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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 each cell. In genetic males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In genetic females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. About two-thirds of all cases of androgen insensitivity syndrome are inherited from mothers who carry an altered copy of the AR gene on one of their two X chromosomes. The remaining cases result from a new mutation that can occur in the mother's egg cell before the child is conceived or during early fetal development.
The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature.
Loeys-Dietz syndrome is considered to have an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 75 percent of cases, this disorder results from a new gene mutation and occurs in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent.
Progressive external ophthalmoplegia can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in the MT-TL1 gene, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. When the nuclear genes POLG, SLC25A4, or C10orf2 are involved, progressive external ophthalmoplegia is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Certain mutations in the POLG gene can also cause a form of the condition that 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. Some mutations in the POLG gene that cause progressive external ophthalmoplegia occur during a person's lifetime and are not inherited. These genetic changes are called somatic mutations.
Collagen VI-related myopathy can be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Bethlem myopathy is typically inherited in an autosomal dominant manner, as are some cases of the intermediate form and a few rare instances of Ullrich congenital muscular dystrophy. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. In other cases, an affected person inherits the mutation from one affected parent. Collagen VI-related myopathy can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Ullrich congenital muscular dystrophy is typically inherited in an autosomal recessive manner, as are some cases of the intermediate form and a few rare instances of Bethlem myopathy. 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 Alopecia areata? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia areata. 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) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
This condition is inherited in an autosomal 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.
Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (a cleft palate). This condition is described as a "sequence" because one of its features, an underdeveloped lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. Specifically, having an abnormally small jaw affects placement of the tongue and formation of the palate, leading to glossoptosis and cleft palate. The combination of features characteristic of Pierre Robin sequence can lead to difficulty breathing and problems eating early in life. As a result, some affected babies have an inability to grow and gain weight at the expected rate (failure to thrive). In some children with Pierre Robin sequence, growth of the mandible catches up, and these individuals have normal-sized chins. Some people have Pierre Robin sequence as part of a syndrome that affects other organs and tissues in the body, such as campomelic dysplasia or Stickler syndrome. These instances are described as syndromic. When Pierre Robin sequence occurs by itself, it is described as nonsyndromic or isolated. Approximately 20 to 40 percent of cases of Pierre Robin sequence are isolated.
Mutations in the KCNJ2 gene cause Andersen-Tawil syndrome. The KCNJ2 gene provides instructions for making a protein that forms a channel across cell membranes. This channel transports positively charged atoms (ions) of potassium into muscle cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of muscles used for movement (skeletal muscles) and cardiac muscle. Mutations in the KCNJ2 gene alter the usual structure and function of potassium channels or prevent the channels from being inserted correctly into the cell membrane. Many mutations prevent a molecule called PIP2 from binding to the channels and effectively regulating their activity. These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen-Tawil syndrome. Researchers have not determined the role of the KCNJ2 gene in bone development, and it is not known how mutations in the gene lead to the developmental abnormalities often found in Andersen-Tawil syndrome.
Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner.
Infants with type A die in infancy. Children with Type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. The life expectancy of persons with type C varies: some individuals die in childhood while others who appear to be less severely affected can live into adulthood.
- Zollinger-Ellison syndrome is a rare disorder that occurs when one or more tumors form in the pancreas and duodenum. - Experts do not know the exact cause of Zollinger-Ellison syndrome. - About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1). - Although anyone can get Zollinger-Ellison syndrome, the disease is more common among men 30 to 50 years old. - Zollinger-Ellison syndrome signs and symptoms are similar to those of peptic ulcers. - Some people with Zollinger-Ellison syndrome have only diarrhea, with no other symptoms. Others develop gastroesophageal reflux (GER). - A health care provider diagnoses Zollinger-Ellison syndrome based on the following: - medical history - physical exam - signs and symptoms - blood tests - upper gastrointestinal (GI) endoscopy - imaging tests to look for gastrinomas - measurement of stomach acid - A health care provider treats Zollinger-Ellison syndrome with medications to reduce gastric acid secretion and with surgery to remove gastrinomas. A health care provider sometimes uses chemotherapymedications to shrink tumorswhen tumors are too widespread to remove with surgery.
Hormonal therapy keeps cancer cells from getting the hormones they need to grow. This treatment may include the use of drugs that change the way hormones work. Sometimes it includes surgery to remove the ovaries, which make female hormones. Like chemotherapy, hormonal therapy can affect cancer cells throughout the body. Often, women with early-stage breast cancer and those with metastatic breast cancer -- meaning cancer that has spread to other parts of the body -- receive hormone therapy in the form of tamoxifen. Hormone therapy with tamoxifen or estrogens can act on cells all over the body. However, it may increase the chance of developing endometrial cancer. If you take tamoxifen, you should have a pelvic examination every year to look for any signs of cancer. A woman should report any vaginal bleeding, other than menstrual bleeding, to her doctor as soon as possible.
