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What causes diabetic mastopathy? The cause of diabetic mastopathy is unknown. Theories include an autoimmune reaction, genetic factors such as human leukocyte antigen (HLA) type, association with insulin therapy, and association with hyperglycemia.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of Turner syndrome: - Genetic Testing Registry: Turner syndrome - MedlinePlus Encyclopedia: Ovarian Hypofunction - MedlinePlus Encyclopedia: Turner Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities. They also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and Alzheimer disease. Down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited. Treatment focuses on the specific symptoms in each person.
These resources address the diagnosis or management of androgenetic alopecia: - Genetic Testing Registry: Baldness, male pattern - MedlinePlus Encyclopedia: Female Pattern Baldness - MedlinePlus Encyclopedia: Hair Loss - MedlinePlus Encyclopedia: Male Pattern Baldness 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 factor XIII deficiency: - Genetic Testing Registry: Factor xiii, a subunit, deficiency of - Genetic Testing Registry: Factor xiii, b subunit, deficiency of 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 craniometaphyseal dysplasia: - Gene Review: Gene Review: Craniometaphyseal Dysplasia, Autosomal Dominant - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal dominant - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal recessive type - MedlinePlus Encyclopedia: Facial Paralysis 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.
Neuropathy ataxia retinitis pigmentosa (NARP) syndrome is characterized by a variety of signs and symptoms that mainly affect the nervous system. Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with balance and coordination (ataxia). Affected individuals may also have vision loss caused by a condition called retinitis pigmentosa. Other features of NARP include learning disabilities, developmental delay, seizures, dementia, hearing loss, and cardiac conduction defects. Mutations in the MT-ATP6 gene cause NARP syndrome. This gene is located within mitochondrial DNA (mtDNA). Most individuals with NARP have a specific MT-ATP6 mutation in 70 percent to 90 percent of their mitochondria. NARP syndrome is inherited from the mother (maternal inheritance) because only females pass mitochondrial DNA to their children.
Small fiber neuropathy is inherited in an autosomal dominant pattern, which means one copy of the altered SCN9A gene or SCN10A gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. When the genetic cause of small fiber neuropathy is unknown or when the condition is caused by another disorder, the inheritance pattern is unclear.
These resources address the diagnosis or management of LBSL: - Gene Review: Gene Review: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Genetic Testing Registry: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 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.
SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition have weak muscle tone (hypotonia), which contributes to the difficulty with motor skills. Some affected individuals lose skills they had already acquired (developmental regression). Other features of SYNGAP1-related intellectual disability include recurrent seizures (epilepsy), hyperactivity, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction; almost everyone with SYNGAP1-related intellectual disability develops epilepsy, and about half have an autism spectrum disorder.
Cutaneous larva migrans (CLM) is a clinical diagnosis based on the presence of the characteristic signs and symptoms, and exposure history to zoonotic hookworm. For example, the diagnosis can be made based on finding red, raised tracks in the skin that are very itchy. This is usually found on the feet or lower part of the legs on persons who have recently traveled to tropical areas and spent time at the beach. There is no blood test for zoonotic hookworm infection. Persons who think they have CLM should consult their health care provider for accurate diagnosis.
These resources address the diagnosis or management of Fryns syndrome: - Children's Hospital of Philadelphia: Treatment of Congenital Diaphragmatic Hernia - Gene Review: Gene Review: Fryns Syndrome - Genetic Testing Registry: Fryns syndrome - Seattle Children's Hospital: Treatment of Congenital Diaphragmatic Hernia 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 causes of PSC are not known. Genes, immune system problems, bacteria, and viruses may play roles in the development of the disease. PSC is linked to inflammatory bowel disease (IBD). About three out of four people with PSC have a type of IBD called ulcerative colitis. The link between PSC and IBD is not yet understood.
The signs and symptoms of coronary microvascular disease (MVD) often differ from the signs and symptoms of traditional coronary heart disease (CHD). Many women with coronary MVD have angina (an-JI-nuh or AN-juh-nuh). Angina is chest pain or discomfort that occurs when your heart muscle doesn't get enough oxygen-rich blood. Angina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. Angina also is a common symptom of CHD. However, the angina that occurs in coronary MVD may differ from the typical angina that occurs in CHD. In coronary MVD, the chest pain usually lasts longer than 10 minutes, and it can last longer than 30 minutes. Typical angina is more common in women older than 65. Other signs and symptoms of coronary MVD are shortness of breath, sleep problems, fatigue (tiredness), and lack of energy. Coronary MVD symptoms often are first noticed during routine daily activities (such as shopping, cooking, cleaning, and going to work) and times of mental stress. It's less likely that women will notice these symptoms during physical activity (such as jogging or walking fast). This differs from CHD, in which symptoms often first appear while a person is being physically activesuch as while jogging, walking on a treadmill, or going up stairs.
