fenil210/Med-Lamma huggingface dataset:
What is (are) Pompe Disease ?
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. The enzyme performs its function in intracellular compartments called lysosomes. Lysosomes are known to function as cellular clearinghouses; they ingest multiple substances including glycogen, which is converted by the GAA into glucose, a sugar that fuels muscles. In Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of lysosomal glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 300 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.
                
Early onset (or the infantile form) is the result of complete or near complete deficiency of GAA. Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. Many infants with Pompe disease also have enlarged tongues. Most babies die from cardiac or respiratory complications before their first birthday.
                
Late onset (or juvenile/adult) Pompe disease is the result of a partial deficiency of GAA. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure after a course lasting several years. The heart is usually not involved. A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample. Once Pompe disease is diagnosed, testing of all family members and a consultation with a professional geneticist are recommended. Carriers are most reliably identified via genetic mutation analysis. + NINDS + Pompe Disease
What are the treatments for Pompe Disease ?
Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme), has received FDA approval for the treatment of infants and children with Pompe disease. Another algluosidase alfa drug, Lumizyme, has been approved for late-onset (non-infantile) Pompe disease. + NINDS + Pompe Disease
What is the outlook for Pompe Disease ?
Without enzyme replacement therapy, the hearts of babies with infantile onset Pompe disease progressively thicken and enlarge. These babies die before the age of one year from either cardiorespiratory failure or respiratory infection. For individuals with late onset Pompe disease, the prognosis is dependent upon the age of onset. In general, the later the age of onset, the slower the progression of the disease. Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement. + NINDS + Pompe Disease
what research (or clinical trials) is being done for Pompe Disease ?
The National Institute of Neurological Disorders and Stroke (NINDS) supports Pompe research through grants to major research institutions across the country. Research related to Pompe disease is conducted in one of the laboratories of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health. Much of Pompe-related research focuses on finding better ways to prevent, treat, and ultimately cure this disorder. + NINDS + Pompe Disease
What is (are) Machado-Joseph Disease ?
Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements. + NINDS + Machado-Joseph Disease
What are the treatments for Machado-Joseph Disease ?
MJD is incurable, but some symptoms of the disease can be treated. For those individuals who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Botulinum toxin can also treat severe spasticity as well as some symptoms of dystonia. Speech problems and trouble swallowing can be treated with medication and speech therapy. Physiotherapy can help patients cope with disability associated with gait problems. Physical aids, such as walkers and wheelchairs, can assist with everyday activities. + NINDS + Machado-Joseph Disease
What is the outlook for Machado-Joseph Disease ?
The severity of the disease is related to the age of onset, with earlier onset associated with more severe forms of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. The cause of death for those who die early is often aspiration pneumonia. + NINDS + Machado-Joseph Disease
what research (or clinical trials) is being done for Machado-Joseph Disease ?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts MJD research in its laboratories at the National Institutes of Health (NIH) and also supports MJD research through grants to major medical institutions across the country. Ongoing research includes studies to better understand the genetic, molecular, and cellular mechanisms that underlie inherited neurodegenerative diseases such as MJD. Other research areas include the development of novel therapies to treat the symptoms of MJD, efforts to identify diagnostic markers and to improve current diagnostic procedures for the disease, and population studies to identify affected families. + NINDS + Machado-Joseph Disease
What is (are) Colpocephaly ?
Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. Colpocephaly, one of a group of structural brain disorders known as cephalic disorders, is characterized by microcephaly (an abnormally small head) and impaired intellect. Other features may include movement abnormalities, muscle spasms, and seizures. Although the cause of colpocephaly is unknown, researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. Colpocephaly may be diagnosed late in pregnancy, although it is often misdiagnosed as hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). It may be more accurately diagnosed after birth when signs of impaired intellect, microcephaly, and seizures are present. + NINDS + Colpocephaly
What are the treatments for Colpocephaly ?
There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles. + NINDS + Colpocephaly
What is the outlook for Colpocephaly ?
The prognosis for individuals with colpocephaly depends on the severity of the associated conditions and the degree of abnormal brain development. Some children benefit from special education. + NINDS + Colpocephaly
what research (or clinical trials) is being done for Colpocephaly ?
The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research related to colpocephaly and other cephalic disorders in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding ways to prevent brain abnormalities such as colpocephaly. + NINDS + Colpocephaly
What is (are) Alzheimer's Disease ?
Alzheimer's disease (AD) is an age-related, non-reversible brain disorder that develops over a period of years. Initially, people experience memory loss and confusion, which may be mistaken for the kinds of memory changes that are sometimes associated with normal aging. However, the symptoms of AD gradually lead to behavior and personality changes, a decline in cognitive abilities such as decision-making and language skills, and problems recognizing family and friends. AD ultimately leads to a severe loss of mental function. These losses are related to the worsening breakdown of the connections between certain neurons in the brain and their eventual death. AD is one of a group of disorders called dementias that are characterized by cognitive and behavioral problems. It is the most common cause of dementia among people age 65 and older.
                