AIDS is primarily an immune system disorder caused by the human immunodeficiency virus (HIV), but it can also affect the nervous system. HIV does not appear to directly invade nerve cells but it jeopardizes their health and function, causing symptoms such as confusion, forgetfulness, behavioral changes, headaches, progressive weakness and loss of sensation in the arms and legs, cognitive motor impairment, or damage to the peripheral nerves. Other complications that can occur as a result of HIV infection or the drugs used to treat it include pain, seizures, shingles, spinal cord problems, lack of coordination, difficult or painful swallowing, anxiety disorder, depression, fever, vision loss, gait disorders, destruction of brain tissue, and coma. Other AIDS-related nervous system disorders may be caused by certain cancers or by illnesses that would not otherwise affect people with healthy immune systems. Among the most common neurological complications are: AIDS dementia complex, causing symptoms such as encephalitis (inflammation of the brain), behavioral changes, and a gradual decline in cognitive function; central nervous system lymphomas, cancerous tumors that either begin in the brain or result from a cancer that has spread from another site in the body; cryptococcal meningitis; cytomegalovirus infections; herpes virus infections; neuropathy; neurosyphilis; progressive multifocal leukoencephalopathy (PML); and psychological and neuropsychiatric disorders.
Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 people. It is more common in people of East Asian descent, especially those of Chinese and Japanese background. Researchers suggest that Bietti crystalline dystrophy may be underdiagnosed because its symptoms are similar to those of other eye disorders that progressively damage the retina.
The NINDS supports research on conditions that can result from neurological disorders, such as hypotonia. Much of this research is aimed at learning more about these conditions and finding ways to prevent and treat them.
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated. The signs and symptoms of CMAMMA can begin in childhood. In some children, the buildup of acids causes the blood to become too acidic (ketoacidosis), which can damage the body's tissues and organs. Other signs and symptoms may include involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected children have an unusually small head size (microcephaly). Other people with CMAMMA do not develop signs and symptoms until adulthood. These individuals usually have neurological problems, such as seizures, loss of memory, a decline in thinking ability, or psychiatric diseases.
Health history affects the risk of developing colon cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk to your doctor if you think you may be at risk for colorectal cancer. Risk factors for colorectal cancer include the following: - Having a family history of colon or rectal cancer in a first-degree relative (parent, sibling, or child). - Having a personal history of cancer of the colon, rectum, or ovary. - Having a personal history of high-risk adenomas (colorectal polyps that are 1 centimeter or larger in size or that have cells that look abnormal under a microscope). - Having inherited changes in certain genes that increase the risk of familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary nonpolyposis colorectal cancer). - Having a personal history of chronic ulcerative colitis or Crohn disease for 8 years or more. - Having three or more alcoholic drinks per day. - Smoking cigarettes. - Being black. - Being obese. Older age is a main risk factor for most cancers. The chance of getting cancer increases as you get older.
What are the signs and symptoms of Duodenal atresia? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal atresia. 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) Duodenal stenosis 90% Polyhydramnios 90% Abnormality of the pancreas 7.5% Abnormality of the pulmonary artery 7.5% Autosomal recessive inheritance - Duodenal atresia - 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.
Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults. The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome. A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.
A person who has had lung cancer once is more likely to develop a second lung cancer compared to a person who has never had lung cancer. Second cancers arise in a different site than the original cancer. If the original cancer returns after treatment, it is considered recurrent, not a second cancer. Quitting smoking after lung cancer is diagnosed may prevent the development of a second lung cancer.
How is lichen planus pigmentosus diagnosed? A diagnosis of lichen planus pigmentosus is usually suspected based on the presence of characteristic signs and symptoms. A skin biopsy may then be ordered to confirm the diagnosis.
Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate.[9184] The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.
These resources address the diagnosis or management of autosomal recessive hyper-IgE syndrome: - Genetic Testing Registry: Hyperimmunoglobulin E syndrome - MedlinePlus Encyclopedia: Hyperimmunoglobulin E Syndrome - Merck Manual Professional Version: Hyperimmunoglobulin E Syndrome - PID UK: Hyperimmunoglobulin E Syndromes Treatment and Immunizations 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
A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain. Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors. Some examples of genetic brain disorders include - Leukodystrophies - Phenylketonuria - Tay-Sachs disease - Wilson disease Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.
The signs and symptoms of anemia in someone with CKD may include - weakness - fatigue, or feeling tired - headaches - problems with concentration - paleness - dizziness - difficulty breathing or shortness of breath - chest pain Anyone having difficulty breathing or with shortness of breath should seek immediate medical care. Anyone who has chest pain should call 911.
Mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis. The CYP27A1 gene provides instructions for producing an enzyme called sterol 27-hydroxylase. This enzyme works in the pathway that breaks down cholesterol to form acids used in the digestion of fats (bile acids). Mutations in sterol 27-hydroxylase impair its ability to break down cholesterol to a specific bile acid called chenodeoxycholic acid. As a result, a molecule called cholestanol, which is similar to cholesterol, accumulates in xanthomas, blood, nerve cells, and the brain. Cholesterol levels are not increased in the blood, but they are elevated in various tissues throughout the body. The accumulation of cholesterol and cholestanol in the brain, tendons, and other tissues causes the signs and symptoms of cerebrotendinous xanthomatosis.
These resources address the diagnosis or management of Muckle-Wells syndrome: - Genetic Testing Registry: Familial amyloid nephropathy with urticaria AND deafness 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
People can manage their diabetes with meal planning, physical activity, and if needed, medications. More information about taking care of type 1 or type 2 diabetes is provided in the NIDDK health topics: - What I need to know about Diabetes Medicines - What I need to know about Eating and Diabetes - Your Guide to Diabetes: Type 1 and Type 2 These NDIC publications are available at http://www.niddk.nih.gov/health-information/health-topics/Diabetes/Pages/default.aspx or by calling 18008608747.
