umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Spastic paraplegia 11 ?

Answer: Spastic paraplegia 11 is a form of hereditary spastic paraplegia. People with spastic paraplegia 11 experience progressive muscle stiffness and eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms. The tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in individuals with this condition. Spastic paraplegia 11 is caused by mutations in the SPG11 gene and is passed through families in an autosomal recessive fashion.
Question: How to diagnose Pars planitis ?

Answer: How is pars planitis diagnosed? Pars planitis is typically diagnosed based on a specialized eye examination. During the exam, the ophthalmologist will typically see clusters of white blood cells trapped within the eyeball that are called snowballs (or "inflammatory exudate"). If these clusters are located on the pars plana, they are known as snowbanks. Snowbanks are considered a "hallmark" sign of pars planitis. It is often recommended that people over age 25 with pars planitis have an MRI of their brain and spine to rule out multiple sclerosis.
Question: What causes Sarcoidosis ?

Answer: What causes sarcoidosis? No one yet knows what causes sarcoidosis. It is thought by most scientists to be a disorder of the immune system, where the body's natural defense system malfunctions. Some physicians believe that sarcoidosis may result from a respiratory infection caused by a virus. Others suspect that exposure to toxins or allergens in the environment is to blame. It's also possible that some people have a genetic predisposition to developing sarcoidosis, which, when combined with an environmental trigger, produces the disease. Studies are ongoing to investigate the genetic and environmental components of this disease.
Question: Is Epidermolysis bullosa acquisita inherited ?

Answer: Is epidermolysis bullosa acquisita inherited? Unlike the genetic forms of epidermolysis bullosa, epidermolysis bullosa acquisita (EBA) is considered an acquired, sporadic disease. This means that it generally occurs in people with no history of the condition in their families. There have been a couple of reports of families with more than one affected person, suggesting a genetic component may be involved. This could mean that EBA may develop in a person who is "genetically susceptible." However, the condition is not thought to be due to any specific gene(s).
Question: What is (are) Subacute cerebellar degeneration ?

Answer: Subacute cerebellar degeneration is the breakdown of the area of the brain that controls muscle coordination and balance (the cerebellum). Less commonly, the area connecting the spinal cord to the brain is involved. Subacute cerebellar degeneration may occur in association with a cancer (paraneoplastic cerebellar degeneration) or lack of thiamine (alcoholic or nutritional cerebellar degeneration). Signs and symptoms may include ataxia, speech and swallowing problems, dementia, vision problems, and vertigo.
Question: What is (are) Konigsmark Knox Hussels syndrome ?

Answer: Konigsmark Knox Hussels syndrome is an inherited condition that causes both hearing and vision loss. This condition is characterized by late-onset progressive sensorineural deafness and progressive optic atrophy, which results in mildly reduced visual acuity. Some affected individuals can develop ophthalmoplegia (paralysis of the muscles that control eye movements), ptosis, ataxia, and non-specific myopathy in middle age. This condition is caused by a particular mutation in the OPA1 gene and is inerited in an autosomal dominant fashion.
Question: What are the treatments for Kienbock's disease ?

Answer: What nonsurgical options are available for the treatment of Kienbock's disease? The primary means of nonsurgical treatment of Kienbock's disease involve immobilization and anti-inflammatory medications. The wrist may be immobilized through splinting or casting over a period of two to three weeks. Anti-inflammatory medications, such as aspirin or ibuprofen, can help to relieve pain and reduce swelling. If the pain continues after these conservative treatments, your physician may refer you to an orthopaedic or hand surgeon for further evaluation.
Question: What is (are) Alopecia totalis ?

Answer: Alopecia totalis (AT) is a condition characterized by the complete loss of hair on the scalp. It is an advanced form of alopecia areata a condition that causes round patches of hair loss. Although the exact cause of AT is unknown, it is thought to be an autoimmune condition in which the immune system mistakenly attacks the hair follicles. Roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of AT. There is currently no cure for AT, but sometimes hair regrowth occurs on it's own, even after many years.
Question: What is (are) Primary orthostatic tremor ?

