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Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the underlying veins and other blood vessels did not develop properly (venous malformations). The lesions can be painful, especially when they extend from the skin into the muscles and joints, or when a calcium deposit forms within the lesion causing inflammation and swelling. Most people with VMCM are born with at least one venous malformation. As affected individuals age, the lesions present from birth usually become larger and new lesions often appear. The size, number, and location of venous malformations vary among affected individuals, even among members of the same family.
These resources address the diagnosis or management of malignant hyperthermia: - Gene Review: Gene Review: Malignant Hyperthermia Susceptibility - Genetic Testing Registry: Malignant hyperthermia susceptibility type 1 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 2 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 3 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 4 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 5 - Genetic Testing Registry: Malignant hyperthermia susceptibility type 6 - MedlinePlus Encyclopedia: Malignant Hyperthermia 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 systemic lupus erythematosus: - MedlinePlus Encyclopedia: Antinuclear Antibody Panel 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 - Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. - Liver cancer is less common in the United States than in other parts of the world. - Having hepatitis or cirrhosis can increase the risk of developing liver cancer. Liver cancer is a disease in which malignant (cancer) cells form in the tissues of the liver. The liver is one of the largest organs in the body. It has four lobes and fills the upper right side of the abdomen inside the rib cage. Three of the many important functions of the liver are: - To filter harmful substances from the blood so they can be passed from the body in stools and urine. - To make bile to help digest fats from food. - To store glycogen (sugar), which the body uses for energy. See the following PDQ summaries for more information about liver (hepatocellular) cancer: - Liver (Hepatocellular) Cancer Prevention - Adult Primary Liver Cancer Treatment - Childhood Liver Cancer Treatment Liver cancer is less common in the United States than in other parts of the world. Liver cancer is uncommon in the United States, but is the fourth most common cancer in the world. In the United States, men, especially Chinese American men, have a greater risk of developing liver cancer.
What are the symptoms of Mollaret meningitis? The symptoms of Mollaret meningitis are the same as those found in other types of meningitis. In Mollaret meningitis, however, the symptoms are recurring and are often accompanied by long-term irregularity of the nervous system. Common symptoms of meningitis may include: High fever Severe headache Nausea Vomiting Stiff neck Photophobia (sensitivity to light) Altered mental state
Paramyotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in infancy or early childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. Myotonia causes muscle stiffness that typically appears after exercise and can be induced by muscle cooling. This stiffness chiefly affects muscles in the face, neck, arms, and hands, although it can also affect muscles used for breathing and muscles in the lower body. Unlike many other forms of myotonia, the muscle stiffness associated with paramyotonia congenita tends to worsen with repeated movements. Most peopleeven those without muscle diseasefeel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling.
Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Zollinger-Ellison syndrome.
What are the signs and symptoms of Brugada syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Brugada syndrome 4. 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 - Shortened QT interval - Syncope - 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 stiff person syndrome inherited? Genetic factors involved in causing stiff person syndrome have not been established. While most cases appear to occur in an isolated manner, some familial cases have been reported. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics may play a role.
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare condition in which cells called neuroendocrine cells spread and cluster in the small airways of the lungs. The majority of affected individuals are middled-aged women. Symptoms include shortness of breath and coughing. It is considered to be a precursor for pulmonary carcinoid tumors. Because so few cases have been reported in the medical literature, there is limited information on the prognosis and management of this condition.
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 conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. NINDS-funded research includes studies to understand the genetic causes of ACC, as well as to understand how magnetic resonance imaging findings may help predict outcome and response to therapy.
TSEs tend to progress rapidly and usually culminate in death over the course of a few months to a few years.
What causes 48,XXYY? 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 48,XXYY syndrome results from the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). Extra copies of genes on the X chromosome interfere with male sexual development, preventing the testes from functioning normally and reducing the levels of testosterone. Many genes are found only on the X or Y chromosome, but genes in areas known as the pseudoautosomal regions are present on both sex chromosomes. Extra copies of genes from the pseudoautosomal regions of the extra X and Y chromosome contribute to the signs and symptoms of 48,XXYY syndrome; however, the specific genes have not been identified.[5209]
Doctors often don't know what causes tetralogy of Fallot and other congenital heart defects. Some conditions or factors that occur during pregnancy may raise your risk of having a child who has tetralogy of Fallot. These conditions and factors include: German measles (rubella) and some other viral illnesses Poor nutrition Alcohol use Age (being older than 40) Diabetes Heredity may play a role in causing tetralogy of Fallot. An adult who has tetralogy of Fallot may be more likely than other people to have a baby with the condition. Children who have certain genetic disorders, such as Down syndrome and DiGeorge syndrome, often have congenital heart defects, including tetralogy of Fallot. Researchers continue to search for the causes of tetralogy of Fallot and other congenital heart defects.