The NINDS supports research on disorders that result from damage to the brain such as dysgraphia. The NINDS and other components of the National Institutes of Health also support research on learning disabilities. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of the biological basis of them.
The prevalence of CPVT is estimated to be about 1 in 10,000 people. However, the true prevalence of this condition is unknown.
What are the signs and symptoms of Froelich syndrome? Signs and symptoms of Froelich syndrome include obesity, small testes, delay in the onset of puberty, short stature (compared to other family members of the same sex), malformed or undersized fingernails, and headaches. Some children with Froehlich syndrome may have mental retardation, difficulties with vision, and in rare cases diabetes. Other symptoms of the syndrome may include excessive thirst, excessive urination, and very delicate skin.
What causes autoimmune hepatitis? Although the exact cause of autoimmune hepatitis is unknown, evidence suggests that liver injury in a patient with autoimmune hepatitis is the result of a cell-mediated immunologic attack. This autoimmune attack may be triggered by genetic factors, viral infections, or chemical agents. Autoimmune hepatitis sometimes occurs in relatives of people with autoimmune diseases, further suggesting a genetic cause.
Ear infections are the most common reason parents bring their child to a doctor. Three out of four children will have at least one ear infection by their third birthday. Adults can also get ear infections, but they are less common. The infection usually affects the middle ear and is called otitis media. The tubes inside the ears become clogged with fluid and mucus. This can affect hearing, because sound cannot get through all that fluid. If your child isn't old enough to say "My ear hurts," here are a few things to look for - Tugging at ears - Crying more than usual - Fluid draining from the ear - Trouble sleeping - Balance difficulties - Hearing problems Your health care provider will diagnose an ear infection by looking inside the ear with an instrument called an otoscope. Often, ear infections go away on their own. Your health care provider may recommend pain relievers. Severe infections and infections in young babies may require antibiotics. Children who get infections often may need surgery to place small tubes inside their ears. The tubes relieve pressure in the ears so that the child can hear again. NIH: National Institute on Deafness and Other Communication Disorders
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare disorder. It has been diagnosed in only a few individuals, almost all of whom are members of a large extended family from a community in southern Italy.
Heel problems are common and can be painful. Often, they result from too much stress on your heel bone and the tissues that surround it. That stress can come from - Injuries - Bruises that you get walking, running or jumping - Wearing shoes that don't fit or aren't made well - Being overweight These can lead to tendinitis, bursitis, and fasciitis, which are all types of inflammation of the tissues that surround your heel. Over time the stress can cause bone spurs and deformities. Certain diseases, such as rheumatoid arthritis and gout, can also lead to heel problems. Treatments for heel problems might include rest, medicines, exercises, taping, and special shoes. Surgery is rarely needed.
When you are pregnant, you are not just "eating for two." You also breathe and drink for two, so it is important to carefully consider what you give to your baby. If you smoke, use alcohol or take illegal drugs, so does your unborn baby. First, don't smoke. Smoking during pregnancy passes nicotine and cancer-causing drugs to your baby. Smoke also keeps your baby from getting nourishment and raises the risk of stillbirth or premature birth. Don't drink alcohol. There is no known safe amount of alcohol a woman can drink while pregnant. Alcohol can cause life-long physical and behavioral problems in children, including fetal alcohol syndrome. Don't use illegal drugs. Using illegal drugs may cause underweight babies, birth defects or withdrawal symptoms after birth. If you are pregnant and you smoke, drink alcohol or do drugs, get help. Your health care provider can recommend programs to help you quit. You and your baby will be better off. Dept. of Health and Human Services Office on Women's Health
Summary : Your skin changes as you age. You might notice wrinkles, age spots and dryness. Your skin also becomes thinner and loses fat, making it less plump and smooth. It might take longer to heal, too. Sunlight is a major cause of skin aging. You can protect yourself by staying out of the sun when it is strongest, using sunscreen with an SPF of 15 or higher, wearing protective clothing, and avoiding sunlamps and tanning beds. Cigarette smoking also contributes to wrinkles. The wrinkling increases with the amount of cigarettes and number of years a person has smoked. Many products claim to revitalize aging skin or reduce wrinkles, but the Food and Drug Administration has approved only a few for sun-damaged or aging skin. Various treatments soothe dry skin and reduce the appearance of age spots. NIH: National Institute on Aging
Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion.
Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people worldwide. Only a small fraction of these cases appear to run in families. Wolff-Parkinson-White syndrome is a common cause of an arrhythmia known as paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is the most frequent cause of this abnormal heart rhythm in the Chinese population, where it is responsible for more than 70 percent of cases.
Summary : Some people have naturally straight teeth that fit together. But if you have problems with your bite or the spacing of your teeth, you may need orthodontic care. Orthodontia is the branch of dentistry that deals with abnormalities of the teeth and jaw. Orthodontic care involves the use of devices, such as braces, to - Straighten teeth - Correct problems with bite - Close gaps between teeth - Align lips and teeth properly Most people who receive orthodontic care are kids, but adults get braces, too. In young children, orthodontic treatment may guide proper jaw growth. This can help permanent teeth to come in properly. Straight permanent teeth can help prevent tooth problems later on.
