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How to diagnose Andersen-Tawil syndrome ? | Is genetic testing available for Andersen-Tawil syndrome? Yes, the Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contac... | [
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What to do for Cyclic Vomiting Syndrome ? | During the prodrome and vomiting phases of cyclic vomiting syndrome, a person will generally take in little or no nutrition by mouth. During the recovery phase, the person may be quite hungry as soon as the vomiting stops. As eating resumes, a person or his or her family should watch for the return of nausea. In some c... | [
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what research (or clinical trials) is being done for Dysgraphia ? | The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dysgraphia research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to treat, and ultimately, prevent dysgraph... | [
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What are the genetic changes related to Sheldon-Hall syndrome ? | Sheldon-Hall syndrome can be caused by mutations in the MYH3, TNNI2, TNNT3, or TPM2 gene. These genes provide instructions for making proteins that are involved in muscle tensing (contraction). Muscle contraction occurs when thick filaments made of proteins called myosins slide past thin filaments made of proteins cal... | [
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What are the treatments for type A insulin resistance syndrome ? | These resources address the diagnosis or management of type A insulin resistance syndrome: - Genetic Testing Registry: Insulin-resistant diabetes mellitus AND acanthosis nigricans These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... | [
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What are the symptoms of Donnai-Barrow syndrome ? | What are the signs and symptoms of Donnai-Barrow syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Donnai-Barrow 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... | [
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What is (are) X-linked visceral heterotaxy 1 ? | X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen ... | [
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What is (are) What I need to know about Kidney Failure and How Its Treated ? | Hemodialysis is a treatment for kidney failure that is done in a center several times per week. Some people learn to do hemodialysis in their homes. Hemodialysis uses a machine to filter your blood when your kidneys are too sick to filter any more. With hemodialysis, your blood is filtered outside of your body. Unfilte... | [
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What are the genetic changes related to 2q37 deletion syndrome ? | 2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder are probabl... | [
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What are the symptoms of Kallmann syndrome ? | What are the signs and symptoms of Kallmann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kallmann 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 Dictionar... | [
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What are the symptoms of Von Hippel-Lindau disease ? | What are the signs and symptoms of Von Hippel-Lindau disease? Symptoms of Von Hippel-Lindau (VHL) disease vary among patients and depend on the size and location of the tumors. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia)... | [
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How to diagnose Adult Primary Liver Cancer ? | Tests that examine the liver and the blood are used to detect (find) and diagnose adult primary liver cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything e... | [
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What is (are) Oxygen Therapy ? | Oxygen therapy is a treatment that provides you with extra oxygen, a gas that your body needs to work well. Normally, your lungs absorb oxygen from the air. However, some diseases and conditions can prevent you from getting enough oxygen.
Oxygen therapy may help you function better and be more active. ... | [
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What are the treatments for Alcohol Use and Older Adults ? | Most people with alcohol problems can be treated successfully. People with an alcohol use disorder and those who misuse alcohol and cannot stay within healthy drinking limits should stop drinking altogether. Others can cut back until their drinking is under control. Changing drinking habits isnt easy. Often it takes mo... | [
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What are the complications of Ulcerative Colitis ? | Complications of ulcerative colitis can include
- rectal bleedingwhen ulcers in the intestinal lining open and bleed. Rectal bleeding can cause anemia, which health care providers can treat with diet changes and iron supplements. People who have a large amount of bleeding in the intestine over a short ... | [
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What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ? | If you have advanced chronic kidney disease (CKD), you may soon need treatment to do the work your kidneys can no longer do. Learning about your treatment options for kidney failure will help you make the best choice for you. Each treatment has pros and cons. Your choice of treatment will have a big effect on your dail... | [
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Who is at risk for Alkhurma Hemorrhagic Fever (AHF)? ? | Contact with livestock with tick exposure are risk factors for humans, as is contact with infected ticks, whether through crushing the infected tick with unprotected fingers or by a bite from an infected tick. Slaughtering of animals which may acutely but asymptomatically infected may also be a risk factor, as it is p... | [
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Is ophthalmo-acromelic 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 are the symptoms of Multiple sclerosis ? | What are the signs and symptoms of Multiple sclerosis? The peak age of onset is between ages 20 and 40, although it may develop in children and has also been identified in individuals over 60 years of age. The most common signs and symptoms include sensory disturbance of the limbs; partial or complete visual loss; acut... | [
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What are the treatments for Syncope ? | The immediate treatment for an individual who has fainted involves checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isnt possible, have the individual sit forward and lower their head below... | [
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What are the treatments for cystinuria ? | These resources address the diagnosis or management of cystinuria: - Genetic Testing Registry: Cystinuria - MedlinePlus Encyclopedia: Cystinuria - MedlinePlus Encyclopedia: Cystinuria (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diag... | [
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What is (are) Diagnosis of Diabetes and Prediabetes ? | Prediabetes is when blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes means a person is at increased risk for developing type 2 diabetes, as well as for heart disease and stroke. Many people with prediabetes develop type 2 diabetes within 10 years.
