Searching across hundreds of databases
Integrated Disease is a virtual database that indexes authoritative information on disease and treatment options from: NINDS Disorder List and PubMed Health.
(last updated: Jan 10, 2022)
Disease Information| Database | Name | Synonym | Description | Symptoms | Treatment | Prognosis |
|---|---|---|---|---|---|---|
| NINDS Disorder List | Cockayne Syndrome Type II | Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosumgenes "XPG" or "XPD." Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome). | Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. | COFS is a fatal disease. Most children do not live beyond five years. | ||
| NINDS Disorder List | Cerebro-Oculo-Facio-Skeletal Syndrome (COFS) | Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosumgenes "XPG" or "XPD." Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome). | Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. | COFS is a fatal disease. Most children do not live beyond five years. | ||
| NINDS Disorder List | Migraine | The pain of a migraine headache is often described as an intense pulsing or throbbing pain in one area of the head. However, it is much more; the International Headache Society diagnoses a migraine by its pain and number of attacks (at least 5, lasting 4-72 hours if untreated), and additional symptoms including nausea and/or vomiting, or sensitivity to both light and sound. Migraine is three times more common in women than in men and affects more than 10 percent of people worldwide. Roughly one-third of affected individuals can predict the onset of a migraine because it is preceded by an "aura," visual disturbances that appear as flashing lights, zig-zag lines or a temporary loss of vision. People with migraine tend to have recurring attacks triggered by a number of different factors, including stress, anxiety, hormonal changes, bright or flashing lights, lack of food or sleep, and dietary substances. Migraine in some women may relate to changes in hormones and hormonal levels during their menstrual cycle. For many years, scientists believed that migraines were linked to the dilation and constriction of blood vessels in the head. Investigators now believe that migraine has a genetic cause. | There is no absolute cure for migraine since its pathophysiology has yet to be fully understood. There are two ways to approach the treatment of migraine headache with drugs: prevent the attacks, or relieve the symptoms during the attacks. Prevention involves the use of medications and behavioral changes. The U.S. Food and Drug Administration (FDA) has approved erenumab (Aimovig) to prevent migraine in adults. The drug works by blocking the activity of calcitonin gene-related peptide, a molecule that is involved in migraine attacks. The FDA also has approved lasmiditan (Reyvow) for short-term treatment of migraine with our without aura.The FDA also has approved ubrogepant tablets (Ubrelvy) for immediate treatment of migraine with or without aura. Drugs originally developed for epilepsy, depression, or high blood pressure to prevent future attacks have been shown to be extremely effective in treating migraine. Botulinum toxin A has been shown to be effective in prevention of chronic migraine. Behaviorally, stress management strategies, such as exercise, relaxation techniques, biofeedback mechanisms, and other therapies designed to limit daily discomfort, may reduce the number and severity of migraine attacks. Making a log of personal triggers of migraine can also provide useful information for trigger-avoiding lifestyle changes, including dietary considerations, eating regularly scheduled meals with adequate hydration, stopping certain medications, and establishing a consistent sleep schedule. Hormone therapy may help some women whose migraines seem to be linked to their menstrual cycle. A weight loss program is recommended for obese individuals with migraine. Relief of symptoms, or acute treatments, during attacks consists of sumatriptan, ergotamine drugs, and analgesics such as ibuprofen and aspirin. The sooner these treatments are administered, the more effective they are. | Responsive prevention and treatment of migraine is incredibly important. Evidence shows an increased sensitivity after each successive attack, eventually leading to chronic daily migraine in some individuals With proper combination of drugs for prevention and treatment of migraine attacks most individuals can overcome much of the discomfort from this debilitating disorder. Women whose migraine attacks occur in association with their menstrual cycle are likely to have fewer attacks and milder symptoms after menopause. | ||
| NINDS Disorder List | Leigh's Disease | 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 Leigh’s 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 Leigh’s 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. | The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. Researchers are currently testing dichloroacetate to establish its effectiveness in treating lactic acidosis. In individuals who have the X-linked form of Leigh’s disease, a high-fat, low-carbohydrate diet may be recommended. | The prognosis for individuals with Leigh's disease is poor. Individuals who lack mitochondrial complex IV activity and those with pyruvate dehydrogenase deficiency tend to have the worst prognosis and die within a few years. Those with partial deficiencies have a better prognosis, and may live to be 6 or 7 years of age. Some have survived to their mid-teenage years. | ||