Answer: Primary orthostatic tremor is a movement disorder characterized by rhythmic muscle contractions that occur in the legs and trunk immediately after standing. It may be perceived more as an unsteadiness than an actual tremor. The tremor may disappear or improve when a person is sitting or walking. Over time, the tremors may become more severe, affecting quality of life and causing increasing disability. In some cases, primary orthostatic tremor may occur with other movement disorders. Individuals with primary orthostatic tremor may be treated with clonazepam and primidone. The cause of this condition is unknown.
Question: Is IBIDS syndrome inherited ?

Answer: What causes Tay syndrome? How is it inherited? Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern , which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for Tay syndrome, their children have a 25% chance of being affected with Tay syndrome. Additionally, each child has a 50% chance of being an unaffected carrier, like their parents, and a 25% chance of being a non-carrier.
Question: What is (are) Tay-Sachs disease ?

Answer: Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells. Tay-Sachs disease is inherited in an autosomal recessive pattern.
Question: Is Fatal familial insomnia inherited ?

Answer: How is fatal familial insomnia inherited? Fatal familial insomnia (FFI) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with FFI has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Question: How to diagnose Parasites - Lice - Pubic "Crab" Lice ?

Answer: Pubic lice are short and crab-like and appear very different from head and body lice. Pubic lice infestation is diagnosed by finding a “crab” louse or eggs on hair in the pubic region or, less commonly, elsewhere on the body (eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk, scalp). Although pubic lice and nits can be large enough to be seen with the naked eye, a magnifying lens may be necessary to find lice or eggs.
Question: What are the treatments for Parasites - Fascioliasis (Fasciola Infection) ?

Answer: The first step is to make sure the diagnosis is correct. For more information, patients should consult their health care provider. Health care providers may consult with CDC staff about the diagnosis and treatment of fascioliasis.
    
The drug of choice is triclabendazole. In the United States, this drug is available through CDC, under a special (investigational) protocol. The drug is given by mouth, usually in one or two doses. Most people respond well to the treatment.
    
More on: Resources for Health Professionals: Treatment
Question: What is the outlook for Arteriovenous Malformation ?

Answer: The greatest potential danger posed by AVMs is hemorrhage. Most episodes of bleeding remain undetected at the time they occur because they are not severe enough to cause significant neurological damage. But massive, even fatal, bleeding episodes do occur. Whenever an AVM is detected, the individual should be carefully and consistently monitored for any signs of instability that may indicate an increased risk of hemorrhage. Individuals who are treated require brain imaging afterwards to evaluate if the AVM has been completely removed or destroyed. The risk of hemorrhage remains if some of the AVM persists despite treatment.
Question: What is the outlook for Reye's Syndrome ?

Answer: Recovery from RS is directly related to the severity of the swelling of the brain. Some people recover completely, while others may sustain varying degrees of brain damage. Those cases in which the disorder progresses rapidly and the patient lapses into a coma have a poorer prognosis than those with a less severe course. Statistics indicate that when RS is diagnosed and treated in its early stages, chances of recovery are excellent. When diagnosis and treatment are delayed, the chances for successful recovery and survival are severely reduced. Unless RS is diagnosed and treated successfully, death is common, often within a few days.
Question: What is the outlook for Agenesis of the Corpus Callosum ?

Answer: Prognosis depends on the extent and severity of malformations. Intellectual impairment does not worsen. Individuals with a disorder of the corpus callosum typically have delays in attaining developmental milestones such as walking, talking, or reading; challenges with social interactions; clumsiness and poor motor coordination, particularly on skills that require coordination of left and right hands and feet (such as swimming, bicycle riding, and driving; and mental and social processing problems that become more apparent with age, with problems particularly evident from junior high school into adulthood.
Question: What are the treatments for focal dermal hypoplasia ?

Answer: These resources address the diagnosis or management of focal dermal hypoplasia:  - Gene Review: Gene Review: Focal Dermal Hypoplasia  - Genetic Testing Registry: Focal dermal hypoplasia  - MedlinePlus Encyclopedia: Ectodermal dysplasia  - MedlinePlus Encyclopedia: Omphalocele   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 autosomal dominant hyper-IgE syndrome ?

Answer: These resources address the diagnosis or management of autosomal dominant hyper-IgE syndrome:  - Gene Review: Gene Review: Autosomal Dominant Hyper IgE Syndrome  - Genetic Testing Registry: Hyperimmunoglobulin E syndrome  - MedlinePlus Encyclopedia: Hyperimmunoglobulin E syndrome   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What are the treatments for ADCY5-related dyskinesia ?

Answer: These resources address the diagnosis or management of ADCY5-related dyskinesia:  - Gene Review: Gene Review: ADCY5-Related Dyskinesia  - Genetic Testing Registry: Dyskinesia, familial, with facial myokymia  - National Ataxia Foundation: Movement Disorder Clinics   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 craniofacial microsomia ?

Answer: These resources address the diagnosis or management of craniofacial microsomia:  - Children's Hospital and Medical Center of the University of Nebraska  - Gene Review: Gene Review: Craniofacial Microsomia Overview  - Genetic Testing Registry: Goldenhar syndrome  - Seattle Children's Hospital  - Virginia Commonwealth University   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 Jervell and Lange-Nielsen syndrome ?

Answer: These resources address the diagnosis or management of Jervell and Lange-Nielsen syndrome:  - Gene Review: Gene Review: Jervell and Lange-Nielsen Syndrome  - Genetic Testing Registry: Jervell and Lange-Nielsen syndrome  - MedlinePlus Encyclopedia: Arrhythmias   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 familial isolated hyperparathyroidism ?

Answer: These resources address the diagnosis or management of familial isolated hyperparathyroidism:  - Cleveland Clinic: Hyperparathyroidism  - Gene Review: Gene Review: CDC73-Related Disorders  - Genetic Testing Registry: Hyperparathyroidism 1  - MedlinePlus Encyclopedia: Hyperparathyroidism   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 core binding factor acute myeloid leukemia ?

Answer: These resources address the diagnosis or management of core binding factor acute myeloid leukemia:  - Fred Hutchinson Cancer Research Center  - Genetic Testing Registry: Acute myeloid leukemia  - National Cancer Institute: Acute Myeloid Leukemia Treatment  - St. Jude Children's Research Hospital   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 oculodentodigital dysplasia ?

Answer: These resources address the diagnosis or management of oculodentodigital dysplasia:  - Genetic Testing Registry: Oculodentodigital dysplasia  - MedlinePlus Encyclopedia: Webbing of the fingers or toes  - UC Davis Children's Hospital: Cleft and Craniofacial Reconstruction   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 DICER1 syndrome ?

Answer: These resources address the diagnosis or management of DICER1 syndrome:  - Cancer.Net from the American Society of Clinical Oncology: Pleuropulmonary Blastoma--Childhood Treatment  - Gene Review: Gene Review: DICER1-Related Disorders  - Genetic Testing Registry: Pleuropulmonary blastoma   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 leukoencephalopathy with vanishing white matter ?

Answer: These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter:  - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter  - Genetic Testing Registry: Leukoencephalopathy with vanishing white matter   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 renal hypouricemia ?

Answer: These resources address the diagnosis or management of renal hypouricemia:  - Genetic Testing Registry: Familial renal hypouricemia  - Genetic Testing Registry: Renal hypouricemia 2  - KidsHealth from Nemours: Blood Test: Uric Acid  - MedlinePlus Encyclopedia: Uric Acid--Blood   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What to do for Gallstones ?

Answer: Factors related to eating, diet, and nutrition that increase the risk of gallstones include
                
- obesity   - rapid weight loss   - diets high in calories and refi ned carbohydrates and low in fi ber
                
People can decrease their risk of gallstones by maintaining a healthy weight through proper diet and nutrition.
                
Ursodiol can help prevent gallstones in people who rapidly lose weight through low-calorie diets or bariatric surgery. People should talk with their health care provider or dietitian about what diet is right for them.
Question: Who is at risk for Pituitary Tumors? ?

Answer: Having certain genetic conditions increases the risk of developing a pituitary tumor.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 doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for pituitary tumors include having the following hereditary diseases:         -  Multiple endocrine neoplasia type 1 (MEN1) syndrome.    -  Carney complex.    - Isolated familial acromegaly.
Question: What are the treatments for Blue rubber bleb nevus syndrome ?

Answer: How might blue rubber bleb nevus syndrome be treated? Treatment of blue rubber bleb nevus syndrome varies depending on the severity and location of the affected areas. Skin spots do not usually require treatment, but some individuals with this condition may want treatment for cosmetic reasons or if the location of the nevus causes discomfort or affects normal function. Bleeding in the intestines may be treated with iron supplements and blood transfusions when necessary. Surgery to remove an affected area of bowel may be recommended for repeated or severe bleeding (hemorrhage).
Question: How to diagnose Klebsiella infection ?

Answer: How are Klebsiella infections diagnosed? Klebsiella infections are usually diagnosed by examining a small sample of blood, mucus, and/or urine. Chest x-rays or positron emission tomography (PET scan) may also be used to further evaluate infections that affect the lungs such as community-acquired pneumonia. When a Klebsiella infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of Klebsiella bacteria.
Question: What is (are) Dystonia 8 ?

Answer: Paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include 1 to 4 hour long episodes of irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement.  The familial form is caused by mutations in the PNKD gene and is inherited in an autosomal dominant pattern.
Question: What are the treatments for Partington syndrome ?

Answer: How might Partington syndrome be treated? The treatment of Partington syndrome is based on the signs and symptoms present in each person. For example, dystonia of the hands and other parts of the body may be treated with a variety of therapies including medications and/or physical therapy. Speech therapy may be recommended for children with dysarthria. Medications may be prescribed to help prevent and/or control recurrent seizures. Children with mild to moderate intellectual disability may benefit from special education services. For personalized information about the treatment and management of Partington syndrome, please speak to a healthcare provider.
Question: What are the treatments for Schizencephaly ?

Answer: How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. Medications are often prescribed to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
Question: What is (are) Menetrier disease ?

Answer: Mntrier disease is a condition characterized by inflammation and ulcers of the mucosa (inner lining) of the stomach and by overgrowth of the cells that make up the mucosa. The condition is associated with the following signs: protein loss from the stomach, excessive mucus production, and hypochlorhydria (low levels of stomach acid) or achlorhydia (absent levels of stomach acid).   Symptoms usually include vomiting, diarrhea, and weight loss. The disease may increase an individual's risk of developing stomach cancer.
Question: What is (are) X-linked dominant scapuloperoneal myopathy ?

Answer: X-linked scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. In some individuals, facial muscles may also be affected. While the progression varies from case to case, it tends to be relatively slow. Some cases of scapuloperoneal myopathy are caused by mutations in the FHL1 gene. These cases are inherited in an X-linked dominant manner. Treatment is symptomatic and supportive.
Question: Is Doyne honeycomb retinal dystrophy inherited ?

Answer: How is Doyne honeycomb retinal dystrophy inherited? Doyne honeycomb retinal dystrophy (DHRD) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition.  When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. Children who do not inherit the mutated gene will not develop or pass on the disease.
Question: What is (are) Hailey-Hailey disease ?

Answer: Hailey-Hailey disease is a hereditary blistering skin disease. Signs and symptoms include a painful rash and blistering in skin folds such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating and friction. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner. Treatment focuses on reducing symptoms and preventing flares.