These resources address the diagnosis or management of factor X deficiency: - Genetic Testing Registry: Factor X deficiency - MedlinePlus Encyclopedia: Factor X Assay 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
Fumarase deficiency is a very rare disorder. Approximately 100 affected individuals have been reported worldwide. Several were born in an isolated religious community in the southwestern United States.
- Bladder problems have many possible causes. - Your doctor will need to do tests to find the cause of your bladder problems. If all the test results are normal, you may have IC/PBS. - No one treatment option for IC/PBS works for everybody. - Treatments for IC/PBS may include changing your diet and exercising. - Medicines for IC/PBS may be taken by mouth or put directly into the bladder through a tube by a doctor. - Nerve stimulation helps some people with IC/PBS. - Surgery is a last resort for treating IC/PBS.
How is dihydrolipoamide dehydrogenase deficiency inherited? Dihydrolipoamide dehydrogenase (DLD) deficiency is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene in each cell to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% to be unaffected and not be a carrier.
Jones syndrome is a very rare condition characterized by gingival fibromatosis (enlargement and overgrowth of the gums) and progressive, sensorineural hearing loss. The onset of gingival fibromatosis usually occurs with the eruption of the permanent teeth. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, and increased spacing. Jones syndrome is inherited in an autosomal dominant manner, but the underlying genetic cause is not yet known. Only a few families with Jones syndrome have been reported.
Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. The kidney problems can affect one or both kidneys. Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision. Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.
What are the signs and symptoms of Dwarfism tall vertebrae? The Human Phenotype Ontology provides the following list of signs and symptoms for Dwarfism tall vertebrae. 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 - Coxa vara - Increased vertebral height - Severe short stature - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Tenesmusan uncomfortable and frequent urge to have a bowel movementis one of the most common symptoms of proctitis. Other symptoms may include - bloody bowel movements - rectal bleeding - a feeling of rectal fullness - anal or rectal pain - crampy abdominal pain - rectal discharge of mucus or pus - diarrhea or frequent passage of loose or liquid stools
Toxocariasis is a parasitic condition caused by the larvae of two species of Toxocara roundworms: Toxocara canis (from dogs) and Toxocara cati (from cats). Many people who are infected with Toxocara never develop any signs or symptoms of the condition. In those who do become sick, symptoms may present as: Ocular Toxocariasis - when the larvae infect the eye and cause vision loss, eye inflammation, and/or damage to the retina. Visceral Toxocariasis - when the larvae infect various organs of the body (i.e. the liver or the central nervous system) and cause fever, fatigue, coughing, wheezing, and/or abdominal pain. Toxocariasis is generally spread through dirt that has been contaminated with animal feces that contain infectious Toxocara eggs. Young children and owners of dogs and cats have a higher chance of becoming infected. Visceral toxocariasis is treated with antiparasitic medications. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye.
How might lung cysts associated with Birt-Hogg-Dube syndrome be treated? At the time of diagnosis of Birt-Hogg-Dube (BHD) syndrome, a computed tomography (CT) scan, or high resolution CT scan if available, should be done to determine the number, location, and size of any cysts in the lungs. There is no recommended management of the lung cysts. Lung cysts related to BHD have not been associated with long-term disability or fatality. The main concern is that the cysts may increase the chance of developing a collapsed lung (pneumothorax). If an individual with BHD experiences any symptoms of a collapsed lung - such as chest pain, discomfort, or shortness of breath - they should immediately go to a physician for a chest x-ray or CT scan. Therapy of a collapsed lung depends on the symptoms, how long it has been present, and the extent of any underlying lung conditions. It is thought that collapsed lung can be prevented by avoiding scuba diving, piloting airplanes, and cigarette smoking. Individuals with BHD who have a history of multiple instances of collapsed lung or signs of lung disease are encouraged to see a lung specialist (pulmonologist).
These resources address the diagnosis or management of MIDD: - Genetic Testing Registry: Diabetes-deafness syndrome maternally transmitted 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
Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2, PDGFRB, and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner.
There is no treatment that can stop or reverse the course of HD. Tetrabenazine is prescribed for treating Huntingtons-associated chorea. It is the only drug approved by the U.S. Food and Drug Administration specifically for use against HD. Antipsychotic drugs may help to alleviate chorea and may also be used to help control hallucinations, delusions, and violent outbursts. Drugs may be prescribed to treat depression and anxiety. Drugs used to treat the symptoms of HD may have side effects such as fatigue, sedation, decreased concentration, restlessness, or hyperexcitability, and should be only used when symptoms create problems for the individual.
Signs and symptoms of extragonadal germ cell tumors include breathing problems and chest pain. Malignant extragonadal germ cell tumors may cause signs and symptoms as they grow into nearby areas. Other conditions may cause the same signs and symptoms. Check with your doctor if you have any of the following: - Chest pain. - Breathing problems. - Cough. - Fever. - Headache. - Change in bowel habits. - Feeling very tired. - Trouble walking. - Trouble in seeing or moving the eyes.