| NINDS Disorder List | Syncope | Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or “passing out.” If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may “white out” or “black out.” The skin may be cold and clammy. The person drops to the floor as he or she loses consciousness. After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal. Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly. There are several types of syncope. Vasovagal syncope usually has an easily identified triggering event such as emotional stress, trauma, pain, the sight of blood, or prolonged standing. Carotid sinus syncope happens because of constriction of the carotid artery in the neck and can occur after turning the head, while shaving, or when wearing a tight collar. Situational syncope happens during urination, defecation, coughing, or as a result of gastrointestinal stimulation. Syncope can also be a symptom of heart disease or abnormalities that create an uneven heart rate or rhythm that temporarily affect blood volume and its distribution in the body. Syncope isn’t normally a primary sign of a neurological disorder, but it may indicate an increased risk for neurologic disorders such as Parkinson’s disease, postural orthostatic tachycardia syndrome (POTS), diabetic neuropathy, and other types of neuropathy. Certain classes of drugs are associated with an increased risk of syncope, including diuretics, calcium antagonists, ACE inhibitors, nitrates, antipsychotics, antihistamines, levodopa, narcotics, and alcohol. | The immediate treatment for an individual who has fainted involves checking first to see if their airway is open and they are breathing. The person should remain lying down for at least 10-15 minutes, preferably in a cool and quiet space. If this isn’t possible, have the individual sit forward and lower their head below their shoulders and between their knees. Ice or cold water in a cup is refreshing. For individuals who have problems with chronic fainting spells, therapy should focus on recognizing the triggers and learning techniques to keep from fainting. At the appearance of warning signs such as lightheadedness, nausea, or cold and clammy skin, counter-pressure maneuvers that involve gripping fingers into a fist, tensing the arms, and crossing the legs or squeezing the thighs together can be used to ward off a fainting spell. If fainting spells occur often without a triggering event, syncope may be a sign of an underlying heart disease. | Syncope is a dramatic event and can be life-threatening if not treated properly. Generally, however, people recover completely within minutes to hours. If syncope is symptomatic of an underlying condition, then the prognosis will reflect the course of the disorder. | ||
| NINDS Disorder List | Headache | Headache is our most common form of pain and a major reason cited for days missed at work or school as well as visits to the doctor. The International Classification of Headache Disorders, published by the International Headache Society, is used to classify more than 150 types of primary and secondary headache disorders. Primary headaches occur independently and are not caused by another medical condition. Migraine, cluster, and tension-type headache are the more familiar types of primary headache. Secondary headaches are symptoms of another health disorder that causes pain-sensitive nerve endings to be pressed on or pulled or pushed out of place. They may result from underlying conditions including fever, infection, medication overuse, stress or emotional conflict, high blood pressure, psychiatric disorders, head injury or trauma, stroke, tumors, and nerve disorders (particularly trigeminal neuralgia, a chronic pain condition that typically affects a major nerve on one side of the jaw or cheek). Headaches can range in frequency and severity of pain. Some individuals may experience headaches once or twice a year, while others may experience headaches more than 15 days a month. Pain can range from mild to disabling and may be accompanied by symptoms such as nausea or increased sensitivity to noise or light, depending on the type of headache. | When headaches occur three or more times a month, preventive treatment is usually recommended. Migraine treatment is aimed at relieving symptoms and preventing additional attacks. Drug therapy, biofeedback training, stress reduction, and elimination of certain foods from the diet are the most common methods of preventing and controlling migraine and other vascular headaches. Drug therapy for migraine is often combined with biofeedback and relaxation training. One of the most commonly used drugs for the relief of migraine symptoms is sumatriptan. The first step in caring for a tension-type headache involves treating any specific disorder or disease that may be causing it. A physician may suggest using analgesics, nonsteroidal anti-inflammatory drugs, or antidepressants to treat a tension-type headache that is not associated with a disease. The Food and Drug Administration has approved galcanezumab-gnlm (Emgality) injections to reduce the frequency of episodic headache attacks. The drug was previously approved by the FDA to prevent migraine in adults. Other treatment for cluster headache includes triptan drugs, non-invasive vagus nerve stimulation (which uses a hand-held device to transmit a mild electrical stimulation to the vagus nere throgh the skin), and oxygen therapy (in which pure oxygen is breathed through a mask to reduce blood flow to the brain). Certain antipsychotic drugs, calcium-channel blockers, and anticonvulsants can reduce pain severity and frequency of cluster headache attacks. The FDA also has approved lasmiditan (Reyvow) and ubrogepant (Ubrelvy) tablets for acute treatment of migraine with our without aura. | Not all headaches require medical attention. But some types of headache are signals of more serious disorders and call for prompt medical care. These include: sudden, severe headache or sudden headache associated with a stiff neck; headaches associated with fever, convulsions, or accompanied by confusion or loss of consciousness; headaches following a blow to the head, or associated with pain in the eye or ear; persistent headache in a person who was previously headache free; and recurring headache in children. Migraine headaches may last a day or more and can strike as often as several times a week or as rarely as once every few years. | ||
