolonged exposure of the body's tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cushing's syndrome include upper body obesity, fatigue, muscle weakness,...
Mitochondrial trifunctional protein deficiency is a rare disorder; its incidence is unknown.
Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An AVM is a snarled tangle of arteries and vei...
How is Huntington disease inherited? Huntington disease (HD) is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one of the 2 copies of the HTT gene is enough to cause the condition. When a person with HD has children, each child has a 50% (1 in 2) chance to inherit the muta...