deep-div/medical_qa_mediqa huggingface dataset:
Question: more information in relation to Ellis van creveld syndrome Specifically in later life can they have children has it ever been reported any researchcarried out and just as much information as possible to help my understanding of what I have Many thanks

Reference:
 EVC gene DWF-1 Ellis van Creveld protein Ellis van Creveld syndrome Ellis van Creveld syndrome protein EVC1 EVC_HUMAN EVCL Normal Function The EVC gene provides instructions for making a protein whose function is unclear. However, it appears to be important for normal growth and development, particularly the development of bones and teeth. The EVC protein is found in primary cilia, which are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information between cells. In particular, the EVC protein is thought to help regulate a signaling pathway known as Sonic Hedgehog, which plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body. EVC and another gene, EVC2, are located very close together on chromosome 4. Researchers believe that the two genes may have related functions and that their activity may be coordinated. Health Conditions Related to Genetic Changes More than 25 mutations in the EVC gene have been reported to cause Ellis-van Creveld syndrome, an inherited disorder characterized by dwarfism, abnormal nails and teeth, and heart defects. The mutations that cause this condition occur in both copies of the EVC gene in each cell. These genetic changes disrupt the normal function of the EVC protein or lead to the production of an abnormally small, nonfunctional version of the protein. Although it is unclear how the loss of this protein's function underlies the signs and symptoms of Ellis-van Creveld syndrome, researchers believe that it may prevent normal Sonic Hedgehog signaling in the developing embryo. Problems with this signaling pathway may ultimately lead to the abnormal bone growth and heart defects seen with this condition. Chromosomal Location Cytogenetic Location: 4p16.2, which is the short (p) arm of chromosome 4 at position 16.2 Molecular Location: base pairs 5,711,197 to 5,829,043 on chromosome 4 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI) </div> Credit: Genome Decoration Page/NCBI Sources for This Page Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-Perez VL, Goodship JA. Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus. BMC Biol. 2011 Feb 28;9:14. doi: 10.1186/1741-7007-9-14. 

Answer: Ellis-van Creveld syndrome is an inherited disorder characterized by dwarfism, abnormal nails and teeth, and heart defects.
Question: Is optic atrophy ginetic and what cause it?

Reference:
 Optic nerve atrophy Optic atrophy Optic neuropathy Summary Optic nerve atrophy is damage to the optic nerve. The optic nerve carries images of what the eye sees to the brain. Causes There are many causes of optic atrophy. The most common is poor blood flow. This is called ischemic optic neuropathy. The problem most often affects older adults. The optic nerve can also be damaged by shock, toxins, radiation, and trauma. Eye diseases, such as glaucoma, can also cause a form of optic nerve atrophy. The condition can also be caused by diseases of the brain and central nervous system. These may include: Brain tumor Cranial arteritis (sometimes called temporal arteritis) Multiple sclerosis Stroke There are also rare forms of hereditary optic nerve atrophy that affect children and young adults. Symptoms Optic nerve atrophy causes vision to dim and reduces the field of vision. The ability to see fine detail will also be lost. Colors will seem faded. Over time, the pupil will be less able to react to light, and eventually, its ability to react to light may be lost. Exams and Tests The health care provider will do a complete eye exam to look for the condition. The exam will include tests of: Color vision Pupil light reflex Tonometry Visual acuity You may also need a complete physical exam and other tests. Treatment Damage from optic nerve atrophy cannot be reversed. The underlying disease must be found and treated. Otherwise, vision loss will continue. Rarely, conditions that lead to optic atrophy may be treatable. Outlook (Prognosis) Vision lost to optic nerve atrophy cannot be recovered. It is very important to protect the other eye. When to Contact a Medical Professional People with this condition need to be checked regularly by an eye doctor with experience in nerve-related conditions. Tell your doctor right away about any change in vision. Prevention Many causes of optic nerve atrophy cannot be prevented. Prevention steps include: Older adults should have their provider carefully manage their blood pressure. Use standard safety precautions to prevent injuries to the face. Most facial injuries are the result of car accidents. Wearing seat belts may help prevent these injuries. Schedule a routine annual eye exam to check for glaucoma. Never drink home-brewed alcohol and forms of alcohol that are not intended for drinking. Methanol, which is found in home-brewed alcohol, can cause optic nerve atrophy in both eyes. Review Date 8/20/2016 Updated by: Franklin W. Lusby, MD, ophthalmologist, Lusby Vision Institute, La Jolla, CA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. 

Answer: To prevent some cases of  optic nerve atrophy, older adults should have their provider carefully manage their blood pressure. Avoid injuries to the face. Schedule a routine annual eye exam to check for glaucoma. Avoid drinks, such as home-brewed alcohol, that contain methanol, which can cause optic nerve atrophy in both eyes.
Question: polymicrogyria. My 16 month old son has this. Does not sit up our crawl yet but still trying and is improving in grabbing things etc etc. Have read about other cases that seem 10000 time worse. It's it possible for this post of his brain to grown to normal and he grow out of it?