| NINDS Disorder List | Hemiplegia Alterans | Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. Oftentimes these episodes will resolve after sleep. Affected children may also have abnormal movements involving stiffening or "dance-like" movements of a limb, as well as walking and balance problems. Some children have seizures. Children may have normal or delayed development. There are both benign and more serious forms of the disorder. Alternating hemiplegia is primarily caused by mutations in the ATP1A3 gene. Occasionally, a mutation in the ATP1A2 gene is involved in the condition. These genes provide instructions for making very similar proteins. Mutations in these genes reduce the activity of an enzyme called Na+/K+ ATPase, which affects the signals that control muscle movement. However, it not yet clear how the reduced enzyme activity leads to the symptoms of the disorder. | Drug therapy including verapamil may help to reduce the severity and duration of attacks of paralysis associated with the more serious form of alternating hemiplegia | Children with the benign form of alternating hemiplegia have a good prognosis. Those who experience the more severe form have a poor prognosis because intellectual and mental capacities do not respond to drug therapy, and balance and gait problems continue. Over time, walking unassisted becomes difficult or impossible. | ||
| NINDS Disorder List | Central Pain Syndrome | Central pain syndrome is a neurological condition caused by damage to or dysfunction of the central nervous system (CNS), which includes the brain, brainstem, and spinal cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or Parkinson's disease. The character of the pain associated with this syndrome differs widely among individuals partly because of the variety of potential causes. Central pain syndrome may affect a large portion of the body or may be more restricted to specific areas, such as hands or feet. The extent of pain is usually related to the cause of the CNS injury or damage. Pain is typically constant, may be moderate to severe in intensity, and is often made worse by touch, movement, emotions, and temperature changes, usually cold temperatures. Individuals experience one or more types of pain sensations, the most prominent being burning. Mingled with the burning may be sensations of "pins and needles;" pressing, lacerating, or aching pain; and brief, intolerable bursts of sharp pain similar to the pain caused by a dental probe on an exposed nerve. Individuals may have numbness in the areas affected by the pain. The burning and loss of touch sensations are usually most severe on the distant parts of the body, such as the feet or hands. Central pain syndrome often begins shortly after the causative injury or damage, but may be delayed by months or even years, especially if it is related to post-stroke pain. | Pain medications often provide some reduction of pain, but not complete relief of pain, for those affected by central pain syndrome. Tricyclic antidepressants such as nortriptyline or anticonvulsants such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain. | Central pain syndrome is not a fatal disorder, but the syndrome causes disabling chronic pain and suffering among the majority of individuals who have it. | ||
| NINDS Disorder List | Multiple Sclerosis | An unpredictable disease of the central nervous system, multiple sclerosis (MS) can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted. Many investigators believe MS to be an autoimmune disease -- one in which the body, through its immune system, launches a defensive attack against its own tissues. In the case of MS, it is the nerve-insulating myelin that comes under assault. Such assaults may be linked to an unknown environmental trigger, perhaps a virus. Most people experience their first symptoms of MS between the ages of 20 and 40; the initial symptom of MS is often blurred or double vision, red-green color distortion, or even blindness in one eye. Most MS patients experience muscle weakness in their extremities and difficulty with coordination and balance. These symptoms may be severe enough to impair walking or even standing. In the worst cases, MS can produce partial or complete paralysis. Most people with MS also exhibit paresthesias, transitory abnormal sensory feelings such as numbness, prickling, or "pins and needles" sensations. Some may also experience pain. Speech impediments, tremors, and dizziness are other frequent complaints. Occasionally, people with MS have hearing loss. Approximately half of all people with MS experience cognitive impairments such as difficulties with concentration, attention, memory, and poor judgment, but such symptoms are usually mild and are frequently overlooked. Depression is another common feature of MS. | Currently there is no cure for MS. Many individuals do well with no therapy at all, especially since many medications have serious side effects and some carry significant risks. Steroid drugs may be prescribed to treat acute symptoms of an attack, such as inflammation; they do not affect the course of the disease over time. Several drugs have been approved by the U.S. Food and Drug Administration (FDA) to treat one or more forms of multiple