shaneperry0101/health-chatbot huggingface dataset:
Question: What is (are) Motor Neuron Diseases ?
Answer: The motor neuron diseases (MNDs) are a group of progressive neurological disorders that destroy cells that control essential muscle activity such as speaking, walking, breathing, and swallowing. Normally, messages from nerve cells in the brain (called upper motor neurons) are transmitted to nerve cells in the brain stem and spinal cord (called lower motor neurons) and from them to particular muscles. When there are disruptions in these signals, the result can be gradual muscle weakening, wasting away, and uncontrollable twitching (called fasciculations). Eventually, the ability to control voluntary movement can be lost. MNDs may be inherited or acquired, and they occur in all age groups. MNDs occur more commonly in men than in women, and symptoms may appear after age 40. In children, particularly in inherited or familial forms of the disease, symptoms can be present at birth or appear before the child learns to walk.
The causes of sporadic (noninherited) MNDs are not known, but environmental, toxic, viral, or genetic factors may be implicated. Common MNDs include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy, primary lateral sclerosis, and progressive muscular atrophy. Other MNDs include the many inherited forms of spinal muscular atrophy and post-polio syndrome, a condition that can strike polio survivors decades after their recovery from poliomyelitis.
Question: What are the treatments for Motor Neuron Diseases ?
Answer: There is no cure or standard treatment for the MNDs. Symptomatic and supportive treatment can help patients be more comfortable while maintaining their quality of life. The drug riluzole (Rilutek), which as of this date is the only drug approved by the U.S. Food and Drug Administration to treat ALS, prolongs life by 2-3 months but does not relieve symptoms. Other medicines that may help reduce symptoms include muscle relaxants such as baclofen, tizanidine, and the benzodiazepines for spasticity; glycopyrrolate and atropine to treat excessive saliva; and anticonvulsants and nonsteroidal anti-inflammatory drugs to relieve pain. Panic attacks can be treated with benzodiazepines. Some patients may require stronger medicines such as morphine to cope with musculoskeletal abnormalities or pain in later stages of the disorders, and opiates are used to provide comfort care in terminal stages of the disease.
Physical and speech therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, slow muscle weakness and atrophy, and cope with swallowing difficulties. Applying heat may relieve muscle pain. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs help some patients retain independence. Proper nutrition and a balanced diet are essential to maintaining weight and strength.
Question: what research (or clinical trials) is being done for Motor Neuron Diseases ?
Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of 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 (NIH), the leading supporter of biomedical research in the world. Researchers are testing whether different drugs, agents, or interventions are safe and effective in slowing the progression of motor neuron diseasess. NIH is also conducting clinical trials to study drugs to stimulate muscle growth in Kennedys disease and to suppress endogenous retroviruses in individuals with ALS. A large NIH-led collaborative study is investigating the genes and gene activity, proteins, and modifications of adult stem cell models from both healthy people and those with ALS,spinal muscular atrophy, and other neurodegenerative diseases to better understand the function of neurons and other support cells and identify candidate therapeutic compounds.
conducts research related to the MNDs in its laboratories at the National Institutes of Health (NIH), and also supports additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as the MNDs.
Question: What is (are) Cerebellar Degeneration ?
Answer: Cerebellar degeneration is a process in which neurons in the cerebellum - the area of the brain that controls coordination and balance - deteriorate and die. Diseases that cause cerebellar degeneration can also involve other areas of the central nervous system,including the spinal cord, medulla oblongata, cerebral cortex, and brain stem. Cerebellar degeneration may be the result of inherited genetic mutations that alter the normal production of specific proteins that are necessary for the survival of neurons.
Associated diseases: Diseases that are specific to the brain, as well as diseases that occur in other parts of the body, can cause neurons to die in the cerebellum. Neurological diseases that feature cerebellar degeneration include:
- ischemic or hemorrhagic stroke, when there is lack of blood flow or oxygen to the cerebellum - cerebellar cortical atrophy, multisystem atrophy, and olivopontocerebellar degeneration, progressive degenerative disorders in which cerebellar degeneration is a key feature - Friedreichs ataxia, and other spinocerebellar ataxias, which are caused by inherited genetic mutations that result in ongoing loss of neurons in the cerebellum, brain stem, and spinal cord - transmissible spongiform encephalopathies (such as Creutzfeldt-Jakob disease) in which abnormal proteins cause inflammation in the brain, including the cerebellum - multiple sclerosis, in which damage to the insulating membrane (myelin) that wraps around and protects nerve cells can involve the cerebellum Other diseases that can cause cerebellar degeneration include: - chronic alcohol abuse that leads to temporary or permanent cerebellar damage - paraneoplastic disorders, in which a malignancy (cancer) in other parts of the body produces substances that cause immune system cells to attack neurons in the cerebellum Symptoms of cerebellar degeneration: The most characteristic symptom of cerebellar degeneration is a wide-based, unsteady, lurching walk, often accompanied by a back and forth tremor in the trunk of the body. Other symptoms may include slow, unsteady and jerky movement of the arms or legs, slowed and slurred speech, and nystagmus -- rapid, small movements of the eyes.