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.
Progressive osseous heteroplasia is a rare condition. Its exact incidence is unknown.
Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, and eye and bone abnormalities. Cockayne syndrome type 1 (type A) is sometimes called classic or "moderate" Cockayne syndrome and is diagnosed during early childhood. Cockayne syndrome type 2 (type B) is sometimes referred to as the severe or "early-onset" type. This more severe form presents with growth and developmental abnormalities at birth. The third type, Cockayne syndrome type 3 (type C) is a milder form of the disorder. Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes and is inherited in an autosomal recessive pattern. The typical lifespan for individuals with Cockayne syndrome type 1 is ten to twenty years. Individuals with type 2 usually do not survive past childhood. Those with type 3 live into middle adulthood.
Fragile XE syndrome is a genetic disorder that impairs thinking ability and cognitive functioning. Most affected individuals have mild intellectual disability. In some people with this condition, cognitive function is described as borderline, which means that it is below average but not low enough to be classified as an intellectual disability. Females are rarely diagnosed with fragile XE syndrome, likely because the signs and symptoms are so mild that the individuals function normally. Learning disabilities are the most common sign of impaired cognitive function in people with fragile XE syndrome. The learning disabilities are likely a result of communication and behavioral problems, including delayed speech, poor writing skills, hyperactivity, and a short attention span. Some affected individuals display autistic behaviors, such as hand flapping, repetitive behaviors, and intense interest in a particular subject. Unlike some other forms of intellectual disability, cognitive functioning remains steady and does not decline with age in fragile XE syndrome.
Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken.
The prevalence of leukoencephalopathy with vanishing white matter is unknown. Although it is a rare disorder, it is believed to be one of the most common inherited diseases that affect the white matter.
Is genetic testing available for bilateral perisylvian polymicrogyria? Genetic testing is not available for bilateral perisylvian polymicrogyria because the underlying genetic cause is unknown. How is bilateral perisylvian polymicrogyria diagnosed? A diagnosis of bilateral perisylvian polymicrogyria (BPP) is typically based on a thorough physical examination, a detailed medical history and a complete neurological evaluation, which many include the following tests: Electroencephalography (EEG) Computed tomography (CT) scanning Magnetic resonance imaging (MRI)
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell is sufficient to cause the disorder. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell causes the condition. In most cases, males experience more severe symptoms of the disorder than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include: - Cancer - Cysts - Stones - Infections Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese. Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated. Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves disease. These individuals are said to have moyamoya syndrome.
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 hidradenocarcinoma be treated? Because hidradenocarcinoma is quite rare, there are no established guidelines for treatment. Treatment is determined by the size and location of each particular cancer and the extent to which cancer cells may have spread to nearby lymph nodes or tissues. Surgery is often the first step and aims to remove as much of the cancer as possible. Both a traditional surgical technique, known as wide local excision, and the newer Mohs micrographic surgery have been used to remove hidradenocarcinomas. Radiation therapy, performed by a doctor known as radiation oncologist, has been used after surgery in patients with hidradenocarcinoma to destroy any cancer cells that may remain at the original location of the tumor or in the lymph nodes. Chemotherapy, performed by a doctor known as a medical oncologist, has not yet been proven as effective treatment for hidradenocarcinomas.
These resources address the diagnosis or management of fibronectin glomerulopathy: - Genetic Testing Registry: Glomerulopathy with fibronectin deposits 2 - MedlinePlus Encyclopedia: Protein Urine Test These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
This condition is inherited in an 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 chest is the part of the body between your neck and your abdomen. It includes the ribs and breastbone. Inside your chest are several organs, including the heart, lungs, and esophagus. The pleura, a large thin sheet of tissue, lines the inside of the chest cavity. Chest injuries and disorders include - Heart diseases - Lung diseases and collapsed lung - Pleural disorders - Esophagus disorders - Broken ribs - Thoracic aortic aneurysms - Disorders of the mediastinum, the space between the lungs, breastbone, and spine
- Lactose is a sugar found in milk and milk products. - Lactose intolerance means you have symptoms such as bloating, diarrhea, and gas after you have milk or milk products. - Your doctor will try to find out if you have lactose intolerance with a medical, family, and diet history; a physical exam; and medical tests. - Most people with lactose intolerance can eat or drink some lactose without symptoms. - If you have lactose intolerance, you can make changes to what you eat and drink. Some people may only need to have less lactose. Others may need to avoid lactose altogether. - Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D. For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes. - Lactose is in many food products and in some medicines.
