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Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. There are both acute and chronic forms. Although it is quite common among elderly adults with salivary gland stones, sialadenitis can also occur in other age groups, including infants during the first few weeks of life. Without proper treatment, sialadenitis can develop into a severe infection, especially in people who are debilitated or elderly.
It is important to keep a copy of your medical records to share with any new doctors that you see. This information should contain the type of cancer you were diagnosed with, test results, and treatment details. It is also essential to include information about any medical conditions, medications and supplements you take, and the doctors that you are seeing.
Respiratory failure happens when not enough oxygen passes from your lungs into your blood. Your body's organs, such as your heart and brain, need oxygen-rich blood to work well. Respiratory failure also can happen if your lungs can't remove carbon dioxide (a waste gas) from your blood. Too much carbon dioxide in your blood can harm your body's organs. Diseases and conditions that affect your breathing can cause respiratory failure. Examples include - Lung diseases such as COPD (chronic obstructive pulmonary disease), pneumonia, pulmonary embolism, and cystic fibrosis - Conditions that affect the nerves and muscles that control breathing, such as spinal cord injuries, muscular dystrophy and stroke - Damage to the tissues and ribs around the lungs. An injury to the chest can cause this damage. - Drug or alcohol overdose - Injuries from inhaling smoke or harmful fumes Treatment for respiratory failure depends on whether the condition is acute (short-term) or chronic (ongoing) and how severe it is. It also depends on the underlying cause. You may receive oxygen therapy and other treatment to help you breathe. NIH: National Heart, Lung, and Blood Institute
SPENCDI appears to be a rare condition, although its prevalence is unknown.
Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The part of the body where the tumor first formed. - The size and grade of the tumor. - The type of soft tissue sarcoma. - How deep the tumor is under the skin. - Whether the tumor has spread to other places in the body. - The amount of tumor remaining after surgery to remove it. - Whether radiation therapy was used to treat the tumor. - The age and gender of the patient. - Whether the cancer has just been diagnosed or has recurred (come back).
Metabolic syndrome has several causes that act together. You can control some of the causes, such as overweight and obesity, an inactive lifestyle, and insulin resistance. You can't control other factors that may play a role in causing metabolic syndrome, such as growing older. Your risk for metabolic syndrome increases with age. You also can't control genetics (ethnicity and family history), which may play a role in causing the condition. For example, genetics can increase your risk for insulin resistance, which can lead to metabolic syndrome. People who have metabolic syndrome often have two other conditions: excessive blood clotting and constant, low-grade inflammation throughout the body. Researchers don't know whether these conditions cause metabolic syndrome or worsen it. Researchers continue to study conditions that may play a role in metabolic syndrome, such as: A fatty liver (excess triglycerides and other fats in the liver) Polycystic ovarian syndrome (a tendency to develop cysts on the ovaries) Gallstones Breathing problems during sleep (such as sleep apnea)
Bethlem myopathy is an inherited movement disorder characterized by progressive muscle weakness and joint stiffness (contractures) in the fingers, wrists, elbows, and ankles. Due to a progressive course, up to two-thirds of people with this condition require a walker or wheelchair after the age of 50. Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Most cases are inherited in an autosomal dominant pattern and occur as the result of a new mutation. In rare cases, the disease follows an autosomal recessive pattern of inheritance. Treatment depends upon individual symptoms, but routinely involves physical therapy. Surgery or other measures may be undertaken as needed.
A prolactinoma is a tumor of the pituitary gland, which controls production of many hormones. A prolactinoma causes increased levels of the hormone prolactin. The symptoms of prolactinoma may include unusual milk production (galactorrhea) or no menstrual cycles (amenorrhea) in women or decreased sex drive in men. Most prolactinomas occur by chance (sporadically); in a small number of cases, prolactinoma may be associated with an inherited condition such as Multiple Endocrine Neoplasia type 1 (MEN1) or other genetic factor.
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 typically must 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. In X-linked recessive inheritance, females with one altered copy of the gene in each cell are called carriers. They can pass on the gene to their children, but they usually do not experience signs and symptoms of the disorder. However, a few females carrying one altered copy of the TAF1 gene have developed movement abnormalities associated with X-linked dystonia-parkinsonism. These movement problems tend to be milder than those seen in affected men, and they are usually not progressive or disabling.
