Autoimmune Neurological Disease

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There are various medical and surgical treatments. Bernhardt-Roth Syndrome - is a disorder characterized by tingling, numbness, and burning pain in the outer side of the thigh. The disorder is caused by compression of the lateral femoral cutaneous nerve as it exits the pelvis. It more commonly occurs in men than women, and is generally found in middle-aged or overweight individuals.

People with the disorder frequently report that it appears or worsens after walking or standing. The skin is often sensitive to touch. Meralgia paresthetica is associated with clothing that is too tight, pregnancy, diabetes, and obesity. Binswanger's Disease - or Subcortical Leukoencephalopathy is a rare form of multi-infarct dementia caused by damage to deep white brain matter.

It is characterized by loss of memory and intellectual function and by changes in mood. Blepharospasm - eye twitching is any abnormal tic or twitch of the eyelid. However, it is normally distinguished from less serious disorders and refers to Benign Essential Blepharospasm, a focal dystonia a neurological movement disorder involving involuntary and sustained muscle contractions of the muscles around the eyes. The cause is often undetermined, but fatigue or an irritant are possible contributing factors.

Bloch-Sulzberger Syndrome - Incontinentia pigmenti IP is one of a group of gene-linked diseases known as neurocutaneous disorders. These disorders cause characteristic patterns of discolored skin and also involve the brain, eyes, nails, and hair. Males are more severely affected than females. Brachial Plexus Injuries - The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Erb-Duchenne Erb's palsy refers to paralysis of the upper brachial plexus.

Dejerine-Klumpke Klumpke's palsy refers to paralysis of the lower brachial plexus. Symptoms of brachial plexus injury may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist, and lack of feeling or sensation in the arm or hand. Bradbury-Eggleston Syndrome - Orthostatic hypotension is a sudden fall in blood pressure that occurs when a person assumes a standing position.

It may be caused by hypovolemia a decreased amount of blood in the body , resulting from the excessive use of diuretics, vasodilators, or other types of drugs, dehydration, or prolonged bed rest. The disorder may be associated with Addison's disease, atherosclerosis build-up of fatty deposits in the arteries , diabetes, and certain neurological disorders. Brain and Spinal Tumors - are abnormal growths of tissue found inside the skull or the bony spinal column, which 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. Tumors that originate in the brain or spinal cord are called primary tumors. Brain Aneurysm - A cerebral aneurysm or brain aneurysm is a cerebrovascular disorder in which weakness in the wall of a cerebral artery or vein causes a localized dilation or ballooning of the blood vessel. Brain Injury - TBI , traumatic injuries to the brain, also called intracranial injury, or simply head injury, occurs when a sudden trauma causes brain damage.

TBI can result from a closed head injury or a penetrating head injury and is one of two subsets of acquired brain injury ABI. The other subset is non-traumatic brain injury e. Parts of the brain that can be damaged include the cerebral hemispheres, cerebellum, and brain stem.

TBI can cause a host of physical, cognitive, emotional, and social effects. Brown-Sequard Syndrome - is an incomplete spinal cord lesion characterized by a clinical picture reflecting hemisection of the spinal cord, often in the cervical cord region. It is a rare syndrome, consisting of ipsilateral hemiplegia with contralateral pain and temperature sensation deficits because of the crossing of the fibers of the spinothalamic tract. Bulbospinal Muscular Atrophy - or Kennedy's disease is an inherited motor neuron disease that affects males.

It is one of a group of disorders called spinal muscular atrophy SMA.


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Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations fleeting muscle twitches visible under the skin. Cadasil - Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy is an inherited form of cerebrovascular disease that occurs when the thickening of blood vessel walls blocks the flow of blood to the brain.

The disease primarily affects small blood vessels in the white matter of the brain. A mutation in the Notch3 gene alters the muscular walls in these small arteries. Other symptoms include white matter lesions throughout the brain, cognitive deterioration, seizures, vision problems, and psychiatric problems such as severe depression and changes in behavior and personality.