sclerosis, either by decreasing attack frequency and severity, treating relapses, or delaying disease progression. Some drugs are taken intravenously, some by infusion, and some oral. All drugs should be prescribed and closely monitored by specially trained physicians, as some medications have serious side effects. In March 2019 the FDA approved siponimod tablets taken orally by adults to treat relapsing- forms of MS. Beta interferon drugs have been shown to reduce the number of relapses (exacerbations) and may slow the progression of disease. FDA-approved beta interferon drugs for MS include Avonex, Betaseron, Extavia, and Refib. Monoclonal antibody drugs are designed to alter the immune system response to inflammation. Approved drugs include Ocrevus, Lemtrada, and Tysabri. Other drugs approved include Copaxone, Gilenya, Aubagio, and Tecfidera, all of which address relapsng forms of MS. An immunosuppressant treatment, Novantrone, is approved for the treatment of advanced or chronic MA. Ampyra can improve walking in individuals with MS. Spasticity, which can occur either as a sustained stiffness caused by increased muscle tone or as spasms that come and go, is usually treated with muscle relaxants and tranquilizers such as baclofen, tizanidine, diazepam, clonazepam, and dantrolene. Physical therapy and exercise can help preserve remaining function, and individuals may find that various aids -- such as foot braces, canes, and walkers -- can help them remain independent and mobile. Avoiding excessive activity and avoiding heat are probably the most important measures patients can take to counter physiological fatigue. If psychological symptoms of fatigue such as depression or apathy are evident, antidepressant medications may help. Other drugs that may reduce fatigue in some, but not all, patients include Symmetrel and Cylert. Although improvement of optic symptoms usually occurs even without treatment, a short course of treatment with intravenous methylprednisolone (Solu-Medrol) followed by treatment with oral steroids is sometimes used. For more information, see Multiple Sclerosis: Hope Through Research. | A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment. | ||
| NINDS Disorder List | Pena Shokeir II Syndrome | Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Symptoms may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and impaired cognitive development, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Ultrasound technology can detect fetuses with COFS at an early stage of pregnancy, as the fetus moves very little, and some of the abnormalities result, in part, from lack of movement. A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosumgenes "XPG" or "XPD." Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome). | Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available. | COFS is a fatal disease. Most children do not live beyond five years. | ||
| NINDS Disorder List | Neurofibromatosis | The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system. The tumors begin in the supporting cells that make up the nerves and the myelin sheath--the thin membrane that envelops and protects the nerves. These disorders cause tumors to grow on nerves and, less frequently, in the brain and spinal cord, and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. There are three forms of neurofibromatosis (NF): NF1 is the more common type of the disorder. Symptoms of NF1, which may be evident at birth and nearly always by the time the child is 10 years old, may include light brown spots on the skin ("cafe-au-lait" spots), two or more growths on the iris of the eye, a tumor on the optic nerve, a larger than normal head circumference, and abnormal development of the spine, a skull bone, or the tibia. NF2 is less common and is characterized by slow-growing tumors on the vestibular branch of the right and left eighth cranial nerves, which are called vestibular schwannomas or acoustic neuromas.. The tumors press on and damage neighboring nerves and reduce hearing. The distinctive feature of schwannomatosis is the development of multiple schwannomas (tumors made up of certain cells) everywhere in the body except on the vestibular branch of the 8th cranial nerve. The dominant symptom is pain, which develops as a schwannoma enlarges or compresses nerves or adjacent tissue. Some people may develop numbness, tingling, or weakness in the fingers and toes. | Treatment may include surgery, focused radiation, or chemotherapy. In April 2020 the U.S. Food and Drug Administration approved selumetinib (Koselugo) as a treatment for children ages 2 years and older with neurofibromatosis type 1. The drug helps to stop tumor cells from growing. Surgery to remove NF2 tumors completely is one option. Surgery for vestibular schwannomas does not restore hearing and usually reduces hearing. Sometimes surgery is not performed until functional hearing is lost completely. Surgery may result in damage to the facial nerve and some degree of facial paralysis. Focused radiation of vestibular schwannoma carries of a lower risk of facial paralysis than open surgery, but is more effective o shrinking small to moderate tumors than larger tumors. Chemotherapy with a drug that targets the blood vessels of vestibular schwannoma can reduce the size of the tumor and improves hearing, but some tumors do not respond at all and sometimes respond only temporarily. Bone malformations can often be corrected surgically, and surgery can also correct cataracts and retinal abnormalities. Pain usually subsides when tumors are removed completely. | In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. Loss of hearing in both ears develops in most individuals with NF2. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling. | ||