When gray platelet syndrome is caused by NBEAL2 gene mutations, it has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene in each cell. Gray platelet syndrome can also be inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. An affected person often inherits the condition from one affected parent. Researchers are working to determine which gene or genes are associated with the autosomal dominant form of gray platelet syndrome.
Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. Treatment requires a multidisciplinary team approach, with members dictated by the presenting symptoms.
Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Neonatal hemochromatosis is a disease in which too much iron builds up in the body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4
These resources address the diagnosis or management of acatalasemia: - Genetic Testing Registry: Acatalasemia - Genetic Testing Registry: Acatalasemia, japanese type 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
There is no cure for MMA. Treatment consists of muscle strengthening exercises and training in hand coordination
Sneezing, sore throat, a stuffy nose, coughing - everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds. You can get a cold by touching your eyes or nose after you touch surfaces with cold germs on them. You can also inhale the germs. Symptoms usually begin 2 or 3 days after infection and last 2 to 14 days. Washing your hands and staying away from people with colds will help you avoid colds. There is no cure for the common cold. For relief, try - Getting plenty of rest - Drinking fluids - Gargling with warm salt water - Using cough drops or throat sprays - Taking over-the-counter pain or cold medicines However, do not give aspirin to children. And do not give cough medicine to children under four. NIH: National Institute of Allergy and Infectious Diseases
As CKD progresses, people often lose their appetites because they find that foods do not taste the same. As a result, they consume fewer caloriesimportant units of energy in foodand may lose too much weight. Renal dietitians can help people with advanced CKD find healthy ways to add calories to their diet if they are losing too much weight. Top
Most cases of Parkinson disease occur in people with no apparent family history of the disorder. These sporadic cases may not be inherited, or they may have an inheritance pattern that is unknown. Among familial cases of Parkinson disease, the inheritance pattern differs depending on the gene that is altered. If the LRRK2 or SNCA gene is involved, the disorder is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. If the PARK2, PARK7, or PINK1 gene is involved, Parkinson disease is inherited in an autosomal recessive pattern. This type of inheritance means that two copies of the gene in each cell are altered. Most often, the parents of an individual with autosomal recessive Parkinson disease each carry one copy of the altered gene but do not show signs and symptoms of the disorder. When genetic alterations modify the risk of developing Parkinson disease, the inheritance pattern is usually unknown.
Sexual assault is any sexual activity to which you haven't freely given your consent. This includes completed or attempted sex acts that are against your will. Sometimes it can involve a victim who is unable to consent. It also includes abusive sexual contact. It can happen to men, women or children. The attacker can be anyone - a current or former partner, a family member, a person in position of power or trust, a friend, an acquaintance, or a stranger. Sexual assault can affect your health in many ways. It can lead to long-term health and emotional problems. It is important to seek help if you have been assaulted. First, get to a safe place. Then dial 9-1-1 or go to a hospital for medical care. You may want to have counseling to deal with your feelings. The most important thing to know is that the assault was not your fault. Centers for Disease Control and Prevention
What are the signs and symptoms of Myopathy congenital? The Human Phenotype Ontology provides the following list of signs and symptoms for Myopathy 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) Abnormality of the nervous system - Autosomal recessive inheritance - Myopathy - 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.
Hand-foot-genital syndrome is very rare; only a few families with the condition have been reported worldwide.
Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset is typically seen in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.
CFEOM1 is the most common form of congenital fibrosis of the extraocular muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been reported worldwide, whereas CFEOM2 has been seen in only a few families of Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very rare; it has been diagnosed in only one large Turkish family.
Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine. The signs and symptoms of benign essential blepharospasm usually appear in mid- to late adulthood and gradually worsen. The first symptoms of the condition include an increased frequency of blinking, dry eyes, and eye irritation that is aggravated by wind, air pollution, sunlight, and other irritants. These symptoms may begin in one eye, but they ultimately affect both eyes. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting. Affected individuals have increasing difficulty keeping their eyes open, which can lead to severe vision impairment. In more than half of all people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial muscles and muscles in other areas of the body. When people with benign essential blepharospasm also experience involuntary muscle spasms affecting the tongue and jaw (oromandibular dystonia), the combination of signs and symptoms is known as Meige syndrome.