The most common symptom of anemia is fatigue (feeling tired or weak). If you have anemia, you may find it hard to find the energy to do normal activities. Other signs and symptoms of anemia include: Shortness of breath Dizziness Headache Coldness in the hands and feet Pale skin Chest pain These signs and symptoms can occur because your heart has to work harder to pump oxygen-rich blood through your body. Mild to moderate anemia may cause very mild symptoms or none at all. Complications of Anemia Some people who have anemia may have arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat. Over time, arrhythmias can damage your heart and possibly lead to heart failure. Anemia also can damage other organs in your body because your blood can't get enough oxygen to them. Anemia can weaken people who have cancer or HIV/AIDS. This can make their treatments not work as well. Anemia also can cause many other health problems. People who have kidney disease and anemia are more likely to have heart problems. With some types of anemia, too little fluid intake or too much loss of fluid in the blood and body can occur. Severe loss of fluid can be life threatening.
Bowel incontinence is the inability to control your bowels. When you feel the urge to have a bowel movement, you may not be able to hold it until you get to a toilet. Millions of Americans have this problem. It affects people of all ages - children and adults. It is more common in women and older adults. It is not a normal part of aging. Causes include - Constipation - Damage to muscles or nerves of the anus and rectum - Diarrhea - Pelvic support problems Treatments include changes in diet, medicines, bowel training, or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
What causes Ehlers-Danlos syndrome, kyphoscoliosis type? Ehlers-Danlos syndrome (EDS), kyphoscoliosis type is caused by changes (mutations) in the PLOD1 gene. This gene encodes an enzyme that helps process molecules which allow collagen to form stable interactions with one another. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Mutations in the PLOD1 gene lead to reduced levels of functional enzyme which disrupt networks of collagen throughout the body. This weakens the connective tissues and leads to the characteristic signs and symptoms associated with EDS, kyphoscoliosis type.
Encourage them to have a comprehensive dilated eye exam at least once every two years. Remember -- lowering eye pressure in glaucoma's early stages slows progression of the disease and helps save vision. Get tips on finding an eye care professional.
The prevalence of all hereditary spastic paraplegias combined is estimated to be 1 to 18 in 100,000 people worldwide. Spastic paraplegia type 8 likely accounts for only a small percentage of all spastic paraplegia cases.
Patent ductus arteriosus (PDA) is a relatively common congenital heart defect in the United States. The condition occurs more often in premature infants (on average, occurring in about 8 of every 1,000 births). However, PDA also occurs in full-term infants (on average, occurring in about 2 of every 1,000 births). PDA also is more common in: Infants who have genetic conditions such as Down syndrome Infants whose mothers had German measles (rubella) during pregnancy PDA is twice as common in girls as it is in boys.
It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They can often be helped. Deafness can keep you from hearing sound at all. What causes hearing loss? Some possibilities are - Heredity - Diseases such as ear infections and meningitis - Trauma - Certain medicines - Long-term exposure to loud noise - Aging There are two main types of hearing loss. One happens when your inner ear or auditory nerve is damaged. This type is usually permanent. The other kind happens when sound waves cannot reach your inner ear. Earwax build-up, fluid, or a punctured eardrum can cause it. Treatment or surgery can often reverse this kind of hearing loss. Untreated, hearing problems can get worse. If you have trouble hearing, you can get help. Possible treatments include hearing aids, cochlear implants, special training, certain medicines, and surgery. NIH: National Institute on Deafness and Other Communication Disorders
A transient ischemic attack (TIA) is a stroke that comes and goes quickly. It happens when the blood supply to part of the brain stops briefly. Symptoms of a TIA are like other stroke symptoms, but do not last as long. They happen suddenly, and include - Numbness or weakness, especially on one side of the body - Confusion or trouble speaking or understanding speech - Trouble seeing in one or both eyes - Loss of balance or coordination Most symptoms of a TIA disappear within an hour, although they may last for up to 24 hours. Because you cannot tell if these symptoms are from a TIA or a stroke, you should get to the hospital quickly. TIAs are often a warning sign for future strokes. Taking medicine, such as blood thinners, may reduce your risk of a stroke. Your doctor might also recommend surgery. NIH: National Institute of Neurological Disorders and Stroke
Based on limited information, after an incubation period that could be as short as 2-4 days, the disease presents initially with non-specific flu-like symptoms, including fever, anorexia (loss of appetite), general malaise, diarrhea, and vomiting; a second phase has appeared in some patients, and includes neurologic and hemorrhagic symptoms in severe form. Multi-organ failure precedes fatal outcomes. No repeated or chronic symptoms have been reported following recovery. Evidence suggests that a milder form may exist, where hospitalization is not required. Thrombocytopenia, leukopenia, and elevated liver enzymes are nearly always observed in patients who have been hospitalized.
Most cases of juvenile Batten disease are caused by mutations in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. It is unclear how mutations in the CLN3 gene lead to the characteristic features of juvenile Batten disease. These mutations somehow disrupt the function of cellular structures called lysosomes. Lysosomes are compartments in the cell that normally digest and recycle different types of molecules. Lysosome malfunction leads to a buildup of fatty substances called lipopigments within these cell structures. These accumulations occur in cells throughout the body, but neurons in the brain seem to be particularly vulnerable to the damage caused by lipopigments. The progressive death of cells, especially in the brain, leads to vision loss, seizures, and intellectual decline in people with juvenile Batten disease. A small percentage of cases of juvenile Batten disease are caused by mutations in other genes. Many of these genes are involved in lysosomal function, and when mutated, can cause this or other forms of NCL.