Reference:
 Bilateral generalized polymicrogyria Bilateral generalised polymicrogyria Summary Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). [1] [2] [3] This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. [1] Signs and symptoms include severe intellectual disability , problems with movement, and seizures that are difficult or impossible to treat. [1] [2] While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. [2] Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person. [1] [2] [3] Statistics Although polymicrogyria as a broad category of disorders is collectively believed to be fairly common, each individual type (such as bilateral generalized polymicrogyria) is probably rare. [1] [2] Unfortunately for the rare diseases, there's often not a calculated incidence or prevalence; there is no official method for tracking these conditions. To our knowledge, the incidence and prevalence of bilateral generalized polymicrogyria remains unknown. [1] [2] [3] 

Answer: Signs and symptoms of bilateral generalized polymicrogyria ,  the most common form of polymicrogyria, include severe  intellectual disability , problems with movement, and  seizures that are difficult or impossible to treat.
Question: polymicrogyria. My 16 month old son has this. Does not sit up our crawl yet but still trying and is improving in grabbing things etc etc. Have read about other cases that seem 10000 time worse. It's it possible for this post of his brain to grown to normal and he grow out of it?

Reference:
 Polymicrogyria Summary Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures ( epilepsy ); delayed development; crossed eyes ; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome . Treatment is based on the signs and symptoms present in each person. [1] [2] Symptoms A wide variety of symptoms may be observed in people with polymicrogyria, depending on the areas of the brain implicated and whether or not it is part of a larger syndrome . Signs and symptoms may include: [3] [4] Developmental delay Crossed eyes Epilepsy Paralysis of the face, throat, and tongue Difficulty with speech and swallowing Drooling Diagnosis The diagnosis of polymicrogyria is made by imaging brain structures using MRI . Typical findings include areas of the cerebral cortex with a complex set of small gyri that appear fused to each other and separated by shallow sulci. These findings may be isolated to one side of the brain (unilateral) or may involve both sides of the brain (bilateral). [3] [4] 

Answer: Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Symptoms of polymicrogyria vary depending on how much of the brain and which areas of the brain are affected and whether or not it is part of a larger syndrome . Affected people may experience recurrent epileptic seizures; delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms, which affect both sides of the brain, cause more severe neurological problems.
Question: Psoriasis for past 7-8 years I had psoriasis on my scalp for nearly 10 years. Please give suggestions and medications.

Reference:
 Psoriasis Summary Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. The skin on the elbows, knees, scalp, back, face, palms and feet is most often affected, but other parts of the body can be affected as well. A problem with the immune system causes psoriasis. In a process called cell turnover, skin cells that grow deep in the skin rise to the surface. Normally, this takes a month. In psoriasis, it happens in just days because the cells rise too fast. Although symptoms may come and go, for many, psoriasis is a lifelong condition. Infections, stress, dry skin and certain medications may make symptoms worse. Psoriasis usually occurs in adults. It sometimes runs in families. Treatments include creams, medications and light therapy. [1] [2] 

Answer: Infections, stress, dry skin and certain medications may make symptoms worse. Treatments include creams, medications and light therapy.
Question: subjective vertigo Can macular degeneration in only one eye cause dizziness?

Reference:
 Macular Degeneration Age-related macular degeneration AMD Summary Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked. Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision. NIH: National Eye Institute 

Answer: Macular degeneration is a disease that destroys sharp, central vision. Central vision allows to see objects clearly and to do tasks such as reading and driving.
Question: what is copd

Reference:
 COPD Summary COPD (chronic obstructive pulmonary disease) makes it hard for you to breathe. The two main types are chronic bronchitis and emphysema. The main cause of COPD is long-term exposure to substances that irritate and damage the lungs. This is usually cigarette smoke. Air pollution, chemical fumes, or dust can also cause it. At first, COPD may cause no symptoms or only mild symptoms. As the disease gets worse, symptoms usually become more severe. They include - A cough that produces a lot of mucus - Shortness of breath, especially with physical activity - Wheezing - Chest tightness Doctors use lung function tests, imaging tests, and blood tests to diagnose COPD. There is no cure. Treatments may relieve symptoms. They include medicines, oxygen therapy, surgery, or a lung transplant. Quitting smoking is the most important step you can take to treat COPD. NIH: National Heart, Lung, and Blood Institute 

Answer: COPD (chronic obstructive pulmonary disease) makes it hard for you to breathe.  COPD is diagnosed using lung function tests, imaging tests, and blood tests. Your doctor may prescribe medicines, oxygen therapy, surgery, or a lung transplant to relieve symptoms of COPD.
Question: what is epilepsy