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. The disorder may become apparent in the first few months of life, or later in childhood. The more severe form of the disorder is called 'profound biotinidase deficiency' and may cause delayed development, seizures, weak muscle tone (hypotonia), breathing problems, hearing and vision loss, problems with movement and balance (ataxia), skin rashes, hair loss (alopecia), and a fungal infection called candidiasis. The milder form is called 'partial biotinidase deficiency'; without treatment, affected children may experience hypotonia, skin rashes, and hair loss. In some cases, these symptoms only appear during illness, infection, or other times of stress on the body. Biotinidase deficiency is caused by mutations in the BTD gene and is inherited in an autosomal recessive manner. Lifelong treatment with biotin can prevent symptoms and complications from occurring or improve them if they have already developed.
Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.
What are the signs and symptoms of Kallmann syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann syndrome 5. 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) Anosmia 30% Autosomal dominant inheritance - Hypogonadotrophic hypogonadism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the signs and symptoms of Leiomyoma of vulva and esophagus? The Human Phenotype Ontology provides the following list of signs and symptoms for Leiomyoma of vulva and esophagus. 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 - Clitoromegaly - Esophageal obstruction - 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.
Mutations in the TEK gene (also called the TIE2 gene) cause VMCM. The TEK gene provides instructions for making a protein called TEK receptor tyrosine kinase. This receptor protein triggers chemical signals needed for forming blood vessels (angiogenesis) and maintaining their structure. This signaling process facilitates communication between two types of cells within the walls of blood vessels, endothelial cells and smooth muscle cells. Communication between these two cell types is necessary to direct angiogenesis and ensure the structure and integrity of blood vessels. TEK gene mutations that cause VMCM result in a TEK receptor that is always turned on (overactive). An overactive TEK receptor is thought to disrupt the communication between endothelial cells and smooth muscle cells. It is unclear how a lack of communication between these cells causes venous malformations. These abnormal blood vessels show a deficiency of smooth muscle cells while endothelial cells are maintained. Venous malformations cause lesions below the surface of the skin or mucous membranes, which are characteristic of VMCM.
The National Institutes of Health (NIH), through the collaborative efforts of its National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and National Institute of Environmental Health Sciences (NIEHS), conducts and supports a wide range of research on neuromuscular disorders, including the inflammatory myopathies. The NINDS and NIAMS are funding DNA analyses using microarrays to characterize patterns of muscle gene expression among adult and juvenile individuals with distinct subtypes of inflammatory myopathies. Findings will be used to refine disease classification and provide clues to the pathology of these disorders. Other NIH-funded research is studying prior viral infection as a precursor to inflammatory myopathy. Other research hopes to determine whether the drug infliximab, which blocks a protein that is associated with harmful inflammation, is safe and effective in treating dermatomyositis and polymyositis.
A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue. The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation. MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung. Treatment of MPNST begins with surgery to remove as much of the tumor as possible. Radiation therapy may be used to decrease the chance of a recurrence. Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis. MPNSTs are quite rare, occurring in 0.001% of the general population. Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1.
What causes subacute cerebellar degeneration? Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration. Subacute cerebellar degeneration may also occur due to thiamine deficiency. Causes of thiamin deficiency include alcoholism, recurrent vomiting, gastric surgery, and diets poor in this B vitamin. These cases are referred to as alcoholic/nutritional cerebellar degeneration. For further information pertaining to the neurological effects of severe thiamine deficiency, see the following link to the Wernicke-Korsakoff syndrome resource page. http://rarediseases.info.nih.gov/gard/6843/wernicke-korsakoff-syndrome/Resources/1
Brooke-Spiegler syndrome is a rare disorder; its prevalence is unknown.
This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the inheritance pattern is unknown.
