umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Restless Legs ?

Answer: Restless legs syndrome (RLS) causes a powerful urge to move your legs. Your legs become uncomfortable when you are lying down or sitting. Some people describe it as a creeping, crawling, tingling, or burning sensation. Moving makes your legs feel better, but not for long. RLS can make it hard to fall asleep and stay asleep.    In most cases, there is no known cause for RLS. In other cases, RLS is caused by a disease or condition, such as anemia or pregnancy. Some medicines can also cause temporary RLS. Caffeine, tobacco, and alcohol may make symptoms worse.    Lifestyle changes, such as regular sleep habits, relaxation techniques, and moderate exercise during the day can help. If those don't work, medicines may reduce the symptoms of RLS.    Most people with RLS also have a condition called periodic limb movement disorder (PLMD). PLMD is a condition in which a person's legs twitch or jerk uncontrollably, usually during sleep. PLMD and RLS can also affect the arms.     NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Cerebral Palsy ?

Answer: Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance and posture. The disorders appear in the first few years of life. Usually they do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have trouble with tasks such as writing or using scissors. Some have other medical conditions, including seizure disorders or mental impairment.      Cerebral palsy happens when the areas of the brain that control movement and posture do not develop correctly or get damaged. Early signs of cerebral palsy usually appear before 3 years of age. Babies with cerebral palsy are often slow to roll over, sit, crawl, smile, or walk. Some babies are born with cerebral palsy; others get it after they are born.      There is no cure for cerebral palsy, but treatment can improve the lives of those who have it. Treatment includes medicines, braces, and physical, occupational and speech therapy.     NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Bone Diseases ?

Answer: Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol.    Bone diseases can make bones easy to break. Different kinds of bone problems include       - Low bone density and osteoporosis, which make your bones weak and more likely to break     - Osteogenesis imperfecta makes your bones brittle     - Paget's disease of bone makes them weak     - Bones can also develop cancer and infections    -  Other bone diseases, which are caused by poor nutrition, genetics, or problems with the rate of bone growth or rebuilding       NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Mesothelioma ?

Answer: The tissue that lines your lungs, stomach, heart, and other organs is called mesothelium. Mesothelioma is a tumor of that tissue. It usually starts in the lungs, but can also start in the abdomen or other organs. It can be benign (not cancer) or malignant (cancer.)    Malignant mesothelioma is a rare but serious type of cancer. Most people who get it have worked on jobs where they inhaled asbestos particles. After being exposed to asbestos, it usually takes a long time for the disease to form.    Symptoms include       - Trouble breathing    - Pain under the rib cage    - Pain, swelling, or lumps in the abdomen    - Weight loss for no known reason       Sometimes it is hard to tell the difference between malignant mesothelioma and lung cancer. Your doctor uses imaging tests and a biopsy to make the diagnosis. Malignant mesothelioma is often found when it is advanced. This makes it harder to treat. Treatment may include surgery, radiation, and/or chemotherapy.    NIH: National Cancer Institute
Question: What is (are) Knee Injuries and Disorders ?

Answer: Your knee joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the knee joint move. When any of these structures is hurt or diseased, you have knee problems. Knee problems can cause pain and difficulty walking.    Knee problems are very common, and they occur in people of all ages. Knee problems can interfere with many things, from participation in sports to simply getting up from a chair and walking. This can have a big impact on your life.    The most common disease affecting the knee is osteoarthritis. The cartilage in the knee gradually wears away, causing pain and swelling.    Injuries to ligaments and tendons also cause knee problems. A common injury is to the anterior cruciate ligament (ACL). You usually injure your ACL by a sudden twisting motion. ACL and other knee injuries are common sports injuries.    Treatment of knee problems depends on the cause. In some cases your doctor may recommend knee replacement.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Brooke-Spiegler syndrome ?

Answer: Brooke-Spiegler syndrome is a condition characterized by multiple skin tumors that develop from structures associated with the skin, such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. The tumors associated with Brooke-Spiegler syndrome are generally benign (noncancerous), but occasionally they may become malignant (cancerous). Individuals with Brooke-Spiegler syndrome are also at increased risk of developing tumors in tissues in other areas, particularly benign or malignant tumors of the salivary or parotid glands and basal cell carcinomas. Brooke-Spiegler syndrome is caused by mutations in the CYLD gene. Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, 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.
Question: What are the treatments for Pityriasis lichenoides chronica ?

Answer: How might pityriasis lichenoides chronica be treated? Pityriasis lichenoides chronica may not always respond to treatment and relapses often occur when treatment is discontinued. If the rash is not causing symptoms, treatment may not be necessary. In cases where treatment is necessary, there are several different therapies available. First-line therapies may include: Sun exposure   Topical steroids  Topical immunomodulators such as tacrolimus or pimecrolimus  Oral antibiotics such as erythromycin and tetracycline  Second-line therapies may include: Phototherapy  artificial ultraviolet radiation treatment with UVB or PUVA  Third-line therapies may include: Systemic steroids Methotrexate  Acitretin Dapsone Ciclosporin For more resistant and severe disease, a combination of the above may be used PubMed, a searchable database of medical literature, lists several journal articles that discuss treatment of pityriasis lichenoides chronica. Click on the link to view abstracts of articles related to this topic.
Question: What is (are) Acute alcohol sensitivity ?

