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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.
How is Madelung disease diagnosed? Madelung disease is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies - computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of Madelung disease, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis.
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults and the amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder.
Hereditary sensory neuropathy type IA is a rare condition; its prevalence is estimated to be 1 to 2 per 100,000 individuals.
What causes leukoencephalopathy with vanishing white matter? Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. This protein helps regulate overall production of protein in cells (protein synthesis). Proper regulation of protein synthesis ensures that the correct levels of protein are available for cells to cope with changing conditions and stress. Mutations in any of these 5 genes results in partial loss of eIF2B function, making it more difficult for cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter may be particularly affected by an abnormal response to stress, thus causing the signs and symptoms of this condition. Approximately 90% of affected people have been found to have mutations in one of these 5 genes. Approximately 10% of families who have been diagnosed by MRI and clinical features do not have an identifiable mutation, suggesting that additional genes may also be responsible for the condition.
How is MECP2 duplication syndrome diagnosed? A diagnosis of MECP2 duplication syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis.
Hepatitis* B is a virus, or infection, that causes liver disease and inflammation of the liver. Viruses can cause sickness. For example, the flu is caused by a virus. People can pass viruses to each other. Inflammation is swelling that occurs when tissues of the body become injured or infected. Inflammation can cause organs to not work properly.
NINDS supports and conducts research on neurobehavioral disorders such as Klver-Bucy syndrome. Much of the research focuses on learning more about these disorders and finding ways to prevent and treat them.
The chronic inflammatory myopathies cant be cured in most adults but many of the symptoms can be treated. Options include medication, physical therapy, exercise, heat therapy (including microwave and ultrasound), orthotics and assistive devices, and rest. Polymyositis and dermatomyositis are first treated with high doses of prednisone or another corticosteroid drug. This is most often given as an oral medication but can be delivered intravenously. Immunosuppressant drugs, such as azathioprine and methotrexate, may reduce inflammation in people who do not respond well to prednisone. IBM has no standard course of treatment. The disease is generally unresponsive to corticosteroids and immunosuppressive drugs.
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern.
These resources address the diagnosis or management of familial cold autoinflammatory syndrome: - Genetic Testing Registry: Familial cold autoinflammatory syndrome 2 - Genetic Testing Registry: Familial cold urticaria 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
Summary : If you have coronary artery disease, the arteries in your heart are narrowed or blocked by a sticky material called plaque. Angioplasty is a procedure to restore blood flow through the artery. You have angioplasty in a hospital. The doctor threads a thin tube through a blood vessel in the arm or groin up to the involved site in the artery. The tube has a tiny balloon on the end. When the tube is in place, the doctor inflates the balloon to push the plaque outward against the wall of the artery. This widens the artery and restores blood flow. Doctors may use angioplasty to - Reduce chest pain caused by reduced blood flow to the heart - Minimize damage to heart muscle from a heart attack Many people go home the day after angioplasty, and are able to return to work within a week of coming home. NIH: National Heart, Lung, and Blood Institute
This condition is inherited in an X-linked dominant 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. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males (who have one X chromosome in each cell) experience more severe signs and symptoms of the disorder than females (who have two X chromosomes in each cell). A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Between 70 percent and 80 percent of people with Coffin-Lowry syndrome have no history of the condition in their families. These cases are caused by new mutations in the RPS6KA3 gene. The remaining 20 percent to 30 percent of affected individuals have other family members with Coffin-Lowry syndrome.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
This condition is 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.
The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating. Inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. And we do not know what causes some brain diseases, such as Alzheimer's disease. The symptoms of brain diseases vary widely depending on the specific problem. In some cases, damage is permanent. In other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms.
How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or "inflammatory exudate"). If these clusters are located on the pars plana, they are known as snowbanks. Snowbanks are considered a "hallmark" sign of pars planitis. It is often recommended that people over age 25 with pars planitis have an MRI of their brain and spine to rule out multiple sclerosis.
Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.
How is medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) diagnosed? MCADD is now included in many newborn screening programs. If a newborn screening result for MCADD is not in the normal range, additional testing is recommended. A diagnosis of MCADD can be made through a blood test called a plasma acylcarnitine profile and an evaluation of organic acids in the urine. The diagnosis can also be confirmed by genetic testing.
Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have been reported in the medical literature. Most affected individuals have been from the Middle East and India.
Guanidinoacetate methyltransferase deficiency is an inherited condition that affects the brain and muscles. Affected people may begin showing symptoms of the condition from early infancy to age three. Signs and symptoms can vary but may include mild to severe intellectual disability, epilepsy, speech development limited to a few words, behavioral problems (i.e. hyperactivity, autistic behaviors, self-mutilation), and involuntary movements. Guanidinoacetate methyltransferase deficiency is caused by changes (mutations) in the GAMT gene and is inherited in an autosomal recessive manner. Treatment aims to increase the levels of creatine in the brain through supplementation with high doses of oral creatine monohydrate.
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 is Gerstmann-Straussler-Scheinker disease inherited? Gerstmann-Straussler-Scheinker disease (GSS) 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 GSS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
These resources address the diagnosis or management of Down syndrome: - GeneFacts: Down Syndrome: Diagnosis - GeneFacts: Down Syndrome: Management - Genetic Testing Registry: Complete trisomy 21 syndrome - National Down Syndrome Congress: Health Care - National Down Syndrome Congress: Speech and Language - National Down Syndrome Society: Health Care - National Down Syndrome Society: Therapies and Development 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 mitochondrial membrane protein-associated neurodegeneration: - Gene Review: Gene Review: Mitochondrial Membrane Protein-Associated Neurodegeneration - Gene Review: Gene Review: Neurodegeneration with Brain Iron Accumulation Disorders Overview - Genetic Testing Registry: Neurodegeneration with brain iron accumulation 4 - Spastic Paraplegia Foundation: 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
Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form is called HbH disease. Hb Bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. Most babies with this condition are stillborn or die soon after birth. HbH disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. Alpha-thalassemia typically results from deletions involving the HBA1 and HBA2 genes. The inheritance is complex, and can be read about here. No treatment is effective for Hb Bart syndrome. For HbH disease, occasional red blood cell transfusions may be needed.
What are the signs and symptoms of Melanoma astrocytoma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Melanoma astrocytoma 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) Medulloblastoma 50% Meningioma 50% Astrocytoma - Autosomal dominant inheritance - Cutaneous melanoma - 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.
Usually, the first sign of sudden cardiac arrest (SCA) is loss of consciousness (fainting). At the same time, no heartbeat (or pulse) can be felt. Some people may have a racing heartbeat or feel dizzy or light-headed just before they faint. Within an hour before SCA, some people have chest pain, shortness of breath, nausea (feeling sick to the stomach), or vomiting.
Cold-induced sweating syndrome is a rare condition; its prevalence is unknown. The condition was first identified in the Sardinian population, but it has since been reported in regions worldwide.
There is no cure for LEMS. Treatment is directed at decreasing the autoimmune response (through the use of steroids, plasmapheresis, or high-dose intravenous immunoglobulin) or improving the transmission of the disrupted electrical impulses by giving drugs such as di-amino pyridine or pyridostigmine bromide (Mestinon). For patients with small cell lung cancer, treatment of the cancer is the first priority.
Sjgren's Syndrome Clinic National Institute of Dental and Craniofacial Research Building 10, Room 1N113 10 Center Drive MSC 1190 Bethesda, MD 20892-1190 301-435-8528 http://www.nidcr.nih.gov/Research/NIDCRLaboratories/ MolecularPhysiology/SjogrensSyndrome/default.htm
Treatment for VHL varies according to the location and size of the tumor. In general, the objective of treatment is to treat the tumors before they grow to a size large enough to cause permanent problems by putting pressure on the brain or spinal cord. this pressure can block the flow of cerebrospinal fluid in the nervous system, impair vision, or create deafness. Treatment of most cases of VHL usually involves surgery to remove the tumors before they become harmful. Certain tumors can be treated with focused high-dose irradiation. Individuals with VHL need careful monitoring by a physician and/or medical team familiar with the disorder.