... | [
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what research (or clinical trials) is being done for Problems with Smell ? | The National Institute on Deafness and Other Communication Disorders (NIDCD) supports basic and clinical investigations of smell and taste disorders at its laboratories in Bethesda, Md. and at universities and chemosensory research centers across the country. These chemosensory scientists are exploring how to - promote... | [
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What are the treatments for nail-patella syndrome ? | These resources address the diagnosis or management of nail-patella syndrome: - Gene Review: Gene Review: Nail-Patella Syndrome - Genetic Testing Registry: Nail-patella syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests -... | [
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What are the symptoms of Mannosidosis, beta A, lysosomal ? | What are the signs and symptoms of Mannosidosis, beta A, lysosomal? The Human Phenotype Ontology provides the following list of signs and symptoms for Mannosidosis, beta A, lysosomal. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | [
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What are the symptoms of Atypical Chronic Myelogenous Leukemia ? | Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak. These and other signs and symptoms may be caused by atypical CML or by other conditions. Check with your doctor if you have any of the following: - Shortness of breath. - Pale skin. - ... | [
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What is (are) Vernal keratoconjunctivitis ? | Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affects the surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name "vernal") and summer but often reoccur in the winter. Signs and symptoms usually begin ... | [
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What are the symptoms of Alagille Syndrome ? | The signs and symptoms of Alagille syndrome and their severity vary, even among people in the same family sharing the same gene mutation.
Liver
In some people, problems in the liver may be the first signs and symptoms of the disorder. These signs and symptoms can occur in children and ... | [
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Who is at risk for Pancreatic Neuroendocrine Tumors (Islet Cell Tumors)? ? | Having certain syndromes can increase the risk of pancreatic NETs. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be... | [
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What are the treatments for Binswanger's disease ? | How is Binswanger's disease treated? The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. Successful manag... | [
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What is (are) Marden-Walker syndrome ? | Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized s... | [
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What causes Von Willebrand Disease ? | Von Willebrand disease (VWD) is almost always inherited. "Inherited" means that the disorder is passed from parents to children though genes.
You can inherit type 1 or type 2 VWD if only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the... | [
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What is (are) Sudden Cardiac Arrest ? | Sudden cardiac arrest (SCA) is a condition in which the heart suddenly and unexpectedly stops beating. If this happens, blood stops flowing to the brain and other vital organs.
SCA usually causes death if it's not treated within minutes.
