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Gnathodiaphyseal dysplasia is caused by mutations in the ANO5 gene, which provides instructions for making a protein called anoctamin-5. While the specific function of this protein is not well understood, it belongs to a family of proteins, called anoctamins, that act as chloride channels. Studies suggest that most anoctamin channels are turned on (activated) in the presence of positively charged calcium atoms (calcium ions); these channels are known as calcium-activated chloride channels. The mechanism for this calcium activation is unclear. The ANO5 gene mutations that have been identified in people with gnathodiaphyseal dysplasia change single protein building blocks (amino acids) in the anoctamin-5 protein. It is unclear how these protein changes lead to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth.
Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition.
Wearing shoes and taking other protective measures to avoid skin contact with sand or soil will prevent infection with zoonotic hookworms. Travelers to tropical and subtropical climates, especially where beach exposures are likely, should be advised to wear shoes and use protective mats or other coverings to prevent direct skin contact with sand or soil. Routine veterinary care of dogs and cats, including regular deworming, will reduce environmental contamination with zoonotic hookworm eggs and larvae. Prompt disposal of animal feces prevents eggs from hatching and contaminating soil -- which makes it important for control of this parasitic infection.
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.
How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education services should be initiated as soon as possible so that each child can reach his fullest potential. GeneReviews provides a detailed list of management strategies.
HNSCC is caused by a variety of factors that can alter the DNA in cells. The strongest risk factors for developing this form of cancer are tobacco use (including smoking or using chewing tobacco) and heavy alcohol consumption. In addition, studies have shown that infection with certain strains of human papillomavirus (HPV) is linked to the development of HNSCC. HPV infection accounts for the increasing incidence of HNSCC in younger people. Researchers have identified mutations in many genes in people with HNSCC; however, it is not yet clear what role most of these mutations play in the development or progression of cancer. The proteins produced from several of the genes associated with HNSCC, including TP53, NOTCH1, and CDKN2A, function as tumor suppressors, which means they normally keep cells from growing and dividing too rapidly or in an uncontrolled way. When tumor suppressors are impaired, cells can grow and divide without control, leading to tumor formation. It is likely that a series of changes in multiple genes is involved in the development and progression of HNSCC.
These resources address the diagnosis or management of hand-foot-genital syndrome: - Gene Review: Gene Review: Hand-Foot-Genital Syndrome - Genetic Testing Registry: Hand foot uterus syndrome - MedlinePlus Encyclopedia: Hypospadias - MedlinePlus Encyclopedia: Urinary Tract Infection 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
Post-polio syndrome (PPS) is a condition that affects polio survivors many years after recovery from an initial attack of the poliomyelitis virus. PPS is characterized by a further weakening of muscles that were previously affected by the polio infection. The most common symptoms include slowly progressive muscle weakness, fatigue (both general and muscular), and a decrease in muscle size (muscular atrophy). Pain from joint deterioration and increasing skeletal deformities such as scoliosis are common. Some individuals experience only minor symptoms, while others develop more visible muscle weakness and atrophy. PPS is rarely life-threatening but the symptoms can interfere significantly with the individual's capacity to function independently. While polio is contagious, PPS is not transmissible. Only a polio survivor can develop PPS.
How is Charcot-Marie-Tooth disease type 2F inherited? Charcot-Marie-Tooth disease type 2F is inherited in an autosomal dominant manner. This means that only one mutated copy of the gene in each cell is sufficient to cause the condition. Most affected individuals inherit the mutated gene from an affected parent, but in some cases the mutation occurs for the first time in the affected individual (de novo mutation). When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and have the condition.
Norrie disease is a rare disorder; its exact incidence is unknown. It is not associated with any specific racial or ethnic group.
With treatment, muscle weakness may improve or be reversed.
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. An affected person usually inherits the altered gene from one affected parent. In rare cases, an individual with Huntington disease does not have a parent with the disorder. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size. A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats. Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington disease (36 repeats or more).
The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes 3, 10, or 13 in some families. Certain medications taken during pregnancy and abuse of drugs such as cocaine may also be risk factors for Moebius syndrome. Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII. These nerves, which emerge from the brainstem at the back of the brain, control back-and-forth eye movement and facial expressions. The disorder can also affect other cranial nerves that are important for speech, chewing, and swallowing. Abnormal development of cranial nerves leads to the facial muscle weakness or paralysis that is characteristic of Moebius syndrome. Researchers speculate that Moebius syndrome may result from changes in blood flow to the brainstem during early stages of embryonic development. However, it is unclear what causes these changes to occur and why they specifically disrupt the development of cranial nerves VI and VII. Even less is known about the causes of some other signs and symptoms of this condition, including hand and foot abnormalities.
How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected and can not be avoided. Additionally, affected people are often told to carry an epinephrine autoinjector due to the increased risk of anaphylaxis. Several other therapies have reportedly been used to treat cold urticaria with varying degrees of success. These include: Leukotriene antagonists Ciclosporin Systemic corticosteroids Dapsone Oral antibiotics Synthetic hormones Danazol
In adults, many of the symptoms diminish over time. Although it has been suggested that in children symptoms may diminish over time, it appears likely that most children probably do not overcome their deficits, but learn to adjust to them.
How might myoepithelial carcinoma be treated? The treatment for metastatic myoepithelial carcinoma usually begins with surgery to remove the main tumor. Radiation therapy can be used to reduce the chance that the tumor could return in the same location. Recent studies have shown that neutron-based radiation therapy may be more effective than proton-based radiation therapy for treating myoepithelial cancers. There is limited evidence about the usefulness of chemotherapy in treating metastatic myoepithelial cancer, and there are no standard treatment guidelines. However, there are three reports of individuals with metastatic myoepithelial cancer who responded to chemotherapy. In one individual, the metastatic tumors stopped growing during chemotherapy. In the other two individuals, there was no evidence of the metastatic tumors after 14 months for one person and after three years for the other person.
How might aspergillosis be treated? If the infection is widespread or the person appears seriously ill, treatment is started immediately. Voriconazole is currently first-line treatment for invasive aspergillosis and is usually given intravenously. There are other antifungal drugs that can be used to treat invasive aspergillosis in patients who cannot take voriconazole or who have not responded to voriconazole. These include itraconazole, lipid amphotericin formulations, caspofungin, micafungin, and posaconazole. Whenever possible, immunosuppressive medications should be discontinued or decreased. A fungus ball usually does not require treatment unless bleeding into the lung tissue is associated with the infection, then surgery is required. Antifungal agents do not help people with allergic aspergillosis. Allergic aspergillosis is treated with prednisone taken by mouth.
These resources address the diagnosis or management of spastic paraplegia type 31: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 31, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Mutations in many genes can cause congenital myasthenic syndrome. Mutations in the CHRNE gene are responsible for more than half of all cases. A large number of cases are also caused by mutations in the RAPSN, CHAT, COLQ, and DOK7 genes. All of these genes provide instructions for producing proteins that are involved in the normal function of the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement. Gene mutations lead to changes in proteins that play a role in the function of the neuromuscular junction and disrupt signaling between the ends of nerve cells and muscle cells. Disrupted signaling between these cells results in an impaired ability to move skeletal muscles, muscle weakness, and delayed development of motor skills. The respiratory problems in congenital myasthenic syndrome result from impaired movement of the muscles of the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm). Mutations in other genes that provide instructions for proteins involved in neuromuscular signaling have been found to cause some cases of congenital myasthenic syndrome, although these mutations account for only a small number of cases. Some people with congenital myasthenic syndrome do not have an identified mutation in any of the genes known to be associated with this condition.
Tests and procedures that examine the skin are used to detect (find) and diagnose Merkel cell carcinoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Full-body skin exam: A doctor or nurse checks the skin for bumps or spots that look abnormal in color, size, shape, or texture. The size, shape, and texture of the lymph nodes will also be checked. - Skin biopsy : The removal of skin cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer.
Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum. In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. In most people with steatocystoma multiplex, these cysts are the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.
In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. The condition is more common in people of northern European ancestry than in other ethnic groups.
The NINDS supports an extensive research program on stroke and conditions that can lead to stroke. Much of this research is aimed at finding ways to prevent and treat conditions such as cerebral arteriosclerosis.
Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain. These and other signs and symptoms may be caused by hypopharyngeal cancer or by other conditions. Check with your doctor if you have any of the following: - A sore throat that does not go away. - Ear pain. - A lump in the neck. - Painful or difficult swallowing. - A change in voice.
The exact prevalence of epidermolysis bullosa simplex is unknown, but this condition is estimated to affect 1 in 30,000 to 50,000 people. The localized type is the most common form of the condition.
Within the NINDS research programs, arachnoiditis is addressed primarily through studies associated with pain research. NINDS vigorously pursues a research program seeking new treatments for pain and nerve damage with the ultimate goal of reversing debilitating conditions such as arachnoiditis.
The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in 100,000 people worldwide.
Signs and symptoms of small intestine cancer include unexplained weight loss and abdominal pain. These and other signs and symptoms may be caused by small intestine cancer or by other conditions. Check with your doctor if you have any of the following: - Pain or cramps in the middle of the abdomen. - Weight loss with no known reason. - A lump in the abdomen. - Blood in the stool.
X-linked adrenoleukodystrophy 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 each cell. In males (who have only one X chromosome), one altered copy of the ABCD1 gene in each cell is sufficient to cause X-linked adrenoleukodystrophy. Because females have two copies of the X chromosome, one altered copy of the ABCD1 gene in each cell usually does not cause any features of X-linked adrenoleukodystrophy; however, some females with one altered copy of the gene have health problems associated with this disorder. The signs and symptoms of X-linked adrenoleukodystrophy tend to appear at a later age in females than in males. Affected women usually develop features of the adrenomyeloneuropathy type.
Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner.
What causes Von Hippel-Lindau disease? Von Hippel-Lindau (VHL) disease is caused by a mutation in the VHL gene. This gene is a tumor suppressor gene, which helps to control cell growth. Mutations in the VHL gene lead to a lack of regulation of cell growth and survival, allowing cells to grow and divide uncontrollably, forming the tumors that are associated with VHL disease.
Nonseminomatous germ cell tumors are cancerous tumors commonly found in the pineal gland in the brain, in the mediastinum, or in the abdomen. They originate from cells that were meant to form sex cells (i.e., sperm or eggs). They are often large and have a tendency to spread more quickly than the other type of germ cell tumor (i.e., seminoma type). Possible early signs of this cancer include chest pain and breathing problems.
How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outlook in these cases. However, surgery is typically less curative in tumors that are large, multifocal or extend outside the spinal cord. These tumors have the potential to regrow after the initial diagnosis and surgery (recur), particularly in individuals diagnosed as children. Following surgery, radiation therapy may be considered to destroy any cancer cells that could remain in the body. The use of chemotherapy as another treatment of myxopapillary ependymoma remains controversial; chemotherapy has been widely used in pediatric individuals due to more aggressive disease. The usefulness of additional therapies following surgery is unclear for the subset of individuals with recurrence or in individuals in whom total resection cannot be achieved.
What causes a 15q11.2 microdeletion? A 15q11.2 microdeletion may occur randomly for the first time in an affected person (a de novo mutation), or it may be inherited from a parent with the microdeletion. A blood test to look at the parents' chromosomes is needed to find out how the microdeletion occurred. When a 15q11.2 microdeletion occurs as a de novo mutation, it is due to a random error - either during the formation of a parent's egg or sperm cell, or very soon after conception (fertilization of the egg). A parent with the microdeletion has a 50% chance with each pregnancy to pass on the microdeletion. The features of 15q11.2 microdeletion occur because the deleted region of the chromosome contains several genes that are important for normal growth and development. It is not yet clear why there is a large range of features and severity among people with a 15q11.2 microdeletion, or why some people are unaffected.
SHORT syndrome results from mutations in the PIK3R1 gene. This gene provides instructions for making one part (subunit) of an enzyme called PI3K, which plays a role in chemical signaling within cells. PI3K signaling is important for many cell activities, including cell growth and division, movement (migration) of cells, production of new proteins, transport of materials within cells, and cell survival. Studies suggest that PI3K signaling may be involved in the regulation of several hormones, including insulin, which helps control blood sugar levels. PI3K signaling may also play a role in the maturation of fat cells (adipocytes). Mutations in the PIK3R1 gene alter the structure of the subunit, which reduces the ability of PI3K to participate in cell signaling. Researchers are working to determine how these changes lead to the specific features of SHORT syndrome. PI3K's role in insulin activity may be related to the development of insulin resistance and diabetes, and problems with adipocyte maturation might contribute to lipoatrophy in affected individuals. It is unclear how reduced PI3K signaling is associated with the other features of the condition.
Although Laing distal myopathy is thought to be rare, its prevalence is unknown. Several families with the condition have been identified worldwide.
Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by "floppy" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. This obstruction causes a noise which may sound like nasal congestion or may be a more high-pitched sound (stridor). Airway sounds typically begin at 4-6 weeks of age. Affected infants have a higher risk of gastroesophageal reflux, and in severe cases may have feeding problems. In rare cases, hypoxemia or hypoventilation may interfere with normal growth and development. The cause of this condition is unknown, but it is thought to be due to delayed maturation of the supporting structures of the larynx. In more than 90% of cases it gradually improves on its own, and noises disappear by age 2 in virtually all infants.
Summary : Your diet is made up of what you eat. A healthy diet - May include fruits, vegetables, whole grains, and fat-free or low-fat milk and milk products - May include lean meats, poultry, fish, beans, eggs and nuts - Goes easy on saturated fats, trans fat, cholesterol, salt (sodium), and added sugars There are many different types of diets. Some, like a vegetarian diet, don't include meats. Others, like the Mediterranean diet, describe a traditional way of eating of a specific region. And there are diets for people with certain health problems, such as diabetes and high blood pressure. Many people follow specific diets to lose weight. Some of these diets are fad or crash diets that severely restrict calories or the types of food you are allowed to eat. These diets rarely lead to permanent weight loss and often don't provide all of the nutrients your body needs. To lose weight, you need to use more calories than you eat. Portion control is the key. When trying to lose weight, you can still eat your favorite foods -- as long as you pay attention to the total number of calories that you eat. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Lowe syndrome is an uncommon condition. It has an estimated prevalence of 1 in 500,000 people.
As its name suggests, VLDLR-associated cerebellar hypoplasia results from mutations in the VLDLR gene. This gene provides instructions for making a protein called a very low density lipoprotein (VLDL) receptor. Starting before birth, this protein plays a critical role in guiding the movement of developing nerve cells to their appropriate locations in the brain. Mutations in the VLDLR gene prevent cells from producing any functional VLDL receptor protein. Without this protein, developing nerve cells cannot reach the parts of the brain where they are needed. The resulting problems with brain development lead to ataxia and the other major features of this condition.
Mutations in the NEU1 gene cause sialidosis. This gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within the cell that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules attached to certain proteins by removing a substance known as sialic acid. Mutations in the NEU1 gene lead to a shortage (deficiency) of the NEU1 enzyme. When this enzyme is lacking, sialic acid-containing compounds accumulate inside lysosomes. Conditions such as sialidosis that cause molecules to build up inside lysosomes are called lysosomal storage disorders. People with sialidosis type II have mutations that severely reduce or eliminate NEU1 enzyme activity. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. It is unclear exactly how the accumulation of large molecules within lysosomes leads to the signs and symptoms of sialidosis.
Tuberous sclerosis is a rare genetic disease that causes benign tumors to grow in the brain and other organs. Symptoms vary, depending on where the tumors grow. They could include - Skin problems, such as light patches and thickened skin - Seizures - Behavior problems - Intellectual disabilities - Kidney problems Some people have signs of tuberous sclerosis at birth. In others it can take time for the symptoms to develop. The disease can be mild, or it can cause severe disabilities. In rare cases, tumors in vital organs or other symptoms can be life-threatening. Tuberous sclerosis has no cure, but treatments can help symptoms. Options include medicines, educational and occupational therapy, surgery, or surgery to treat specific complications. NIH: National Institute of Neurological Disorders and Stroke
The ovaries are part of the female reproductive system. They produce a woman's eggs and female hormones. Each ovary is about the size and shape of an almond. Cancer of the ovary is not common, but it causes more deaths than other female reproductive cancers. The sooner ovarian cancer is found and treated, the better your chance for recovery. But ovarian cancer is hard to detect early. Women with ovarian cancer may have no symptoms or just mild symptoms until the disease is in an advanced stage. Then it is hard to treat. Symptoms may include - A heavy feeling in the pelvis - Pain in the lower abdomen - Bleeding from the vagina - Weight gain or loss - Abnormal periods - Unexplained back pain that gets worse - Gas, nausea, vomiting, or loss of appetite To diagnose ovarian cancer, doctors do one or more tests. They include a physical exam, a pelvic exam, lab tests, ultrasound, or a biopsy. Treatment is usually surgery followed by chemotherapy. NIH: National Cancer Institute
Merkel cell carcinoma usually appears as a single painless lump on sun-exposed skin. This and other changes in the skin may be caused by Merkel cell carcinoma or by other conditions. Check with your doctor if you see changes in your skin. Merkel cell carcinoma usually appears on sun-exposed skin as a single lump that is: - Fast-growing. - Painless. - Firm and dome-shaped or raised. - Red or violet in color.
Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. To ensure adequate nutrition and caloric intake, some infants may require special accommodations for diet and feeding. Seizures may be managed with standard anticonvulsant medications. Children should be monitored for evidence of glaucoma in the first few months of life, and later for evidence of scoliosis, diabetes, and underactive thyroid.The prognosis depends upon the severity of symptoms.
How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with FFI has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
The prognosis for individuals with orthostatic hypotension depends on the underlying cause of the condition.
These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter: - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter - Genetic Testing Registry: Leukoencephalopathy with vanishing white matter 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
Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with MCADD do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. MCADD is caused by mutations in the ACADM gene and is inherited in an autosomal recessive manner. Treatment includes avoidance of fasting and of medium chain triglycerides in the diet.
How might spinocerebellar ataxia 2 be treated? Treatment of spinocerebellar ataxia 2 (SCA2) is supportive and aims to help the affected person maintain their independence and avoid injury. It is recommended that people with SCA2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and avoid alcohol and medications that affect cerebellar function. Adaptive equipment may include canes or other devices to help with walking and mobility. People with SCA2 may develop difficulty speaking and may need to use computerized devices or writing pads to help with communication. Levodopa may be prescribed to help with some of the movement problems (e.g., rigidity and tremor), and magnesium may improve muscle cramping.
Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines have many critical functions within cells. Studies suggest that these molecules play roles in cell growth and division, the production of new proteins, the repair of damaged tissues, the function of molecules called ion channels, and the controlled self-destruction of cells (apoptosis). Polyamines appear to be necessary for normal development and function of the brain and other parts of the body. Mutations in the SMS gene greatly reduce or eliminate the activity of spermine synthase, which decreases the amount of spermine in cells. A shortage of this polyamine clearly impacts normal development, including the development of the brain, muscles, and bones, but it is unknown how it leads to the specific signs and symptoms of Snyder-Robinson syndrome.
Cardiofaciocutaneous syndrome is a very rare condition whose incidence is unknown. Researchers estimate that 200 to 300 people worldwide have this condition.
What are the signs and symptoms of Hyperlipidemia type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperlipidemia type 3. 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) Abnormal glucose tolerance - Angina pectoris - Hypercholesterolemia - Hypertriglyceridemia - Obesity - Peripheral arterial disease - Xanthomatosis - 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.
Chromosome 3p- syndrome is a rare chromosome abnormality that occurs when there is a missing copy of the genetic material located towards the end of the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the exact size and location of the deletion and which genes are involved. Some affected people appear to have no features or mild features, while others are more severely affected. Common symptoms shared by many people with this deletion include poor growth, developmental delay, intellectual disability, distinctive facial features, autism spectrum disorder, an unusually small head (microcephaly), and poor muscle tone (hypotonia). Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
These resources address the diagnosis or management of chylomicron retention disease: - Genetic Testing Registry: Chylomicron retention disease - MedlinePlus Encyclopedia: Malabsorption 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
LCH is a rare condition, although its prevalence is unknown.
CJD does not cause the same symptoms in everyone. In most people who got CJD from pituitary hGH, the first signs they noticed were difficulty with walking and balance, dizziness, and/or clumsiness. Later, some began to slur words and have jerky movements. They also had trouble seeing, remembering, and/or thinking clearly. The disease becomes worse very quickly. When individuals have symptoms like these over a long period of time (such as a year) without getting much worse, they do not have CJD. Occasional forgetfulness, clumsiness, or headaches do not mean one has CJD. You should discuss concerns with your doctor if you are not sure. CJD is a rare disease. Most cases of CJD are not linked to pituitary hGH. When CJD is not linked to pituitary hGH, the first symptoms are usually mental changes such as confusion, problems thinking clearly, memory loss, behavior changes, and dementia. Though symptoms may differ, there are similar changes in the brain tissue of all patients with CJD.
The urinary tract is the body's drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quarts of urine a person produces each day. The urine travels from the kidneys down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder and emptied through the urethra, a tube at the bottom of the bladder. When the bladder empties, a muscle called the sphincter relaxes and urine flows out of the body through the urethra. The opening of the urethra is at the end of the penis in males and in front of the vagina in females.
Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in 150,000 individuals. For unknown reasons, this condition affects more males than females.
Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. This enzyme plays a role in the breakdown of complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) and fats (glycolipids). Alpha-L-fucosidase is responsible for cutting (cleaving) off a sugar molecule called fucose toward the end of the breakdown process. FUCA1 gene mutations severely reduce or eliminate the activity of the alpha-L-fucosidase enzyme. A lack of enzyme activity results in an incomplete breakdown of glycolipids and glycoproteins. These partially broken down compounds gradually accumulate within various cells and tissues throughout the body and cause cells to malfunction. Brain cells are particularly sensitive to the buildup of glycolipids and glycoproteins, which can result in cell death. Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. Accumulation of glycolipids and glycoproteins also occurs in other organs such as the liver, spleen, skin, heart, pancreas, and kidneys, contributing to the additional symptoms of fucosidosis.
Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function.
Most desmoid tumors are sporadic and are not inherited. Sporadic tumors result from gene mutations that occur during a person's lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations in either the CTNNB1 or the APC gene can cause sporadic desmoid tumors. An inherited mutation in one copy of the APC gene causes familial adenomatous polyposis and predisposes affected individuals to develop desmoid tumors. The desmoid tumors occur when a somatic mutation occurs in the second copy of the APC gene. In these cases, the condition is sometimes called hereditary desmoid disease.
These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18 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
Prediabetes means your blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. In 2012, about 86 million people in the U.S. had prediabetes, and 51% of those 65 or older had prediabetes. People with prediabetes are at an increased risk for developing type 2 diabetes and for heart disease and stroke. The good news is that if you have prediabetes, you can reduce your risk of getting type 2 diabetes. With modest weight loss and moderate physical activity, you can delay or prevent type 2 diabetes. Learn more about prediabetes here.
How might Bartter syndrome be treated? Treatment of Bartter syndrome depends on the type of the syndrome that the affected individual has, but it primarily focuses on preventing the loss of too much of potassium from the body. This may include oral potassium (K) supplements, medication such as indomethacin, and potassium-sparing diuretics. In high-stress situations such as illness or trauma, blood electrolyte levels can change rapidly, which may require immediate intravenous treatment. Genetic counseling may benefit affected individuals and their families. eMedicine has an article containing additional, thorough information about the management and treatment of Bartter syndrome. Click here to view this information.
Lysinuric protein intolerance is estimated to occur in 1 in 60,000 newborns in Finland and 1 in 57,000 newborns in Japan. Outside these populations this condition occurs less frequently, but the exact incidence is unknown.
How might pigmented villonodular synovitis be treated? Pigmented villonodular synovitis is first treated with surgery to remove as much of the abnormal tissue growth as possible. The type of surgery depends on the location and extent of the disease within the joint. Radiation therapy is sometimes used to treat this condition if surgery is not an option, or if the condition returns (recurs) after an initial surgery.
Ligneous conjunctivitis is a rare disorder characterized by the buildup of a protein called fibrin which causes inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody (ligneous), inflamed growths that are yellow, white, or red. Ligneous conjunctivitis most often occurs on the inside of the eyelids, but may also affect the sclera, cornea and pupil, leading to vision loss. A systemic form of the condition may occur, affecting the mucous membranes of the larynx, vocal chords, nose, trachea, bronchi, vagina, cervix, and gingiva. The cause of ligneous conjunctivitis is unknown. Autosomal recessive inheritance has been suggested in some cases. Ligneous conjunctivitis is sometimes associated with a condition known as congenital plasminogen deficiency.
The National Eye Institute, or NEI, is conducting and supporting research that seeks better ways to detect, treat, and prevent vision loss in people with diabetes. This research is conducted through studies in the laboratory and with patients. For example, researchers are studying drugs for the treatment of proliferative retinopathy that may reduce the need for laser surgery.
In the United States, about 140,000 new cases of colorectal cancer are diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by Lynch syndrome.
What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. 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) Insomnia 90% Visual impairment 90% Anorexia 50% Incoordination 50% Memory impairment 50% 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.
Acquired hemophilia A is a bleeding disorder that interferes with the body's blood clotting process. Although the condition can affect people of all ages, it generally occurs in older people (the median age of diagnosis is between 60 and 67 years). Signs and symptoms include prolonged bleeding, frequent nosebleeds, bruising throughout the body, solid swellings of congealed blood (hematomas), hematuria, and gastrointestinal or urologic bleeding. Acquired hemophilia A occurs when the body's immune system attacks and disables a certain protein that helps the blood clot (called coagulation factor VIII). About half of the cases are associated with other conditions, such as pregnancy, autoimmune disease, cancer, skin diseases, or allergic reactions to medications. Treatment is aimed at controlling bleeding episodes and addressing the underlying cause of the condition.
How might pantothenate kinase-associated neurodegeneration (PKAN) be treated? Currently there is no cure for this condition. Treatment consists of medications and surgery to relieve symptoms. For many of the treatments that do improve symptoms, the period of benefit is limited. Baclofen and trihexyphenidyl remain the most effective drugs for the dystonia and spasticity associated with this condition. Botulinum toxin may be helpful for many affected individuals, especially in treating a limited body region. For example, injections in the facial muscles can greatly improve speech and eating abilities. Those with PKAN typically do not benefit from L-dopa. Deep brain stimulation (DBS) is also an option for relieving some symptoms; an international study of the effectiveness of DBS is currently underway. Recently, interest in chelating agents (agents that remove iron from the body) has also been revived, although the benefits have not yet been documented and systemic anemia remains a risk. A trial using deferriprone (a chelator) in PKAN is currently underway in Italy. Click on the link to learn more about this study.
What are the signs and symptoms of intravenous leiomyomatosis? IVL most often does not cause detectable signs or symptoms. In fact, they may be found by chance during surgery. When symptoms do arise, they can include abnormal uterine bleeding, lower abdominal tenderness, ad venous thrombosis. When IVL in the uterus is exposed to venous blood that flows to the heart, it usually grows slowly and may reach the heart undetected. When IVL reaches the heart, it can result in pulmonary embolisms, cardiac failure, fainting, and in some cases, sudden death. Most people do not experience symptoms until the IVL reaches the heart.
Is Wolff-Parkinson-White syndrome inherited?
Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. Amyloid proteins are abnormal proteins that the body cannot break down and recycle, as it does with normal proteins. When amyloid proteins clump together, they form amyloid deposits. The buildup of these deposits damages a persons organs and tissues. Amyloidosis can affect different organs and tissues in different people and can affect more than one organ at the same time. Amyloidosis most frequently affects the kidneys, heart, nervous system, liver, and digestive tract. The symptoms and severity of amyloidosis depend on the organs and tissues affected.
Meningococci are a type of bacteria that cause serious infections. The most common infection is meningitis, which is an inflammation of the thin tissue that surrounds the brain and spinal cord. Meningococci can also cause other problems, including a serious bloodstream infection called sepsis. Meningococcal infections can spread from person to person. Risk factors include - Age - it is more common in infants, teens, and young adults - Living in close quarters, such as in college dorms or military settings - Certain medical conditions, such as not having a spleen - Travel to areas where meningococcal disease is common In its early stages, you may have flu-like symptoms and a stiff neck. But the disease can progress quickly and can be fatal. Early diagnosis and treatment are extremely important. Lab tests on your blood and cerebrospinal fluid can tell if you have it. Treatment is with antibiotics. Since the infection spreads from person to person, family members may also need to be treated. A vaccine can prevent meningococcal infections.
Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret. People with congenital leptin deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).
Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive. Mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. This deficiency occurs as a result of inherited mutations in the MVK gene. This condition is inherited in an autosomal recessive pattern. Treatment is challenging and remains mainly supportive. The less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia D syndrome (HIDS).
In most cases of BEB the treatment of choice is botulinum toxin injections which relax the muscles and stop the spasms. Other treatment options include medications (drug therapy) or surgery--either local surgery of the eye muscles or deep brain stimulation surgery.
Factor V deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). This disorder is caused by the deficiency of a blood protein called factor V. The reduced amount of factor V leads to episodes of abnormal bleeding that range from mild to severe. Factor V deficiency is inherited in an autosomal recessive manner, which means that both copies of the F5 gene in each cell have mutations.
Eat a high-fiber diet to help prevent problems. Talk to your doctor about using fiber products like Benefiber, Citrucel, or Metamucil. Daily use can help you get the fiber you need if you do not get it through your diet. Ask your doctor about which food choices are right for you. Eating foods high in fiber is simple and can help reduce diverticular disease symptoms and problems. Try eating more of the following: - Fruit. Raw apples, peaches, pears, and tangerines. - Vegetables. Fresh broccoli, squash, carrots, and brussels sprouts. - Starchy vegetables. Potatoes, baked beans, kidney beans, and lima beans. - Grains. Whole-wheat bread, brown rice, bran flake cereal, and oatmeal. Talk with your doctor about making diet changes. Learn what to eat and how to put more of these high-fiber foods in your diet.
Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy.
Summary : People in the U.S. are living longer than ever before. Many seniors live active and healthy lives. But there's no getting around one thing: as we age, our bodies and minds change. There are things you can do to stay healthy and active as you age: - Eat a balanced diet - Keep your mind and body active - Don't smoke - Get regular checkups - Practice safety habits to avoid accidents and prevent falls NIH: National Institute on Aging
Dravet syndrome is a severe form of epilepsy. The condition appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15 percent to 25 percent of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others. In 30 to 80 percent of cases, Dravet syndrome is caused by changes in the SCN1A gene, which is required for the proper function of brain cells.
These resources address the diagnosis or management of Amish lethal microcephaly: - Gene Review: Gene Review: Amish Lethal Microcephaly - Genetic Testing Registry: Amish lethal microcephaly - MedlinePlus Encyclopedia: Microcephaly 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
Metaplastic carcinoma of the breast is a rare form of breast cancer. The tumor cells differ in type from that of the typical ductal or lobular breast cancers. The cells look like skin cells or cells that make bone. Some women experience no early signs or symptoms, while others experience general symptoms of breast cancers, such as new breast lumps. Treatment of metaplastic carcinoma of the breast is similar to that of invasive ductal cancer.
How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. 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 show 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 have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress: - Routine stress related to the pressures of work, family, and other daily responsibilities - Stress brought about by a sudden negative change, such as losing a job, divorce, or illness - Traumatic stress, which happens when you are in danger of being seriously hurt or killed. Examples include a major accident, war, assault, or a natural disaster. This type of stress can cause post-traumatic stress disorder (PTSD). Different people may feel stress in different ways. Some people experience digestive symptoms. Others may have headaches, sleeplessness, depressed mood, anger, and irritability. People under chronic stress get more frequent and severe viral infections, such as the flu or common cold. Vaccines, such as the flu shot, are less effective for them. Some people cope with stress more effectively than others. It's important to know your limits when it comes to stress, so you can avoid more serious health effects. NIH: National Institute of Mental Health
Simple kidney cysts usually do not cause symptoms or harm the kidneys. In some cases, however, pain can occur between the ribs and hips when cysts enlarge and press on other organs. Sometimes cysts become infected, causing fever, pain, and tenderness. Simple kidney cysts are not thought to affect kidney function, but one study found an association between the presence of cysts and reduced kidney function in hospitalized people younger than 60 years of age.1 Some studies have found a relationship between simple kidney cysts and high blood pressure. For example, high blood pressure has improved in some people after a large cyst was drained. However, this relationship is not well understood.2
What are the signs and symptoms of Sudden infant death syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sudden infant death syndrome. 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) Apneic episodes in infancy - Sudden death - 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.
Muckle-Wells syndrome is a rare disorder. It has been reported in many regions of the world, but its prevalence is unknown.
The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals who have the X-linked form of Leighs disease, a high-fat, low-carbohydrate diet may be recommended.
Mutations in the ADAMTS13 gene cause the familial form of thrombotic thrombocytopenic purpura. The ADAMTS13 gene provides instructions for making an enzyme that is involved in the normal process of blood clotting. Mutations in this gene lead to a severe reduction in the activity of this enzyme. The acquired form of thrombotic thrombocytopenic purpura also results from a reduction in ADAMTS13 enzyme activity; however, people with the acquired form do not have mutations in the ADAMTS13 gene. Instead, their immune systems often produce specific proteins called autoantibodies that block the activity of the enzyme. A lack of ADAMTS13 enzyme activity disrupts the usual balance between bleeding and clotting. Normally, blood clots form at the site of an injury to seal off damaged blood vessels and prevent excess blood loss. In people with thrombotic thrombocytopenic purpura, clots form throughout the body as platelets bind together abnormally and stick to the walls of blood vessels. These clots can block small blood vessels, causing organ damage and the other features of thrombotic thrombocytopenic purpura. Researchers believe that other genetic or environmental factors may contribute to the signs and symptoms of thrombotic thrombocytopenic purpura. In people with reduced ADAMTS13 enzyme activity, factors such as pregnancy, surgery, and infection may trigger abnormal blood clotting and its associated complications.
What causes Omenn syndrome? Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in the absence of RAG mutations. Omenn syndrome caused by mutations in ARTEMIS, ADA, ILRA2, ILRA7, CHD7, and DNA ligase 4 have been described in the medical literature. Some cases of Omenn syndrome have also been found in association with 22q11 microdeletion syndrome.
Latex is a milky fluid that comes from the tropical rubber tree. Hundreds of everyday products contain latex. Repeated exposure to a protein in natural latex can make you more likely to develop a latex allergy. If your immune system detects the protein, a reaction can start in minutes. You could get a rash or asthma. In rare cases you could have a severe reaction called anaphylaxis. Your doctor may use a physical exam and skin and blood tests to diagnose it. There are medicines to treat a reaction, but it is best to try to avoid latex. Common latex products include - Gloves - Condoms - Balloons - Rubber bands - Shoe soles - Pacifiers You can find latex-free versions of these products.
The uterus, or womb, is the place where a baby grows when a woman is pregnant. If you have an ectopic pregnancy, the fertilized egg grows in the wrong place, outside the uterus, usually in the fallopian tubes. The result is usually a miscarriage. Ectopic pregnancy can be a medical emergency if it ruptures. Signs of ectopic pregnancy include - Abdominal pain - Shoulder pain - Vaginal bleeding - Feeling dizzy or faint Get medical care right away if you have these signs. Doctors use drugs or surgery to remove the ectopic tissue so it doesn't damage your organs. Many women who have had ectopic pregnancies go on to have healthy pregnancies later. Dept. of Health and Human Services Office on Women's Health
Alpha-1 antitrypsin deficiency (AAT deficiency) is an inherited condition that raises your risk for lung and liver disease. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver makes it. If the AAT proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs. Symptoms of AAT deficiency include - Shortness of breath and wheezing - Repeated lung infections - Tiredness - Rapid heartbeat upon standing - Vision problems - Weight loss Some people have no symptoms and do not develop complications. Blood tests and genetic tests can tell if you have it. If your lungs are affected, you may also have lung tests. Treatments include medicines, pulmonary rehab, and extra oxygen, if needed. Severe cases may need a lung transplant. Not smoking can prevent or delay lung symptoms. NIH: National Heart, Lung, and Blood Institute
The exact incidence of Moebius syndrome is unknown. Researchers estimate that the condition affects 1 in 50,000 to 1 in 500,000 newborns.

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