There are three major hallmarks in the brain that are associated with the disease processes of AD.
                
- Amyloid plaques, which are made up of fragments of a protein called beta-amyloid peptide mixed with a collection of additional proteins, remnants of neurons, and bits and pieces of other nerve cells. - Neurofibrillary tangles (NFTs), found inside neurons, are abnormal collections of a protein called tau. Normal tau is required for healthy neurons. However, in AD, tau clumps together. As a result, neurons fail to function normally and eventually die. - Loss of connections between neurons responsible for memory and learning. Neurons can't survive when they lose their connections to other neurons. As neurons die throughout the brain, the affected regions begin to atrophy, or shrink. By the final stage of AD, damage is widespread and brain tissue has shrunk significantly. + NINDS + Alzheimer's Disease
What are the treatments for Alzheimer's Disease ?
Currently there are no medicines that can slow the progression of AD. However, four FDA-approved medications are used to treat AD symptoms. These drugs help individuals carry out the activities of daily living by maintaining thinking, memory, or speaking skills. They can also help with some of the behavioral and personality changes associated with AD. However, they will not stop or reverse AD and appear to help individuals for only a few months to a few years. Donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne) are prescribed to treat mild to moderate AD symptoms. Donepezil was recently approved to treat severe AD as well. The newest AD medication is memantine (Namenda), which is prescribed to treat moderate to severe AD symptoms. + NINDS + Alzheimer's Disease
What is the outlook for Alzheimer's Disease ?
In very few families, people develop AD in their 30s, 40s, and 50s. This is known as "early onset" AD. These individuals have a mutation in one of three different inherited genes that causes the disease to begin at an earlier age. More than 90 percent of AD develops in people older than 65. This form of AD is called "late-onset" AD, and its development and pattern of damage in the brain is similar to that of early-onset AD. The course of this disease varies from person to person, as does the rate of decline. In most people with AD, symptoms first appear after age 65.
                
We don't yet completely understand the causes of late-onset AD, but they probably include genetic, environmental, and lifestyle factors. Although the risk of developing AD increases with age, AD and dementia symptoms are not a part of normal aging. There are also some forms of dementia that aren't related to brain diseases such as AD, but are caused by systemic abnormalities such as metabolic syndrome, in which the combination of high blood pressure, high cholesterol, and diabetes causes confusion and memory loss. + NINDS + Alzheimer's Disease
what research (or clinical trials) is being done for Alzheimer's Disease ?
The National Institute of Neurological Disorders and Stroke (NINDS) supports basic and translational research related to AD through grants to major medical institutions across the country. Current studies are investigating how the development of beta amyloid plaques damages neurons, and how abnormalities in tau proteins create the characteristic neurofibrillary tangles of AD. Other research is exploring the impact of risk factors associated with the development of AD, such as pre-existing problems with blood flow in the blood vessels of the brain. Most importantly, the NINDS supports a number of studies that are developing and testing new and novel therapies that can relieve the symptoms of AD and potentially lead to a cure.
                