Disseminated peritoneal leiomyomatosis (DPL) is a rare condition which is characterized by nodules or small lumps of smooth muscle cells located on the peritoneum (lining of the abdominal wall) and abdominal organs.The condition is usually benign (noncancerous) but in rare cases has become cancerous. Although it can be seen in post-menopausal women and very rarely in men, DPL occurs most often in women of childbearing age. Most women with DPL are pregnant, taking the birth control pill, or have uterine leioyomas or estrogen-secreting tumors. Some people with DPL have no signs or symptoms of the condition. When present, symptoms may include abdominal and pelvic pain; rectal or vaginal bleeding; and less commonly constipation. The cause of DPL is unknown but may be linked to hormonal and genetic factors. Some cases of DPL resolve when hormone levels are returned to normal. However, surgery may be suggested based on the size and location of the tumor.
What are the signs and symptoms of Hepatocellular carcinoma, childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - 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.
These resources address the diagnosis or management of primary myelofibrosis: - Genetic Testing Registry: Myelofibrosis - Merck Manual Professional Version: Primary Myelofibrosis - Myeloproliferative Neoplasm (MPN) Research Foundation: Primary Myelofibrosis (PMF) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How might dermatitis herpetiformis be treated? The antibiotic dapsone is extremely effective in treating this condition. Symptomatic improvement may occur in as little as several hours after the first dose. However, dapsone may cause serious side effects and requires regular monitoring by a physician. When this medication is used to relieve the symptoms of dermatitis herpetiformis, it should be taken in the smallest effective dose and for the shortest period possible. In some cases, immunosuppressive medications may be used. These medications do not appear to be as effective. A strict gluten-free diet is also recommended to help control the disease. Following this diet may eliminate the need for medications and prevent later complications.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. NINDS researchers are working to better understand the process by which the immune system destroys or attacks the nerve insulating substance called myelin in autoijmune diseases or disorders. Other work focuses on strategies to repair demyelinated spinal cords, including approaches using cell transplantation. this research may lead to a grater understanding of the mechanisms responsible for damaging myelin and may ultimately provide a means to prevent and treat transverse myelitis An NINDS-funded study comparing clinical MRI and lumbar puncture of healthy individuals to those with symptoms of immune-related central nervous system damage hopes to identify processes or mechanisms to inhibit or minimize spinal tissue damage and enhance recovery mechanisms. Multiple studies are looking at ways to target different components of the immune system known to be involved in NMO spectrum disorders to allow more directly targeted treatment of this disease.
Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "S" or "C" shape; the bones of the spine are also slightly twisted or rotated. Adolescent idiopathic scoliosis appears during the adolescent growth spurt, a time when children are growing rapidly. In many cases the abnormal spinal curve is stable, although in some children the curve is progressive (meaning it becomes more severe over time). For unknown reasons, severe and progressive curves occur more frequently in girls than in boys. However, mild spinal curvature is equally common in girls and boys. Mild scoliosis generally does not cause pain, problems with movement, or difficulty breathing. It may only be diagnosed if it is noticed during a regular physical examination or a scoliosis screening at school. The most common signs of the condition include a tilt or unevenness (asymmetry) in the shoulders, hips, or waist, or having one leg that appears longer than the other. A small percentage of affected children develop more severe, pronounced spinal curvature. Scoliosis can occur as a feature of other conditions, including a variety of genetic syndromes. However, adolescent idiopathic scoliosis typically occurs by itself, without signs and symptoms affecting other parts of the body.
Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in the two bones that make up much of the top and sides of the skull (enlarged parietal foramina). These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have. Unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life. The signs and symptoms of Potocki-Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected individuals often have intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills. Many people with this condition have distinctive facial features, which can include a wide, short skull (brachycephaly); a prominent forehead; a narrow bridge of the nose; a shortened distance between the nose and upper lip (a short philtrum); and a downturned mouth. Less commonly, Potocki-Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary tract.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research relating to CRPS and also support additional research through grants to major medical institutions across the country. NINDS-supported scientists are studying new approaches to treat CRPS and intervene more aggressively after traumatic injury to lower the chances of developing the disorder. Researchers hope to identify specific cellular and molecular changes in sensory neurons following peripheral nerve injury to better understand the processes that underlie neuroplasticity (the brains ability to reorganize or form new nerve connections and pathways following injury or death of nerve cells). Identifying these mechanisms could provide targets for new drug therapies that could improve recovery following regeneration. Other researchers hope to better understand how CRPS develops by studying immune system activation and peripheral nerve signaling using an animal model of the disorder.
How might congenital sucrase-isomaltase deficiency (CSID) be treated? CSID is typically treated by modifying a person's diet to reduce the amount of sucrose. Because many foods contain sucrose and other complex sugars, it can be difficult to completely remove sucrase from the diet. Sucraid is an oral medication containing the enzyme that does not work properly in people with this condition. By taking this medication, those with CSID can eat sucrose-containing foods because this enzyme will break down sucrose. This medication must be taken with each meal or snack.