Diabetic neuropathy is a peripheral nerve disorder caused by diabetes or poor blood sugar control. The most common types of diabetic neuropathy result in problems with sensation in the feet. It can develop slowly after many years of diabetes or may occur early in the disease. The symptoms are numbness, pain, or tingling in the feet or lower legs. The pain can be intense and require treatment to relieve the discomfort. The loss of sensation in the feet may also increase the possibility that foot injuries will go unnoticed and develop into ulcers or lesions that become infected. In some cases, diabetic neuropathy can be associated with difficulty walking and some weakness in the foot muscles. There are other types of diabetic-related neuropathies that affect specific parts of the body. For example, diabetic amyotrophy causes pain, weakness and wasting of the thigh muscles, or cranial nerve infarcts that may result in double vision, a drooping eyelid, or dizziness. Diabetes can also affect the autonomic nerves that control blood pressure, the digestive tract, bladder function, and sexual organs. Problems with the autonomic nerves may cause lightheadedness, indigestion, diarrhea or constipation, difficulty with bladder control, and impotence.
These resources address the diagnosis or management of thanatophoric dysplasia: - Gene Review: Gene Review: Thanatophoric Dysplasia - Genetic Testing Registry: Thanatophoric dysplasia type 1 - Genetic Testing Registry: Thanatophoric dysplasia, type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The appropriate treatment for paresthesia depends on accurate diagnosis of the underlying cause.
Cellulitis is an infection of the skin and deep underlying tissues. Group A strep (streptococcal) bacteria are the most common cause. The bacteria enter your body when you get an injury such as a bruise, burn, surgical cut, or wound. Symptoms include - Fever and chills - Swollen glands or lymph nodes - A rash with painful, red, tender skin. The skin may blister and scab over. Your health care provider may take a sample or culture from your skin or do a blood test to identify the bacteria causing infection. Treatment is with antibiotics. They may be oral in mild cases, or intravenous (through the vein) for more severe cases. NIH: National Institute of Allergy and Infectious Diseases
These resources address the diagnosis or management of Crouzon syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Crouzon syndrome - MedlinePlus Encyclopedia: Craniosynostosis 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 Chediak-Higashi syndrome: - Gene Review: Gene Review: Chediak-Higashi Syndrome - Genetic Testing Registry: Chdiak-Higashi syndrome - Immune Deficiency Foundation: Stem Cell and Gene Therapy - International Patient Organisation for Primary Immunodeficiencies (IPOPI): Treatments for Primary Immunodeficiencies: A Guide for Patients and Their Families - MedlinePlus Encyclopedia: Chediak-Higashi syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Fabry disease affects an estimated 1 in 40,000 to 60,000 males. This disorder also occurs in females, although the prevalence is unknown. Milder, late-onset forms of the disorder are probably more common than the classic, severe form.
Hepatic lipase deficiency is a disorder that affects the body's ability to break down fats (lipids). People with this disorder have increased amounts of certain fats, known as triglycerides and cholesterol, in the blood. These individuals also have increased amounts of molecules known as high-density lipoproteins (HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). These molecules transport triglycerides and cholesterol throughout the body. In people with hepatic lipase deficiency, the LDL molecules are often abnormally large. Normally, high levels of HDL (known as "good cholesterol") and low levels of LDL (known as "bad cholesterol") are protective against an accumulation of fatty deposits on the artery walls (atherosclerosis) and heart disease. However, some individuals with hepatic lipase deficiency, who have this imbalance of HDL and LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do not. It is unknown whether people with hepatic lipase deficiency have a greater risk of developing atherosclerosis or heart disease than individuals in the general population. Similarly, it is unclear how increased blood triglycerides and cholesterol levels affect the risk of atherosclerosis and heart disease in people with hepatic lipase deficiency.
Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that 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.
Gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. Gilbert syndrome typically doesn't require treatment or pose serious complications. In fact, Gilbert syndrome is usually not considered a disease because of its benign nature. Many individuals find out they have the disorder by accident, when they have a blood test that shows elevated bilirubin levels. More males than females have been diagnosed with Gilbert syndrome. This condition is caused by mutations in the UGT1A1 gene and is inherited in an autosomal recessive pattern.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What are the signs and symptoms of Familial isolated hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial isolated hyperparathyroidism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hypercalcemia - Primary hyperparathyroidism - 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.
Intravenous leiomyomatosis (IVL) is a benign smooth muscle tumor of the uterus that grows within the veins but does not invade the surrounding tissue. IVL usually starts in the veins of the uterus and can extend into the inferior vena cava and ultimately into the right side of the heart, resulting in death The abnormal smooth muscle cells that cause IVL express estrogen and progesterone receptors and tumor growth thus appears to respond to these hormones. Although this is a benign condition, many affected individuals require surgery to remove the excess tissue in the uterus and heart. The exact cause of IVL remains unknown. IVL is rare, with only about 200 cases reported in the medical literature.