Question: What is (are) Congenital Myopathy ?
Answer: A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up.
Muscle weakness can occur for many reasons, including a problem with the muscle, a problem with the nerve that stimulates the muscle, or a problem with the brain. Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness. If a myopathy is suspected, possible tests include a blood test for a muscle enzyme called creatine kinase, an electromyogram (EMG) to evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing.
There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook.
Nemaline myopathy is the most common congenital myopathy. Infants usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine). In general, the weakness does not worsen during life.
Myotubular myopathy is rare and only affects boys. Weakness and floppiness are so severe that a mother may notice reduced movements of the baby in her womb during pregnancy. There are usually significant breathing and swallowing difficulties; many children do not survive infancy. Osteopenia (weakening of the bones) is also associated with this disorder.
Centronuclear myopathy is rare and begins in infancy or early childhood with weakness of the arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time.
Central core disease varies among children with regard to the severity of problems and the degree of worsening over time. Usually, there is mild floppiness in infancy, delayed milestones, and moderate limb weakness, which do not worsen much over time. Children with central core disease may have life-threatening reactions to general anesthesia. Treatment with the drug salbutamol has been shown to reduce weakness significantly, although it does not cure the disorder.
Multi-minicore disease has several different subtypes. Common to most is severe weakness of the limbs and scoliosis. Often breathing difficulties occur as well. Some children have weakened eye movements.
Congenital fiber-type disproportion myopathy is a rare disorder that begins with floppiness, limb and facial weakness, and breathing problems.
Hyaline body myopathy is a disorder characterized by the specific appearance under the microscope of a sample of muscle tissue. It probably includes several different causes. Because of this, the symptoms are quite variable.
Question: What is (are) Ataxia ?
Answer: Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.
Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a persons nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration.
Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreichs ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history.
Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies.
Question: What is (are) Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?
Answer: Vasculitis is an inflammation of blood vessels, which includes the veins, arteries, and capillaries. Inflammation occurs with infection or is thought to be due to a faulty immune system response. It also can be caused by other immune system disease, an allergic reaction to medicines or toxins, and by certain blood cancers. Vasculitic disorders can cause problems in any organ system, including the central (CNS) and peripheral (PNS) nervous systems. Vasculitis disorders, or syndromes, of the CNS and PNS are characterized by the presence of inflammatory cells in and around blood vessels, and secondary narrowing or blockage of the blood vessels that nourish the brain, spinal cord, or peripheral nerves.
A vasculitic syndrome may begin suddenly or develop over time. Symptoms include headaches, especially a headache that doesnt go away; fever, rapid weight loss; confusion or forgetfulness leading to dementia; swelling of the brain, pain while chewing or swallowing; paralysis or numbness, usually in the arms or legs; and visual disturbances, such as double vision, blurred vision, or blindness
Some of the better understood vasculitis syndromes are temporal arteritis (also called giant cell arteritis or cranial arteritis--a chronic inflammatory disorder of large blood vessels) and Takayasus disease, which affects larger aortas and may cause stoke.
Question: what research (or clinical trials) is being done for Menkes Disease ?
Answer: Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications. The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear. Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal, 2. Additional research is being performed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, in collaboration with the NINDS, that applies gene therapy approaches to Menkes disease.3
1. Kaler, SG. The neurology of STPAT copper transporter disease: emerging concepts and future trends. Nature Reviews Neurology, 2001:7:15-19..
2. Kaler SG, et al.Neonatal Diagnosis and Treatment of Menkes Disease. N Engl J Med 2008;358:605-14.
3. Donsante, A. et. al. ATPTA gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Molecular Therapy (in press as of August 2011).
Question: What is (are) Cerebral Atrophy ?
Answer: Cerebral atrophy is a common feature of many of the diseases that affect the brain. Atrophy of any tissue means loss of cells. In brain tissue, atrophy describes a loss of neurons and the connections between them. Atrophy can be generalized, which means that all of the brain has shrunk; or it can be focal, affecting only a limited area of the brain and resulting in a decrease of the functions that area of the brain controls. If the cerebral hemispheres (the two lobes of the brain that form the cerebrum) are affected, conscious thought and voluntary processes may be impaired.
Associated Diseases/Disorders: The pattern and rate of progression of cerebral atrophy depends on the disease involved. Diseases that cause cerebral atrophy include:
- stroke and traumatic brain injury - Alzheimers disease, Picks disease, and fronto-temporal dementia - cerebral palsy, in which lesions (damaged areas) may impair motor coordination - Huntingtons disease, and other hereditary diseases that are associated with genetic mutations - leukodystrophies, such as Krabbe disease, which destroy the myelin sheath that protects axons - mitochondrial encephalomyopathies, such as Kearns-Sayre syndrome, which interfere with the basic functions of neurons - multiple sclerosis, which causes inflammation, myelin damage, and lesions in cerebral tissue - infectious diseases, such as encephalitis, neurosyphilis, and AIDS, in which an infectious agent or the inflammatory reaction to it destroys neurons and their axons
Symptoms of cerebral atrophy: Many diseases that cause cerebral atrophy are associated with dementia, seizures, and a group of language disorders called the aphasias.