RAPADILINO syndrome is a rare condition, although its worldwide prevalence is unknown. The condition was first identified in Finland, where it affects an estimated 1 in 75,000 individuals, although it has since been found in other regions.
Waldenstrm macroglobulinemia is usually not inherited, and most affected people have no history of the disorder in their family. The condition usually arises from mutations that are acquired during a person's lifetime (somatic mutations), which are not inherited. Some families seem to have a predisposition to the condition. Approximately 20 percent of people with Waldenstrm macroglobulinemia have a family member with the condition or another disorder involving abnormal B cells.
Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. 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 6p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.
These resources address the diagnosis or management of Schimke immuno-osseous dysplasia: - Gene Review: Gene Review: Schimke Immunoosseous Dysplasia - Genetic Testing Registry: Schimke immunoosseous dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Learning disabilities are disorders that affect the ability to understand or use spoken or written language, do mathematical calculations, coordinate movements, or direct attention. Although learning disabilities occur in very young children, the disorders are usually not recognized until the child reaches school age. Research shows that 8 to 10 percent of American children under 18 years of age have some type of learning disability.
These resources address the diagnosis or management of gnathodiaphyseal dysplasia: - Cleveland Clinic: Osteomyelitis - MedlinePlus Encyclopedia: Bone Mineral Density Testing 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 Kniest dysplasia: - Genetic Testing Registry: Kniest dysplasia - MedlinePlus Encyclopedia: Clubfoot - MedlinePlus Encyclopedia: Retinal Detachment - MedlinePlus Encyclopedia: Scoliosis 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 ocular albinism: - Gene Review: Gene Review: Ocular Albinism, X-Linked - Genetic Testing Registry: Albinism ocular late onset sensorineural deafness - Genetic Testing Registry: Albinism, ocular, with sensorineural deafness - Genetic Testing Registry: Ocular albinism, type I - MedlinePlus Encyclopedia: Albinism 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
- Autoimmune hepatitis is a chronicor long lastingdisease in which the body's immune system attacks the liver and causes inflammation and damage. - Autoimmune hepatitis is a serious condition that may worsen over time if not treated. Autoimmune hepatitis can lead to cirrhosis and liver failure. - Autoimmune hepatitis is more common in females. The disease can occur at any age and affects all ethnic groups. - Autoimmune hepatitis is classified as type 1 or type 2. - A health care provider will make a diagnosis of autoimmune hepatitis based on symptoms, a physical exam, blood tests, and a liver biopsy. - A person usually needs blood tests for an exact diagnosis because a person with autoimmune hepatitis can have the same symptoms as those of other liver diseases or metabolic disorders. - Treatment for autoimmune hepatitis includes medication to suppress, or slow down, an overactive immune system. - Treatment works best when autoimmune hepatitis is diagnosed early. - People with autoimmune hepatitis generally respond to standard treatment and the disease can be controlled in most cases. - In some people, autoimmune hepatitis progresses to cirrhosis and end-stage liver failure, and a liver transplant may be necessary.
People with diverticulitis may have many symptoms, the most common of which is pain in the lower left side of the abdomen. The pain is usually severe and comes on suddenly, though it can also be mild and then worsen over several days. The intensity of the pain can fluctuate. Diverticulitis may also cause - fevers and chills - nausea or vomiting - a change in bowel habitsconstipation or diarrhea - diverticular bleeding In most cases, people with diverticular bleeding suddenly have a large amount of red or maroon-colored blood in their stool. Diverticular bleeding may also cause - weakness - dizziness or light-headedness - abdominal cramping
What causes florid cemento-osseous dysplasia? The cause of florid cemento-osseous dysplasia is not known. This condition is usually not familial (i.e., does not tend to run in families), however a rare familial form has been described in a few families. In these families the condition affected younger individuals, and the rate of lesion growth was rapid.
These resources address the diagnosis or management of anencephaly: - Children's Hospital of Philadelphia - Genetic Testing Registry: Anencephalus - Genetic Testing Registry: Neural tube defect - Genetic Testing Registry: Neural tube defects, folate-sensitive 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
An accessory navicular bone is a small bone located in the middle of the foot. It is near the navicular bone, the bone that goes across the foot near the instep. It is a common trait, estimated to be in approximately 2 to 12% of the general population and up to 14% of children. This bone may develop a bump that can cause irritation, swelling, and pain. Click here to view a diagram of the foot.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Most X-linked disorders affect males much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In some cases of Lowe syndrome, an affected male inherits the mutation from a mother who carries one altered copy of the OCRL gene. Other cases result from new mutations in the gene and occur in males with no history of the disorder in their family. Females who carry one mutated copy of the OCRL gene do not have the characteristic features of Lowe syndrome. Most female carriers, however, have changes in the lens of the eye that can be observed with a thorough eye examination. These changes typically do not impair vision.
Smoking cigarettes has many health risks for everyone. However, the younger you are when you start smoking, the more problems it can cause. People who start smoking before the age of 21 have the hardest time quitting. Teens who smoke are also more likely to use alcohol and illegal drugs. The problem is not just cigarettes. Spit tobacco, e-cigarettes, and cigars are not safe alternatives to cigarettes. Low-tar and additive-free tobacco products are not safe either. Young people who do not start using tobacco by age 18 will most likely never start. Centers for Disease Control and Prevention
What are the signs and symptoms of pars planitis? Pars planitis is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. Approximately 80% of cases are bilateral (affecting both eyes), although one eye is typically more affected than the other. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop.
What are the signs and symptoms of Uhl anomaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Uhl anomaly. 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 endocardium 90% Abnormality of the pulmonary artery 90% Autosomal dominant inheritance - Heterogeneous - Sudden cardiac death - Ventricular arrhythmia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Hepatoblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatoblastoma. 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 - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - 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.
Perry syndrome results from mutations in the DCTN1 gene. This gene provides instructions for making a protein called dynactin-1, which is involved in the transport of materials within cells. To move materials, dynactin-1 interacts with other proteins and with a track-like system of small tubes called microtubules. These components work together like a conveyer belt to move materials within cells. This transport system appears to be particularly important for the normal function and survival of nerve cells (neurons) in the brain. Mutations in the DCTN1 gene alter the structure of dynactin-1, making it less able to attach (bind) to microtubules and transport materials within cells. This abnormality causes neurons to malfunction and ultimately die. A gradual loss of neurons in areas of the brain that regulate movement, emotion, and breathing underlies the signs and symptoms of Perry syndrome.
How might Gorham disease be treated? No specific therapy exists for people with Gorham's disease. Certain treatments may be effective in some, but not others. Several different methods are often used before finding one that is effective. In some cases, treatment may not be necessary. Most people require intense treatment, especially if the disease has spread to other areas of the body or if there is extensive involvement in the spine and skull. Treatment options include radiation therapy, steroids, and/or surgery that may involve bone grafting. Other treatments might include biphosphonates (such as pamidronate or zoledronic acid) and alpha-2b interferon. These treatments have led to improvement of symptoms in some cases. More research is necessary to determine the long-term safety and effectiveness of these therapies in people with Gorham's disease. All treatments (pharmacological and surgical) are all still considered to be experimental since there have been no studies done to examine the effectiveness of anything used to date. In general, no single treatment has been proven effective in stopping the progression of the disease.
Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up. Individuals with myotonia may have trouble releasing their grip on objects or may have difficulty rising from a seated position. They may walk with a stiff, awkward gait. Myotonia is caused by an abnormality in the muscle membrane, and is often associated with inherited neurological disorders. Myotonia is commonly seen in individuals with myotonic muscular dystrophy, myotonia congenita, and in people who have one of a group of neurological disorders called the channelopathies, which are inherited diseases that are caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Myotonia may also be triggered by exposure to cold.
These resources address the diagnosis or management of Brooke-Spiegler syndrome: - Genetic Testing Registry: Spiegler-Brooke 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
Geroderma osteodysplastica is an autosomal recessive disorder characterized by lax, wrinkled skin, loose joints and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia (underdeveloped cheekbones and jaw) and a variable degree of growth deficiency. This condition is caused by mutations in the GORAB gene.
How is dentatorubral-pallidoluysian atrophy (DRPLA) inherited?
DICER1 syndrome is caused by mutations in the DICER1 gene. This gene provides instructions for making a protein that is involved in the production of molecules called microRNA (miRNA). MicroRNA is a type of RNA, a chemical cousin of DNA, that attaches to a protein's blueprint (a molecule called messenger RNA) and blocks the production of proteins from it. Through this role in regulating the activity (expression) of genes, the Dicer protein is involved in many processes, including cell growth and division (proliferation) and the maturation of cells to take on specialized functions (differentiation). Most of the gene mutations involved in DICER1 syndrome lead to an abnormally short Dicer protein that is unable to aid in the production of miRNA. Without appropriate regulation by miRNA, genes are likely expressed abnormally, which could cause cells to grow and divide uncontrollably and lead to tumor formation.
