sarnsrun/medquad huggingface dataset:
Topic: Periventricular Leukomalacia
Question: What is the outlook for Periventricular Leukomalacia ?
Answer: The prognosis for individuals with PVL depends upon the severity of the brain damage. Some children exhibit fairly mild symptoms, while others have significant deficits and disabilities.
Source: NINDS
Topic: Periventricular Leukomalacia
Question: what research (or clinical trials) is being done for Periventricular Leukomalacia ?
Answer: The NINDS supports and conducts research on brain injuries such as PVL. Much of this research is aimed at finding ways to prevent and treat these disorders.
Source: NINDS
Topic: Congenital Myopathy
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.
Source: NINDS
Topic: Congenital Myopathy
Question: What are the treatments for Congenital Myopathy ?
Answer: Currently, only central core disease has an effective treatment (see above). There are no known cures for any of these disorders. Supportive treatment may involve orthopedic treatments, as well as physical, occupational or speech therapy.
Source: NINDS
Topic: Congenital Myopathy
Question: What is the outlook for Congenital Myopathy ?
Answer: When breathing difficulties are severe, and particularly if there is also a problem with feeding and swallowing, infants may die of respiratory failure or complications such as pneumonia. Sometimes muscle weakness can lead to skeletal problems, such as scoliosis, reduced mobility of joints, or hip problems. The heart muscle is rarely involved.
Source: NINDS
Topic: Congenital Myopathy
Question: what research (or clinical trials) is being done for Congenital Myopathy ?
Answer: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to congenital myopathies in their 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 better ways to prevent, treat, and ultimately cure the disorders that make up the congenital myopathies.
Source: NINDS
Topic: Zellweger Syndrome
Question: What is (are) Zellweger Syndrome ?
Answer: Zellweger syndrome is one of a group of four related diseases called peroxisome biogenesis disorders (PBD). The diseases are caused by defects in any one of 13 genes, termed PEX genes, required for the normal formation and function of peroxisomes. The PBDs are divided into two groups: Zellweger spectrum disorders and Rhizomelic Chondrodysplasia Punctua spectrum. The Zellweger spectrum is comprised of three disorders that have considerable overlap of features. These include Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least severe form).
                
Peroxisomes are cell structures that break down toxic substances and synthesize lipids (fatty acids. oils, and waxes) that are necessary for cell function. Peroxisomes are required for normal brain development and function and the formation of myelin, the whitish substance that coats nerve fibers. They are also required for normal eye, liver, kidney, and bone functions. Zellweger spectrum disorders result from dysfunctional lipid metabolism, including the over-accumulation of very long-chain fatty acids and phytanic acid, and defects of bile acids and plasmalogens--specialized lipids found in cell membranes and myelin sheaths of nerve fibers. Symptoms of these disorders include an enlarged liver; characteristic facial features such as a high forehead, underdeveloped eyebrow ridges, and wide-set eyes; and neurological abnormalities such as cognitive impairment and seizures. Infants will Zellweger syndrome also lack muscle tone, sometimes to the point of being unable to move, and may not be able to suck or swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.
Source: NINDS
Topic: Zellweger Syndrome
Question: What are the treatments for Zellweger Syndrome ?
Answer: There is no cure for Zellweger syndrome, nor is there a standard course of treatment. Since the metabolic and neurological abnormalities that cause the symptoms of Zellweger syndrome are caused during fetal development, treatments to correct these abnormalities after birth are limited. Most treatments are symptomatic and supportive.
Source: NINDS
Topic: Zellweger Syndrome
Question: What is the outlook for Zellweger Syndrome ?
Answer: The prognosis for infants with Zellweger syndrome is poor. Most infants do not survive past the first 6 months, and usually succumb to respiratory distress, gastrointestinal bleeding, or liver failure.
Source: NINDS
Topic: Zellweger Syndrome
Question: what research (or clinical trials) is being done for Zellweger Syndrome ?