- Dementia is characterized by a progressive impairment of memory and intellectual function that is severe enough to interfere with social and work skills. Memory, orientation, abstraction, ability to learn, visual-spatial perception, and higher executive functions such as planning, organizing, and sequencing may also be impaired. - Seizures can take different forms, appearing as disorientation, repetitive movements, loss of consciousness, or convulsions. - Aphasias are a group of disorders characterized by disturbances in speaking and understanding language. Receptive aphasia causes impaired comprehension. Expressive aphasia is reflected in odd choices of words, the use of partial phrases, disjointed clauses, and incomplete sentences.
Question: What is (are) Tremor ?
Answer: Tremor is an unintentional, rhythmic, muscle movement involving to-and-fro movements of one or more parts of the body. Most tremors occur in the hands, although they can also affect the arms, head, face, voice, trunk, and legs. Sometimes tremor is a symptom of another neurological disorder or a side effect of certain drugs, but the most common form occurs in otherwise healthy people. Some forms of tremor are inherited and run in families, while others have no known cause. Excessive alcohol consumption or alcohol withdrawal can kill certain nerve cells, resulting in tremor, especially in the hand. Other causes include an overactive thyroid and the use of certain drugs. Tremor may occur at any age but is most common in middle-aged and older persons.
There are several forms of tremor, including:
Essential tremor (sometimes called benign essential tremor) is the most common form of abnormal tremor.The hands are most often affected but the head, voice, tongue, legs, and trunk may also be involved. Head tremor may be seen as a "yes-yes" or "no-no" motion. Onset is most common after age 40, although symptoms can appear at any age. Parkinsonian tremor is caused by damage to structures within the brain that control movement. The tremor is classically seen as a "pill-rolling" action of the hands but may also affect the chin, lips, legs, and trunk. Dystonic tremor occurs in individuals of all ages who are affected by dystonia, a movement disorder in which sustained involuntary muscle contractions cause twisting motions or painful postures or positions.
Question: What is (are) Progressive Supranuclear Palsy ?
Answer: Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. One of the classic signs of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some individuals describe this effect as a blurring. Affected individualsoften show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia.
The disorder's long name indicates that the disease begins slowly and continues to get worse (progressive), and causes weakness (palsy) by damaging certain parts of the brain above pea-sized structures called nuclei that control eye movements (supranuclear).
PSP was first described as a distinct disorder in 1964, when three scientists published a paper that distinguished the condition from Parkinson's disease. It is sometimes referred to as Steele-Richardson-Olszewski syndrome, reflecting the combined names of the scientists who defined the disorder. Although PSP gets progressively worse, no one dies from PSP itself.
Question: What is (are) Dravet Syndrome ?
Answer: Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of epilepsy. It appears during the first year of life with frequent febrile seizures fever-related seizures that, by definition, are rare beyond age 5. Later, other types of seizures typically arise, including myoclonus (involuntary muscle spasms). Status epilepticus a state of continuous seizure requiring emergency medical care also may occur. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.
In 30 to 80 percent of cases, Dravet syndrome is caused by defects in a gene required for the proper function of brain cells. Borderline SMEI (SMEB) and another type of infant-onset epilepsy called generalized epilepsy with febrile seizures plus (GEFS+) are caused by defects in the same gene. In GEFS+, febrile seizures may persist beyond age 5.
Question: What is (are) Mucolipidoses ?
Answer: The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the bodys ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells. Because our cells are not able to handle such large amounts of these substances, damage to the cells occurs, causing symptoms that range from mild learning disabilities to severe intellectual impairment and skeletal deformities.
The group includes four diseases:
- Mucolipidosis I (sialidosis) - Mucolipidosis II (inclusion-cell, or I-cell, disease) - Mucolipidosis III (pseudo-Hurler polydystrophy) - Mucolipidosis IV
The MLs are classified as lysosomal storage diseases because they involve increased storage of substances in the lysosomes, which are specialized sac-like components within most cells. Individuals with ML are born with a genetic defect in which their bodies either do not produce enough enzymes or, in some instances, produce ineffective forms of enzymes. Without functioning enzymes, lysosomes cannot break down carbohydrates and lipids and transport them to their normal destination. The molecules then accumulate in the cells of various tissues in the body, leading to swelling and damage of organs.
The mucolipidoses occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs.
Question: What is (are) Leigh's Disease ?
Answer: Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.Rarely, it occurs in teenagers and adults.Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.
In Leighs disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements.The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate ( ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions.
There is also a form of Leighs disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome.