umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Heart Palpitations ?

Answer: Treatment for palpitations depends on their cause. Most palpitations are harmless and often go away on their own. In these cases, no treatment is needed.
                
Avoiding Triggers
                
Your palpitations may be harmless but bothersome. If so, your doctor may suggest avoiding things that trigger them. For examples, your doctor may advise you to:
                
Reduce anxiety and stress. Anxiety and stress (including panic attacks) are a common cause of harmless palpitations. Relaxation exercises, yoga or tai chi, biofeedback or guided imagery, or aromatherapy may help you relax.
                
Avoid or limit stimulants, such as caffeine, nicotine, or alcohol.
                
Avoid illegal drugs, such as cocaine and amphetamines.
                
Avoid medicines that act as stimulants, such as cough and cold medicines and some herbal and nutritional supplements.
                
Treating Medical Conditions That May Cause Palpitations
                
Work with your doctor to control medical conditions that can cause palpitations, such as an overactive thyroid. If you're taking medicine that's causing palpitations, your doctor will try to find a different medicine for you.
                
If your palpitations are caused by an arrhythmia (irregular heartbeat), your doctor may recommend medicines or procedures to treat the problem. For more information, go to the Health Topics Arrhythmia article.
Question: What are the genetic changes related to mandibuloacral dysplasia ?

Answer: The two forms of mandibuloacral dysplasia are caused by mutations in different genes. Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes.  The LMNA gene provides instructions for making two related proteins, lamin A and lamin C. These proteins act as scaffolding (supporting) components of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus and may help regulate the activity of certain genes. Mutations in this gene likely change the structure of lamin A and lamin C.  The lamin A protein (but not lamin C) must be processed within the cell before becoming part of the nuclear envelope. The protein produced from the ZMPSTE24 gene is involved in this processing; it cuts the immature lamin A protein (prelamin A) at a particular location, forming mature lamin A. Mutations in the ZMPSTE24 gene lead to a buildup of prelamin A and a shortage of the mature protein.  Mutations in the LMNA or ZMPSTE24 gene likely disrupt the structure of the nuclear envelope. Researchers are working to understand how these genetic changes result in the signs and symptoms of mandibuloacral dysplasia.
Question: What is (are) X-linked lissencephaly with abnormal genitalia ?

Answer: X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that affects the development of the brain and genitalia. It occurs most often in males.  XLAG is characterized by abnormal brain development that results in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. Individuals without any folds in the brain (agyria) typically have more severe symptoms than people with reduced folds and grooves (pachygyria). Individuals with XLAG may also have a lack of development (agenesis) of the tissue connecting the left and right halves of the brain (corpus callosum). The brain abnormalities can cause severe intellectual disability and developmental delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and feeding difficulties. Starting soon after birth, babies with XLAG have frequent and recurrent seizures (epilepsy). Most children with XLAG do not survive past early childhood.  Another key feature of XLAG in males is abnormal genitalia that can include an unusually small penis (micropenis), undescended testes (cryptorchidism), or external genitalia that do not look clearly male or clearly female (ambiguous genitalia).  Additional signs and symptoms of XLAG include chronic diarrhea, periods of increased blood sugar (transient hyperglycemia), and problems with body temperature regulation.
Question: What is (are) Huntington disease ?

Answer: Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).  Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.  A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.
Question: What are the genetic changes related to vitelliform macular dystrophy ?