These resources address the diagnosis or management of ADA deficiency: - American Society of Gene and Cell Therapy: Gene Therapy for Genetic Disorders - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: Adenosine Deaminase Deficiency - Genetic Testing Registry: Severe combined immunodeficiency due to ADA deficiency - National Marrow Donor Program: SCID and 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
Snoring is the sound you make when your breathing is blocked while you are asleep. The sound is caused by tissues at the top of your airway that strike each other and vibrate. Snoring is common, especially among older people and people who are overweight. When severe, snoring can cause frequent awakenings at night and daytime sleepiness. It can disrupt your bed partner's sleep. Snoring can also be a sign of a serious sleep disorder called sleep apnea. You should see your health care provider if you are often tired during the day, don't feel that you sleep well, or wake up gasping. To reduce snoring - Lose weight if you are overweight. It may help, but thin people can snore, too. - Cut down or avoid alcohol and other sedatives at bedtime - Don't sleep flat on your back NIH: National Institute on Aging
PLS is not fatal. There is no cure and the progression of symptoms varies. Some people may retain the ability to walk without assistance, but others eventually require wheelchairs, canes, or other assistive devices.
What causes Best vitelliform macular dystrophy? Best vitelliform macular dystrophy (BVMD) is caused by changes (mutations) in the BEST1 gene. This gene gives the body instructions for making a protein called bestrophin. Bestrophin acts as a channel that controls the movement of chloride ions within the retina. It is thought that mutations in the BEST1 gene affect the shape of the channel and its ability to properly regulate the flow of chloride. However, it is unclear how exactly this relates to the specific features of BVMD.
Kidney disease is most often caused by diabetes or high blood pressure. Each kidney contains about one million tiny filters made up of blood vessels. These filters are called glomeruli. Diabetes and high blood pressure damage these blood vessels, so the kidneys are not able to filter the blood as well as they used to. Usually this damage happens slowly, over many years. As more and more filters are damaged, the kidneys eventually stop working.
What are the signs and symptoms of Fingerprint body myopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Fingerprint body myopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Myopathy - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What treatments are available for ovarian small cell carcinoma? Ovarian small cell carcinoma is often treated with surgery and chemotherapy. Radiation therapy may also be used in some cases. Because this tumor is derived from the primitive germ cells (eggs) of the ovary, it is often treated with a chemotherapy regimen similar to what is used to treat ovarian germ cell tumors. Specifically, platinum and etoposide based chemotherapy is typically used to treat ovarian small cell carcinoma.
What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP). Treatments aim to relieve the symptoms of this condition. For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain. If the kidneys are severely affected in an individual with HSP, immunosuppressive medications, such as cyclophosphamide, may be prescribed. In rare cases, individuals with HSP may need to be hospitalized if they experience severe abdominal pain, bleeding from the digestive tract, or kidney problems.
Multiple familial trichoepithelioma is a rare condition characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are derived from immature hair follicles. They usually first develop during childhood or adolescence and may grow larger and increase in number over time. The condition can be caused by alterations (mutations) in the CYLD gene or by mutations in other genes which are still unknown. The condition may be divided in two subtypes, multiple familial trichoepithelioma type 1 and multiple familial trichoepithelioma type 2. Susceptibility to multiple familial trichoepithelioma is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder.Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.
Summary : As a teenager, you go through many changes. Your body is on its way to becoming its adult size. You may notice that you can't fit into your old shoes or that your jeans are now 3 inches too short. Along with these changes, you are probably becoming more independent and making more of your own choices. Some of the biggest choices you face are about your health. Healthy habits, including eating a healthy diet and being physically active, can help you feel good, look good, and do your best in school, work, or sports. They might also prevent diseases such as diabetes, high blood pressure, heart disease, osteoporosis, stroke, and some cancers when you are older.
Menstruation, or period, is normal vaginal bleeding that occurs as part of a woman's monthly cycle. Every month, your body prepares for pregnancy. If no pregnancy occurs, the uterus, or womb, sheds its lining. The menstrual blood is partly blood and partly tissue from inside the uterus. It passes out of the body through the vagina. Periods usually start between age 11 and 14 and continue until menopause at about age 51. They usually last from three to five days. Besides bleeding from the vagina, you may have - Abdominal or pelvic cramping - Lower back pain - Bloating and sore breasts - Food cravings - Mood swings and irritability - Headache and fatigue Premenstrual syndrome, or PMS, is a group of symptoms that start before the period. It can include emotional and physical symptoms. Consult your health care provider if you have big changes in your cycle. They may be signs of other problems that should be treated. NIH: National Institute of Child Health and Human Development
How might rheumatic fever be treated? Treatment of rheumatic fever usually consists of antibiotics to treat the underlying group A Streptococcus bacterial infection and anti-inflammatory medications such as aspirin or corticosteroids. Because people with a history of rheumatic fever have a high risk of developing recurrent episodes of the condition, low dose antibiotics are often continued over a long period of time to prevent recurrence.
COG5-CDG is caused by mutations in the COG5 gene, which provides instructions for making one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex functions in the Golgi apparatus, which is a cellular structure in which newly produced proteins are modified. One process that occurs in the Golgi apparatus is glycosylation, by which sugar molecules (oligosaccharides) are attached to proteins and fats. Glycosylation modifies proteins so they can perform a wider variety of functions. The COG complex takes part in the transport of proteins, including those that perform glycosylation, in the Golgi apparatus. COG5 gene mutations reduce the amount of COG5 protein or eliminate it completely, which disrupts protein transport. This disruption results in abnormal protein glycosylation, which can affect numerous body systems, leading to the signs and symptoms of COG5-CDG. The severity of COG5-CDG is related to the amount of COG5 protein that remains in cells.
TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: Telangiectasias, Erythrocytosis with elevated erythropoietin level, Monoclonal gammopathy, Perinephric-fluid collections (fluid around the kidney), and Intrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown. Treatment has reportedly been completely or partially successful with the medication bortezomib.
The inguinal canal is a passage through the lower abdominal wall. People have two inguinal canalsone on each side of the lower abdomen. In males, the spermatic cords pass through the inguinal canals and connect to the testicles in the scrotumthe sac around the testicles. The spermatic cords contain blood vessels, nerves, and a duct, called the spermatic duct, that carries sperm from the testicles to the penis. In females, the round ligaments, which support the uterus, pass through the inguinal canals.
To diagnose RTA, doctors check the acid-base balance in blood and urine samples. If the blood is more acidic than it should be and the urine less acidic than it should be, RTA may be the reason, but additional information is needed to rule out other causes. If RTA is the reason, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has. In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.
Although stroke is a disease of the brain, it can affect the entire body. A common disability that results from stroke is complete paralysis on one side of the body, called hemiplegia. A related disability that is not as debilitating as paralysis is one-sided weakness or hemiparesis. Stroke may cause problems with thinking, awareness, attention, learning, judgment, and memory. Stroke survivors often have problems understanding or forming speech. A stroke can lead to emotional problems. Stroke patients may have difficulty controlling their emotions or may express inappropriate emotions. Many stroke patients experience depression. Stroke survivors may also have numbness or strange sensations. The pain is often worse in the hands and feet and is made worse by movement and temperature changes, especially cold temperatures. Recurrent stroke is frequent; about 25 percent of people who recover from their first stroke will have another stroke within 5 years.
Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). As the name implies, people with ataxia neuropathy spectrum typically have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). The neuropathy can be classified as sensory, motor, or a combination of the two (mixed). Sensory neuropathy causes numbness, tingling, or pain in the arms and legs, and motor neuropathy refers to disturbance in the nerves used for muscle movement. Most people with ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures. Some affected individuals have weakness of the external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness.
How might a pilomatrixoma be treated? Pilomatrixomas are usually surgically removed (excised). In most cases, the tumors do not grow back (recur) after surgery, unless the removal was incomplete.
Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. DDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles. In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of DDEB may include dystrophic or absent nails, constipation, dental caries and swallowing problems. It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner. Treatment typically includes treating blisters and avoiding infection.
Summary : As parents, we want to keep our children safe from harm. Take steps to keep your children safe: - Install the right child safety seat in your car - Teach children how to cross the street safely - Make sure they wear the right gear and equipment for sports - Install and test smoke alarms - Store medicines, cleaners and other dangerous substances in locked cabinets - Babyproof your home - Don't leave small children unattended
There is no treatment for Todd's paralysis. Individuals must rest as comfortably as possible until the paralysis disappears.
People who experience smell disorders either have a decrease in their ability to smell or changes in the way they perceive odors. Total smell loss is relatively rare, but a decrease in the sense of smell occurs more often, especially in older adults. There are several types of smell disorders depending on how the sense of smell is affected. - Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. - Other people can't detect odor at all, which is called anosmia. - Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. - Still others may perceive a smell that isn't present at all, which is called phantosmia. - Smell loss due to aging is called presbyosmia. Some people have hyposmia, which occurs when their ability to detect certain odors is reduced. Other people can't detect odor at all, which is called anosmia. Sometimes a loss of smell can be accompanied by a change in the perception of odors. This type of smell disorder is called dysosmia. Familiar odors may become distorted, or an odor that usually smells pleasant instead smells foul. Still others may perceive a smell that isn't present at all, which is called phantosmia. Smell loss due to aging is called presbyosmia.
Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.
Mutations in the ABHD5 gene cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) the ATGL enzyme, which breaks down triglycerides. Triglycerides are the main source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. ABHD5 gene mutations impair the protein's ability to activate the ATGL enzyme. An inactive enzyme makes the breakdown of triglycerides impossible, causing them to accumulate in tissues throughout the body. The buildup of triglycerides results in the signs and symptoms of Chanarin-Dorfman syndrome.
Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. Some people with diabetes, however, have no symptoms at all.
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. 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 an adult produces each day. Children produce less urine each day; the amount produced depends on their age. 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. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.
Progressive external ophthalmoplegia is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA or mtDNA. Progressive external ophthalmoplegia can result from mutations in several different genes. In some cases, mutations in the MT-TL1 gene, which is located in mtDNA, cause progressive external ophthalmoplegia. In other cases, mutations in nuclear DNA are responsible for the condition, particularly mutations in the POLG, SLC25A4, and C10orf2 genes. These genes are critical for mtDNA maintenance. Although the mechanism is unclear, mutations in any of these three genes lead to large deletions of mtDNA, ranging from 2,000 to 10,000 DNA building blocks (nucleotides). Researchers have not determined how deletions of mtDNA lead to the specific signs and symptoms of progressive external ophthalmoplegia, although the features of the condition are probably related to impaired oxidative phosphorylation. It has been suggested that eye muscles are commonly affected by mitochondrial defects because they are especially dependent on oxidative phosphorylation for energy.
What are the signs and symptoms of Priapism? The Human Phenotype Ontology provides the following list of signs and symptoms for Priapism. 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 - Priapism - 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.
Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males. Incontinentia pigmenti is characterized by skin abnormalities that evolve throughout childhood and young adulthood. Many affected infants have a blistering rash at birth and in early infancy, which heals and is followed by the development of wart-like skin growths. In early childhood, the skin develops grey or brown patches (hyperpigmentation) that occur in a swirled pattern. These patches fade with time, and adults with incontinentia pigmenti usually have lines of unusually light-colored skin (hypopigmentation) on their arms and legs. Other signs and symptoms of incontinentia pigmenti can include hair loss (alopecia) affecting the scalp and other parts of the body, dental abnormalities (such as small teeth or few teeth), eye abnormalities that can lead to vision loss, and lined or pitted fingernails and toenails. Most people with incontinentia pigmenti have normal intelligence; however, this condition may affect the brain. Associated problems can include delayed development or intellectual disability, seizures, and other neurological problems.
Foodborne illnesses are infections or irritations of the gastrointestinal (GI) tract caused by food or beverages that contain harmful bacteria, parasites, viruses, or chemicals. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. Common symptoms of foodborne illnesses include vomiting, diarrhea, abdominal pain, fever, and chills. Most foodborne illnesses are acute, meaning they happen suddenly and last a short time, and most people recover on their own without treatment. Rarely, foodborne illnesses may lead to more serious complications. Each year, an estimated 48 million people in the United States experience a foodborne illness. Foodborne illnesses cause about 3,000 deaths in the United States annually.1
What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known.
The prognosis for individuals with Parry-Romberg syndrome varies. In some cases, the atrophy ends before the entire face is affected. In mild cases, the disorder usually causes no disability other than cosmetic effects.
The exact incidence of MPS VI is unknown, although it is estimated to occur in 1 in 250,000 to 600,000 newborns.
What are the symptoms of retroperitoneal fibrosis? Early symptoms of retroperitoneal fibrosis may include: Dull pain in the abdomen that increases with time Swelling of one leg Decreased circulation in the legs leading to pain and discoloration Late symptoms of retroperitoneal fibrosis may include: Decreased urine output Total lack of urine (anuria) Nausea, vomiting, changes in thinking caused by kidney failure and the resulting build-up of toxic chemicals in the blood. Severe abdominal pain with hemorrhage due to ischemic bowel
Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors don't know why a person gets non-Hodgkin lymphoma. You are at increased risk if you have a weakened immune system or have certain types of infections. Non-Hodgkin lymphoma can cause many symptoms, such as - Swollen, painless lymph nodes in the neck, armpits or groin - Unexplained weight loss - Fever - Soaking night sweats - Coughing, trouble breathing or chest pain - Weakness and tiredness that don't go away - Pain, swelling or a feeling of fullness in the abdomen Your doctor will diagnose lymphoma with a physical exam, blood tests, a chest x-ray, and a biopsy. Treatments include chemotherapy, radiation therapy, targeted therapy, biological therapy, or therapy to remove proteins from the blood. Targeted therapy uses substances that attack cancer cells without harming normal cells. Biologic therapy boosts your body's own ability to fight cancer. If you don't have symptoms, you may not need treatment right away. This is called watchful waiting. NIH: National Cancer Institute
Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.
Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals.
What are the symptoms of gamma heavy chain disease? The severity of symptoms varies widely among people with gamma heavy chain disease. Symptoms include, fever, mild anemia, difficulty swallowing (dysphagia), recurrent upper respiratory infections, and enlarged liver and spleen (hepatosplenomegaly).
How might Swyer-James syndrome be treated? Individuals with Swyer-James syndrome reportedly have been treated conservatively in the past. However, although there are few reports published, it has been recognized that surgical treatment should be considered when infections cannot be controlled. There have been reports of affected individuals being treated with pneumonectomy (removal of a lung), lobectomy (removal of one or more lobes of a lung) or segmentectomy (removal of a specific segment). It has been proposed that individuals with Swyer-James syndrome may benefit from lung volume reduction surgery (LVRS), a procedure in which damaged tissue is removed from the lung. LVRS was reportedly performed successfully in an individual with Swyer-James syndrome, and it has been suggested that the procedure could be used for managing the condition in other affected individuals because it has shown to be effective for improving pulmonary function and symptoms.
Type A insulin resistance syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bloodstream. This binding triggers signaling pathways that influence many cell functions. Most of the INSR gene mutations that cause type A insulin resistance syndrome lead to the production of a faulty insulin receptor that cannot transmit signals properly. Although insulin is present in the bloodstream, the defective receptors make it less able to exert its effects on cells and tissues. This severe resistance to the effects of insulin impairs blood sugar regulation and leads to diabetes mellitus. In females with type A insulin resistance syndrome, excess insulin in the bloodstream interacts with hormonal factors during adolescence to cause abnormalities of the menstrual cycle, ovarian cysts, and other features of the disorder. This condition is designated as type A to distinguish it from type B insulin resistance syndrome. Although the two disorders have similar signs and symptoms, type B is not caused by INSR gene mutations; instead, it results from an abnormality of the immune system that blocks insulin receptor function.
These resources address the diagnosis or management of isolated Duane retraction syndrome: - Gene Review: Gene Review: Duane Syndrome - Genetic Testing Registry: Duane's syndrome - MedlinePlus Encyclopedia: Extraocular Muscle Function Testing These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor. Ewing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause. It is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow.
How is Fryns syndrome inherited? Although the exact cause of Fryns syndrome is not currently known (and no disease-causing gene has yet been identified), it is thought to be genetic because it tends to "run in families" and has features common to other genetic disorders. It appears to be inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell of the body (one copy inherited from each parent) have mutations. The parents of an affected individual are referred to as carriers, who 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.
Mutations in the PYGL gene cause GSDVI. The PYGL gene provides instructions for making an enzyme called liver glycogen phosphorylase. This enzyme is found only in liver cells, where it breaks down glycogen into a type of sugar called glucose-1-phosphate. Additional steps convert glucose-1-phosphate into glucose, a simple sugar that is the main energy source for most cells in the body. PYGL gene mutations prevent liver glycogen phosphorylase from breaking down glycogen effectively. As a result, liver cells cannot use glycogen for energy. Since glycogen cannot be broken down, it accumulates within liver cells, causing these cells to become enlarged and dysfunctional.
Caring for someone who has Alzheimer's disease (AD) can be stressful and overwhelming. It's important to take care of yourself. Ask for and accept help. Talk to the doctor. Find out what treatments might help control symptoms or address behavior problems. Find a support group. Others who have "been there" may be able to help and will understand. If there are times of day that the person is less confused or more cooperative, take advantage of that in daily routines. Consider using adult day care or respite services. These offer a break with the peace of mind that the patient is being taken care of. Begin to plan for the future. This may include - Getting financial and legal documents in order - Looking into assisted living or nursing homes - Finding out what your health insurance and Medicare will cover NIH: National Institute on Aging
These resources address the diagnosis or management of HLRCC: - Gene Review: Gene Review: Hereditary Leiomyomatosis and Renal Cell Cancer - Genetic Testing Registry: Hereditary leiomyomatosis and renal cell cancer - MedlinePlus Encyclopedia: Renal Cell Carcinoma These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1.
What causes primary familial brain calcification (PFBC)? PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found.
Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include - Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots - Anemia, which happens when your blood does not carry enough oxygen to the rest of your body - Cancers of the blood, such as leukemia and myeloma - Eosinophilic disorders, which are problems with one type of white blood cell.
These resources address the diagnosis or management of nephronophthisis: - Genetic Testing Registry: Adolescent nephronophthisis - Genetic Testing Registry: Infantile nephronophthisis - Genetic Testing Registry: Nephronophthisis - Genetic Testing Registry: Nephronophthisis 1 - Genetic Testing Registry: Nephronophthisis 11 - Genetic Testing Registry: Nephronophthisis 12 - Genetic Testing Registry: Nephronophthisis 14 - Genetic Testing Registry: Nephronophthisis 15 - Genetic Testing Registry: Nephronophthisis 16 - Genetic Testing Registry: Nephronophthisis 18 - Genetic Testing Registry: Nephronophthisis 4 - Genetic Testing Registry: Nephronophthisis 7 - Genetic Testing Registry: Nephronophthisis 9 - Merck Manual Professional Edition 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 symptoms of Lambert-Eaton myasthenic syndrome? Signs and symptoms of Lambert-Eaton myasthenic syndrome may include: Weakness or loss of movement that varies in severity: Difficulty climbing stairs Difficulty lifting objects Need to use hands to arise from sitting or lying positions Difficulty talking Difficulty chewing Drooping head Swallowing difficulty, gagging, or choking Vision changes: Blurry vision Double vision Difficulty maintaining a steady gaze Other symptoms may include blood pressure changes, dizziness upon rising, and dry mouth
These resources address the diagnosis or management of Li-Fraumeni syndrome: - Gene Review: Gene Review: Li-Fraumeni Syndrome - Genetic Testing Registry: Li-Fraumeni syndrome - Genetic Testing Registry: Li-Fraumeni syndrome 1 - Genetic Testing Registry: Li-Fraumeni syndrome 2 - MedlinePlus Encyclopedia: Cancer - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes 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
Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.
These resources address the diagnosis or management of SCA1: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 1 - Genetic Testing Registry: Spinocerebellar ataxia 1 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
Eating, diet, and nutrition have not been shown to play a role in causing or preventing lupus nephritis. People with kidney disease that progresses may need to talk with a health care provider about changes they may need to make to their diet. People with lupus nephritis and high blood pressure may benefit from reducing sodium intake, often from salt. More information about nutrition in people with kidney disease is provided in the NIDDK health topics, Nutrition for Early Chronic Kidney Disease in Adults and Nutrition for Advanced Chronic Kidney Disease in Adults.
Essential tremor is a common disorder, affecting up to 10 million people in the United States. Estimates of its prevalence vary widely because several other disorders, as well as other factors such as certain medications, can result in similar tremors. In addition, mild cases are often not brought to medical attention, or may not be detected in clinical exams that do not include the particular circumstances in which an individual's tremor occurs. Severe cases are often misdiagnosed as Parkinson disease.
These resources address the diagnosis or management of benign essential blepharospasm: - Benign Essential Blepharospasm Research Foundation: Botulinum Toxin for Treatment of Blepharospasm - Dystonia Medical Research Foundation: Treatments for dystonia - Genetic Testing Registry: Blepharospasm - MedlinePlus Encyclopedia: Eyelid Twitch 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 Hyperprolinemia type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperprolinemia type 2. 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 - Hydroxyprolinuria - Hyperglycinuria - Hyperprolinemia - Intellectual disability - Prolinuria - Seizures - 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 LAMM syndrome: - Gene Review: Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - Genetic Testing Registry: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) 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