Infantile-onset ascending hereditary spastic paralysis is a motor neuron disease characterized by progressive weakness and stiffness of muscles in the arms, legs, and face. Initial symptoms usually occur within the first 2 years of life and include weakness of the legs, leg muscles that are abnormally tight and stiff, and eventual paralysis of the legs. Over time, muscle weakness and stiffness travels up (ascends) the body from the legs to the head. Infantile-onset ascending hereditary spastic paralysisis caused by mutations in the ALS2 gene, and this condition is inherited in an autosomal recessive pattern.
These resources address the diagnosis or management of X-linked adrenoleukodystrophy: - Gene Review: Gene Review: X-Linked Adrenoleukodystrophy - Genetic Testing Registry: Adrenoleukodystrophy - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Adrenoleukodystrophy - National Marrow Donor Program - X-linked Adrenoleukodystrophy Database: Diagnosis of X-ALD These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How might non-involuting congenital hemangioma treated? Because non-involuting congenital hemangioma (NICH) is quite rare, there are no established guidelines for the treatment of this condition. However, the authors of one article on NICH suggest that there is no risk for excessive bleeding during the removal of an NICH and it is unlikely to regrow after surgery. Because NICH is a benign skin mark, surgery isn't necessary but can be considered to improve appearance of the skin.
These resources address the diagnosis or management of thiopurine S-methyltransferase deficiency: - MedlinePlus Drug: Azathioprine - MedlinePlus Drug: Mercaptopurine - MedlinePlus Drug: Thioguanine 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 prevalence of deoxyguanosine kinase deficiency is unknown. Approximately 100 affected individuals have been identified.
How might trismus-pseudocamptodactyly syndrome be treated? While the best treatment options for trismus-pseudocamptodactyly syndrome have not been well established cases of improvement of mouth mobility following surgery and physical therapy have been reported in the medical literature. We recommend that you speak with your healthcare provider to learn more about specific treatment options.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health (NIH), the leading supporter of biomedical research in the world. the NINDS and other NIH Institutes supports the Lysosomal Diseases Netowrk, which addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. Additional research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS-funded research on the gangliosidoses includes using variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression. Other research is expanding the use of virus-delivered gene therapy seen in an animall model of Tay-Sachs disease for use in humans.
Dicarboxylic aminoaciduria is a rare metabolic disorder characterized by the excessive loss of aspartate and glutamate in urine. Symptoms have varied greatly among the few reported cases. Dicarboxylic aminoaciduria is caused by mutations in the SLC1A1 gene. It is inherited in an autosomal recessive fashion.
Christianson syndrome is a rare condition, although the exact prevalence is unknown. The condition was first described in a South African family and has since been found people in other parts of the world.
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.
Mutations in the IVD gene cause isovaleric acidemia. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.
What causes Bethlem myopathy? Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle. Type VI collagen makes up part of the extracellular matrix, an intricate lattice that forms in the space between cells and provides structural support to the muscles. Mutations in the type VI collagen genes result in the formation of abnormal type VI collagen or reduced amounts of type VI collagen. This decrease in normal type VI collagen disrupts the extracellullar matrix surrounding muscle cells, leading to progressive muscle weakness and the other signs and symptoms of Bethlem myopathy.
There is no specific treatmentfor OPCA. Physicians may try different medications to treat the ataxia, tremor, and rigidity that are associated with the disorder. Other treatments are directed at specific symptoms. Stiffness, spasms, sleep disorders, depression, and tremor may be improved with medication. A physical therapist may be helpful in establishing a routine of exercise and stretching, and in obtaining devices or appliances to assist in walking and other daily activities.
Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.
Summary : Traveling can increase your chances of getting sick. A long flight can increase your risk for deep vein thrombosis. Once you arrive, it takes time to adjust to the water, food, and air in another place. Water in developing countries can contain viruses, bacteria, and parasites that cause stomach upset and diarrhea. Be safe by using only bottled or purified water for drinking, making ice cubes, and brushing your teeth. If you use tap water, boil it or use iodine tablets. Food poisoning can also be a risk. Eat only food that is fully cooked and served hot. Avoid unwashed or unpeeled raw fruits and vegetables. If you are traveling out of the country, you might also need vaccinations or medicines to prevent specific illnesses. Which ones you need will depend on what part of the world you're visiting, the time of year, your age, overall health status, and previous immunizations. See your doctor 4 to 6 weeks before your trip. Most vaccines take time to become effective. Centers for Disease Control and Prevention
How is achalasia diagnosed? Achalasia is suspected in individuals with dysphagia (difficulty swallowing) and in instances where regurgitation symptoms are not responsive to protein pump inhibitor medication. The diagnosis of achalasia is confirmed by manometry (test that measures how well the esophagus is working); however, other tests such as upper endoscopy and upper GI X-ray can additionally be useful.