Overview
To understand SCA, it ... | [
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What are the symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism ? | What are the signs and symptoms of Muscular dystrophy, congenital, infantile with cataract and hypogonadism? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy, congenital, infantile with cataract and hypogonadism. If the information is available, the table below inclu... | [
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Do you have information about Medication Errors | Summary : Medicines cure infectious diseases, prevent problems from chronic diseases, and ease pain. But medicines can also cause harmful reactions if not used correctly. Errors can happen in the hospital, at the doctor's office, at the pharmacy, or at home. You can help prevent errors by - Knowing your medicines... | [
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What are the treatments for COPD ? | Bronchodilators and inhaled steroids are two medications used to treat COPD. Bronchodilators work by relaxing the muscles around the airways, opening them and making it easier to breathe. People with mild COPD take bronchodilators using an inhaler only when needed. Those with moderate or severe COPD may need more regul... | [
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What are the symptoms of Cortisone reductase deficiency ? | What are the signs and symptoms of Cortisone reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Cortisone reductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med... | [
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What is (are) Viral Infections ? | Viruses are capsules with genetic material inside. They are very tiny, much smaller than bacteria. Viruses cause familiar infectious diseases such as the common cold, flu and warts. They also cause severe illnesses such as HIV/AIDS, smallpox and hemorrhagic fevers. Viruses are like hijackers. They invade living, no... | [
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Is neuromyelitis optica inherited ? | Neuromyelitis optica is usually not inherited. Rarely, this condition is passed through generations in families, but the inheritance pattern is unknown. | [
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What is the outlook for Oxygen Therapy ? | During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away.
Otherwise, your doctor will decide whether you need oxygen therapy based on test results. An arterial blood gas test and a pulse oximetry test can meas... | [
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Do you have information about Antioxidants | Summary : Antioxidants are man-made or natural substances that may prevent or delay some types of cell damage. Antioxidants are found in many foods, including fruits and vegetables. They are also available as dietary supplements. Examples of antioxidants include - Beta-carotene - Lutein - Lycopene -... | [
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How many people are affected by hypomagnesemia with secondary hypocalcemia ? | Hypomagnesemia with secondary hypocalcemia is thought to be a rare condition, but its prevalence is unknown. | [
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What is (are) Wolf-Hirschhorn syndrome ? | Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad, flat... | [
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How to diagnose Prostate Cancer ? | Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that see... | [
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How many people are affected by eosinophil peroxidase deficiency ? | Approximately 100 individuals with eosinophil peroxidase deficiency have been described in the scientific literature. Based on blood test data, varying estimates of the prevalence of the condition have been reported in specific populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in 1,000 Yemenite... | [
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Do you have information about Nutritional Support | Summary : Nutritional support is therapy for people who cannot get enough nourishment by eating or drinking. You may need it if you - Can't swallow - Have problems with your appetite - Are severely malnourished - Can't absorb nutrients through your digestive system You receive nutritional support ... | [
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How to prevent Balance Problems ? | Scientists are working to understand the complex interactions between the brain and the part of the inner ear responsible for balance. They are also studying the effectiveness of certain exercises as a treatment option for balance disorders. An NIDCD-supported clinical trial in benign paroxysmal positioning vertigo (BP... | [
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How many people are affected by CHST3-related skeletal dysplasia ? | The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 affected individuals have been reported. | [
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What are the treatments for MPV17-related hepatocerebral mitochondrial DNA depletion syndrome ? | These resources address the diagnosis or management of MPV17-related hepatocerebral mitochondrial DNA depletion syndrome: - Gene Review: Gene Review: MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome - Genetic Testing Registry: Navajo neurohepatopathy - The United Mitochondrial Disease Foundation: Tr... | [