Answer: The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, and also support additional research through grants to major research institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as Zellweger syndrome.
Source: NINDS
Topic: Parkinson's Disease
Question: What is (are) Parkinson's Disease ?
Answer: Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. As these symptoms become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. PD usually affects people over the age of 60. Early symptoms of PD are subtle and occur gradually. In some people the disease progresses more quickly than in others. As the disease progresses, the shaking, or tremor, which affects the majority of people with PD may begin to interfere with daily activities. Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions. There are currently no blood or laboratory tests that have been proven to help in diagnosing sporadic PD. Therefore the diagnosis is based on medical history and a neurological examination. The disease can be difficult to diagnose accurately. Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases.
Source: NINDS
Topic: Parkinson's Disease
Question: What are the treatments for Parkinson's Disease ?
Answer: At present, there is no cure for PD, but a variety of medications provide dramatic relief from the symptoms. Usually, affected individuals are given levodopa combined with carbidopa. Carbidopa delays the conversion of levodopa into dopamine until it reaches the brain. Nerve cells can use levodopa to make dopamine and replenish the brain's dwindling supply. Although levodopa helps at least three-quarters of parkinsonian cases, not all symptoms respond equally to the drug. Bradykinesia and rigidity respond best, while tremor may be only marginally reduced. Problems with balance and other symptoms may not be alleviated at all. Anticholinergics may help control tremor and rigidity. Other drugs, such as bromocriptine, pramipexole, and ropinirole, mimic the role of dopamine in the brain, causing the neurons to react as they would to dopamine. An antiviral drug, amantadine, also appears to reduce symptoms. In May 2006, the FDA approved rasagiline to be used along with levodopa for patients with advanced PD or as a single-drug treatment for early PD.
                
In some cases, surgery may be appropriate if the disease doesn't respond to drugs. A therapy called deep brain stimulation (DBS) has now been approved by the U.S. Food and Drug Administration. In DBS, electrodes are implanted into the brain and connected to a small electrical device called a pulse generator that can be externally programmed. DBS can reduce the need for levodopa and related drugs, which in turn decreases the involuntary movements called dyskinesias that are a common side effect of levodopa. It also helps to alleviate fluctuations of symptoms and to reduce tremors, slowness of movements, and gait problems. DBS requires careful programming of the stimulator device in order to work correctly.
Source: NINDS
Topic: Parkinson's Disease
Question: What is the outlook for Parkinson's Disease ?
Answer: PD is both chronic, meaning it persists over a long period of time, and progressive, meaning its symptoms grow worse over time. Although some people become severely disabled, others experience only minor motor disruptions. Tremor is the major symptom for some individuals, while for others tremor is only a minor complaint and other symptoms are more troublesome. It is currently not possible to predict which symptoms will affect an individual, and the intensity of the symptoms also varies from person to person.
Source: NINDS
Topic: Parkinson's Disease
Question: what research (or clinical trials) is being done for Parkinson's Disease ?
Answer: The National Institute of Neurological Disorders and Stroke (NINDS) conducts PD research in laboratories at the National Institutes of Health (NIH) and also supports additional research through grants to major medical institutions across the country. Current research programs funded by the NINDS are using animal models to study how the disease progresses and to develop new drug therapies. Scientists looking for the cause of PD continue to search for possible environmental factors, such as toxins, that may trigger the disorder, and study genetic factors to determine how defective genes play a role. Other scientists are working to develop new protective drugs that can delay, prevent, or reverse the disease.
                
http://www.ninds.nih.gov/research/parkinsonsweb/index.htm
Source: NINDS
Topic: Bell's Palsy
Question: What is (are) Bell's Palsy ?
Answer: Bell's palsy is a form of temporary facial paralysis resulting from damage or trauma to the 7th cranial nerve, one of the facial nerves. It is the most common cause of facial paralysis. Generally, Bell's palsy affects only one side of the face, however, in rare cases, it can affect both sides. Symptoms usually begin suddenly and reach their peak within 72 hours, and can range in severity from mild weakness to total paralysis. Symptoms vary among individuals and include sudden weakness on one side of the face, drooping eyelid or corner of the mouth, drooling, dry eye or mouth, altered taste, and excessive tearing in the eye. Bells palsy can cause significant facial distortion. The exact cause of Bell's palsy isn't known, but many scientists believe that reactivation of a dormant viral infection can cause the facial nerve to swell and becomes inflamed. Several other conditions can cause facial paralysis that might be diagnosed as Bell's palsy..
Source: NINDS
Topic: Bell's Palsy
Question: What are the treatments for Bell's Palsy ?
Answer: Steroids such as prednisone -- used to reduce inflammation and swelling -- are an effective treatment for Bell's palsy. Antiviral drugs may have some benefit in shortening the course of the disease. Analgesics such as aspirin, acetaminophen, or ibuprofen may relieve pain. Because of possible drug interactions, individuals should always talk to their doctors before taking any over-the-counter medicines. Keeping the eye moist and protecting it from debris and injury, especially at night, is important. Lubricating eye drops can help. Other therapies such as physical therapy, facial massage or acupuncture may provide a potential small improvement in facial nerve function and pain..
Source: NINDS
Topic: Bell's Palsy
Question: What is the outlook for Bell's Palsy ?
Answer: The prognosis for individuals with Bell's palsy is generally very good. The extent of nerve damage determines the extent of recovery. With or without treatment, most individuals begin to get better within 2 weeks after the initial onset of symptoms and recover some or all facial function within 3 to 6 months.
Source: NINDS
Topic: Bell's Palsy
Question: what research (or clinical trials) is being done for Bell's Palsy ?
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 conducts and supports an extensive research program of basic science to increase understanding of how the nervous system works and circumstances that lead to nerve damage. Knowledge gained from this research may help scientists find the definitive cause of Bell's palsy, leading to the discovery of new effective treatments for the disorder. Other NINDS-supported research is aimed at developing methods to repair damaged nerves and restore full use and strength to injured areas, and finding ways to prevent nerve damage and injuries from occurring.
Source: NINDS
Topic: Whipple's Disease
Question: What is (are) Whipple's Disease ?
Answer: Whipple's disease is a multi-system infectious bacterial disease that interferes with the body's ability to metabolize fats. Caused by the bacterium Tropheryma whipplei, the disorder can affect any system in the body, including the brain, eyes, heart, joints, and lungs, but usually occurs in the gastrointestinal system. Neurological symptoms occur in up to 40 percent of individuals and may include dementia, abnormalities of eye and facial muscle movements, headaches, seizures, loss of muscle control, memory loss, weakness, and vision problems. Gastrointestinal symptoms may include diarrhea, weight loss, fatigue, weakness, and abdominal bleeding and pain. Fever, cough, anemia, heart and lung damage, darkening of the skin, and joint soreness may also be present. The disease is more common in men and neurological symptoms are more common in individuals who have severe abdominal disease, Rarely, neurological symptoms may appear without gastrointestinal symptoms and can mimic symptoms of almost any neurologic disease..
Source: NINDS
Topic: Whipple's Disease
Question: What are the treatments for Whipple's Disease ?
Answer: The standard treatment for Whipple's disease is a prolonged course of antibiotics (up to two years), including penicillin and cefriaxone or doxycycline with hydroxychloroquine. Sulfa drugs (sulfonamides) such as sulfadizine or solfamethoxazole can treat neurological symptoms. Relapsing neurologic Whipple's disease. (marked by bouts of worsening of symptoms) is sometimes treated with a combination of antibiotics and weekly injections of interfron gamma, a substance made by the body that activates the immune system.
Source: NINDS
Topic: Whipple's Disease
Question: What is the outlook for Whipple's Disease ?