| NINDS Disorder List | Anencephaly | Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur. The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved. Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily. | There is no cure or standard treatment for anencephaly. Treatment is supportive. | The prognosis for babies born with anencephaly is extremely poor. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth. | ||
| NINDS Disorder List | Alexander Disease | Alexander disease is one of a group of neurological conditions known as the leukodystrophies. Leukodystrophies are disorders that result from abnormalities in myelin, the “white matter” that protects nerve fibers in the brain. In Alexander disease, the destruction of white matter is accompanied by the formation of Rosenthal fibers--abnormal clumps of protein that accumulate in non-nerve cells (astrocytes) in the brain. The most common type of Alexander disease is the infantile form that usually begins during the first two years of life. Symptoms include mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease has an onset between the ages of two and thirteen years. These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control. Adult-onset forms of Alexander disease are less common. The symptoms sometimes mimic those of Parkinson’s disease or multiple sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution. Alexander disease is a progressive and often fatal disease. | There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. | The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6. Juvenile and adult onset forms of the disorder have a slower, more lengthy course. | ||
| NINDS Disorder List | Parkinson's Disease | Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which cause unintended or uncontrollable movements of the body. The precise cause of PD is unknown, but some cases are hereditary while others are thought to occur from a combination of genetics and environmental factors that trigger the disease. In PD, brain cells become damaged or die in the part of the brain that produces dopamine--a chemical needed to produce smooth, purposeful movement. The four primary symptoms of PD are: tremor--shaking that has a characteristic rhythmic back and forth motion rigidity--muscle stiffness or a resistance to movement, where muscles remain constantly tense and contracted bradykinesia--slowing of spontaneous and automatic movement that can make it difficult to perform simple tasks or rapidly perform routine movements postural instability--impaired balance and changes in posture that can increase the risk of falls. Other symptoms may include difficulty swallowing, chewing, or speaking; emotional changes; urinary problems or constipation; dementia or other cognitive problems; fatigue; and problems sleeping. PD usually affects people around the age of 70 years but can occur earlier. PD affects men more than women. Currently there are no specific tests that diagnose sporadic PD. | 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 most people with PD, not everyone responds 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. Anticholinergic drugs may help control tremor and rigidity. Other drugs, such as pramipexole, apomorphine, and ropinirole, mimic the role of dopamine in the brain, causing the nerve cells to react as they would to dopamine. An antiviral drug, amantadine, also appears to reduce symptoms. Safinamide tablets, istradefylline tablets, and opicapone are add-on treatments for individuals with PD who are currently taking levodopa/carbidopa and experiencing "off" episodes (when the person's medications are not working well, causing an increase in PD symptoms). Other drugs to treat PD include COMT inhibitors, which prolong the effects of levodopa by preventing the breakdown of dopamine, and MAO-B inhibitors, which block or reduce activity of the MAO-B enzyme that breaks down dopamine in the brain. In some cases, surgery may be appropriate if the disease doesn't respond to drugs. One option is deep brain stimulation (DBS), in which electrodes are implanted into the brain and connected to a small electrical device called a pulse generator to painlessly stimulate the brain to block signals that cause many of the motor symptomms of PD. DBS is generally appropriate for people with levodopa-responsive PD who have developed dyskinesias or other disabling "off" symptoms despite drug therapy. However, DBS does not stop PD from progressing and some problems may gradually return. | 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. | ||
| NINDS Disorder List | Brain and Spinal Tumors | Tumors of the brain and spinal cord are abnormal growths of tissue found inside the skull or the bony spinal column. The brain and spinal cord are the primary components of the central nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. The CNS is housed within rigid, bony quarters (i.e., the skull and spinal column), so any abnormal growth, whether benign or malignant, can place pressure on sensitive tissues and impair function. Tumors that originate in the brain or spinal cord are called primary tumors. Most primary tumors are caused by out-of-control growth among cells that surround and support neuron, specific genetic disease (such as neurofibromatosis type 1 and tuberous sclerosis), or from exposure to radiation or cancer-causing chemicals. Metastatic, or secondary, tumors in the CNS are caused by cancer cells that break away from a primary tumor located in another region of the body. Tumors can place pressure on sensitive tissues and impair function..Symptoms of brain tumors include headaches, seizures, nausea and vomiting, poor vision or hearing, changes in behavior, unclear