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What is (are) Myelodysplastic/myeloproliferative disease ? | Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells. These disease have features of both myelodysplastic syndromes and myeloproliferative disorders. In myelodysplastic diseases, the blood stem cells do not mature int... | [
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What are the genetic changes related to dopa-responsive dystonia ? | Mutations in the GCH1 gene are the most common cause of dopa-responsive dystonia. Less often, mutations in the TH or SPR gene cause this condition. The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase. This enzyme is involved in the first of three steps in the production of a molecule cal... | [
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What are the symptoms of Paget disease of bone ? | What are the signs and symptoms of Paget disease of bone? The Human Phenotype Ontology provides the following list of signs and symptoms for Paget disease of bone. 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 D... | [
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What is the outlook for Gallbladder Cancer ? | Certain factors affect the prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (whether the cancer has spread from the gallbladder to other places in the body). - Whether the cancer can be completel... | [
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What are the symptoms of Glucocorticoid-remediable aldosteronism ? | What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. If the information is available, the table below includes how often the symptom is seen in people with this condition. Y... | [
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What are the genetic changes related to Cushing disease ? | The genetic cause of Cushing disease is often unknown. In only a few instances, mutations in certain genes have been found to lead to Cushing disease. These genetic changes are called somatic mutations. They are acquired during a person's lifetime and are present only in certain cells. The genes involved often play a r... | [
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What are the stages of Oropharyngeal Cancer ? | Key Points
- After oropharyngeal cancer has been diagnosed, tests are done to find out if cancer cells have spread within the oropharynx or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. ... | [
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What are the symptoms of Kawasaki syndrome ? | What are the signs and symptoms of Kawasaki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kawasaki 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 Dictionar... | [
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What is (are) Carnitine-acylcarnitine translocase deficiency ? | Carnitine-acylcarnitine translocase deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce e... | [
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How many people are affected by anhidrotic ectodermal dysplasia with immune deficiency ? | The prevalence of the X-linked recessive type of EDA-ID is estimated to be 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have been described in the scientific literature. | [
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Is Asperger syndrome inherited ? | Autism spectrum disorders including Asperger syndrome have a tendency to run in families, but the inheritance pattern is unknown. | [
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What are the symptoms of Your Guide to Diabetes: Type 1 and Type 2 ? | The signs and symptoms of diabetes are
- being very thirsty - urinating often - feeling very hungry - feeling very tired - losing weight without trying - sores that heal slowly - dry, itchy skin - feelings of pins and needles in your feet - losing feeling in your feet - blurry eyesight
... | [
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What are the treatments for Coronary Microvascular Disease ? | Relieving pain is one of the main goals of treating coronary microvascular disease (MVD). Treatments also are used to control risk factors and other symptoms. Treatments may include medicines, such as:
ACE inhibitors and beta blockers to lower blood pressure and decrease the hearts workload
... | [
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What are the treatments for Norrie disease ? | These resources address the diagnosis or management of Norrie disease: - Gene Review: Gene Review: NDP-Related Retinopathies - Genetic Testing Registry: Atrophia bulborum hereditaria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tes... | [
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What are the genetic changes related to leptin receptor deficiency ? | Leptin receptor deficiency is caused by mutations in the LEPR gene. This gene provides instructions for making a protein called the leptin receptor, which is involved in the regulation of body weight. The leptin receptor protein is found on the surface of cells in many organs and tissues of the body including a part of... | [
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How to diagnose Parasites - Lice - Head Lice ? | Misdiagnosis of head lice infestation is common. The diagnosis of head lice infestation is best made by finding a live nymph or adult louse on the scalp or hair of a person.