Answer: Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate.[9184] The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.
Question: What is (are) Hemolytic uremic syndrome, atypical, childhood ?

Answer: Hemolytic uremic syndrome, atypical, childhood is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your bodys immune system). Environmental factors include viral or bacterial infections, certain medications (such as anticancer drugs), chronic diseases, cancers, and organ transplantation.  Most cases are sporadic. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Atypical hemolytic-uremic syndrome differs from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and symptoms.
Question: What causes Hemifacial microsomia ?

Answer: What causes hemifacial microsomia? For most people with hemifacial microsomia, the cause is unknown. It is believed that something occurs in the early stages of development, such as a disturbance of the blood supply to the first and second branchial arches in the first 6 to 8 weeks of pregnancy. Studies have suggested multiple possible risk factors for hemifacial microsomia. Environmental risk factors include the use of medications during pregnancy such as Accutane, pseudoephedrine, aspirin, or ibuprofen. Other environmental factors include second trimester bleeding, maternal diabetes, being pregnant with multiples, or the use of assisted reproductive technology. A genetic cause is found in some families, such as a chromosome disorder or a genetic syndrome. Some possible explanations when the cause of hemifacial microsomia is unknown include a very small chromosome deletion or duplication that is not detected, a mutation in an unknown gene, or changes in multiple genes associated with development of the face. It is also possible that a combination of genetic changes and environmental risk factors could cause hemifacial microsomia.
Question: What are the treatments for Familial Mediterranean fever ?

Answer: How might familial Mediterranean fever (FMF) be treated? Currently, there is no known cure for FMF. Physicians can only treat the symptoms of the disease. A common therapy for FMF is daily use of the drug colchicine, a medicine that reduces inflammation. Many people require colchicine for life. This therapy has been successful in preventing attacks of fever in 75 percent of those who take the drug regularly. Over 90 percent of people with FMF demonstrate a marked improvement. Even if colchicine does not prevent the fever attacks, it does prevent the amyloidosis. However, compliance in taking colchicine every day is very important. If a person stops taking the drug, an attack can occur within a few days. Complications of colchicine use can also occur and include muscle weakness (myopathy) and a toxic epidermal necrolysis-like reaction. Since the gene that causes FMF codes for the protein pyrin, researchers hope that by studying how this protein works they will ultimately develop improved treatments for FMF, and possibly for other conditions involving excess inflammation.
Question: What is (are) DICER1-related pleuropulmonary blastoma cancer predisposition syndrome ?

Answer: DICER1-related pleuropulmonary blastoma cancer predisposition syndrome causes a moderately increased risk for certain cancers and tumors. The lungs, kidneys, ovaries, and thyroid are the most commonly involved sites. Pleuropulmonary blastoma is the most commonly associated tumor and often occurs in infants and young children. Cysts in the kidneys (cystic nephroma) are also associated with DICER1 syndrome. These cysts typically develop in childhood, but do not usually cause any health problems. Women with DICER1 syndrome are at an increased risk for Sertoli-Leydig tumors of the ovaries. DICER1 syndrome is also associated with goiter (multiple fluid-filled or solid tumors in the thyroid gland). These goiters typically occur in adulthood and most often do not cause symptoms. This syndrome is caused by mutations in the DICER1 gene. It is passed through families in an autosomal dominant fashion. Affected members in the same family can be very differently affected.
Question: What causes Coccygodynia ?

Answer: What causes coccygodynia? A number of different causes have been associated with coccygodynia. However, the most common cause is a direct fall and injury to the area of the sacrum and coccyx. These types of injuries can occur from various activities, examples include a kick, an injury on a trampoline when one hits the bar or springs that surround the trampoline jumping pad, or from falling from a horse or skis. Another common cause, exclusive to women, is childbirth. The other most common cause of the condition is pregnancy. During the last three months of pregnancy, certain hormones are released in the women's body causing the area between the sacrum and the coccyx to soften and become more mobile. The increased mobility may result in permanent stretching and change and causing inflammation of the tissues surrounding the coccyx. In about one third of all cases of coccygodynia, the cause is unknown. Other less common causes include nerve damage, cysts such as Tarlov cysts, obesity, and a bursitis like condition that can arise in slim patients who have little buttocks fat padding.
Question: What are the treatments for Wilson Disease ?

Answer: WD requires lifelong treatment, generally using drugs that remove excess copper from the body and prevent it from re-accumulating. Zinc, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine are copper chelators that increase urinary excretion of copper; however, both drugs have some side effects. Tetrathiomolybdate is an investigational copper chelating drug with a lower toxicity profile, but it has not been approved by the Food and Drug Administration for the treatment of WD and its long-term safety and effectiveness arent known. A low-copper diet is also recommended, which involves avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. In rare cases where there is severe liver disease, a liver transplant may be needed. Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.
Question: What are the treatments for progressive external ophthalmoplegia ?

Answer: These resources address the diagnosis or management of progressive external ophthalmoplegia:  - Gene Review: Gene Review: Mitochondrial DNA Deletion Syndromes  - Gene Review: Gene Review: POLG-Related Disorders  - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1  - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2  - Genetic Testing Registry: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  - Genetic Testing Registry: Progressive external ophthalmoplegia  - United Mitochondrial Disease Foundation: Diagnosis of Mitochondrial Disease   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
Question: What are the treatments for Diamond-Blackfan anemia ?

Answer: These resources address the diagnosis or management of Diamond-Blackfan anemia:  - Gene Review: Gene Review: Diamond-Blackfan Anemia  - Genetic Testing Registry: Aase syndrome  - Genetic Testing Registry: Diamond-Blackfan anemia  - Genetic Testing Registry: Diamond-Blackfan anemia 10  - Genetic Testing Registry: Diamond-Blackfan anemia 2  - Genetic Testing Registry: Diamond-Blackfan anemia 3  - Genetic Testing Registry: Diamond-Blackfan anemia 4  - Genetic Testing Registry: Diamond-Blackfan anemia 5  - Genetic Testing Registry: Diamond-Blackfan anemia 7  - Genetic Testing Registry: Diamond-Blackfan anemia 8  - Genetic Testing Registry: Diamond-Blackfan anemia 9   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
Question: What are the genetic changes related to nonsyndromic aplasia cutis congenita ?

Answer: Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component; however, the genetic factors are not fully understood. Researchers suggest that genes important for skin growth may be involved. It is thought that impairments of skin growth more commonly affect the skin at the top of the head because that region needs to be able to grow quickly to cover the fast-growing skull of a developing baby.  In some cases, nonsyndromic aplasia cutis congenita is caused by exposure to a drug called methimazole before birth. This medication is given to treat an overactive thyroid gland. Babies whose mothers take this medication during pregnancy are at increased risk of having the condition. In addition, certain viral infections in a pregnant mother can cause the baby to be born with the skin lesions characteristic of nonsyndromic aplasia cutis congenita. Other cases are thought to be caused by injury to the baby during development.
Question: What is (are) autosomal recessive hypotrichosis ?

Answer: Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.  Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.
Question: What are the genetic changes related to hereditary folate malabsorption ?

Answer: The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. PCFT is involved in the process of using energy to move folates across the brush border membrane, a mechanism called active transport. It is also involved in the transport of folates between the brain and the fluid that surrounds it (cerebrospinal fluid).  Mutations in the SLC46A1 gene result in a PCFT protein that has little or no activity. In some cases the mutated protein is not transported to the cell membrane, and so it is unable to perform its function. A lack of functional PCFT impairs the body's ability to absorb folates from food, resulting in the signs and symptoms of hereditary folate malabsorption.
Question: What are the genetic changes related to Carney complex ?

Answer: Mutations in the PRKAR1A gene cause most cases of Carney complex. This gene provides instructions for making one part (subunit) of an enzyme called protein kinase A, which promotes cell growth and division (proliferation). The subunit produced from the PRKAR1A gene, called type 1 alpha, helps control whether protein kinase A is turned on or off.  Most mutations in the PRKAR1A gene that cause Carney complex result in an abnormal type 1 alpha subunit that is quickly broken down (degraded) by the cell. The lack of this subunit causes protein kinase A to be turned on more often than normal, which leads to uncontrolled cell proliferation. The signs and symptoms of Carney complex are related to the unregulated growth of cells in many parts of the body.  Some individuals with Carney complex do not have identified mutations in the PRKAR1A gene. In many of these cases, the disorder is associated with a specific region on the short (p) arm of chromosome 2, designated as 2p16. Researchers have not discovered the gene within this region that is responsible for Carney complex.
Question: What is (are) Muenke syndrome ?

Answer: Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.  Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5 percent of affected individuals have an enlarged head (macrocephaly). People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases. Most people with this condition have normal intellect, but developmental delay and learning disabilities are possible.  The signs and symptoms of Muenke syndrome vary among affected people, and some findings overlap with those seen in other craniosynostosis syndromes. Between 6 percent and 7 percent of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder.
Question: What are the genetic changes related to guanidinoacetate methyltransferase deficiency ?

Answer: Mutations in the GAMT gene cause guanidinoacetate methyltransferase deficiency. The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, guanidinoacetate methyltransferase controls the second step of this process. In this step, creatine is produced from another compound called guanidinoacetate. Creatine is needed for the body to store and use energy properly.  GAMT gene mutations impair the ability of the guanidinoacetate methyltransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of guanidinoacetate methyltransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.