Yes. Immediate treatment for early stage, open-angle glaucoma can delay progression of the disease. That's why early diagnosis is very important. Glaucoma treatments include medicines, laser surgery, conventional surgery, or a combination of any of these. While these treatments may save remaining vision, they do not improve sight already lost from glaucoma.
The following steps may help relieve the symptoms of foodborne illnesses and prevent dehydration in adults: - drinking plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes - sipping small amounts of clear liquids or sucking on ice chips if vomiting is still a problem - gradually reintroducing food, starting with bland, easy-to-digest foods such as rice, potatoes, toast or bread, cereal, lean meat, applesauce, and bananas - avoiding fatty foods, sugary foods, dairy products, caffeine, and alcohol until recovery is complete Infants and children present special concerns. Infants and children are likely to become dehydrated more quickly from diarrhea and vomiting because of their smaller body size. The following steps may help relieve symptoms and prevent dehydration in infants and children: - giving oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte to prevent dehydration - giving food as soon as the child is hungry - giving infants breast milk or fullstrength formula, as usual, along with oral rehydration solutions Older adults and adults with weak immune systems should also drink oral rehydration solutions to prevent dehydration.
What causes adenoameloblastoma? Currently the cause of adenoameloblastoma is not well understood. It may be associated with an interruption in tooth development. These legions tend to occur more commonly in young people (around 20 year-old), and most often in young women. Adenoameloblastomas in the front upper jaw are often associated with an impacted tooth.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Skin cancer is usually visible. Changes in your skin, such as lumps, scabs, red spots, rough patches, or new or irregular moles should be reported to your doctor. You should also see a doctor if you have a mole, birthmark, or other pigmented area of skin that can be classified by the ABCDE symptom system. ABCDE stands for Melanoma skin cancer is more difficult to treat, so it is important to check for signs and seek treatment as soon as possible. Use the following ABCDE rule to remember the symptoms of melanoma. See a doctor if you have a mole, birthmark, or other pigmented area of skin with A = Asymmetry. One half of the mole looks different than the other half. (top left image) B = Border. The edges are often ragged, notched, or blurred in outline. The pigment may spread into the surrounding skin. (top right image) C = Color. The mole is more than one color. Shades of black, brown, and tan may be present. Areas of white, gray, red, pink, or blue may also be seen.(bottom left image) D = Diameter.There is a change in size, usually an increase. Melanomas can be tiny, but most are larger than the size of a pea (larger than 6 millimeters or about 1/4 inch). (bottom right image) E = Evolving. The mole has changed over the past few weeks or months. Other symptoms of skin cancer include a bleeding mole or the appearance of more moles around the first one.
What are the symptoms of primary melanoma of the small intestine? Symptoms of primary melanoma of the small intestine can vary from person to person. Symptoms tend to be non-specific including nausea, vomiting, stomachache, fatigue, hemorrhage (broken blood vessels), and anemia (low red blood cell count).
Crzzlekrimp disease causes hair to temporarily defy gravity after eating spicy foods. Recovery includes a mild-food diet and specialized "gravity caps" that must be worn for 30 minutes after meals.
Some ovarian, fallopian tube, and primary peritoneal cancers are caused by inherited gene mutations (changes). The genes in cells carry the hereditary information that is received from a persons parents. Hereditary ovarian cancer makes up about 20% of all cases of ovarian cancer. There are three hereditary patterns: ovarian cancer alone, ovarian and breast cancers, and ovarian and colon cancers. Fallopian tube cancer and peritoneal cancer may also be caused by certain inherited gene mutations. There are tests that can detect gene mutations. These genetic tests are sometimes done for members of families with a high risk of cancer. See the following PDQ summaries for more information: - Ovarian, Fallopian Tube, and Primary Peritoneal Cancer Prevention - Genetics of Breast and Gynecologic Cancers (for health professionals)
How might multicentric reticulohistiocytosis be treated? Dermatologists and rheumatologists are often the types of specialists that oversee the treatment of patients with multicentric reticulohistiocytosis. Although no specific therapy has consistently been shown to improve multicentric reticulohistiocytosis, many different drugs have been used. For instance, therapy with non-steroidal anti-inflammatory agents (e.g., aspirin or ibuprofen) may help the arthritis. Systemic corticosteroids and/or cytotoxic agents, particularly cyclophosphamide, chlorambucil, or methotrexate, may affect the inflammatory response, prevent further joint destruction, and cause skin lesions to regress. Antimalarials (e.g., hydroxychloroquine and mefloquine) have also been used. Alendronate and other bisphosphonates have been reported to be effective in at least one patient and etanercept and infliximab have been effective in some.
