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What are the symptoms of Lethal short limb skeletal dysplasia Al Gazali type ? | What are the signs and symptoms of Lethal short limb skeletal dysplasia Al Gazali type? The Human Phenotype Ontology provides the following list of signs and symptoms for Lethal short limb skeletal dysplasia Al Gazali type. If the information is available, the table below includes how often the symptom is seen in peopl... | [
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Do you have information about Organ Donation | Summary : Organ donation takes healthy organs and tissues from one person for transplantation into another. Experts say that the organs from one donor can save or help as many as 50 people. Organs you can donate include - Internal organs: Kidneys, heart, liver, pancreas, intestines, lungs - Skin - Bone an... | [
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What are the symptoms of Schneckenbecken dysplasia ? | What are the signs and symptoms of Schneckenbecken dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Schneckenbecken dysplasia. 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 M... | [
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What are the symptoms of White sponge nevus of cannon ? | What are the signs and symptoms of White sponge nevus of cannon? The Human Phenotype Ontology provides the following list of signs and symptoms for White sponge nevus of cannon. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | [
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What is (are) Marinesco-Sjgren syndrome ? | Marinesco-Sjgren syndrome is a condition that has a variety of signs and symptoms affecting many tissues. People with Marinesco-Sjgren syndrome have clouding of the lens of the eyes (cataracts) that usually develops soon after birth or in early childhood. Affected individuals also have muscle weakness (myopathy) and di... | [
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What is (are) Chromosome 8p deletion ? | Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of ... | [
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How many people are affected by CHARGE syndrome ? | CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 individuals. | [
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What are the treatments for Filippi syndrome ? | How might Filippi syndrome be treated? The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. ... | [
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How to prevent Problems with Taste ? | Problems with taste that occur with aging cannot be prevented. However you may be able to protect yourself against other causes of taste loss with these steps. - Prevent upper respiratory infections such as colds and the flu. Wash your hands frequently, especially during the winter months, and get a flu shot every year... | [
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What are the treatments for Overweight and Obesity ? | Successful weight-loss treatments include setting goals and making lifestyle changes, such as eating fewer calories and being physically active. Medicines and weight-loss surgery also are options for some people if lifestyle changes aren't enough.
Set Realistic Goals
Setting realistic ... | [
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What are the treatments for 8p11 myeloproliferative syndrome ? | These resources address the diagnosis or management of 8p11 myeloproliferative syndrome: - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options - Cancer.Net from the American S... | [
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What is (are) Polycystic Kidney Disease ? | Polycystic kidney disease is a genetic disorder that causes numerous cysts to grow in the kidneys. A kidney cyst is an abnormal sac filled with fluid. PKD cysts can greatly enlarge the kidneys while replacing much of their normal structure, resulting in chronic kidney disease (CKD), which causes reduced kidney function... | [
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What are the treatments for Feingold syndrome ? | These resources address the diagnosis or management of Feingold syndrome: - Gene Review: Gene Review: Feingold Syndrome 1 - Genetic Testing Registry: Feingold syndrome 1 - Genetic Testing Registry: Feingold syndrome 2 - MedlinePlus Encyclopedia: Duodenal Atresia - MedlinePlus Encyclopedia: Esophageal Atresia - Me... | [
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How to diagnose Problems with Taste ? | Doctors can diagnose a taste disorder by measuring the lowest concentration of a substance that a person can detect. The doctor may also ask a patient to compare the tastes of different substances or to note how the intensity of a taste grows when a substance's concentration is increased. Scientists have developed tast... | [
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What is (are) Hennekam syndrome ? | Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. The characteristic signs and symptoms of... | [
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What is (are) Sydenham Chorea ? | Sydenham chorea (SD) is a neurological disorder of childhood resulting from infection via Group A beta-hemolytic streptococcus (GABHS), the bacterium that causes rheumatic fever. SD is characterized by rapid, irregular, and aimless involuntary movements of the arms and legs, trunk, and facial muscles. It affects girls ... | [
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How to diagnose Bile Duct Cancer (Cholangiocarcinoma) ? | Tests that examine the bile ducts and nearby organs are used to detect (find), diagnose, and stage bile duct cancer. Procedures that make pictures of the bile ducts and the nearby area help diagnose bile duct cancer and show how far the cancer has spread. The process used to find out if cancer cells have spread within ... | [
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What are the genetic changes related to Erdheim-Chester disease ? | More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder. The BRAF gene provides instructions for making a protein that helps transmit chemical signals from outside the cell to the cell's nucleus. This pro... | [
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What are the symptoms of Balance Problems ? | If you have a balance disorder, you may stagger when you try to walk, or teeter or fall when you try to stand up. You might experience other symptoms such as - dizziness or vertigo (a spinning sensation) - falling or feeling as if you are going to fall - lightheadedness, faintness, or a floating sensation - blur... | [
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What are the symptoms of Shingles ? | A week or two after the blisters erupt, the oozing sores will begin to crust over. The sores are usually gone after another two weeks. The pain usually decreases over the next few weeks, but some patients may have pain for months -- sometimes, for years. | [