thinking, and unsteadiness. Spinal cord tumor symptoms include pain, numbness, and paralysis. Diagnosis is made after a neurological examination, special imaging techniques (computed tomography, and magnetic resonance imaging, positron emission tomography), laboratory tests, and a biopsy (in which a sample of tissue is taken from a suspected tumor and examined). | The three most commonly used treatments are surgery, radiation, and chemotherapy. Doctors also may prescribe steroids to reduce the tumor-related swelling inside the CNS. | Symptoms of brain and spinal cord tumors generally develop slowly and worsen over time unless they are treated. The tumor may be classified as benign or malignant and given a numbered score that reflects its rate of malignancy. This score can help doctors determine how to treat the tumor and predict the likely outcome, or prognosis, for the individual. | ||
| NINDS Disorder List | Prion Diseases | Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope. Creutzfeldt-Jakob disease (CJD) is the most well-known of the human TSEs. It is a rare type of dementia that affects about one in every one million people each year. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS). Kuru was identified in people of an isolated tribe in Papua New Guinea and has now almost disappeared. FFI and GSS are extremely rare hereditary diseases, found in just a few families around the world. A new type of CJD, called variant CJD (vCJD), was first described in 1996 and has been found in Great Britain and several other European countries. The initial symptoms of vCJD are different from those of classic CJD and the disorder typically occurs in younger patients. Research suggests that vCJD may have resulted from human consumption of beef from cattle with a TSE disease called bovine spongiform encephalopathy (BSE), also known as "mad cow disease." Other TSEs found in animals include scrapie, which affects sheep and goats; chronic wasting disease, which affects elk and deer; and transmissible mink encephalopathy. In a few rare cases, TSEs have occurred in other mammals such as zoo animals. These cases are probably caused by contaminated feed. CJD and other TSEs also can be transmitted experimentally to mice and other animals in the laboratory. Research suggests that TSEs are caused by an abnormal version of a protein called a prion (prion is short forproteinaceous infectious particle). Prion proteins occur in both a normal form, which is a harmless protein found in the body's cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein are nearly identical, but the infectious form takes on a different folded shape from the normal protein. Human TSEs can occur three ways: sporadically; as hereditary diseases; or through transmission from infected individuals. Sporadic TSEs may develop because some of a person's normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Inherited cases arise from a change, or mutation, in the prion protein gene that causes the prions to be shaped in an abnormal way. This genetic change may be transmitted to an individual's offspring. Transmission of TSEs from infected individuals is relatively rare. TSEs cannot be transmitted through the air or through touching or most other forms of casual contact. However, they may be transmitted through contact with infected tissue, body fluids, or contaminated medical instruments. Normal sterilization procedures such as boiling or irradiating materials do not prevent transmission of TSEs. Symptoms of TSEs vary, but they commonly include personality changes, psychiatric problems such as depression, lack of coordination, and/or an unsteady gait. Patients also may experience involuntary jerking movements called myoclonus, unusual sensations, insomnia, confusion, or memory problems. In the later stages of the disease, patients have severe mental impairment and lose the ability to move or speak. | TSEs tend to progress rapidly and usually culminate in death over the course of a few months to a few years. | There is currently no treatment that can halt progression of any of the TSEs. Treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. A clinical trial of a potential therapy for CJD is expected to begin soon at the University of California at San Francisco. | ||
| NINDS Disorder List | Encephalopathy | Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure. Encephalopathy may be caused by infectious agent (bacteria, virus, or prion), metabolic or mitochondrial dysfunction, brain tumor or increased pressure in the skull, prolonged exposure to toxic elements (including solvents, drugs, radiation, paints, industrial chemicals, and certain metals), chronic progressive trauma, poor nutrition, or lack of oxygen or blood flow to the brain. The hallmark of encephalopathy is an altered mental state. Depending on the type and severity of encephalopathy, common neurological symptoms are progressive loss of memory and cognitive ability, subtle personality changes, inability to concentrate, lethargy, and progressive loss of consciousness. Other neurological symptoms may include myoclonus (involuntary twitching of a muscle or group of muscles), nystagmus (rapid, involuntary eye movement), tremor, muscle atrophy and weakness, dementia, seizures, and loss of ability to swallow or speak. Blood tests, spinal fluid examination, imaging studies, electroencephalograms, and similar diagnostic studies may be used to differentiate the various causes of encephalopathy. | Treatment is symptomatic and varies, according to the type and severity of the encephalopathy. Your physician can provide specific instructions for proper care and treatment. Anticonvulsants may be prescribed to reduce or halt any seizures. Changes to diet and nutritional supplements may help some patients. In severe cases, dialysis or organ replacement surgery may be needed. | Treating the underlying cause of the disorder may improve symptoms. However, the encephalopathy may cause permanent structural changes and irreversible damage to the brain. Some encephalopathies can be fatal. | ||
| NINDS Disorder List | Syringomyelia | Syringomyelia (sear-IN-go-my-EEL-ya) is a disorder in which a fluid-filled cyst forms within the spinal cord. Over time, this cyst, called a syrinx, expands and elongates, which can damage nerve and the spinal cord. Since the spinal cord connects the brain to nerves in the extremities, this damage may cause pain, weakness, and stiffness in the back, shoulders, arms, or legs. Some people with a syrinx have no symptoms. Symptoms vary among individuals but may include: pain progressive weakness in the arms and legs headache numbness or tingling loss of sensitivity to pain or to hot and cold, especially in the hands stiffness in the back, shoulders, neck, arms, or legs problems with balance, as well as with bladder and bowel control. Signs of the disorder tend to develop slowly. In most cases, the disorder is related to a congenital abnormality of the brain called a Chiari malformation, which causes brain tissue to protrude from its normal location in the back of the head and into the cervical or neck portion of the spinal canal. Syringomyelia may also occur as a complication of trauma, inflammation, spinal cord injury, hemorrhage, spinal cord tumors, or other conditions. Symptoms may appear months or even years after the initial injury, starting with pain, weakness, and sensory impairment originating at the site of trauma. Some cases of syringomyelia are seen in families, although this is rare. | If there are no symptoms, syringomyelia is usually not treated and the person is monitored by a neurologist or neurosurgeon. Monitoring is also done in individuals of advanced age or in cases where there is no progression of symptoms. Surgery is usually recommended for individuals with symptomatic or progressive syringomyelia, with the type of surgery and its location dependent on the type of syrinx. Surgery is done to: provide more space at the bse of the skull and upper neck if there is a Chiari malformation prevent a syrinx from forming or expanding after an injury remove any obstruction that is blocking the flow of the crebrospinal fluid that bathes and protects the brain drain the syrinx, which can be accomplished using a catheter, drainage tubes, and valves. Syringomyelia can recur after surgery, making additional operations necessary. Whether treated or not, many individuals with syringomyelia are told to avoid activities that involve straining. | Symptoms usually begin in young adulthood, with symptoms of one form usually beginning between the ages of 25 and 40 years. If not treated surgically (when needed), syringomyelia often leads to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain. Symptoms may worsen with straining or any activity that causes cerebrospinal fluid pressure to fluctuate. Some individuals may have long periods of stability. Surgery results in stabilization or modest improvement in symptoms for most individuals. Delay in treatment may result in irreversible spinal cord injury. | ||
| NINDS Disorder List | Werdnig-Hoffman Disease | Spinal Muscular Atrophy refers to a group of hereditary diseases that damages and kills specialized nerve cells in the brain and spinal cord (called motor neurons). Motor neurons control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity including speaking, walking, swallowing, and breathing. The most common form of SMA is caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. This form of SMA has four types: Type l, also called Werdnig-Hoffman disease or infantile-onset SMA, is usually evident before 6 months of age. The most severely affected children will have reduced movement and chronic shortening of muscles or tendons (called contractures). Other children may have symptoms including reduced muscle tone, lack of tendon reflexes, twitching, skeletal abnormalities, and problems swallowing and feeding. Without treatment, many affected children die before age 2 years. SMA Type ll is usually first noticed between 6 and 18 months of age. Children can sit without support but are unable to stand or walk unaided. Children also may have respiratory difficulties. Life expectancy is reduced but most individuals live into adolescence or young adulthood. SMA Type lll (Kugelberg-Welander disease) is seen after age 18 months. Children can walk independently but may have difficulty walking or running, rising from a chair, or climbing stairs. Other complications may include curvature of the spine, contractures, and respiratory infections. With treatment, most individuals can have a normal lfespan. Individuals with SMA Type IV develop symptoms after age 21 years, with mild to moderate leg muscle weakness and other symptoms. | There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications. The U.S. Food and Drug Administration has approved the drug nusinersen (Spinraza ™) to treat children and adults with spinal muscular atrophy. The drug is designed to increase production of the full-length SMN protein, which is critical for the maintenance of motor neurons. In May 2019, the FDA approved onasemnogene abeparovec-xioi (Zolgensma ™) gene therapy for children less than 2 years old who have infantile-onset SMA. A safe virus delivers a fully functional human SMN gene to the targeted motor neurons, which in turn improves muscle movement and function, and also improves survival. In August 2020, the FDA approved the orally-administered drug risdiplam (Evrysdi) to treat patients age two months of age and older with SMA. Physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy. Stretching and strengthening exercises may help reduce spasticity, increase range of motion, and keeps circulation flowing. Some individuals require additional therapy for speech, chewing, and swallowing difficulties. Applying heat may relieve muscle pain. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs may help some people retain independence. Proper nutrition and a balanced diet are essential to maintaining weight and strength Non-invasive ventilation at night can prevent apnea in sleep, and some individuals may also require assisted ventilation due to muscle weakness in the neck, throat, and chest during daytime. | The prognosis varies on the form and type of SMA. Some forms are fatal without treatment. People may appear to be stable for long periods, but improvement should not be expected without treatment. Some children with SMA die in infancy while others can live into adolescence or young adulthood. The prognosis is poor for babies with SMA Type I; most die within the first two years. For children with SMA Type II, the prognosis for life expectancy or for independent standing or walking roughly correlates with how old they are when they first begin to experience symptoms - older children tend to have less severe symptoms. Life expectancy is reduced but some individuals live into adolescence or young adulthood. With care, some affected individuals may have a normal lifespan. | ||
| NINDS Disorder List | Spinal Muscular Atrophy | Spinal Muscular Atrophy refers to a group of hereditary diseases that damages and kills specialized nerve cells in the brain and spinal cord (called motor neurons). Motor neurons control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity including speaking, walking, swallowing, and breathing. The most common form of SMA is caused by an abnormal or missing gene known as the survival motor neuron gene 1 (SMN1), which is responsible for the production of a protein essential to motor neurons. This form of SMA has four types: Type l, also called Werdnig-Hoffman disease or infantile-onset SMA, is usually evident before 6 months of age. The most severely affected children will have reduced movement and chronic shortening of muscles or tendons (called contractures). Other children may have symptoms including reduced muscle tone, lack of tendon reflexes, twitching, skeletal abnormalities, and problems swallowing and feeding. Without treatment, many affected children die before age 2 years. SMA Type ll is usually first noticed between 6 and 18 months of age. Children can sit without support but are unable to stand or walk unaided. Children also may have respiratory difficulties. Life expectancy is reduced but most individuals live into adolescence or young adulthood. SMA Type lll (Kugelberg-Welander disease) is seen after age 18 months. Children can walk independently but may have difficulty walking or running, rising from a chair, or climbing stairs. Other complications may include curvature of the spine, contractures, and respiratory infections. With treatment, most individuals can have a normal lfespan. Individuals with SMA Type IV develop symptoms after age 21 years, with mild to moderate leg muscle weakness and other symptoms. | There is no cure for SMA. Treatment consists of managing the symptoms and preventing complications. The U.S. Food and Drug Administration has approved the drug nusinersen (Spinraza ™) to treat children and adults with spinal muscular atrophy. The drug is designed to increase production of the full-length SMN protein, which is critical for the maintenance of motor neurons. In May 2019, the FDA approved onasemnogene abeparovec-xioi (Zolgensma ™) gene therapy for children less than 2 years old who have infantile-onset SMA. A safe virus delivers a fully functional human SMN gene to the targeted motor neurons, which in turn improves muscle movement and function, and also improves survival. In August 2020, the FDA approved the orally-administered drug risdiplam (Evrysdi) to treat patients age two months of age and older with SMA. Physical therapy, occupational therapy, and rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy. Stretching and strengthening exercises may help reduce spasticity, increase range of motion, and keeps circulation flowing. Some individuals require additional therapy for speech, chewing, and swallowing difficulties. Applying heat may relieve muscle pain. Assistive devices such as supports or braces, orthotics, speech synthesizers, and wheelchairs may help some people retain independence. Proper nutrition and a balanced diet are essential to maintaining weight and strength Non-invasive ventilation at night can prevent apnea in sleep, and some individuals may also require assisted ventilation due to muscle weakness in the neck, throat, and chest during daytime. | The prognosis varies on the form and type of SMA. Some forms are fatal without treatment. People may appear to be stable for long periods, but improvement should not be expected without treatment. Some children with SMA die in infancy while others can live into adolescence or young adulthood. The prognosis is poor for babies with SMA Type I; most die within the first two years. For children with SMA Type II, the prognosis for life expectancy or for independent standing or walking roughly correlates with how old they are when they first begin to experience symptoms - older children tend to have less severe symptoms. Life expectancy is reduced but some individuals live into adolescence or young adulthood. With care, some affected individuals may have a normal lifespan. |
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