On May 15, 2012 the Obama Administration announced the release of the National Alzheimers Plan. U.S. Secretary of Health and Human Services Kathleen Sebelius reaffirmed our nations commitment to conquering Alzheimers disease and related dementias, with a specific goal of finding effective ways to prevent and treat the disease by 2025. + NINDS + Alzheimer's Disease
What is (are) Herpes Zoster Oticus ?
Herpes zoster oticus, also called Ramsay Hunt Syndrome or Ramsay Hunt Syndrome type II, is a common complication of shingles. Shingles is an infection caused by the varicella-zoster virus, which is the virus that causes chickenpox. Shingles occurs in people who have had chickenpox and represents a reactivation of the dormant varicella-zoster virus. Herpes zoster oticus, which is caused by the spread of the varicella-zoster virus to facial nerves, is characterized by intense ear pain, a rash around the ear, mouth, face, neck, and scalp, and paralysis of facial nerves. Other symptoms may include hearing loss, vertigo (abnormal sensation of movement), and tinnitus (abnormal sounds). Taste loss in the tongue and dry mouth and eyes may also occur. + NINDS + Herpes Zoster Oticus
What are the treatments for Herpes Zoster Oticus ?
Some cases of herpes zoster oticus do not require treatment. When treatment is needed, medications such as antiviral drugs or corticosteroids may be prescribed. Vertigo may be treated with the drug diazepam + NINDS + Herpes Zoster Oticus
What is the outlook for Herpes Zoster Oticus ?
Generally, the prognosis of herpes zoster oticus is good. However, in some cases, hearing loss may be permanent. Vertigo may last for days or weeks. Facial paralysis may be temporary or permanent. + NINDS + Herpes Zoster Oticus
what research (or clinical trials) is being done for Herpes Zoster Oticus ?
The NINDS supports research on shingles and shingles-related conditions. Current studies focus on the relationship between the persistence of neurotropic viruses and development of neurological diseases including herpes simplex and varicella-zoster viruses. + NINDS + Herpes Zoster Oticus
What is (are) Krabbe Disease ?
Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells. Krabbe disease, also known as globoid cell leukodystrophy, ischaracterized by the presence of globoid cells (cells that have more than one nucleus) that break down the nerves protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness. + NINDS + Krabbe Disease
What are the treatments for Krabbe Disease ?
There is no cure for Krabbe disease. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Bone marrow transplantation may help some people. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. + NINDS + Krabbe Disease
What is the outlook for Krabbe Disease ?
Krabbe disease in infants is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer. + NINDS + Krabbe Disease
what research (or clinical trials) is being done for Krabbe Disease ?
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the largest supporter of biomedical research in the world. Hamatopoietic stem cell transplantation -- using stem cells from umbilical cord blood or bone marrow -- has been shown to benefit some individuals when given early in the course of the disease. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy to see if it dramatically increases life expectancy in a mouse model of the disease. Also in a mouse mode, NINDS-funded scientists are testing a combined treatment approach that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small-molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in Krabbe disease. + NINDS + Krabbe Disease
What is (are) Meningitis and Encephalitis ?
Meningitis is an infection of the meninges, the membranes that surround the brain and spinal cord. Encephalitis is inflammation of the brain itself. Causes of encephalitis and meningitis include viruses, bacteria, fungus, and parasites. Anyone can get encephalitis or meningitis.Inflammation from encephalitis and meningitis produce a wide range of symptoms. Symptoms of encephalitis include sudden fever, headache, vomiting, heightened sensitivity to light, stiff neck and back, confusion and impaired judgment, drowsiness, weak muscles, a clumsy and unsteady gait, and irritability. In more severe cases, people may have problems with speech or hearing, vision problems, and hallucinations. Symptoms that might require emergency treatment include loss of consciousness, seizures, muscle weakness, or sudden severe dementia.
                
Symptoms of meningitis, which may appear suddenly, often include high fever, severe and persistent headache, stiff neck, nausea, sensitivity to bright light, and vomiting. Changes in behavior such as confusion, sleepiness, and difficulty waking up may also occur. In infants, symptoms of meningitis or encephalitis may include fever, vomiting, lethargy, body stiffness, unexplained irritability, and a full or bulging fontanel (the soft spot on the top of the head). Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately. + NINDS + Meningitis and Encephalitis
What are the treatments for Meningitis and Encephalitis ?
Anyone experiencing symptoms of meningitis or encephalitis should see a doctor immediately. Antibiotics for most types of meningitis can greatly reduce the risk of dying from the disease. Antiviral medications may be prescribed for viral encephalitis or other severe viral infections.Anticonvulsants are used to prevent or treat seizures. Corticosteroidd rugs can reduce brain swelling and inflammation. Over-the-counter medications may be used for fever and headache. Individuals with encephalitis or bacterial meningitis are usually hospitalized for treatment. Affected individuals with breathing difficulties may require artificial respiration. + NINDS + Meningitis and Encephalitis
What is the outlook for Meningitis and Encephalitis ?
The prognosis for for people with encephalitis or meningitis varies. Some cases are mild, short and relatively benign and individuals have full recovery, although the process may be slow. Individuals who experience mild symptoms may recover in 2-4 weeks. Other cases are severe, and permanent impairment or death is possible. The acute phase of encephalitis may last for 1 to 2 weeks, with gradual or sudden resolution of fever and neurological symptoms. Individuals treated for bacterial meningitis typically show some relief within 48-72 hours. Neurological symptoms may require many months before full recovery. With early diagnosis and prompt treatment, most individuals recover from meningitis. However, in some cases, the disease progresses so rapidly that death occurs during the first 48 hours, despite early treatment. + NINDS + Meningitis and Encephalitis
what research (or clinical trials) is being done for Meningitis and Encephalitis ?
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. Current research efforts include gaining a better understanding of how the central nervous system responds to inflammation in the brain, as well as to better understand the molecular mechanisms involved in the protection and disruption of the blood-brain barrier, which could lead to the development of new treatments for several neuroinflammatory diseases such as meningitis and encephalitis. + NINDS + Meningitis and Encephalitis