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Is tetrasomy 18p inherited ? | Tetrasomy 18p is usually not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Most affected individuals have no history of the disorder in their family.... | [
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Who is at risk for Breast Cancer? ? | What Is Cancer Prevention? Cancer prevention is action taken to lower the chance of getting cancer. By preventing cancer, the number of new cases of cancer in a group or population is lowered. Hopefully, this will lower the number of deaths caused by cancer. When studying ways to prevent cancer, scientists look at risk... | [
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What is (are) Chanarin-Dorfman syndrome ? | Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually pr... | [
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How to diagnose Paget's Disease of Bone ? | An Underdiagnosed Disease Experts believe that Paget's disease is underdiagnosed; people with a mild case and no symptoms may never know they have the disease. Or, they may receive a diagnosis by accident when x-rays or other laboratory tests done for another reason reveal Paget's disease. When symptoms do occur, they ... | [
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Who is at risk for Gout? ? | These risk factors are associated with gout. - Genetics. Many people with gout have a family history of the disease. - Gender and age. Gout is more common in men than in women and more common in adults than in children. - Weight. Being overweight increases the risk of developing gout because there is more tissue a... | [
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How to diagnose Dopa-responsive dystonia ? | How is dopa-responsive dystonia diagnosed? Dopa-responsive dystonia (DRD) is diagnosed based on the signs and symptoms present, results of laboratory tests (sometimes including genetic testing), and response to therapy with levodopa. If DRD is suspected, a therapeutic trial with low doses of levodopa remains the most p... | [
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What are the genetic changes related to spinocerebellar ataxia type 2 ? | Mutations in the ATXN2 gene cause SCA2. The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm), where it appears to interact with a cell structure called the endoplasmic re... | [
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Is Dentatorubral-pallidoluysian atrophy inherited ? | How is dentatorubral-pallidoluysian atrophy (DRPLA) inherited? | [
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What is (are) Tooth Disorders ? | Your teeth are made of a hard, bonelike material. Inside the tooth are nerves and blood vessels. You need your teeth for many activities you may take for granted. These include eating, speaking and even smiling. But tooth disorders are nothing to smile about. They include problems such as cavities (also known as tooth ... | [
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What are the treatments for X-linked adrenal hypoplasia congenita ? | These resources address the diagnosis or management of X-linked adrenal hypoplasia congenita: - Gene Review: Gene Review: X-Linked Adrenal Hypoplasia Congenita - Genetic Testing Registry: Congenital adrenal hypoplasia, X-linked - MedlinePlus Encyclopedia: Adrenal Glands - MedlinePlus Encyclopedia: Hypogonadotropic ... | [
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What are the symptoms of Achondrogenesis type 1A ? | What are the signs and symptoms of Achondrogenesis type 1A? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis type 1A. 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 Medic... | [
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What is (are) Papillary renal cell carcinoma ? | Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projecti... | [
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Who is at risk for Smoking and the Digestive System? ? | Smoking has been found to increase the risk of cancers of the3
- mouth - esophagus - stomach - pancreas
3
,
4
,
5
- liver - colon - rectum
More information about the link between ... | [
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Do you have information about Men's Health | Summary : Most men need to pay more attention to their health. Compared to women, men are more likely to - Smoke and drink - Make unhealthy or risky choices - Put off regular checkups and medical care There are also health conditions that only affect men, such as prostate cancer and low testosterone. ... | [
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Is hypomagnesemia with secondary hypocalcemia inherited ? | 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. | [
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How many people are affected by familial thoracic aortic aneurysm and dissection ? | Familial TAAD is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that are not inherited, such as damage to the walls of the aorta from aging, tobacco use, injury, or disease. While aortic aneurysm... | [
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How many people are affected by Rett syndrome ? | This condition affects an estimated 1 in 8,500 females. | [
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What is (are) Pigmented purpuric eruption ? | Pigmented purpuric eruption is a condition that causes reddish-brown skin lesions, most commonly on the lower legs. In some cases, the skin lesions cause severe itching. The skin lesions may spread over time, or clear up on their own. The cause of pigmented purpuric eruption is unknown. | [
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What is the outlook for Cerebral Hypoxia ? | Recovery depends on how long the brain has been deprived of oxygen and how much brain damage has occurred, although carbon monoxide poisoning can cause brain damage days to weeks after the event. Most people who make a full recovery have only been briefly unconscious. The longer someone is unconscious, the higher the c... | [
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Is Troyer syndrome inherited ? | 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. | [
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How to diagnose Treatment Methods for Kidney Failure: Hemodialysis ? | About once a month, your dialysis care team will test your blood by using one of two formulasURR or Kt/Vto see whether your treatments are removing enough wastes. Both tests look at one specific waste product, called blood urea nitrogen (BUN), as an indicator for the overall level of waste products in your system. For ... | [
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What are the genetic changes related to Prader-Willi syndrome ? | Prader-Willi syndrome is caused by the loss of function of genes in a particular region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are turned on (active) only on the copy that is inherited from a person's father (the paternal copy). This parent-specific gene activ... | [
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What are the symptoms of Ornithine transcarbamylase deficiency ? | What are the signs and symptoms of Ornithine transcarbamylase deficiency? Ornithine transcarbamylase (OTC) deficiency often becomes evident in the first few days of life. An infant with OTC deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperatu... | [
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What causes Hearing Loss ? | Hearing loss can result from taking certain medications. "Ototoxic" medications damage the inner ear, sometimes permanently. Check with your doctor if you notice a problem while taking a medication. | [
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What is the outlook for Neurotoxicity ? | The prognosis depends upon the length and degree of exposure and the severity of neurological injury. In some instances, exposure to neurotoxicants can be fatal. In others, patients may survive but not fully recover. In other situations, many individuals recover completely after treatment. | [
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What are the treatments for Warthin tumor ? | How might Warthin tumor be treated? Treatment of Warthin tumor generally includes surgery to remove the tumor or careful observation to watch for changes in the tumor over time. Because Warthin tumor is almost always benign, additional treatment (i.e. radiation therapy and/or chemotherapy) is rarely needed. | [
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How to prevent Diabetes ? | The two most common forms of diabetes are type 1 and type 2. Currently, there is no way to delay or prevent type 1 diabetes. However, research has shown that type 2 diabetes can be prevented or delayed in people at risk for the disease. Preventing type 2 diabetes can mean a healthier and longer life without serious com... | [
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What are the symptoms of Ovarian Low Malignant Potential Tumors ? | Signs and symptoms of ovarian low malignant potential tumor include pain or swelling in the abdomen.Ovarian low malignant potential tumor may not cause early signs or symptoms. If you do have signs or symptoms, they may include the following: - Pain or swelling in the abdomen. - Pain in the pelvis. - Gas... | [
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What is (are) Pearson marrow-pancreas syndrome ? | Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered ... | [
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What is (are) Larsen syndrome ? | Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. They generall... | [
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What is (are) Alagille Syndrome ? | The digestive system is made up of the gastrointestinal (GI) tractalso called the digestive tractand the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, ... | [
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How many people are affected by hereditary sensory and autonomic neuropathy type II ? | HSAN2 is a rare disease; however, the prevalence is unknown. | [
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What is (are) Fainting ? | Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may "white out" or "black out." Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. Fainting usually happens when your blood pressure d... | [
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What are the symptoms of Pyruvate decarboxylase deficiency ? | What are the signs and symptoms of Pyruvate decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | [
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How many people are affected by systemic lupus erythematosus ? | For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. It is most common in younger women... | [
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Is early-onset glaucoma inherited ? | Early-onset glaucoma can have different inheritance patterns. Primary congenital glaucoma is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mut... | [
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How to diagnose Glycogen storage disease type 13 ? | How is glycogen storage disease type 13 diagnosed? Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells. Genetic testing can also be done to look for changes (mutations) in the ENO3 gene. | [
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What are the treatments for Absence of the Septum Pellucidum ? | Absence of the SP alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia or other developmental anomalies. | [
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What are the treatments for phosphoglycerate dehydrogenase deficiency ? | These resources address the diagnosis or management of phosphoglycerate dehydrogenase deficiency: - Genetic Testing Registry: Phosphoglycerate dehydrogenase deficiency - Seattle Children's Hospital: Epilepsy Symptoms and Diagnosis These resources from MedlinePlus offer information about the diagnosis and management... | [
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What is (are) Insomnia ? | Insomnia is a common sleep disorder. If you have it, you may have trouble falling asleep, staying asleep, or both. As a result, you may get too little sleep or have poor-quality sleep. You may not feel refreshed when you wake up. Symptoms of insomnia include: - Lying awake for a long time before you fall aslee... | [
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How many people are affected by spondyloepimetaphyseal dysplasia, Strudwick type ? | This condition is rare; only a few affected individuals have been reported worldwide. | [
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What is (are) Porphyria ? | Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system... | [
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Is Leukoencephalopathy with vanishing white matter inherited ? | How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one m... | [
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What causes Hyperthyroidism ? | Hyperthyroidism has several causes, including
- Graves disease - thyroid nodules - thyroiditis, or inflammation of the thyroid - consuming too much iodine - overmedicating with synthetic thyroid hormone, which is used to treat underactive thyroid
Rarely, hyperthyroidism is caused b... | [
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What is (are) Diagnosis of Diabetes and Prediabetes ? | Diabetes is a complex group of diseases with a variety of causes. People with diabetes have high blood glucose, also called high blood sugar or hyperglycemia.
Diabetes is a disorder of metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and star... | [
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Do you have information about Heart Surgery | Summary : Heart surgery can correct problems with the heart if other treatments haven't worked or can't be used. The most common type of heart surgery for adults is coronary artery bypass grafting (CABG). During CABG, a healthy artery or vein from the body is connected, or grafted, to a blocked coronary (heart) artery.... | [
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Is Turner syndrome inherited ? | Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent. An error in cell division called nondisjunction can result in reproductive cells... | [
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What are the treatments for Heart Attack ? | After a heart attack, many people worry about having another heart attack. They often feel depressed and may have trouble adjusting to a new lifestyle. You should discuss your feelings with your doctor. Your doctor can give you medication for anxiety or depression and may recommend professional counseling. Spend time w... | [
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What is (are) congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips... | [
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What is (are) Encephalitis lethargica ? | Encephalitis lethargica is a disease characterized by high fever, headache, double vision, delayed physical and mental response, extreme tiredness (lethargy), and sometimes coma. Patients may also experience abnormal eye movements, upper body weakness, muscule pain, tremors, neck rigidity, and behavioral changes includ... | [
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What is the outlook for Ovarian Low Malignant Potential Tumors ? | Certain factors affect prognosis (chance of recovery) and treatment options.The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the disease (whether it affects part of the ovary, involves the whole ovary, or has spread to other places in the body). - What type of... | [
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What are the treatments for Atrial Fibrillation ? | Treatment for atrial fibrillation (AF) depends on how often you have symptoms, how severe they are, and whether you already have heart disease. General treatment options include medicines, medical procedures, and lifestyle changes.
Goals of Treatment
The goals of treating AF include:
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What is (are) Familial hemiplegic migraine type 3 ? | Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and m... | [
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What is (are) familial exudative vitreoretinopathy ? | Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to t... | [
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What are the treatments for Branchiootorenal syndrome ? | How might branchiootorenal syndrome be treated? Hereditary hearing loss conditions, in general, tend to be managed by a team that includes an otolaryngologist, an audiologist, a clinical geneticist, a pediatrician, sometimes an educator of the Deaf, a neurologist, and in case of branchiootorenal syndrome, a nephrologis... | [
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How many people are affected by D-bifunctional protein deficiency ? | D-bifunctional protein deficiency is estimated to affect 1 in 100,000 newborns. | [
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How many people are affected by medium-chain acyl-CoA dehydrogenase deficiency ? | In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. The condition is more common in people of northern European ancestry than in other ethnic groups. | [
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What is (are) Occipital Neuralgia ? | Occipital neuralgia is a distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side of the head. Typically, the pain of occipital neuralgia begins in the neck and then spreads upwards. Some individuals... | [
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Do you have information about Nursing Homes | Summary : A nursing home is a place for people who don't need to be in a hospital but can't be cared for at home. Most nursing homes have nursing aides and skilled nurses on hand 24 hours a day. Some nursing homes are set up like a hospital. The staff provides medical care, as well as physical, speech and occupatio... | [
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What is (are) Primary gastrointestinal melanoma ? | Primary melanoma of the gastrointestinal (GI) tract refers to a melanoma starting in the stomach, intestines, salivary glands, mouth, esophagus, liver, pancreas, gallbladder, or rectum. Melanoma is a disease in which malignant (cancer) cells form in the melanocytes. Melanocytes are commonly found in the skin and are th... | [
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What are the treatments for Restless Legs Syndrome ? | Restless legs syndrome (RLS) has no cure. If a condition or medicine triggers RLS, it may go away or get better if the trigger is relieved or stopped.
RLS can be treated. The goals of treatment are to:
Prevent or relieve symptoms
Increase the amount of sleep you're get... | [
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Do you have information about HIV/AIDS Medicines | Summary : In the early 1980s, when the HIV/AIDS epidemic began, patients rarely lived longer than a few years. But today, there are many effective medicines to fight the infection, and people with HIV have longer, healthier lives. There are five major types of medicines: - Reverse transcriptase (RT) inhibitors... | [
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What causes Blue rubber bleb nevus syndrome ? | What causes blue rubber bleb nevus syndrome? Currently the cause of blue rubber bleb syndrome is not known. | [
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What is (are) craniofacial-deafness-hand syndrome ? | Craniofacial-deafness-hand syndrome is characterized by distinctive facial features, profound hearing loss, and hand abnormalities. The distinctive facial features of people with craniofacial-deafness-hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected in... | [
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What are the treatments for Progressive bulbar palsy ? | How is progressive bulbar palsy treated? Treatments aim to help people cope with the symptoms of progressive bulbar palsy, such as feeding tubes, devices to help with talking, and medicines to treat muscle spasms, weakness, drooling, sleep problems, pain, and depression. The Robert Packard Center for ALS Research at Jo... | [
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What are the symptoms of Akesson syndrome ? | What are the signs and symptoms of Akesson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Akesson 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 ... | [
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What is the outlook for Narcolepsy ? | None of the currently available medications enables people with narcolepsy to consistently maintain a fully normal state of alertness. But EDS and cataplexy, the most disabling symptoms of the disorder, can be controlled in most patients with drug treatment. Often the treatment regimen is modified as symptoms change. W... | [
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What are the treatments for Disseminated Intravascular Coagulation ? | Treatment for disseminated intravascular coagulation (DIC) depends on its severity and cause. The main goals of treating DIC are to control bleeding and clotting problems and treat the underlying cause.
Acute Disseminated Intravascular Coagulation
People who have acute DIC may have sev... | [
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Is infantile-onset spinocerebellar ataxia inherited ? | 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. | [
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What are the treatments for microcephalic osteodysplastic primordial dwarfism type II ? | These resources address the diagnosis or management of MOPDII: - Genetic Testing Registry: Microcephalic osteodysplastic primordial dwarfism type 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Re... | [
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Is Congenital radio-ulnar synostosis inherited ? | How is congenital radio-ulnar synostosis inherited? Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases. This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated gene may occur for the first time in an... | [
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What are the genetic changes related to Aicardi-Goutieres syndrome ? | Mutations in the TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 genes have been identified in people with Aicardi-Goutieres syndrome. The TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes provide instructions for making nucleases, which are enzymes that help break up molecules of DNA and its chemical cousin RNA. Mutation... | [
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What is (are) Urea cycle disorders ? | A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a ... | [
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What are the symptoms of SHORT syndrome ? | What are the signs and symptoms of SHORT syndrome? SHORT syndrome is a disorder that affects multiple parts of the body. It is mainly characterized by several features that are represented by the acronym SHORT: (S) short stature; (H) hyperextensible joints (joints that stretch more than usual) and/or hernia (inguinal);... | [
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What are the genetic changes related to mandibulofacial dysostosis with microcephaly ? | MFDM is caused by mutations in the EFTUD2 gene. This gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosom... | [
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How to diagnose Stargardt disease ? | Is genetic testing available for Stargardt disease? Yes. Genetic testing may help distinguish the type of Stargardt disease a person has, and provide information about the mode of inheritance and risks to other family members. The Genetic Testing Registry (GTR) provides information about the genetic tests available for... | [
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What are the treatments for Erb-Duchenne and Dejerine-Klumpke Palsies ? | Some brachial plexus injuries may heal without treatment. Many children who are injured during birth improve or recover by 3 to 4 months of age. Treatment for brachial plexus injuries includes physical therapy and, in some cases, surgery. | [
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What are the genetic changes related to intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ? | IMAGe syndrome is caused by mutations in the CDKN1C gene. This gene provides instructions for making a protein that helps control growth before birth. The mutations that cause IMAGe syndrome alter the structure and function of the CDKN1C protein, which inhibits normal growth starting in the early stages of development ... | [
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Is Bloom syndrome inherited ? | 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. | [
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what research (or clinical trials) is being done for Colorectal Cancer ? | Cancer prevention clinical trials are used to study ways to prevent cancer.
Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increa... | [
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