What causes juvenile retinoschisis? Mutations in the RS1 gene cause most cases of juvenile retinoschisis. The RS1 gene provides instructions for producing a protein called retinoschisin, which is found in the retina. Studies suggest that retinoschisin plays a role in the development and maintenance of the retina, perhaps playing a role in cell adhesion (the attachment of cells together). RS1 gene mutations lead to a reduced amount or complete absence of retinoschisin, which can cause tiny splits (schisis) or tears to form in the retina. This damage often forms a "spoke-wheel" pattern in the macula, which can be seen during an eye examination. In about half of individuals, these abnormalities are seen in the area of the macula, affecting visual acuity. In the other half, the sides of the retina are affected, resulting in impaired peripheral vision. Some individuals with juvenile retinoschisis do not have a mutation in the RS1 gene. In these individuals, the cause of the disorder is unknown.
Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. This syndrome is nearly always sporadic. It tends to occur on the right side and is more common in boys than girls. Treatment typically involves surgical correction of the chest wall deformities.
The FH gene provides instructions for making an enzyme called fumarase (also known as fumarate hydratase). Fumarase participates in an important series of reactions known as the citric acid cycle or Krebs cycle, which allows cells to use oxygen and generate energy. Specifically, fumarase helps convert a molecule called fumarate to a molecule called malate. Mutations in the FH gene disrupt the enzyme's ability to help convert fumarate to malate, interfering with the function of this reaction in the citric acid cycle. Impairment of the process that generates energy for cells is particularly harmful to cells in the developing brain, and this impairment results in the signs and symptoms of fumarase deficiency.
What causes nonalcoholic steatohepatitis? The underlying cause of NASH remains unclear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes. However, not every obese person or every patient with diabetes has NASH. Furthermore, some patients with NASH are not obese, do not have diabetes, and have normal blood cholesterol and lipids. NASH can occur without any apparent risk factor and can even occur in children. While the underlying reason for the liver injury that causes NASH is not known, several factors are possible candidates: insulin resistance release of toxic inflammatory proteins by fat cells (cytokines) oxidative stress (deterioration of cells) inside liver cells
These resources address the diagnosis or management of pyruvate dehydrogenase deficiency: - Genetic Testing Registry: Pyruvate dehydrogenase E1-beta deficiency - Genetic Testing Registry: Pyruvate dehydrogenase E2 deficiency - Genetic Testing Registry: Pyruvate dehydrogenase E3-binding protein deficiency - Genetic Testing Registry: Pyruvate dehydrogenase complex deficiency - Genetic Testing Registry: Pyruvate dehydrogenase phosphatase deficiency 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
What are the signs and symptoms of Congenital torticollis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital torticollis. 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 - Facial asymmetry - Torticollis - 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.
These resources address the diagnosis or management of HSAN5: - Genetic Testing Registry: Congenital sensory neuropathy with selective loss of small myelinated fibers 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 neuroferritinopathy: - Gene Review: Gene Review: Neuroferritinopathy - Genetic Testing Registry: Neuroferritinopathy 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
Giardiasis is an illness caused by a parasite called Giardia intestinalis. It lives in soil, food, and water. It may also be on surfaces that have been contaminated with waste. You can become infected if you swallow the parasite. You can also get it if you're exposed to human feces (poop) through sexual contact. The risk of getting giardia is higher for travelers to countries where it is common, people in child care settings, and those who drink untreated water. Diarrhea is the main symptom of giardia infection. Others include - Passing gas - Greasy stools - Stomach cramps - Upset stomach or nausea These symptoms may lead to weight loss and loss of body fluids. Some people have no symptoms at all. Symptoms of infection often last two to six weeks. Stool sample tests can diagnose it. You often need to collect several samples to test. Doctors use several drugs to treat it. The best way to prevent giardia infection is to practice good hygiene, including frequent hand washing. You should not drink water that may be contaminated. You should also peel or wash fresh fruit and vegetables before eating. Centers for Disease Control and Prevention
What causes synovial chondromatosis? The exact underlying cause of synovial chondromatosis is unknown. Some research suggests that trauma may play a role in its development because the condition primarily occurs in weight-bearing joints. Infection has also been considered as a contributing factor. The condition is not inherited. Synovial chondromatosis can reportedly occur as either a primary or secondary form. Primary synovial chondromatosis, which is more rare, occurs spontaneously and does not appear to relate to any pre-existing conditions. Secondary synovial chondromatosis is the more common form and often occurs when there is pre-existent osteoarthritis, rheumatoid arthritis, osteonecrosis, osteochondritis dissecans, neuropathic osteoarthropathy (which often occurs in diabetic individuals), tuberculosis, or osteochondral fractures (torn cartilage covering the end of a bone in a joint) in the affected individual.
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 supports research to find ways to treat and prevent lipid storage diseases such as Fabry disease. Researchers hope to identify biomarkers -- signs that may indicate risk of a disease and improve diagnosis -- for Fabry disease and other lipid storage diseases that will speed the development of novel therapeutics for these disorders. One NINDS-funded project is evaluating a rat model of Fabry disease, through which researchers hope to develop new proteins to increase the potency of enzyme replacement therapy.
Netherton syndrome is estimated to affect 1 in 200,000 newborns.
What are the signs and symptoms of Radio-ulnar synostosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio-ulnar synostosis type 1. 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 - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - 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.
Russell-Silver syndrome is a growth disorder characterized by slow growth before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear unusually large compared to the rest of the body. Affected children are thin and have poor appetites, and some develop low blood sugar (hypoglycemia) as a result of feeding difficulties. Adults with Russell-Silver syndrome are short; the average height for affected males is about 151 centimeters (4 feet, 11 inches) and the average height for affected females is about 140 centimeters (4 feet, 7 inches). Many children with Russell-Silver syndrome have a small, triangular face with distinctive facial features including a prominent forehead, a narrow chin, a small jaw, and downturned corners of the mouth. Other features of this disorder can include an unusual curving of the fifth finger (clinodactyly), asymmetric or uneven growth of some parts of the body, and digestive system abnormalities. Russell-Silver syndrome is also associated with an increased risk of delayed development and learning disabilities.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder. In approximately 30 to 50 percent of cases, an affected person inherits the mutation or deletion from one affected parent. Other cases result from new mutations in the gene or new deletions of genetic material on chromosome 20 that occur as random events during the formation of reproductive cells (eggs or sperm) or in early fetal development. These cases occur in people with no history of the disorder in their family.
What are the signs and symptoms of Atrial septal defect ostium primum? The Human Phenotype Ontology provides the following list of signs and symptoms for Atrial septal defect ostium primum. 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) Atria septal defect - 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.
Is autoimmune hemolytic anemia inherited? In many cases, the cause of autoimmune hemolytic anemia remains unknown. Some researchers believe that there are multiple factors involved, including genetic and environmental influences (multifactorial). In a very small number of cases, autoimmune hemolytic anemia appears to run in families. In these cases, it appears to follow an autosomal recessive pattern of inheritance. If you have concerns about the specific risks in your family, we encourage you to consult with a genetics professional.
The National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institute of Environmental Health Sciences (NIEHS) and other institutes of the National Institutes of Health (NIH) conduct research relating to IBM in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.
What causes cholesteatoma? A cholesteatoma usually occurs because of poor eustachian tube function in conjunction with infection in the middle ear. Negative pressure within the middle ear pulls a part of the eardrum the wrong way, creating a sac or cyst that fills with old skin cells and other waste material. As the cyst gets bigger, some of the middle ear bones break down, affecting hearing. A rare congenital form of cholesteatoma (one present at birth) can occur in the middle ear and elsewhere, such as in the nearby skull bones.
Diabetic retinopathy often has no early warning signs. Don't wait for symptoms. Be sure to have a comprehensive dilated eye exam at least once a year. Learn more about a comprehensive dilated eye exam.
Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement. Other features that occur in some affected individuals include seizures; structural abnormalities of the kidneys, heart, brain, or other organs; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected males may have the opening of the urethra on the underside of the penis (hypospadias) or undescended testes (cryptorchidism). Babies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months.
Pheochromocytoma is a rare tumor that usually starts in the cells of one of your adrenal glands. Although they are usually benign, pheochromocytomas often cause the adrenal gland to make too many hormones. This can lead to high blood pressure and cause symptoms such as - Headaches - Sweating - Pounding of the heart - Being shaky - Being extremely pale Sometimes pheochromocytoma is part of another condition called multiple endocrine neoplasia syndrome (MEN). People with MEN often have other cancers and other problems involving hormones. Doctors use lab tests and imaging tests to diagnose it. Surgery is the most common treatment. Other options include radiation therapy, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute
Juvenile primary lateral sclerosis is a rare disorder characterized by progressive weakness and tightness (spasticity) of muscles in the arms, legs, and face. The features of this disorder are caused by damage to motor neurons, which are specialized nerve cells in the brain and spinal cord that control muscle movement. Symptoms of juvenile primary lateral sclerosis begin in early childhood and progress slowly over many years. Early symptoms include clumsiness, muscle weakness and spasticity in the legs, and difficulty with balance. As symptoms progress, the spasticity spreads to the arms and hands and individuals develop slurred speech, drooling, difficulty swallowing, and an inability to walk.
To reduce the risk of clots, your doctor may have you elevate your leg periodically and prescribe special exercises, support hose, or blood thinners. To reduce the risk of infection, your doctor may prescribe antibiotics for you to take prior to your surgery and for a short time afterward.
What are the signs and symptoms of Medulloblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Medulloblastoma. 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 - Medulloblastoma - 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.
GM3 synthase deficiency appears to be a rare condition. About 50 cases have been reported, mostly from Old Order Amish communities.
Your LDL goal is how low your LDL cholesterol level should be to reduce your risk of developing heart disease or having a heart attack. The higher your risk, the lower your goal LDL should be. Your doctor will set your LDL goal using your medical history and the number of risk factors that you have.
These resources address the diagnosis or management of T-cell immunodeficiency, congenital alopecia, and nail dystrophy: - Be The Match: What is a Bone Marrow Transplant? - Genetic Testing Registry: T-cell immunodeficiency, congenital alopecia and nail dystrophy - MedlinePlus Encyclopedia: Bone Marrow Transplant 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
Carpenter syndrome is a condition characterized by premature fusion of skull bones (craniosynostosis); finger and toe abnormalities; and other developmental problems. The features in affected people vary. Craniosynostosis can give the head a pointed appearance; cause asymmetry of the head and face; affect the development of the brain; and cause characteristic facial features. Other signs and symptoms may include dental abnormalities; vision problems; hearing loss; heart defects; genital abnormalities; obesity; various skeletal abnormalities; and a range of intellectual disability. Carpenter syndrome can be caused by mutations in the RAB23 or MEGF8 gene and is inherited in an autosomal recessive manner. Treatment focuses on the specific features in each affected person. Life expectancy is shortened but very variable.
Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and cleft palate. Symptoms may affect one or both sides of the face and limbs. Cleft palate has been reported only in females. Other signs and symptoms occur variably. Intellectual development has been reported as normal. In most cases the cause of the condition is unknown (sporadic). Some cases have been reported in association with diabetes during pregnancy (maternal diabetes). There have been rare reports (three cases) describing a family with more than one affected member.
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.
A concussion is a type of brain injury. It's the most minor form. Technically, a concussion is a short loss of normal brain function in response to a head injury. But people often use it to describe any minor injury to the head or brain. Concussions are a common type of sports injury. You can also have one if you suffer a blow to the head or hit your head after a fall. Symptoms of a concussion may not start right away; they may start days or weeks after the injury. Symptoms may include a headache or neck pain. You may also have nausea, ringing in your ears, dizziness, or tiredness. You may feel dazed or not your normal self for several days or weeks after the injury. Consult your health care professional if any of your symptoms get worse, or if you have more serious symptoms such as - Seizures - Trouble walking or sleeping - Weakness, numbness, or decreased coordination - Repeated vomiting or nausea - Confusion - Slurred speech Doctors use a neurologic exam and imaging tests to diagnose a concussion. Most people recover fully after a concussion, but it can take some time. Rest is very important after a concussion because it helps the brain to heal. Centers for Disease Control and Prevention
Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected. The signs and symptoms of FIBGC include movement disorders and psychiatric or behavioral difficulties. These problems begin in adulthood, usually in a person's thirties. The movement difficulties experienced by people with FIBGC include involuntary tensing of various muscles (dystonia), problems coordinating movements (ataxia), and uncontrollable movements of the limbs (choreoathetosis). Affected individuals often have seizures as well. The psychiatric and behavioral problems include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). An estimated 20 to 30 percent of people with FIBGC have one of these psychiatric disorders. The severity of this condition varies among affected individuals; some people have no symptoms related to the brain calcification, whereas other people have significant movement and psychiatric problems.
Variations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene increase the risk of developing Lynch syndrome. The MLH1, MSH2, MSH6, and PMS2 genes are involved in the repair of mistakes that occur when DNA is copied in preparation for cell division (a process called DNA replication). Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Mutations in the EPCAM gene also lead to impaired DNA repair, although the gene is not itself involved in this process. The EPCAM gene lies next to the MSH2 gene on chromosome 2; certain EPCAM gene mutations cause the MSH2 gene to be turned off (inactivated), interrupting DNA repair and leading to accumulated DNA mistakes. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors.
Schilder's disease is a rare progressive demyelinating disorder which usually begins in childhood. Schilder's disease is not the same as Addison-Schilder disease (adrenoleukodystrophy). Symptoms may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment. The disorder is a variant of multiple sclerosis.
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.
Chronic hepatitis B is a long-lasting infection with the hepatitis B virus. Chronic hepatitis B occurs when the body cant get rid of the hepatitis B virus. Children, especially infants, are more likely to get chronic hepatitis B, which usually has no symptoms until signs of liver damage appear. Without treatment, chronic hepatitis B can cause liver cancer or severe liver damage that leads to liver failure. Liver failure occurs when the liver stops working properly.
It is unknown how Marburg virus first transmits from its animal host to humans; however, for the 2 cases in tourists visiting Uganda in 2008, unprotected contact with infected bat feces or aerosols are the most likely routes of infection. After this initial crossover of virus from host animal to humans, transmission occurs through person-to-person contact. This may happen in several ways: direct contact to droplets of body fluids from infected persons, or contact with equipment and other objects contaminated with infectious blood or tissues. In previous outbreaks, persons who have handled infected non-human primates or have come in direct contact with their fluids or cell cultures have become infected. Spread of the virus between humans has occurred in close environments and direct contacts. A common example is through caregivers in the home or in a hospital (nosocomial transmission).
Pseudotumor cerebri literally means "false brain tumor." It is likely due to high pressure within the skull caused by the buildup or poor absorption of cerebrospinal fluid (CSF). The disorder is most common in women between the ages of 20 and 50. Symptoms of pseudotumor cerebri, which include headache, nausea, vomiting, and pulsating sounds within the head, closely mimic symptoms of large brain tumors.
Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with Down syndrome are born in the United States each year, and an estimated 250,000 people in this country have the condition. Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases as a woman gets older.
These resources address the diagnosis or management of hereditary xanthinuria: - Genetic Testing Registry: Deficiency of xanthine oxidase - Genetic Testing Registry: Xanthinuria type 2 - MedlinePlus Encyclopedia: Uric Acid - Blood 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
Basal cell carcinoma develops in the basal cells of the epidermis, the outer layer of the skin. It is the most common type of skin cancer in the United States, but it spreads slowly and is rarely life-threatening. Basal cell carcinoma occurs most often on parts of the body that have been exposed to the sun, such as the face, ears, neck, hands and legs. However, it can be found on any part of the body.
Vesicoureteral reflux is the abnormal flow of urine from the bladder to the upper urinary tract. The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. Blood flows through the kidneys, and the kidneys filter out wastes and extra water, making urine. The urine travels down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder. In VUR, urine may flow backrefluxinto one or both ureters and, in some cases, to one or both kidneys. VUR that affects only one ureter and kidney is called unilateral reflux, and VUR that affects both ureters and kidneys is called bilateral reflux.
The various syndromes of which congenital hepatic fibrosis is often a feature can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated 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. Rare syndromes involving congenital hepatic fibrosis may be inherited in an X-linked recessive pattern, in which the gene associated with the syndrome is located on the X chromosome, which is one of the two sex chromosomes. In isolated congenital hepatic fibrosis, the inheritance pattern is unknown.
Most people do not have any symptoms of hepatitis B. Adults and children ages 5 and older may have one or more of the following symptoms: - feeling tired - muscle soreness - upset stomach - stomach pain - fever - loss of appetite - diarrhea - dark-yellow urine - light-colored stools - yellowish eyes and skin, called jaundice When symptoms occur, they can begin 2 to 5 months after coming into contact with the virus. See a doctor right away if you or a child in your care has symptoms of hepatitis B.
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.
People drown when they get too much water in their lungs. You can drown in as little as an inch or two of water. Babies can drown in a sink or bathtub. Preschoolers are most likely to drown in a swimming pool. People who have seizure disorders are also at risk in the water. Drowning can happen quickly and silently. Drowning precautions should include - Fences around pools - Supervising children near any body of water, including tubs - Not swimming or boating when under the influence of alcohol or sedatives - Wearing life jackets when boating - Learning CPR
What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease. Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures.
The following steps may help relieve the symptoms of viral gastroenteritis in adults: - drinking plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes - sipping small amounts of clear liquids or sucking on ice chips if vomiting is still a problem - gradually reintroducing food, starting with bland, easy-to-digest foods such as rice, potatoes, toast or bread, cereal, lean meat, applesauce, and bananas - avoiding fatty foods, sugary foods, dairy products, caffeine, and alcohol until recovery is complete - getting plenty of rest Children present special concerns. Because of their smaller body size, infants and children are likely to become dehydrated more quickly from diarrhea and vomiting. The following steps may help relieve symptoms of viral gastroenteritis and prevent dehydration in children: - giving oral rehydration solutions such as Pedialyte, Naturalyte, Infalyte, and CeraLyte - giving food as soon as the child is hungry - giving infants breast milk or full strength formula, as usual, along with oral rehydration solutions Older adults and adults with weak immune systems should also drink oral rehydration solutions to prevent dehydration.
How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
What causes achondrogenesis? Research has shown that changes (mutations) in the SLC26A2 and COL2A1 genes cause achondrogenesis types 1B and 2, respectively. The genetic cause of achondrogenesis type 1A remains unknown. The SLC26A2 gene provides instructions for making a protein that is important for the normal development of cartilage and for the conversion of cartilage to bone. The COL2A1 gene provides instructions for making a protein that forms a type of collagen found mostly in cartilage and in the clear gel that fills the eyeball (vitreous). Mutations in these genes result in the production of proteins that are unable to properly perform their jobs within the body.
How might sialidosis type I be treated? There is no specific treatment for sialidosis. Management should be multidisciplinary and directed at supportive care and symptomatic relief. Overall health maintenance should be a priority, with seizure control as necessary. Myoclonic seizures often respond poorly to treatment with anticonvulsant medications.
What causes Langerhans cell histiocytosis? The cause of Langerhans cell histiocytosis is unknown. It may be triggered by an unusual reaction of the immune system to something commonly found in the environment. It is not considered to be an infection or cancer. It is not known to be hereditary or communicable.
These resources address the diagnosis or management of age-related macular degeneration: - BrightFocus Foundation: Macular Degeneration Treatment - Genetic Testing Registry: Age-related macular degeneration - Genetic Testing Registry: Age-related macular degeneration 1 - Genetic Testing Registry: Age-related macular degeneration 10 - Genetic Testing Registry: Age-related macular degeneration 11 - Genetic Testing Registry: Age-related macular degeneration 2 - Genetic Testing Registry: Age-related macular degeneration 3 - Genetic Testing Registry: Age-related macular degeneration 4 - Genetic Testing Registry: Age-related macular degeneration 7 - Genetic Testing Registry: Age-related macular degeneration 9 - Genetic Testing Registry: Susceptibility to age-related macular degeneration, wet type - Genetic Testing Registry: Susceptibility to neovascular type of age-related macular degeneration - Macular Degeneration Partnership: Low Vision Rehabilitation - Prevent Blindness America: Age-Related Macular Degeneration (AMD) Test - Amsler Grid 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 National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) support research learning disabilities through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of their biological basis.
An early, accurate diagnosis of Alzheimer's disease helps people and their families plan for the future. It gives them time to discuss care options, find support, and make legal and financial arrangements while the person with Alzheimers can still take part in making decisions. Also, even though no medicine or other treatment can stop or slow the disease, early diagnosis offers the best chance to treat the symptoms.
While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence of the Siderius type is unknown. Only a few affected families have been described in the scientific literature.
Treatment for heart failure includes lifestyle changes medications specialized care for those in advanced stages of the disease.
How is pseudohypoaldosteronism type 2 diagnosed? Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. Mildly elevated levels of chloride ion in the blood, metabolic acidosis, and suppressed plasma renin activity are variably associated with this condition as well. Aldosterone levels may vary from high to low.
N-acetylglutamate synthase deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. N-acetylglutamate synthase deficiency may become evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications of N-acetylglutamate synthase deficiency may include developmental delay and intellectual disability. In some affected individuals, signs and symptoms of N-acetylglutamate synthase deficiency are less severe, and do not appear until later in life. Some people with this form of the disorder cannot tolerate high-protein foods such as meat. They may experience sudden episodes of ammonia toxicity, resulting in vomiting, lack of coordination, confusion or coma, in response to illness or other stress.
Muckle-Wells syndrome is an autoinflammatory disease, and the intermediate form of cryopyrin-associated periodic syndrome (CAPS). Signs and symptoms may include recurrent episodes of fever, skin rash, joint pain, abdominal pain, and pinkeye; progressive sensorineural deafness; and amyloidosis. It is caused by mutations in the NLRP3 gene and is inherited in an autosomal dominant manner. Treatment includes a medication called Anakinra during acute episodes.
These resources address the diagnosis or management of CPT I deficiency: - Baby's First Test - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians - Gene Review: Gene Review: Carnitine Palmitoyltransferase 1A Deficiency - Genetic Testing Registry: Carnitine palmitoyltransferase I deficiency 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
Lymphedema-distichiasis syndrome is a condition that affects the normal function of the lymphatic system, which is a part of the circulatory and immune systems. The lymphatic system produces and transports fluids and immune cells throughout the body. People with lymphedema-distichiasis syndrome develop puffiness or swelling (lymphedema) of the limbs, typically the legs and feet. Another characteristic of this syndrome is the growth of extra eyelashes (distichiasis), ranging from a few extra eyelashes to a full extra set on both the upper and lower lids. These eyelashes do not grow along the edge of the eyelid, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Related eye problems can include an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea. Other health problems associated with this disorder include swollen and knotted (varicose) veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate). All people with lymphedema-distichiasis syndrome have extra eyelashes present at birth. The age of onset of lymphedema varies, but it most often begins during puberty. Males usually develop lymphedema earlier than females, but all affected individuals will develop lymphedema by the time they are in their forties.
A laryngeal cleft is a rare abnormality of the separation between the larynx, or voice box, and the esophagus. Normally, when the larynx develops, it is completely separate from the esophagus so swallowed foods go directly into the stomach. When a laryngeal cleft occurs, there is an opening between the larynx and the esophagus so food and liquid can pass through the larynx into the lungs. There are several different types of laryngeal clefts (Types I through IV), classified based on the extent of the clefting.
Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.
These resources address the diagnosis or management of Miller syndrome: - Genetic Testing Registry: Miller 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
Key Points - The plan for cancer treatment depends on whether the tumor is in one area of the brain or has spread all through the brain. The plan for cancer treatment depends on whether the tumor is in one area of the brain or has spread all through the brain. Staging is the process used to find out how much cancer there is and if cancer has spread. It is important to know the stage in order to plan treatment. There is no standard staging system for childhood brain stem glioma. Treatment is based on the following: - Whether the tumor is newly diagnosed or recurrent (has come back after treatment). - The type of tumor (either a diffuse intrinsic pontine glioma or a focal glioma).