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 : Regular physical activity is one of the most important things you can do for your health. It can help - Control your weight - Lower your risk of heart disease - Lower your risk for type 2 diabetes and metabolic syndrome - Lower your risk of some cancers - Strengthen your bones and muscles - Improve your mental health and mood - Improve your ability to do daily activities and prevent falls, if you're an older adult - Increase your chances of living longer Fitting regular exercise into your daily schedule may seem difficult at first. But even ten minutes at a time is fine. The key is to find the right exercise for you. It should be fun and should match your abilities. Centers for Disease Control and Prevention
What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase deficiency. 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 blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Abnormality of the immune system - Autosomal recessive inheritance - 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.
Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs by the time they are in their forties. The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea). Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. Other health problems, varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate), may also be present. Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. This condition is inherited in an autosomal dominant pattern.
Summary : Preparing for a disaster can reduce the fear, anxiety and losses that disasters cause. A disaster can be a natural disaster, like a hurricane, tornado, flood or earthquake. It might also be man-made, like a bioterrorist attack or chemical spill. You should know the risks and danger signs of different types of disasters. You should also have a disaster plan. Be ready to evacuate your home, and know how to treat basic medical problems. Make sure you have the insurance you need, including special types, like flood insurance. No matter what kind of disaster you experience, it causes emotional distress. After a disaster, recovery can take time. Stay connected to your family and friends during this period. Federal Emergency Management Agency
Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Only a few hundred affected individuals have been reported in the medical literature. Researchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. To make an accurate diagnosis, most doctors and researchers now follow a set of strict guidelines that define the signs and symptoms of Proteus syndrome.
Signs and symptoms of childhood CNS embryonal tumors or pineoblastomas depend on the child's age and where the tumor is. These and other signs and symptoms may be caused by childhood CNS embryonal tumors, pineoblastomas, or other conditions. Check with your child's doctor if your child has any of the following: - Loss of balance, trouble walking, worsening handwriting, or slow speech. - Lack of coordination. - Headache, especially in the morning, or headache that goes away after vomiting. - Double vision or other eye problems. - Nausea and vomiting. - General weakness or weakness on one side of the face. - Unusual sleepiness or change in energy level. - Seizures. Infants and young children with these tumors may be irritable or grow slowly. Also they may not eat well or meet developmental milestones such as sitting, walking, and talking in sentences.
Improvement in muscle strength usually begins within 3 to 6 weeks after treatment is started. Most patients who receive treatment early experience little, if any, disability. However, there is evidence of slow progression over many years.
Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 to 167,000 newborns in the United States. Researchers estimate that there are approximately 4,000 affected individuals worldwide.
Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. Congenital lactase deficiency, also called congenital alactasia, is a disorder in which infants are unable to break down lactose in breast milk or formula. This form of lactose intolerance results in severe diarrhea. If affected infants are not given a lactose-free infant formula, they may develop severe dehydration and weight loss. Lactose intolerance in adulthood is caused by reduced production of lactase after infancy (lactase nonpersistence). If individuals with lactose intolerance consume lactose-containing dairy products, they may experience abdominal pain, bloating, flatulence, nausea, and diarrhea beginning 30 minutes to 2 hours later. Most people with lactase nonpersistence retain some lactase activity and can include varying amounts of lactose in their diets without experiencing symptoms. Often, affected individuals have difficulty digesting fresh milk but can eat certain dairy products such as cheese or yogurt without discomfort. These foods are made using fermentation processes that break down much of the lactose in milk.
These resources address the diagnosis or management of GLUT1 deficiency syndrome: - G1D Registry - Gene Review: Gene Review: Glucose Transporter Type 1 Deficiency Syndrome - Genetic Testing Registry: Glucose transporter type 1 deficiency syndrome - The Glucose Transporter Type 1 Deficiency Syndrome Research Consortium (G1DRC) 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 X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Signs and symptoms of hypersensitivity pneumonitis (HP) depend on whether the disease is acute (short-term) or chronic (ongoing). Acute Hypersensitivity Pneumonitis With acute HP, symptoms usually occur within 29 hours of exposure to an antigen you're sensitive to. (An antigen is a substance that your body reacts against, such as molds, dusts, and chemicals.) Acute HP can cause chills, body aches, coughing, and chest tightness. After hours or days of no contact with the antigen, symptoms usually go away. Chronic Hypersensitivity Pneumonitis If acute HP isn't found and treated early, chronic HP may develop. With chronic HP, symptoms occur slowly, over months. Chronic HP can cause a worsening cough, shortness of breath with physical activity, fatigue (tiredness), and weight loss. Some symptoms may continue and/or worsen, even after avoiding the antigen. Chronic HP can cause long-term lung damage, such as pulmonary fibrosis. This is a condition in which tissue deep in your lungs becomes scarred over time. Clubbing also may occur if HP is severe. Clubbing is the widening and rounding of the tips of the fingers or toes. A low level of oxygen in the blood causes this condition.
What causes CADASIL? CADASIL is caused by a mutation in the NOTCH3 gene. The NOTCH3 gene gives the body instructions to make the Notch3 receptor protein, needed for normal function and survival of vascular smooth muscle cells. Mutations in NOTCH3 cause the body to make an abnormal protein, thus impairing the function and survival of vascular smooth muscle cells and causing these cells to self-destruct. The loss of vascular smooth muscle cells in the brain causes blood vessel damage that leads to the characteristic features of CADASIL.
Key Points - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Prostate cancer is the most common nonskin cancer among men in the United States. - Different factors increase or decrease the risk of developing prostate cancer. Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. The prostate is a gland in the male reproductive system located just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland produces fluid that makes up part of semen. As men age, the prostate may get bigger. A bigger prostate may block the flow of urine from the bladder and cause problems with sexual function. This condition is called benign prostatic hyperplasia (BPH), and although it is not cancer, surgery may be needed to correct it. The symptoms of benign prostatic hyperplasia or of other problems in the prostate may be similar to symptoms of prostate cancer. See the following PDQ summaries for more information about prostate cancer: - Prostate Cancer Prevention - Prostate Cancer Treatment
How might vernal keratoconjunctivitis be treated? Management of vernal keratoconjunctivitis (VKC) focuses on preventing allergic attacks as well as relieving the signs and symptoms of the condition. It is often recommended that affected individuals try to avoid the agent that causes the allergy (if possible); wear dark sunglasses in the daytime; avoid dust; and stay inside on hot afternoons. Eye drops that affect the amount of histamine released by immune system cells (called mast cell stabilizers) may be used at the beginning of the season or at the first sign of a "flare-up" to prevent severe symptoms; however, they are not considered effective at relieving symptoms. Topical eye drops are generally preferred as the first source of treatment. Cold compresses, artificial tears, ointments and/or topical antihistamines may help. Non-steroid anti-inflammatory drugs (NSAIDS) may relieve symptoms in moderate cases; topical steroids are typically only used for more severe cases because long-term use can cause glaucoma. A few prescription drugs may also be available for the treatment of VKC; these include cromolyn sodium, lodoxamide tromethamine and Levocabastine. Oral administration of montelukast, a drug usually prescribed for asthma, has also been shown to be an effective treatment of VKC. For more information about these drugs and their availability, individuals should speak with their health care providers.
MECP2 duplication syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability. Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. Some affected individuals experience the loss of previously acquired skills (developmental regression). Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.
Your stomach is an organ between your esophagus and small intestine. It is where digestion of protein begins. The stomach has three tasks. It stores swallowed food. It mixes the food with stomach acids. Then it sends the mixture on to the small intestine. Most people have a problem with their stomach at one time or another. Indigestion and heartburn are common problems. You can relieve some stomach problems with over-the-counter medicines and lifestyle changes, such as avoiding fatty foods or eating more slowly. Other problems like peptic ulcers or GERD require medical attention. You should see a doctor if you have any of the following: - Blood when you have a bowel movement - Severe abdominal pain - Heartburn not relieved by antacids - Unintended weight loss - Ongoing vomiting or diarrhea NIH: National Institute of Diabetes and Digestive and Kidney Diseases
These resources address the diagnosis or management of factor V Leiden thrombophilia: - American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing - Gene Review: Gene Review: Factor V Leiden Thrombophilia - GeneFacts: Factor V Leiden-Associated Thrombosis: Diagnosis - GeneFacts: Factor V Leiden-Associated Thrombosis: Management - Genetic Testing Registry: Thrombophilia due to activated protein C resistance - Genetic Testing Registry: Thrombophilia due to factor V Leiden - MedlinePlus Encyclopedia: Deep Venous Thrombosis - MedlinePlus Encyclopedia: Pulmonary Embolus 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
Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. Mutations in the RUNX2 gene cause most cases of cleidocranial dysplasia. This condition is inherited in an autosomal dominant pattern. In some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. Other cases result from new mutations (de novo mutations) in the RUNX2 gene. Dental problems are addressed with several procedures. Ear and sinus infections may be treated with antibiotics and use of ear tubes. In some cases surgery is needed for the cranial defect.
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if - You have abdominal pain that is sudden and sharp - You also have pain in your chest, neck or shoulder - You're vomiting blood or have blood in your stool - Your abdomen is stiff, hard and tender to touch - You can't move your bowels, especially if you're also vomiting
You can control - what you eat. Foods containing saturated fats, trans fats, and cholesterol raise your cholesterol. what you eat. Foods containing saturated fats, trans fats, and cholesterol raise your cholesterol. - your weight. Being overweight tends to increase your LDL level, reduce your HDL level, and increase your total cholesterol level. your weight. Being overweight tends to increase your LDL level, reduce your HDL level, and increase your total cholesterol level. - your activity level. If you don't exercise regularly, you may gain weight. This could increase your LDL level. Regular exercise can help you lose weight and lower your LDL level. It can also help you increase your HDL level. your activity level. If you don't exercise regularly, you may gain weight. This could increase your LDL level. Regular exercise can help you lose weight and lower your LDL level. It can also help you increase your HDL level.
These resources address the diagnosis or management of epidermolysis bullosa with pyloric atresia: - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center - Gene Review: Gene Review: Epidermolysis Bullosa with Pyloric Atresia - Genetic Testing Registry: Epidermolysis bullosa simplex with pyloric atresia - Genetic Testing Registry: Epidermolysis bullosa with pyloric atresia - MedlinePlus Encyclopedia: Epidermolysis Bullosa 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
Researchers funded by the National Institutes of Health are studying the causes of hearing loss as well as new treatments. For example, they are studying ways to improve hearing aids so that you can hear certain sounds more clearly even when you are surrounded by background noise. They are also working to to improve cochlear implants and develop diagnostic methods to determine who would benefit from two versus one cochlear implant, especially in young children. Finding ways to improve access to accessible and affordable hearing health care, including screening and assessment, hearing aid selection and fitting, and rehabilitation of hearing loss, is also a goal of currently funded research.
Summary : When will my baby take his first step or say her first word? During their first year, babies start to develop skills they will use for the rest of their lives. The normal growth of babies can be broken down into the following areas: - Gross motor - controlling the head, sitting, crawling, maybe even starting to walk - Fine motor - holding a spoon, picking up a piece of cereal between thumb and finger - Sensory - seeing, hearing, tasting, touching and smelling - Language - starting to make sounds, learning some words, understanding what people say - Social - the ability to play with family members and other children Babies do not develop at the same rate. There is a wide range of what is considered "normal." Your baby may be ahead in some areas and slightly behind in others. If you are worried about possible delays, talk to your baby's health care provider.
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. Signs and symptoms typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and occasionally seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections, periods without food (fasting), or increased intake of protein-rich foods. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the ACAT1 gene.
How is Fine-Lubinsky syndrome inherited? Almost all people reported to have FineLubinsky syndrome (FLS) have been the only affected people in their families (these cases were sporadic). There has been one report of an affected brother and sister with unaffected parents, suggesting autosomal recessive inheritance. Additional reports are needed to identify a possible genetic cause for the condition. Parents of a child with FLS should be aware that if the condition is inherited in an autosomal recessive manner, each of their children has a 25% (1 in 4) risk to be affected. Although karyotypes (pictures of chromosomes) have been reported as normal in affected people, the presence of a very small chromosomal rearrangement has not been excluded as a possible cause of FLS.
When Cornelia de Lange syndrome is caused by mutations in the NIPBL, RAD21, or SMC3 gene, the condition is considered to have 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. Most cases result from new gene mutations and occur in people with no history of the condition in their family. When Cornelia de Lange syndrome is caused by mutations in the HDAC8 or SMC1A gene, the condition has an X-linked dominant pattern of inheritance. 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. Studies of X-linked Cornelia de Lange syndrome indicate that one copy of the altered gene in each cell may be sufficient to cause the condition. Unlike X-linked recessive conditions, in which males are more frequently affected or experience more severe symptoms than females, X-linked dominant Cornelia de Lange syndrome appears to affect males and females similarly. Most cases result from new mutations in the HDAC8 or SMC1A gene and occur in people with no history of the condition in their family.
A fever is a body temperature that is higher than normal. It is not an illness. It is part of your body's defense against infection. Most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 F). A slight fever can make it harder for them to survive. Fever also activates your body's immune system. Infections cause most fevers. There can be many other causes, including - Medicines - Heat exhaustion - Cancers - Autoimmune diseases Treatment depends on the cause of your fever. Your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. Adults can also take aspirin, but children with fevers should not take aspirin. It is also important to drink enough liquids to prevent dehydration.
Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. Colpocephaly, one of a group of structural brain disorders known as cephalic disorders, is characterized by microcephaly (an abnormally small head) and impaired intellect. Other features may include movement abnormalities, muscle spasms, and seizures. Although the cause of colpocephaly is unknown, researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. Colpocephaly may be diagnosed late in pregnancy, although it is often misdiagnosed as hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). It may be more accurately diagnosed after birth when signs of impaired intellect, microcephaly, and seizures are present.
Mutations in the LGI1 gene cause ADPEAF. This gene provides instructions for making a protein called Lgi1 or epitempin, which is found primarily in nerve cells (neurons) in the brain. Although researchers have proposed several functions for this protein, its precise role in the brain remains uncertain. Mutations in the LGI1 gene likely disrupt the function of epitempin. It is unclear how the altered protein leads to seizure activity in the brain. LGI1 mutations have been identified in about half of all families diagnosed with ADPEAF. In the remaining families, the cause of the condition is unknown. Researchers are searching for other genetic changes that may underlie the condition.
The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome types I and II appear to be the most common forms.
Home health care is short-term skilled care at home after hospitalization or for the treatment of an illness or injury. Home health agencies provide home care services, including skilled nursing care, physical therapy, occupational therapy, speech therapy, medical social work, and care by home health aides. Home health services may also include durable medical equipment, such as wheelchairs, hospital beds, oxygen, and walkers, and medical supplies for use at home.
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is thought to be a rare condition. Approximately 30 cases have been described in the scientific literature, including seven families with Navajo neurohepatopathy. Within the Navajo Nation of the southwestern United States, Navajo neurohepatopathy is estimated to occur in 1 in 1,600 newborns.
These resources address the diagnosis or management of incontinentia pigmenti: - Gene Review: Gene Review: Incontinentia Pigmenti - Genetic Testing Registry: Incontinentia pigmenti syndrome - MedlinePlus Encyclopedia: Incontinentia Pigmenti 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

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