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  4. Individuals may also be at higher risk of heart attack. Canavan Disease - one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.

    Canavan disease is one of a group of genetic disorders known as the leukodystrophies. These diseases cause imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers in the brain. Myelin, which lends its color to the "white matter" of the brain, is a complex substance made up of at least ten different chemicals.

    Each of the leukodystrophies affects one and only one of these substances. Canavan disease is caused by mutations in the gene for an enzyme called aspartoacylase. Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone floppiness or stiffness , and an abnormally large, poorly controlled head.

    Carpal Tunnel Syndrome - occurs when the median nerve, which runs from the forearm into the hand, becomes pressed or squeezed at the wrist. The median nerve controls sensations to the palm side of the thumb and fingers although not the little finger , as well as impulses to some small muscles in the hand that allow the fingers and thumb to move.

    The carpal tunnel - a narrow, rigid passageway of ligament and bones at the base of the hand houses the median nerve and tendons. Sometimes, thickening from irritated tendons or other swelling narrows the tunnel and causes the median nerve to be compressed. The result may be pain, weakness, or numbness in the hand and wrist, radiating up the arm. The key symptom of CRPS is continuous, intense pain out of proportion to the severity of the injury, which gets worse rather than better over time. CRPS most often affects one of the arms, legs, hands, or feet. Often the pain spreads to include the entire arm or leg.

    Typical features include dramatic changes in the color and temperature of the skin over the affected limb or body part, accompanied by intense burning pain, skin sensitivity, sweating, and swelling. Cavernomas - A cerebral cavernous malformation CCM is a collection of small blood vessels capillaries in the central nervous system CNS that is enlarged and irregular in structure and takes the shape of a characteristic honeycomb-like pattern. In CCM, the walls of the capillaries are thinner than normal, less elastic, and prone to leaking.

    Cavernous malformations can occur anywhere in the body, but usually only produce symptoms when they are found in the brain and spinal cord. Some people with CCM - experts estimate 25 percent - will never experience any related medical problems. Cavernous Angioma - also known as cerebral cavernous malformation CCM , cavernous haemangioma, and cavernoma, is a vascular disorder of the central nervous system that may appear either sporadically or exhibit autosomal dominant inheritance.

    Central Cord Syndrome - is a form of incomplete spinal cord injury characterized by impairment in the arms and hands and to a lesser extent in the legs. The brain's ability to send and receive signals to and from parts of the body below the site of injury is reduced but not entirely blocked. This syndrome is associated with damage to the large nerve fibers that carry information directly from the cerebral cortex to the spinal cord. These nerves are particularly important for hand and arm function.

    Symptoms may include paralysis or loss of fine control of movements in the arms and hands, with relatively less impairment of leg movements. Sensory loss below the site of the injury and loss of bladder control may also occur. 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. Central Pontine Myelinolysis - CPM is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency hyponatremia.

    The rapid rise in sodium concentration is accompanied by the movement of small molecules and pulls water from brain cells. Through a mechanism that is only partly understood, the shift in water and brain molecules leads to the destruction of myelin, a substance that surrounds and protects nerve fibers. Nerve cells neurons can also be damaged. Certain areas of the brain are particularly susceptible to myelinolysis, especially the part of the brainstem called the pons.

    Some individuals will also have damage in other areas of the brain, which is called extrapontine myelinolysis EPM. Cephalic Disorders - are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic is a term that means "head" or "head end of the body. Although there are many congenital developmental disorders, this fact sheet briefly describes only cephalic conditions. Cephalic disorders are not necessarily caused by a single factor but may be influenced by hereditary or genetic conditions or by environmental exposures during pregnancy such as medication taken by the mother, maternal infection, or exposure to radiation.

    Some cephalic disorders occur when the cranial sutures the fibrous joints that connect the bones of the skull join prematurely. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the fetal nervous system. Ceramidase Deficiency - Farber's disease describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids oils, fatty acids, and related compounds build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected.

    Symptoms are typically seen in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing. Other symptoms may include arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin and sometimes in the lungs and other parts of the body , chronic shortening of muscles or tendons around joints, and vomiting.

    Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Cerebellar Degeneration - is a disease process in which neurons in the cerebellum - the area of the brain that controls muscle coordination and balance - deteriorate and die. Diseases that cause cerebellar degeneration can also involve areas of the brain that connect the cerebellum to the spinal cord, such as the medulla oblongata, the cerebral cortex, and the brain stem.

    Cerebellar degeneration is most often the result of inherited genetic mutations that alter the normal production of specific proteins that are necessary for the survival of neurons. Cerebellar Hypoplasia - is a neurological condition in which the cerebellum is smaller than usual or not completely developed. Cerebellar hypoplasia is a feature of a number of congenital present at birth malformation syndromes, such as Walker-Warburg syndrome.

    It is also associated with several inherited metabolic disorders, such as Williams syndrome, and some of the neurodegenerative disorders that begin in early childhood, such as ataxia telangiectasia. In an infant or young child, symptoms of a disorder that features cerebellar hypoplasia might include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, mental retardation, and involuntary side to side movements of the eyes.

    In an older child, symptoms might include headache, dizzy spells, clumsiness, and hearing impairment. Cerebral Aneurysm - also known as an intracranial or intracerebral aneurysm is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood. The bulging aneurysm can put pressure on a nerve or surrounding brain tissue.

    It may also leak or rupture, spilling blood into the surrounding tissue called a hemorrhage. Some cerebral aneurysms, particularly those that are very small, do not bleed or cause other problems. Cerebral aneurysms can occur anywhere in the brain, but most are located along a loop of arteries that run between the underside of the brain and the base of the skull. Cerebral Arteriosclerosis - Cerebral arteriosclerosis is the result of thickening and hardening of the walls of the arteries in the brain. Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision.

    Cerebral arteriosclerosis can cause serious health problems.

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    If the walls of an artery are too thick, or a blood clot becomes caught in the narrow passage, blood flow to the brain can become blocked and cause an ischemic stroke. When the thickening and hardening is uneven, arterial walls can develop bulges called aneurysms. If a bulge ruptures, bleeding in the brain can cause a hemorrhagic stroke.

    Both types of stroke can be fatal. 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.

    Cerebral Beriberi - Wernicke's encephalopathy is a degenerative brain disorder caused by the lack of thiamine vitamin B1. It may result from alcohol abuse, dietary deficiencies, prolonged vomiting, eating disorders, or the effects of chemotherapy. Symptoms include mental confusion, vision impairment, stupor, coma, hypothermia, hypotension, and ataxia. Korsakoff's amnesic syndrome-a memory disorder-also results from a deficiency of thiamine, and is associated with alcoholism.

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    The heart, vascular, and nervous system are involved. Symptoms include amnesia, confabulation, attention deficit, disorientation, and vision impairment. The main features of Korsakoff's amnesic syndrome are the impairments in acquiring new information or establishing new memories, and in retrieving previous memories. Cerebral Gigantism - Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first 2 to 3 years of life. The disorder may be accompanied by mild mental retardation, delayed motor, cognitive, and social development, hypotonia low muscle tone , and speech impairments.

    Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads macrocrania than is normal for their age. Symptoms of the disorder, which vary among individuals, include a disproportionately large and long head with a slightly protrusive forehead, large hands and feet, hypertelorism an abnormally increased distance between the eyes , and down-slanting eyes.

    Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Cerebral Hypoxia - refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow. Drowning, strangling, choking, suffocation, cardiac arrest, head trauma, carbon monoxide poisoning, and complications of general anesthesia can create conditions that can lead to cerebral hypoxia.