Reference:
 Epilepsy Definition The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activity—from illness to brain damage to abnormal brain development—can lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy. Treatment Once epilepsy is diagnosed, it is important to begin treatment as soon as possible. For about 70 percent of those diagnosed with epilepsy, seizures can be controlled with modern medicines and surgical techniques. Some drugs are more effective for specific types of seizures. An individual with seizures, particularly those that are not easily controlled, may want to see a neurologist specifically trained to treat epilepsy. In some children, special diets may help to control seizures when medications are either not effective or cause serious side effects. Prognosis While epilepsy cannot be cured, for some people the seizures can be controlled with medication, diet, devices, and/or surgery. Most seizures do not cause brain damage, but ongoing uncontrolled seizures may cause brain damage. It is not uncommon for people with epilepsy, especially children, to develop behavioral and emotional problems in conjunction with seizures. Issues may also arise as a result of the stigma attached to having epilepsy, which can led to embarrassment and frustration or bullying, teasing, or avoidance in school and other social settings. For many people with epilepsy, the risk of seizures restricts their independence (some states refuse drivers licenses to people with epilepsy) and recreational activities. Epilepsy can be a life-threatening condition. Some people with epilepsy are at special risk for abnormally prolonged seizures or sudden unexplained death in epilepsy. 

Answer: Epilepsy is a  brain disorder in which the activity of brain cells is disturbed,  which, in turn, causes strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness.
Question: what is epilepsy

Reference:
 Epilepsy Summary Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke 

Answer: Epilepsy is a  brain disorder in which the brain cells isend out the wrong signals. which , in turn, causes strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness.
Question: what is epilepsy

Reference:
 Progressive myoclonic epilepsy Familial progressive myoclonic epilepsy Summary Progressive myoclonus epilepsy (PME) refers to a group of inherited conditions involving the central nervous system and representing more than a dozen different diseases. These diseases share certain features, including a worsening of symptoms over time and the presence of both muscle contractions ( myoclonus) and seizures ( epilepsy). PME is different from myoclonic epilepsy. [1] Other features include dementia , dystonia , and trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Many of these PME diseases begin in childhood or adolescence. [2] 

Answer: Epilepsy seizures and muscle contractions are present in a group of rare hereditary disorders called Progressive myoclonus epilepsy (PME.) Many  PME diseases begin in childhood or adolescence, get worse over time and sometimes are fatal.
Question: what is the cause of the coffin lowry syndrome?

Reference:
 Coffin Lowry Syndrome What is Coffin Lowry Syndrome? Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone (pigeon chest, or pectus carinatum), dental abnormalities, and short, hyperextensible, tapered fingers. Other features may include feeding and respiratory problems, developmental delay, hearing impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. The disorder affects males and females in equal numbers, but symptoms are usually more severe in males. The disorder is caused by a defective gene, RSK2, which is found in 1996 on the X chromosome (Xp22.2-p22.1). Thus, the syndrome is typically more severe in males because males have only one X chromosome, while females have two. It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings. Is there any treatment? There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services. What is the prognosis? The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome. What research is being done? The NINDS supports and conducts research on genetic disorders, such as Coffin-Lowry syndrome, in an effort to find ways to prevent, treat, and ultimately cure these disorders. 

Answer: Coffin-Lowry syndrome is caused by a defective gene, RSK2, which is found in 1996 on the X chromosome (Xp22.2-p22.1), and is usually more severe in males because males have only one X chromosome. This rare genetic disorder is characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia.  It is unclear how mutations in the DNA structure of the gene lead to the clinical findings.
Question: what is the disorder achondroplasia

Reference:
 Achondroplasia Summary Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. Causes Achondroplasia is one of a group of disorders called chondrodystrophies, or osteochondrodysplasias. Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%. However, most cases appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition. Symptoms The typical appearance of achondroplastic dwarfism can be seen at birth. Symptoms may include: Abnormal hand appearance with persistent space between the long and ring fingers Bowed legs Decreased muscle tone Disproportionately large head-to-body size difference Prominent forehead (frontal bossing) Shortened arms and legs (especially the upper arm and thigh) Short stature (significantly below the average height for a person of the same age and sex) Narrowing of the spinal column (spinal stenosis) Spine curvatures called kyphosis and lordosis Exams and Tests During pregnancy, a prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant. Examination of the infant after birth shows increased front-to-back head size. There may be signs of hydrocephalus ("water on the brain"). X-rays of the long bones can reveal achondroplasia in the newborn. Treatment There is no specific treatment for achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems. Outlook (Prognosis) People with achondroplasia seldom reach 5 feet (1.5 meters) in height. Intelligence is in the normal range. Infants who receive the abnormal gene from both parents do not often live beyond a few months. Possible Complications Health problems that may develop include: Breathing problems from a small upper airway and from pressure on the area of the brain that controls breathing Lung problems from a small ribcage When to Contact a Medical Professional If there is a family history of achondroplasia and you plan to have children, you may find it helpful to speak to your health care provider. Prevention Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible. Review Date 10/18/2017 Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 

Answer: achondroplasia most often develops spontaneously,