Congenital chloride diarrhea is a condition characterized by large, watery stools containing an excess of chloride. Individuals have intrauterine (pre-birth) and lifelong diarrhea; infants with the condition are often premature. The excessive diarrhea causes electrolyte and water deficits, which in turn cause volume depletion, hyperreninemia (elevated levels of renin in the blood), hyperaldosteronism, renal potassium wasting, and sometimes nephropathy. Mutations in the SLC26A3 gene have been found to cause the condition. It is inherited in an autosomal recessive manner. Treatment generally focuses on the individual symptoms of the condition and typically includes taking oral supplements of sodium and potassium chloride.
- Crohn's disease is a disease that causes inflammation, or swelling, and irritation of any part of the digestive tractalso called the gastrointestinal (GI) tract. - People with Crohns disease may have a blood relative with the disease or another type of inflammatory bowel disease (IBD). - Symptoms of Crohns disease include abdominal pain, diarrhea, bleeding, weight loss, and fever. - A physical exam, blood tests, stool tests, and other tests are needed to diagnose Crohns disease. - Problems of Crohns disease include intestinal blockage, fistulas, abscesses, anemia, and slower growth in children. - Doctors treat Crohns disease with medicines, surgery, diet, and nutrition. - People with Crohns disease should eat a healthy diet and avoid foods that make symptoms worse. - Quitting smoking can help make Crohns disease less severe. Ask your health care provider if you need help quitting smoking. - Support groups may help lower stress for people with Crohns disease. - Most people with Crohns disease are able to work, raise families, and live full lives. - Many women with Crohns disease can become pregnant and have a baby. You should talk with your health care provider before getting pregnant.
How might Ullrich muscular dystrophy be treated? Physical therapy, including early mobilization, regular stretching and splinting, is the main focus of supportive care. Respiratory support and night-time ventilation often becomes necessary in the first or second decade of life. Prevention of chest infections may be achieved with the use of antibiotics. Feeding difficulties leading to failure to thrive may be managed by gastrostomy. Surgery may be needed for contractures and scoliosis. Some reports indicate that people with Ullrich congenital muscular dystrophy may may benefit from cyclosporin A. More studies into the benefits of this therapy are needed.
Safe and effective medication is available for treatment of both urinary and intestinal schistosomiasis. Praziquantel, a prescription medication, is taken for 1-2 days to treat infections caused by all Schistosoma species. More on: Resources for Health Professionals: Treatment
The NINDS supports a broad range of research on neuromuscular disorders with the goal of finding ways to prevent, treat, and, ultimately, cure them.
What causes X-linked hypophosphatemia? X-linked hypophosphatemia (XLH) is caused by mutations in the PHEX gene on the X chromosome. Nearly 300 PHEX mutations have been associated with XLH. Mutations in this gene lead to an increase in the bodily concentration of fibroblast growth factor 23 (FGF23), a growth hormone that regulates phosphate reabsorption in the kidneys. Too much FGF23 causes phosphate wasting in the kidneys that prevents maintenance of proper phosphate levels in the blood and is responsible for the symptoms of XLH.
How might Huntington disease be treated? Unfortunately, there is currently no cure for Huntington disease (HD). The current goal of treatment is to slow down the course of the disease and help affected people function for as long and as comfortably as possible. Current treatment strategies involve the use of various medications to treat specific symptoms such as abnormal movements and behaviors. Depression and suicide are more common among affected people, so caregivers should monitor for associated symptoms and seek help if necessary. As symptoms of the disease worsen, affected people need more assistance, supervision, and care.
GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive manner. Treatment is currently symptomatic and supportive.
Many people with Hashimotos disease have no symptoms at first. As the disease slowly progresses, the thyroid usually enlarges and may cause the front of the neck to look swollen. The enlarged thyroid, called a goiter, may create a feeling of fullness in the throat, though it is usually not painful. After many years, or even decades, damage to the thyroid causes it to shrink and the goiter to disappear. Not everyone with Hashimotos disease develops hypothyroidism. For those who do, the hypothyroidism may be subclinicalmild and without symptoms, especially early in its course. With progression to hypothyroidism, people may have one or more of the following symptoms: - fatigue - weight gain - cold intolerance - joint and muscle pain - constipation, or fewer than three bowel movements a week - dry, thinning hair - heavy or irregular menstrual periods and problems becoming pregnant - depression - memory problems - a slowed heart rate
Summary : Your blood contains red blood cells (RBC), white blood cells (WBC), and platelets. Blood count tests measure the number and types of cells in your blood. This helps doctors check on your overall health. The tests can also help to diagnose diseases and conditions such as anemia, infections, clotting problems, blood cancers, and immune system disorders. Specific types include tests for - RBC - the numbers, size, and types of RBC in the blood - WBC - the numbers and types of WBC in the blood - Platelets - the numbers and size of the platelets - Hemoglobin - an iron-rich protein in red blood cells that carries oxygen - Hematocrit - how much space red blood cells take up in your blood - Reticulocyte count - how many young red blood cells are in your blood - Mean corpuscular volume (MCV) - the average size of your red blood cells The complete blood count (CBC) includes most or all of these. The CBC is one of the most common blood tests. NIH: National Heart, Lung, and Blood Institute
Summary : You may need to take medicines every day, or only once in a while. Either way, you want to make sure that the medicines are safe and will help you get better. In the United States, the Food and Drug Administration is in charge of assuring the safety and effectiveness of both prescription and over-the-counter medicines. Even safe drugs can cause unwanted side effects or interactions with food or other medicines you may be taking. They may not be safe during pregnancy. To reduce the risk of reactions and make sure that you get better, it is important for you to take your medicines correctly and be careful when giving medicines to children.