Because adult and nymph lice are very small, move quickly, and avoid light, they may be difficult to find. Use of a fine-toothed louse comb m... | [
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How many people are affected by harlequin ichthyosis ? | Harlequin ichthyosis is very rare; its exact incidence is unknown. | [
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What causes Hereditary cerebral hemorrhage with amyloidosis ? | What causes hereditary cerebral hemorrhage with amyloidosis - Dutch type? The clinical symptoms of hereditary cerebral hemorrhage with amyloidosis - Dutch type are caused by the build-up of a protein called amyloid within the arterial walls of the brain. This protein build-up causes bleeding into the brain. The symptom... | [
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What is (are) Chromosome 4q deletion ? | Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of t... | [
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What are the symptoms of 15q13.3 microdeletion syndrome ? | What are the signs and symptoms of 15q13.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 15q13.3 microdeletion 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 Med... | [
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What is (are) Urinary Tract Infection In Adults ? | The urinary tract is the body's drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of ... | [
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What are the symptoms of National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? | CJD does not cause the same symptoms in everyone. In most people who got CJD from pituitary hGH, the first signs they noticed were difficulty with walking and balance, dizziness, and/or clumsiness. Later, some began to slur words and have jerky movements. They also had trouble seeing, remembering, and/or thinking clear... | [
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What is (are) Pelizaeus-Merzbacher Disease ? | Pelizaeus-Merzbacher disease (PMD) is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fat... | [
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How many people are affected by familial glucocorticoid deficiency ? | The prevalence of familial glucocorticoid deficiency is unknown. | [
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How to diagnose Kidney Stones in Adults ? | To diagnose kidney stones, the health care provider will perform a physical exam and take a medical history. The medical history may include questions about family history of kidney stones, diet, GI problems, and other diseases and disorders. The health care provider may perform urine, blood, and imaging tests, such as... | [
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What is (are) Severe intellectual disability-progressive spastic diplegia syndrome ? | Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial... | [
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What are the genetic changes related to Pallister-Hall syndrome ? | Mutations in the GLI3 gene cause Pallister-Hall syndrome. The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 pr... | [
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How many people are affected by GM2-gangliosidosis, AB variant ? | The AB variant is extremely rare; only a few cases have been reported worldwide. | [
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What causes Lung Cancer ? | Some studies suggest that non-smokers who are exposed to environmental tobacco smoke, also called secondhand smoke, are at increased risk of lung cancer. Secondhand smoke is the smoke that non-smokers are exposed to when they share air space with someone who is smoking. Tobacco smoke contains more than 7,000 chemicals,... | [
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Is Buschke Ollendorff syndrome inherited ? | How is Buschke Ollendorff syndrome inherited? Buschke Ollendorff syndrome (BOS) is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. This means that only one changed (mutated) copy of the gene in each cell is sufficient for a person to be affected by the condition. An affected indi... | [
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What are the symptoms of Osteomesopyknosis ? | What are the signs and symptoms of Osteomesopyknosis? Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers. Height and intellect are not affected. Life expectancy in ... | [
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What are the genetic changes related to craniofacial-deafness-hand syndrome ? | Craniofacial-deafness-hand syndrome is caused by mutations in the PAX3 gene. The PAX3 gene plays a critical role in the formation of tissues and organs during embryonic development. To perform this function, the gene provides instructions for making a protein that attaches (binds) to specific areas of DNA to help contr... | [
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What are the treatments for cytogenetically normal acute myeloid leukemia ? | These resources address the diagnosis or management of cytogenetically normal acute myeloid leukemia: - Fred Hutchinson Cancer Research Center - National Cancer Institute: Acute Myeloid Leukemia Treatment - St. Jude Children's Research Hospital These resources from MedlinePlus offer information about the diagnosis... | [
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What is (are) Book syndrome ? | Book syndrome is a very rare type of ectodermal dysplasia. Signs and symptoms include premolar aplasia (when the premolars fail to develop); excessive sweating (hyperhidrosis); and premature graying of the hair. Other features that have been reported in only one person include a narrow palate (roof of the mouth); hypop... | [
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Is FOXG1 syndrome inherited ? | FOXG1 syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All reported cases have resulted from new mutations or deletions involving the FOXG1 gene and have occurred in people with no history of the disorder in their family. ... | [
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What causes Prescription and Illicit Drug Abuse ? | Medications affect older people differently than younger people because aging changes how the body and brain handle these substances. As we age, our bodies change and cannot break down and get rid of substances as easily as before. This means that even a small amount of a medicine or a drug can have a strong effect. If... | [
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What are the genetic changes related to alpha-methylacyl-CoA racemase deficiency ? | AMACR deficiency is caused by mutations in the AMACR gene. This gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR). The AMACR enzyme is found in the energy-producing centers in cells (mitochondria) and in cell structures called peroxisomes. Peroxisomes contain a variety of enz... | [
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What are the symptoms of Cardiomyopathy ? | Some people who have cardiomyopathy never have signs or symptoms. Others don't have signs or symptoms in the early stages of the disease.
As cardiomyopathy worsens and the heart weakens, signs and symptoms of heart failure usually occur. These signs and symptoms include:
Shortness of b... | [
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what research (or clinical trials) is being done for Fabry Disease ? | The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.The NINDS supports research to find ways to treat and prevent lipid storage diseases such as Fabry... | [
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What are the treatments for myopathy with deficiency of iron-sulfur cluster assembly enzyme ? | These resources address the diagnosis or management of myopathy with deficiency of iron-sulfur cluster assembly enzyme: - Gene Review: Gene Review: Myopathy with Deficiency of ISCU - Genetic Testing Registry: Myopathy with lactic acidosis, hereditary - MedlinePlus Encyclopedia: Rhabdomyolysis These resources from ... | [
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What are the treatments for congenital myasthenic syndrome ? | These resources address the diagnosis or management of congenital myasthenic syndrome: - Gene Review: Gene Review: Congenital Myasthenic Syndromes - Genetic Testing Registry: CHRNA1-Related Congenital Myasthenic Syndrome - Genetic Testing Registry: Congenital myasthenic syndrome - Genetic Testing Registry: Congenit... | [
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What are the symptoms of Syndromic microphthalmia, type 3 ? | What are the signs and symptoms of Syndromic microphthalmia, type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndromic microphthalmia, type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the... | [
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What is (are) Intellectual disability-developmental delay-contractures syndrome ? | Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired abili... | [
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What are the genetic changes related to Ellis-van Creveld syndrome ? | Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from the EVC and EVC2 genes are thought to help regulate the S... | [
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What are the treatments for mucopolysaccharidosis type I ? | These resources address the diagnosis or management of mucopolysaccharidosis type I: - Baby's First Test - Gene Review: Gene Review: Mucopolysaccharidosis Type I - Genetic Testing Registry: Mucopolysaccharidosis type I - MedlinePlus Encyclopedia: Hurler Syndrome - MedlinePlus Encyclopedia: Mucopolysaccharides - M... | [
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What is (are) Autosomal recessive hyper IgE syndrome ? | Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare primary immunodeficiency syndrome characterized by highly elevated blood levels of immunoglobulin E (IgE), recurrent staphylococcal skin abscesses, and recurrent pneumonia. The same features are also seen in the more frequent autosomal dominant HIES syndro... | [
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What is (are) High Blood Pressure ? | Older adults should limit their sodium (salt) intake to 1,500 mg a day. That's about 2/3 of a teaspoon of salt. Here are tips to reduce salt in your diet. - Buy fresh, plain frozen, or canned with no salt added vegetables. Choose foods packed in water instead of broth or salt. - Use fresh poultry, fish, and lean mea... | [
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What are the treatments for adenosine monophosphate deaminase deficiency ? | These resources address the diagnosis or management of adenosine monophosphate deaminase deficiency: - MedlinePlus Encyclopedia: Muscle aches - MedlinePlus Encyclopedia: Weakness These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests ... | [
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How to prevent Coronary Heart Disease Risk Factors ? | You can prevent and control many coronary heart disease (CHD) risk factors with heart-healthy lifestyle changes and medicines. Examples of risk factors you can control include high blood cholesterol, high blood pressure, and overweight and obesity. Only a few risk factorssuch as age, gender, and family historycant be c... | [
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What is (are) Problems with Taste ? | Taste is the ability to detect different sensations in the mouth, such as sweet or salty. It is part of your body's chemical sensing system. Taste combines with other oral sensations, such as texture, spiciness, temperature, and aroma to produce what is commonly referred to as flavor. | [
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Is xeroderma pigmentosum 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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