Answer: Generally, long-term antibiotic treatment to destroy the bacteria can relieve symptoms and cure the disease. If left untreated, the disease is progressive and fatal. Individuals with involvement of the central nervous system generally have a worse prognosis and may be left with permanent neurologic disability. Deficits may persist and relapses may still occur in individuals who receive appropriate treatment in a timely fashion. Prognosis may improve with earlier recognition, diagnosis, and treatment of the disorder.
Source: NINDS
Topic: Whipple's Disease
Question: what research (or clinical trials) is being done for Whipple's Disease ?
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 supportsa broad range of research on disorders that affect the central nervous system. The National Institute of Diabetes and Digestive and Kidney Diseases also supports research on disorders such as Whipple's disease. Much of this research is aimed at learning more about these disorders and finding ways to prevent, treat, and, ultimately, cure them.
Source: NINDS
Topic: Hypotonia
Question: What is (are) Hypotonia ?
Answer: Hypotonia is a medical term used to describe decreased muscle tone. Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement. It is not the same as muscle weakness, although the two conditions can co-exist. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract. Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles. The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders. For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes the hypotonia. Infants with hypotonia have a floppy quality or rag doll appearance because their arms and legs hang by their sides and they have little or no head control. Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, ligament and joint laxity, and poor reflexes. Hypotonia does not affect intellect. The opposite of hypotonia is hypertonia.
Source: NINDS
Topic: Hypotonia
Question: What are the treatments for Hypotonia ?
Answer: Treatment begins with a thorough diagnostic evaluation, usually performed by a neurologist, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves. Diagnostic tests that may be helpful include a CT or MRI scan of the brain, an EMG to evaluate nerve and muscle function, or an EEG to measure electrical activity in the brain. Once a diagnosis has been made, the underlying condition is treated first, followed by symptomatic and supportive therapy for the hypotonia. Physical therapy can improve motor control and overall body strength. Occupational therapy can help relearn ways to address activities of daily living. Speech-language therapy can help breathing, speech, and swallowing difficulties. Therapy for infants and young children may also include sensory stimulation programs.
Source: NINDS
Topic: Hypotonia
Question: What is the outlook for Hypotonia ?
Answer: Hypotonia can be a life-long condition. In some cases, however, muscle tone improves over time.
Source: NINDS
Topic: Hypotonia
Question: what research (or clinical trials) is being done for Hypotonia ?
Answer: The NINDS supports research on conditions that can result from neurological disorders, such as hypotonia. Much of this research is aimed at learning more about these conditions and finding ways to prevent and treat them.
Source: NINDS
Topic: Myoclonus
Question: What is (are) Myoclonus ?
Answer: Myoclonus refers to a sudden, involuntary jerking of a muscle or group of muscles. In its simplest form, myoclonus consists of a muscle twitch followed by relaxation. A hiccup is an example of this type of myoclonus. Other familiar examples of myoclonus are the jerks or "sleep starts" that some people experience while drifting off to sleep. These simple forms of myoclonus occur in normal, healthy persons and cause no difficulties. When more widespread, myoclonus may involve persistent, shock-like contractions in a group of muscles. Myoclonic jerking may develop in people with multiple sclerosis, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered and leads to seizures. Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders. It can occur by itself, but most often it is one of several symptoms associated with a wide variety of nervous system disorders.
Source: NINDS
Topic: Myoclonus
Question: What are the treatments for Myoclonus ?
Answer: Treatment of myoclonus focuses on medications that may help reduce symptoms. The drug of first choice is clonazepam, a type of tranquilizer. Many of the drugs used for myoclonus, such as barbiturates, phenytoin, and primidone, are also used to treat epilepsy. Sodium valproate is an alternative therapy for myoclonus and can be used either alone or in combination with clonazepam. Myoclonus may require the use of multiple drugs for effective treatment.
Source: NINDS