Treatment depends on the underlying cause of the hypoxia, but basic life-support systems have to be put in place: mechanical ventilation to secure the airway; fluids, blood products, or medications to support blood pressure and heart rate; and medications to suppress seizures.
How is GM1 gangliosidosis inherited? GM1 gangliosidosis is a hereditary condition that is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier GM1 gangliosidosis is type-specific within families. This means that people with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family.
People can prevent urinary retention before it occurs by treating some of the potential causes. For example, men with benign prostatic hyperplasia should take prostate medications as prescribed by their health care provider. Men with benign prostatic hyperplasia should avoid medications associated with urinary retention, such as over-the-counter cold and allergy medications that contain decongestants. Women with mild cystocele or rectocele may prevent urinary retention by doing exercises to strengthen the pelvic muscles. In most cases, dietary and lifestyle changes will help prevent urinary retention caused by constipation. People whose constipation continues should see a health care provider. More information about exercises to strengthen the pelvic muscles is provided in the NIDDK health topic, Kegel Exercise Tips.
Leber congenital amaurosis usually has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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. When Leber congenital amaurosis is caused by mutations in the CRX or IMPDH1 genes, the disorder has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations and occur in people with no history of the disorder in their family.
Drug therapy, particularly carbamazepine, has been very successful in reducing or eliminating attacks of paroxysmal choreoathetosis. While carbamazepine is not effective in every case, other drugs have been substituted with good effect.
Biliary atresia is a life-threatening condition in infants in which the bile ducts inside or outside the liver do not have normal openings. Bile ducts in the liver, also called hepatic ducts, are tubes that carry bile from the liver to the gallbladder for storage and to the small intestine for use in digestion. Bile is a fluid made by the liver that serves two main functions: carrying toxins and waste products out of the body and helping the body digest fats and absorb the fat-soluble vitamins A, D, E, and K. With biliary atresia, bile becomes trapped, builds up, and damages the liver. The damage leads to scarring, loss of liver tissue, and cirrhosis. Cirrhosis is a chronic, or long lasting, liver condition caused by scar tissue and cell damage that makes it hard for the liver to remove toxins from the blood. These toxins build up in the blood and the liver slowly deteriorates and malfunctions. Without treatment, the liver eventually fails and the infant needs a liver transplant to stay alive. The two types of biliary atresia are fetal and perinatal. Fetal biliary atresia appears while the baby is in the womb. Perinatal biliary atresia is much more common and does not become evident until 2 to 4 weeks after birth. Some infants, particularly those with the fetal form, also have birth defects in the heart, spleen, or intestines.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The patient's age and general health. - The level of certain substances in the blood and cerebrospinal fluid (CSF). - Where the tumor is in the central nervous system, eye, or both. - Whether the patient has AIDS. Treatment options depend on the following: - The stage of the cancer. - Where the tumor is in the central nervous system. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back). Treatment of primary CNS lymphoma works best when the tumor has not spread outside the cerebrum (the largest part of the brain) and the patient is younger than 60 years, able to carry out most daily activities, and does not have AIDS or other diseases that weaken the immune system.
Summary : HIV, the human immunodeficiency virus, kills or damages cells of the body's immune system. The most advanced stage of infection with HIV is AIDS, which stands for acquired immunodeficiency syndrome. HIV often spreads through unprotected sex with an infected person. It may also spread by sharing drug needles or through contact with the blood of an infected person. Women can get HIV more easily during vaginal sex than men can. And if they do get HIV, they have unique problems, including: - Complications such as repeated vaginal yeast infections, severe pelvic inflammatory disease (PID), and a higher risk of cervical cancer - Different side effects from the drugs that treat HIV - The risk of giving HIV to their baby while pregnant or during childbirth There is no cure, but there are many medicines to fight both HIV infection and the infections and cancers that come with it. People can live with the disease for many years.
More than 900 people with Alstrm syndrome have been reported worldwide.
Bacteria are living things that have only one cell. Under a microscope, they look like balls, rods, or spirals. They are so small that a line of 1,000 could fit across a pencil eraser. Most bacteria won't hurt you - less than 1 percent of the different types make people sick. Many are helpful. Some bacteria help to digest food, destroy disease-causing cells, and give the body needed vitamins. Bacteria are also used in making healthy foods like yogurt and cheese. But infectious bacteria can make you ill. They reproduce quickly in your body. Many give off chemicals called toxins, which can damage tissue and make you sick. Examples of bacteria that cause infections include Streptococcus, Staphylococcus, and E. coli. Antibiotics are the usual treatment. When you take antibiotics, follow the directions carefully. Each time you take antibiotics, you increase the chances that bacteria in your body will learn to resist them causing antibiotic resistance. Later, you could get or spread an infection that those antibiotics cannot cure. NIH: National Institute of Allergy and Infectious Diseases
What are the signs and symptoms of mycobacterium malmoense infection? Many cases of M. malmoense infection cause no symptoms, and as a result go unrecognized. M. malmoense infections in adults often present as lung infections with or without fever. In children, M. malmoense infections can present as a single sided, non-tender, enlarging, neck mass. The mass may be violet in color and often does not respond to conventional antibiotic therapy. M. malmoense infection can also cause skin lesions or abscesses.
You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of the problem? - Did I have a cold or the flu? - Did I have a head injury? - Was I exposed to air pollutants, pollen, pet dander, or dust to which I might be allergic? - Is this a recurring problem? - Does it come at any special time, such as during the hay fever season? When did I first become aware of the problem? Did I have a cold or the flu? Did I have a head injury? Was I exposed to air pollutants, pollen, pet dander, or dust to which I might be allergic? Is this a recurring problem? Does it come at any special time, such as during the hay fever season?
What are the signs and symptoms of sclerosing mesenteritis? Common symptoms of sclerosing mesenteritis include abdominal pain or a palpable abdominal mass, weight loss, abdominal distention, vomiting, diarrhea, constipation, and fever of unknown cause.
This condition is inherited in an autosomal dominant pattern, which means one copy of the recombinant chromosome 8 in each cell is sufficient to cause the disorder. Most people with recombinant 8 syndrome have at least one parent with a change in chromosome 8 called an inversion. An inversion involves the breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. Genetic material is typically not lost as a result of this inversion in chromosome 8, so people usually do not have any related health problems. However, genetic material can be lost or duplicated when inversions are being passed to the next generation. People with this chromosome 8 inversion are at of risk having a child with recombinant 8 syndrome.
How is mucopolysaccharidosis I (MPS I) inherited? MPS I is inherited from both parents in an autosomal recessive pattern.
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.
This condition is very rare; its prevalence is unknown.
Gastroparesis, also called delayed gastric emptying, is a disorder that slows or stops the movement of food from the stomach to the small intestine. Normally, the muscles of the stomach, which are controlled by the vagus nerve, contract to break up food and move it through the gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Gastroparesis can occur when the vagus nerve is damaged by illness or injury and the stomach muscles stop working normally. Food then moves slowly from the stomach to the small intestine or stops moving altogether.
Summary : Radiation therapy is a cancer treatment. It uses high doses of radiation to kill cancer cells and stop them from spreading. About half of all cancer patients receive it. The radiation may be external, from special machines, or internal, from radioactive substances that a doctor places inside your body. The type of radiation therapy you receive depends on many factors, including - The type of cancer - The size of the cancer - The cancer's location in the body - How close the cancer is to normal tissues that are sensitive to radiation - How far into the body the radiation needs to travel - Your general health and medical history - Whether you will have other types of cancer treatment - Other factors, such as your age and other medical conditions Radiation therapy can damage normal cells as well as cancer cells. Treatment must be carefully planned to minimize side effects. Common side effects include skin changes and fatigue. Other side effects depend on the part of your body being treated. Sometimes radiation is used with other treatments, like surgery or chemotherapy. NIH: National Cancer Institute
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Rarely, new mutations in the gene occur in people with no history of the disorder in their family.
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.
Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body. People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage. Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.
Mutations in the WT1 gene cause Denys-Drash syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the development of the kidneys and kidneys and gonads (ovaries in females and testes in males) before birth. WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis and gonadal dysgenesis, which are characteristic of Denys-Drash syndrome. Abnormal gene activity caused by the loss of normal WT1 protein increases the risk of developing Wilms tumor in affected individuals. Denys-Drash syndrome has features similar to another condition called Frasier syndrome, which is also caused by mutations in the WT1 gene. Because these two conditions share a genetic cause and have overlapping features, some researchers have suggested that they are part of a spectrum and not two distinct 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.
Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes. Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech. Some children may have seizures. Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears. INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child. Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons.
Here are several things you can do to lower your risk for cataract. Have regular eye exams. Eye exams can help detect cataracts and other age-related eye problems at their earliest stages. If you are age 60 or older, you should have a comprehensive dilated eye exam at least once a year. In addition to cataract, your eye care professional can check for signs of age-related macular degeneration, glaucoma, and other vision disorders. For many eye diseases, early treatment may save your sight. Quit smoking. Ask your doctor for help to stop smoking. Medications, counseling and other strategies are available to help you. Wear sunglasses. Wear sunglasses that block ultraviolet B (UVB) rays when you're outdoors. Take care of other health problems. Follow your treatment plan if you have diabetes or other medical conditions that can increase your risk of cataracts. Maintain a healthy weight. If your current weight is a healthy one, work to maintain it by exercising most days of the week. If you're overweight or obese, work to lose weight slowly by reducing your calorie intake and increasing the amount of exercise you get each day. Choose a healthy diet. A diet that includes plenty of colorful fruits and vegetables ensures that you're getting a lot of vitamins and nutrients, which in theory could prevent damage to your eye's lens.
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid is too active, it makes more thyroid hormones than your body needs. This is called hyperthyroidism. Hyperthyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Grave's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and taking too much synthetic thyroid hormone. The symptoms can vary from person to person. They may include - Being nervous or irritable - Mood swings - Fatigue or muscle weakness - Heat intolerance - Trouble sleeping - Hand tremors - Rapid and irregular heartbeat - Frequent bowel movements or diarrhea - Weight loss - Goiter, which is an enlarged thyroid that may cause the neck to look swollen To diagnose hyperthyroidism, your doctor will look at your symptoms, blood tests, and sometimes a thyroid scan. Treatment is with medicines, radioiodine therapy, or thyroid surgery. No single treatment works for everyone. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Summary : Kids, this page is for you. Learn about everything from how the body works to what happens when you go to the hospital. There are quizzes, games and lots of cool web sites for you to explore. Have fun!
Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy that enlarges and weakens the heart muscle. Some affected individuals develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms of the disorder around puberty. Poor balance when walking and slurred speech are often the first noticeable features. Affected individuals typically require the use of a wheelchair about 10 years after signs and symptoms appear. About 25 percent of people with Friedreich ataxia have an atypical form that begins after age 25. Affected individuals who develop Friedreich ataxia between ages 26 and 39 are considered to have late-onset Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA usually progress more slowly than typical Friedreich ataxia.
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.
Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a "localized" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a "systemic" disease that affects multiple sets of lymph nodes and other tissues throughout the body. The exact underlying cause of CD is currently unknown; however, it is thought to occur sporadically in people with no family history of the condition. Treatment varies based on the form of the condition, the severity of symptoms and whether or not the affected person also has an HIV and/or human herpes virus type 8 (HHV-8) infection. For more specific information about each form of CD, please visit GARD's unicentric Castleman disease and multicentric Castleman disease pages.
Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified. The proteins produced from the PITX2 and FOXC1 genes are transcription factors, which means they attach (bind) to DNA and help control the activity of other genes. These transcription factors are active before birth in the developing eye and in other parts of the body. They appear to play important roles in embryonic development, particularly in the formation of structures in the anterior segment of the eye. Mutations in either the PITX2 or FOXC1 gene disrupt the activity of other genes that are needed for normal development. Impaired regulation of these genes leads to problems in the formation of the anterior segment of the eye and other parts of the body. These developmental abnormalities underlie the characteristic features of Axenfeld-Rieger syndrome. Affected individuals with PITX2 gene mutations are more likely than those with FOXC1 gene mutations to have abnormalities affecting parts of the body other than the eye. Some people with Axenfeld-Rieger syndrome do not have identified mutations in the PITX2 or FOXC1 genes. In these individuals, the cause of the condition is unknown. Other as-yet-unidentified genes may also cause Axenfeld-Rieger syndrome.
Urinary incontinence occurs in 11 to 34 percent of older men. Two to 11 percent of older men report daily UI.1 Although more women than men develop UI, the chances of a man developing UI increase with age because he is more likely to develop prostate problems as he ages. Men are also less likely to speak with a health care professional about UI, so UI in men is probably far more common than statistics show. Having a discussion with a health care professional about UI is the first step to fixing this treatable problem.
These resources address the diagnosis or management of Gilbert syndrome: - Genetic Testing Registry: Gilbert's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome.