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These resources address the diagnosis or management of sick sinus syndrome: - Cleveland Clinic: Management of Arrhythmias - Genetic Testing Registry: Sick sinus syndrome 1, autosomal recessive - Genetic Testing Registry: Sick sinus syndrome 2, autosomal dominant - Genetic Testing Registry: Sick sinus syndrome 3, susceptibility to - National Heart Lung and Blood Institute: What Is a Pacemaker? 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 Leber hereditary optic neuropathy: - Gene Review: Gene Review: Leber Hereditary Optic Neuropathy - Gene Review: Gene Review: Mitochondrial Disorders Overview - Genetic Testing Registry: Leber's optic atrophy - MedlinePlus Encyclopedia: Blindness - MedlinePlus Encyclopedia: Blindness - Resources 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 is Mowat-Wilson inherited? Mowat-Wilson syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of Mowat-Wilson syndrome result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 men. It is most common in North Africa, where it accounts for approximately 1 in 100 cases of male infertility.
Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. Prognosis is worst in the minority of children who have both sides of the brain affected by the blood vessel abnormalities.
An inguinal hernia happens when contents of the abdomenusually fat or part of the small intestinebulge through a weak area in the lower abdominal wall. The abdomen is the area between the chest and the hips. The area of the lower abdominal wall is also called the inguinal or groin region. Two types of inguinal hernias are - indirect inguinal hernias, which are caused by a defect in the abdominal wall that is congenital, or present at birth - direct inguinal hernias, which usually occur only in male adults and are caused by a weakness in the muscles of the abdominal wall that develops over time Inguinal hernias occur at the inguinal canal in the groin region.
Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis). In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition). Even with nutritional supplementation, most children with microvillus inclusion disease do not survive beyond childhood. A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.
An ectopic kidney may not cause any symptoms and may function normally, even though it is not in its usual position. Many people have an ectopic kidney and do not discover it until they have tests done for other reasons. Sometimes, a health care provider may discover an ectopic kidney after feeling a lump in the abdomen during an examination. In other cases, an ectopic kidney may cause abdominal pain or urinary problems.
There is no reason for those diagnosed with early stage AMD to take the AREDS formulation. The study did not find that the formulation helped those with early stage AMD. If you have early stage AMD, a comprehensive dilated eye exam every year can help determine if the disease is progressing. If early stage AMD progresses to the intermediate stage, discuss taking the formulation with your doctor.
Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer in which the cancer cells block the lymph vessels in the skin of the breast. This type of breast cancer is called inflammatory because the breast often looks swollen and red, or inflamed. The skin may also look dimpled like the skin of an orange. IBC can be difficult to diagnose because there is no lump to feel or detect on a mammogram. It is crucial to identify IBC right away because early diagnosis and treatment can greatly improve the outcome. Patients are often given a combination of treatments, including chemotherapy, surgery, and radiation therapy. Approximately one-third of individuals diagnosed with IBC will become long-term survivors. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Some studies have shown an association between family history of breast cancer and IBC, but more studies are needed to draw firm conclusions.
What causes X-linked dominant scapuloperoneal myopathy? X-linked dominant scapuloperoneal myopathy is caused by mutations in the FHL1 gene. The FHL1 gene is located on chromosome Xq26. This gene may be involved in muscle development or hypertrophy.
The most common symptoms of gastroparesis are nausea, a feeling of fullness after eating only a small amount of food, and vomiting undigested foodsometimes several hours after a meal. Other symptoms of gastroparesis include - gastroesophageal reflux (GER), also called acid reflux or acid regurgitationa condition in which stomach contents flow back up into the esophagus, the organ that connects the mouth to the stomach - pain in the stomach area - abdominal bloating - lack of appetite Symptoms may be aggravated by eating greasy or rich foods, large quantities of foods with fibersuch as raw fruits and vegetablesor drinking beverages high in fat or carbonation. Symptoms may be mild or severe, and they can occur frequently in some people and less often in others. The symptoms of gastroparesis may also vary in intensity over time in the same individual. Sometimes gastroparesis is difficult to diagnose because people experience a range of symptoms similar to those of other diseases.
Is Lafora disease inherited? Lafora disease is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. 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.
Once cancer has been found, the doctor will need to determine the extent, or stage, of the cancer. Through staging, the doctor can tell if the cancer has spread and, if so, to what parts of the body. More tests may be performed to help determine the stage. Knowing the stage of the disease helps you and the doctor plan treatment. Staging will let the doctor know - the size of the tumor and exactly where it is - if the cancer has spread from the original tumor site - if cancer is present in nearby lymph nodes - if cancer is present in other parts of the body. the size of the tumor and exactly where it is if the cancer has spread from the original tumor site if cancer is present in nearby lymph nodes if cancer is present in other parts of the body. The choice of treatment is based on many factors, including the size of the tumor, its location in the layers of the skin, and whether it has spread to other parts of the body. For stage 0, I, II or III cancers, the main goals are to treat the cancer and reduce the risk of it returning. For stage IV cancer, the goal is to improve symptoms and prolong survival.
What causes primary melanoma of the central nervous system? Although the exact cause of this condition is unknown, researchers have identified somatic mutations in the the GNAQ gene in 7 of 19 patients (37 percent) with primary malignant melanocytic tumors of the central nervous system. Somatic mutations are not inherited but occur during a person's lifetime. This mutation makes the Gnaq protein constantly active. The same mutation has been identified in approximately half of patients with intraocular melanoma.
What are the signs and symptoms of Succinic acidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Succinic acidemia. 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 recessive inheritance - Lactic acidosis - Respiratory distress - 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.
About 60,000 Americans are diagnosed with Parkinson's disease each year. The disease strikes about 50 percent more men than women. The average age of onset is 60 years, and the risk of developing the disease increases with age. Parkinson's disease is also more common in developed countries, possibly because of increased exposure to pesticides or other environmental toxins.
Small cell lung cancer spreads quickly. In many cases, cancer cells have already spread to other parts of the body when the disease is diagnosed, so chemotherapy is usually the best choice. See more on treatments for small cell lung cancer.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, a person with Andersen-Tawil syndrome inherits the mutation from one affected parent. Other cases result from new mutations in the KCNJ2 gene. These cases occur in people with no history of the disorder in their family.
The anus is the opening of the rectum through which stool passes out of your body. Problems with the anus are common. They include hemorrhoids, abscesses, fissures (cracks), and cancer. You may be embarrassed to talk about your anal troubles. But it is important to let your doctor know, especially if you have pain or bleeding. The more details you can give about your problem, the better your doctor will be able to help you. Treatments vary depending on the particular problem. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that is caused by abnormalities in the structure, production, and/or processing of collagen. There are 6 major forms of EDS: hypermobility type, classic type, vascular type, kyphoscoliosis type, arthrochalasia type, and dermatosparaxis type. Although other forms of the condition exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Changes (mutations) in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
What are the signs and symptoms of Transient erythroblastopenia of childhood? The Human Phenotype Ontology provides the following list of signs and symptoms for Transient erythroblastopenia of 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 recessive inheritance - Transient erythroblastopenia - 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 mucolipidosis III gamma: - Gene Review: Gene Review: Mucolipidosis III Gamma - Genetic Testing Registry: Mucolipidosis III Gamma - MedlinePlus Encyclopedia: Cloudy Cornea - MedlinePlus Encyclopedia: Heart Valves 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