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.
FIPA is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, only 20 to 30 percent of individuals with an AIP gene mutation develop a pituitary adenoma. This phenomenon, in which some individuals with a mutation do not develop the features of a particular disorder, is called incomplete penetrance.
Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: 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.
This condition is inherited in an X-linked recessive pattern. The NYX and CACNA1F genes are 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. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carriers of an NYX or CACNA1F mutation can pass on the mutated gene, but most do not develop any of the vision problems associated with X-linked congenital stationary night blindness. However, carriers may have retinal changes that can be detected with an electroretinogram.
Frequently Asked Queestions (FAQs)
How is sideroblastic anemia diagnosed? The principle feature of sideroblastic anemia is slowly progressive, mild, life-long anemia which often goes unnoticed. Symptoms of iron overload may lead to the discovery of this underlying disorder. The history and clinical findings, together with laboratory findings, usually permit accurate diagnosis of each type. Laboratory evaluation may include complete blood count, iron studies, free erythrocyte protoporphyrin levels, MRI, bone marrow aspiration and liver biopsy. Molecular defects can be identified in several hereditary forms and in some patients with acquired sideroblastic anemia.
These resources address the diagnosis or management of Huntington disease-like syndrome: - Gene Review: Gene Review: Huntington Disease-Like 2 - Gene Review: Gene Review: Spinocerebellar Ataxia Type 17 - Genetic Testing Registry: Huntington disease-like 1 - Genetic Testing Registry: Huntington disease-like 2 - Genetic Testing Registry: Huntington disease-like 3 - Genetic Testing Registry: Spinocerebellar ataxia 17 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
Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in places where two areas of skin touch or rub together (i.e. the armpit, groin, etc). LPP is a chronic, relapsing condition with periods of exacerbations (worsening symptoms) separated by periods of remission (a decrease in or disappearance of symptoms). Although the exact underlying cause of LPP is unknown, studies suggest that UV light, viral infections, and certain topical (applied to the skin) agents such as mustard oil and amla oil, may trigger the condition. Treatment for LPP is symptomatic.
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.
If you smoke cigarettes, you are at much higher risk for lung cancer than a person who has never smoked. The risk of dying from lung cancer is 23 times higher for men who smoke and 13 times higher for women who smoke than for people who have never smoked. Stopping smoking greatly reduces your risk for developing lung cancer. But after you stop, the risk goes down slowly. Ten years after the last cigarette, the risk of dying from lung cancer drops by 50 percent. Each U.S. state and territory has a free quitline to provide you with information and resources to help you quit smoking. To reach the quitline in your area, dial toll-free, 1-800-QUIT-NOW. (Watch the video to learn about the effect smoking can have on an older adult's health. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)
What are the signs and symptoms of Hemangiopericytoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemangiopericytoma. 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 cardiovascular 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.
How is alpha-thalassemia x-linked intellectual disability syndrome inherited? Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is caused by a mutation in the ATRX gene and is inherited in an x-linked way. The chance that a relative may have ATRX syndrome depends on whether the mutation in the first affected family member was inherited from his mother or happened by chance (a de novo mutation). If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition. If the mutation was inherited from his mother, each of his mother's sisters has a 50% of being a carrier of ATRX syndrome. If a woman is a carrier of an ATRX mutation, she has a 25% chance of having a son with the mutation who is affected with ATRX syndrome; a 25% chance of having a son who does not have the mutation and does not have ATRX syndrome; a 25% chance of having a daughter with the mutation who is a carrier of ATRX syndrome; and a 25% chance of having a daughter who does not have the mutation and is not a carrier.
The prognosis for lupus varies widely depending on the organs involved and the intensity of the inflammatory reaction. The course of lupus is commonly chronic and relapsing, often with long periods of remission. Most individuals with lupus do not develop serious health problems and have a normal lifespan with periodic doctor visits and treatments with various drugs.
How is Langerhans cell histiocytosis diagnosed? Testing for Langerhans cell histiocytosis (LCH) may include bronchoscopy with biopsy, x-ray, skin biopsy, bone marrow biopsy, complete blood count, and pulmonary function tests. Because LCH is sometimes associated with cancer, CT scans and a biopsy may be done to rule out possible cancer. Additional information about the diagnosis of LCH can be viewed on the Histiocytosis Association's website.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Paresthesia refers to a burning or prickling sensation that is usually felt in the hands, arms, legs, or feet, but can also occur in other parts of the body. The sensation, which happens without warning, is usually painless and described as tingling or numbness, skin crawling, or itching. Most people have experienced temporary paresthesia -- a feeling of "pins and needles" -- at some time in their lives when they have sat with legs crossed for too long, or fallen asleep with an arm crooked under their head. It happens when sustained pressure is placed on a nerve. The feeling quickly goes away once the pressure is relieved. Chronic paresthesia is often a symptom of an underlying neurological disease or traumatic nerve damage. Paresthesia can be caused by disorders affecting the central nervous system, such as stroke and transient ischemic attacks (mini-strokes), multiple sclerosis, transverse myelitis, and encephalitis. A tumor or vascular lesion pressed up against the brain or spinal cord can also cause paresthesia. Nerve entrapment syndromes, such as carpal tunnel syndrome, can damage peripheral nerves and cause paresthesia accompanied by pain. Diagnostic evaluation is based on determining the underlying condition causing the paresthetic sensations. An individual's medical history, physical examination, and laboratory tests are essential for the diagnosis. Physicians may order additional tests depending on the suspected cause of the paresthesia.
These resources address the diagnosis or management of amelogenesis imperfecta: - Genetic Testing Registry: Amelogenesis imperfecta - hypoplastic autosomal dominant - local - Genetic Testing Registry: Amelogenesis imperfecta, hypocalcification type - Genetic Testing Registry: Amelogenesis imperfecta, type 1E - Genetic Testing Registry: Amelogenesis imperfecta, type IC - MedlinePlus Encyclopedia: Amelogenesis imperfecta - MedlinePlus Encyclopedia: Tooth - Abnormal Colors 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
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of brain dysfunction (encephalopathy) similar to stroke, involving altered consciousness and areas of damage (lesions) in the brain. Other features of AMACR deficiency may include weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and difficulty coordinating movements (ataxia). Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder.
Is frontal fibrosing alopecia inherited? Frontal fibrosing alopecia is not thought to be inherited in most cases. It rarely affects more than one person in a family.
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 48,XXYY syndrome: - Genetic Testing Registry: XXYY 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
These resources address the diagnosis or management of giant congenital melanocytic nevus: - Cleveland Clinic: The Facts About Melanoma - Genetic Testing Registry: Giant pigmented hairy nevus - MedlinePlus Encyclopedia: Giant Congenital Nevus - Nevus Outreach: Treatment Options - Primary Care Dermatology Society 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
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis.
Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin. The nodules become inflamed and painful. They tend to break open (rupture), causing abscesses that drain fluid and pus. As the abscesses heal, they produce significant scarring of the skin. The signs and symptoms of hidradenitis suppurativa appear after puberty, usually in a person's teens or twenties. Nodules are most likely to form in the armpits and groin. They may also develop around the anus, on the buttocks, or under the breasts. In some cases, nodules appear in other areas, such as the nape of the neck, waist, and inner thighs. The recurrent nodules and abscesses cause chronic pain and can lead to self-consciousness, social isolation, and depression. Rarely, nodules on the buttocks can develop into a type of skin cancer called squamous cell carcinoma.
What causes mucopolysaccharidosis I (MPS I)? Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder.
Most cases of adiposis dolorosa are sporadic, which means they occur in people with no history of the disorder in their family. A small number of familial cases of adiposis dolorosa have been reported. When the condition runs in families, it appears to have an autosomal dominant pattern of inheritance because affected individuals inherit the condition from one affected parent. This pattern of inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder.
There is no cure for Rett syndrome. Treatment for the disorder is symptomatic, focusing on the management of symptoms, and supportive. Medication may be needed for breathing irregularities and motor difficulties, and antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy may prolong mobility. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs to help them maintain adequate weight. Special academic, social, vocational, and support services may be required in some cases.
Sideroblastic anemia is a heterogeneous group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with these anemias. Sideroblastic anemias are classified as hereditary, acquired, and reversible.
Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. However, this estimate may be too low because Joubert syndrome has such a large range of possible features and is likely underdiagnosed.
Nearly 18 million U.S. adultsabout one in 12have fecal incontinence.1 People of any age can have a bowel control problem, though fecal incontinence is more common in older adults. Fecal incontinence is slightly more common among women. Having any of the following can increase the risk: - diarrhea, which is passing loose, watery stools three or more times a day - urgency, or the sensation of having very little time to get to the toilet for a bowel movement - a disease or injury that damages the nervous system - poor overall health from multiple chronic, or long lasting, illnesses - a difficult childbirth with injuries to the pelvic floorthe muscles, ligaments, and tissues that support the uterus, vagina, bladder, and rectum
Short bowel syndrome is a group of problems related to poor absorption of nutrients. Short bowel syndrome typically occurs in people who have - had at least half of their small intestine removed and sometimes all or part of their large intestine removed - significant damage of the small intestine - poor motility, or movement, inside the intestines Short bowel syndrome may be mild, moderate, or severe, depending on how well the small intestine is working. People with short bowel syndrome cannot absorb enough water, vitamins, minerals, protein, fat, calories, and other nutrients from food. What nutrients the small intestine has trouble absorbing depends on which section of the small intestine has been damaged or removed.
The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought to be a rare disorder. A few affected individuals and families have been described in the medical literature.
The incidence of hereditary multiple osteochondromas is estimated to be 1 in 50,000 individuals. This condition occurs more frequently in some isolated populations: the incidence is approximately 1 in 1,000 in the Chamorro population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, Canada.
How is situs inversus diagnosed? A thorough physical examination, followed by radiographic imaging of the chest and abdomen and electrocardiography, identify most cases of situs inversus. The main diagnostic challenge in affected people is the non-traditional presence of referred pain (pain felt in a different location than its source).
Signs and symptoms of hairy cell leukemia include infections, tiredness, and pain below the ribs. These and other signs and symptoms may be caused by hairy cell leukemia or by other conditions. Check with your doctor if you have any of the following: - Weakness or feeling tired. - Fever or frequent infections. - Easy bruising or bleeding. - Shortness of breath. - Weight loss for no known reason. - Pain or a feeling of fullness below the ribs. - Painless lumps in the neck, underarm, stomach, or groin.
What causes fragile X syndrome? Mutations (changes) in the FMR1 gene cause fragile X syndrome (FXS). This gene carries instructions to make a protein called the fragile X mental retardation 1 protein. The FMR1 gene contains a section of DNA called a CGG triplet repeat, which normally repeats from 5 to around 40 times. In most cases of FXS, this section of DNA is repeated more than 200 times, which "turns off" the FMR1 gene and disrupts the function of the nervous system. In a small portion of cases, other types of changes in the FMR1 gene cause FXS. These changes may involve a deletion of all or part of the gene, or a change in the building blocks (amino acids) used to make the gene's protein. People with 55 to 200 repeats of the CGG segment are said to have an FMR1 premutation. Most people with a premutation are intellectually normal. In some cases, people with a premutation have lower levels of the gene's protein and may have some mild symptoms of FXS. About 20% of women with a premutation have premature ovarian failure, and some people with a premutation have an increased risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS).
Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.
Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This condition is more common in certain populations, affecting up to 1 in 2,500 newborns.
Ataxia neuropathy spectrum is caused by mutations in the POLG gene or, rarely, the C10orf2 gene. The POLG gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). The C10orf2 gene provides instructions for making a protein called Twinkle. Pol and Twinkle function in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol and Twinkle are both integral to the process of DNA replication by which new copies of mtDNA are produced. Mutated pol or mutated Twinkle reduce mtDNA replication. Although the mechanisms are unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), and mutations in the C10orf2 gene often result in deletions of large regions of mtDNA (mtDNA deletion). MtDNA depletion or deletion occurs most commonly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of ataxia neuropathy spectrum. It is unclear what role mtDNA deletions play in the signs and symptoms of the condition.
Coronary artery disease (CAD) is the most common type of heart disease. It is the leading cause of death in the United States in both men and women. CAD happens when the arteries that supply blood to heart muscle become hardened and narrowed. This is due to the buildup of cholesterol and other material, called plaque, on their inner walls. This buildup is called atherosclerosis. As it grows, less blood can flow through the arteries. As a result, the heart muscle can't get the blood or oxygen it needs. This can lead to chest pain (angina) or a heart attack. Most heart attacks happen when a blood clot suddenly cuts off the hearts' blood supply, causing permanent heart damage. Over time, CAD can also weaken the heart muscle and contribute to heart failure and arrhythmias. Heart failure means the heart can't pump blood well to the rest of the body. Arrhythmias are changes in the normal beating rhythm of the heart. NIH: National Heart, Lung, and Blood Institute