Answer: Mutations in the BEST1 and PRPH2 genes cause vitelliform macular dystrophy. BEST1 mutations are responsible for Best disease and for some cases of the adult-onset form of vitelliform macular dystrophy. Changes in the PRPH2 gene can also cause the adult-onset form of vitelliform macular dystrophy; however, less than a quarter of all people with this form of the condition have mutations in the BEST1 or PRPH2 gene. In most cases, the cause of the adult-onset form is unknown.  The BEST1 gene provides instructions for making a protein called bestrophin. This protein acts as a channel that controls the movement of charged chlorine atoms (chloride ions) into or out of cells in the retina. Mutations in the BEST1 gene probably lead to the production of an abnormally shaped channel that cannot properly regulate the flow of chloride. Researchers have not determined how these malfunctioning channels are related to the buildup of lipofuscin in the macula and progressive vision loss.  The PRPH2 gene provides instructions for making a protein called peripherin 2. This protein is essential for the normal function of light-sensing (photoreceptor) cells in the retina. Mutations in the PRPH2 gene cause vision loss by disrupting structures in these cells that contain light-sensing pigments. It is unclear why PRPH2 mutations affect only central vision in people with adult-onset vitelliform macular dystrophy.
Question: What is (are) moyamoya disease ?

Answer: Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese.  Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated.  Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves disease. These individuals are said to have moyamoya syndrome.
Question: What are the genetic changes related to platyspondylic lethal skeletal dysplasia, Torrance type ?

Answer: Platyspondylic lethal skeletal dysplasia, Torrance type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework.  All of the COL2A1 mutations that have been found to cause platyspondylic lethal skeletal dysplasia, Torrance type occur in a region of the protein called the C-propeptide domain. These mutations interfere with the assembly of type II collagen molecules, reducing the amount of this type of collagen in the body. Instead of forming collagen molecules, the abnormal COL2A1 protein builds up in cartilage cells (chondrocytes). These changes disrupt the normal development of bones and other connective tissues, leading to the skeletal abnormalities characteristic of platyspondylic lethal skeletal dysplasia, Torrance type.
Question: What is (are) spinocerebellar ataxia type 3 ?

Answer: Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double vision. People with this condition may experience sleep disorders such as restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a condition characterized by numbness or tingling in the legs accompanied by an urge to move the legs to stop the sensations. REM sleep behavior disorder is a condition in which the muscles are active during the dream (REM) stage of sleep, so an affected person often acts out his or her dreams. These sleep disorders tend to leave affected individuals feeling tired during the day.  Over time, individuals with SCA3 may develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle cramps, muscle twitches (fasciculations), and swallowing difficulties. Individuals with SCA3 may have problems with memory, planning, and problem solving.  Signs and symptoms of the disorder typically begin in mid-adulthood but can appear anytime from childhood to late adulthood. People with SCA3 eventually require wheelchair assistance. They usually survive 10 to 20 years after symptoms first appear.
Question: What is (are) Nasopharyngeal Cancer ?

Answer: Key Points
                    - Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx.    - Ethnic background and being exposed to the Epstein-Barr virus can affect the risk of nasopharyngeal cancer.     - Signs of nasopharyngeal cancer include trouble breathing, speaking, or hearing.    - Tests that examine the nose and throat are used to detect (find) and diagnose nasopharyngeal cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Nasopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the nasopharynx.
                    The nasopharynx is the upper part of the pharynx (throat) behind the nose. The pharynx is a hollow tube about 5 inches long that starts behind the nose and ends at the top of the trachea (windpipe) and esophagus (the tube that goes from the throat to the stomach). Air and food pass through the pharynx on the way to the trachea or the esophagus. The nostrils lead into the nasopharynx. An opening on each side of the nasopharynx leads into an ear. Nasopharyngeal cancer most commonly starts in the squamous cells that line the nasopharynx.      Nasopharyngeal cancer is a type of head and neck cancer.
Question: What is the outlook for Neuroblastoma ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - Age of the child at the time of diagnosis.    - The child's risk group.    - Whether there are certain changes in the genes.    - Where in the body the tumor started.    - Tumor histology (the shape, function, and structure of the tumor cells).    - Whether there is cancer in the lymph nodes on the same side of the body as the primary cancer or whether there is cancer in the lymph nodes on the opposite side of the body.    - How the tumor responds to treatment.    - How much time passed between diagnosis and when the cancer recurred (for recurrent cancer).        Prognosis and treatment options for neuroblastoma are also affected by tumor biology, which includes:          - The patterns of the tumor cells.    - How different the tumor cells are from normal cells.    - How fast the tumor cells are growing.    - Whether the tumor shows MYCN amplification.    - Whether the tumor has changes in the ALK gene.         The tumor biology is said to be favorable or unfavorable, depending on these factors. A favorable tumor biology means there is a better chance of recovery.   In some children up to 6 months old, neuroblastoma may disappear without treatment. This is called spontaneous regression. The child is closely watched for signs or symptoms of neuroblastoma. If signs or symptoms occur, treatment may be needed.
Question: What are the symptoms of Syndactyly type 3 ?

Answer: What are the signs and symptoms of Syndactyly type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly 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 MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Camptodactyly of finger 50% Short toe 7.5% 4-5 finger syndactyly - Absent middle phalanx of 5th finger - Autosomal dominant inheritance - Short 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Acanthosis nigricans muscle cramps acral enlargement ?

Answer: What are the signs and symptoms of Acanthosis nigricans muscle cramps acral enlargement? The Human Phenotype Ontology provides the following list of signs and symptoms for Acanthosis nigricans muscle cramps acral enlargement. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acanthosis nigricans - Autosomal recessive inheritance - Insulin resistance - Muscle cramps - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Pseudohypoparathyroidism type 2 ?

Answer: What are the signs and symptoms of Pseudohypoparathyroidism type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Elevated circulating parathyroid hormone (PTH) level - Hyperphosphatemia - Hypocalcemia - Pseudohypoparathyroidism - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Schwartz Jampel syndrome type 1 ?

Answer: Schwartz Jampel syndrome type 1 (SJS1) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle weakness and stiffness, abnormal bone development, joint contractures,  short stature, small, fixed facial features, and eye abnormalities (some of which may impair vision). SJS1 can be divided into two subtypes differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. Individuals with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth. SJS1 is caused by mutations in the HSPG2 gene which makes a protein called perlecan. SJS1 is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern. Treatment for both type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as Botulinum toxin, and surgery.  There is a more severe, distinct condition called Stuve-Wiedemann syndrome which is caused by mutations in the LIFR gene. At one time cases of Stuve-Wiedemann syndrome were referred to as Neonatal Schwartz Jampel syndrome type 2. Click on the link above to learn more about this syndrome.
Question: What are the treatments for Behcet's disease ?

Answer: How might Behcet's disease be treated? Although there is no cure for Behet's disease, people can usually control symptoms with proper medication, rest, exercise, and a healthy lifestyle. The goal of treatment is to reduce discomfort and prevent serious complications such as disability from arthritis or blindness. The type of medicine and the length of treatment depend on the person's symptoms and their severity. It is likely that a combination of treatments will be needed to relieve specific symptoms. Patients should tell each of their doctors about all of the medicines they are taking so that the doctors can coordinate treatment. Topical medicine is applied directly on the sores to relieve pain and discomfort. For example, doctors prescribe rinses, gels, or ointments. Creams are used to treat skin and genital sores. The medicine usually contains corticosteroids (which reduce inflammation), other anti-inflammatory drugs, or an anesthetic, which relieves pain. Doctors also prescribe medicines taken by mouth to reduce inflammation throughout the body, suppress the overactive immune system, and relieve symptoms. Doctors may prescribe one or more of the medicines listed below to treat the various symptoms of Behet's disease. Corticosteroids Immunosuppressive drugs (Azathioprine, Chlorambucil or Cyclophosphamide, Cyclosporine, Colchicine, or a combination of these treatments) Methotrexate
Question: What are the symptoms of Acrokeratoelastoidosis of Costa ?

Answer: What are the signs and symptoms of Acrokeratoelastoidosis of Costa? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrokeratoelastoidosis of Costa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hyperkeratosis 90% Verrucae 90% Abnormality of the nail 50% Hyperhidrosis 50% Acrokeratosis - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.