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    Symptoms of mild cerebral hypoxia include inattentiveness, poor judgment, memory loss, and a decrease in motor coordination. Brain cells are extremely sensitive to oxygen deprivation and can begin to die within five minutes after oxygen supply has been cut off. When hypoxia lasts for longer periods of time, it can cause coma, seizures, and even brain death.

    In brain death, there is no measurable activity in the brain, although cardiovascular function is preserved. Life support is required for respiration. Cerebral Palsy - The term cerebral palsy refers to any one of a number of neurological disorders that appear in infancy or early childhood and permanently affect body movement and muscle coordination but don't worsen over time. Even though cerebral palsy affects muscle movement, it isn't caused by problems in the muscles or nerves.

    It is caused by abnormalities in parts of the brain that control muscle movements. The majority of children with cerebral palsy are born with it, although it may not be detected until months or years later.

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    The early signs of cerebral palsy usually appear before a child reaches 3 years of age. The most common are a lack of muscle coordination when performing voluntary movements ataxia ; stiff or tight muscles and exaggerated reflexes spasticity ; walking with one foot or leg dragging; walking on the toes, a crouched gait, or a "scissored" gait; and muscle tone that is either too stiff or too floppy. 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 mental retardation, which can be moderate or severe. Respiratory infections are frequent. COFS is diagnosed at birth. Charcot-Marie-Tooth Disease - CMT is one of the most common inherited neurological disorders, affecting approximately 1 in 2, people in the United States.

    CMT, also known as hereditary motor and sensory neuropathy HMSN or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies. Chiari Malformation - CMs are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward.

    The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid the liquid that surrounds and protects the brain and spinal cord and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. There are three primary types of CM. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II also called Arnold-Chiari malformation is usually accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back.

    This can cause partial or complete paralysis below the spinal opening. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia, and spinal curvature. Chorea - is an abnormal voluntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by over-activity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next.

    Chorea often occurs with athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions.

    Syndenham's chorea occurs in a small percentage 20 percent of children and adolescents as a complication of rheumatic fever. Chronic Inflammatory Demyelinating Polyneuropathy CIDP - is a neurological disorder characterized by progressive weakness and impaired sensory function in the legs and arms. The disorder, which is sometimes called chronic relapsing polyneuropathy, is caused by damage to the myelin sheath the fatty covering that wraps around and protects nerve fibers of the peripheral nerves. Although it can occur at any age and in both genders, CIDP is more common in young adults, and in men more so than women.

    It often presents with symptoms that include tingling or numbness beginning in the toes and fingers , weakness of the arms and legs, loss of deep tendon reflexes areflexia , fatigue, and abnormal sensations.

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    CIDP is closely related to Guillain-Barre syndrome and it is considered the chronic counterpart of that acute disease. Chronic Pain - While acute pain is a normal sensation triggered in the nervous system to alert you to possible injury and the need to take care of yourself, chronic pain is different. Chronic pain persists. Pain signals keep firing in the nervous system for weeks, months, even years.

    There may have been an initial mishap - sprained back, serious infection, or there may be an ongoing cause of pain - arthritis, cancer, ear infection, but some people suffer chronic pain in the absence of any past injury or evidence of body damage. Many chronic pain conditions affect older adults. Common chronic pain complaints include headache, low back pain, cancer pain, arthritis pain, neurogenic pain pain resulting from damage to the peripheral nerves or to the central nervous system itself , psychogenic pain pain not due to past disease or injury or any visible sign of damage inside or outside the nervous system.

    Coffin Lowry Syndrome - is a rare genetic disorder characterized by craniofacial head and facial and skeletal abnormalities, mental retardation, short stature, and hypotonia. Characteristic facial features may include an underdeveloped upper jaw bone maxillary hypoplasia , a broad nose, protruding nostrils nares , an abnormally prominent brow, down-slanting eyelid folds palpebral fissures , widely spaced eyes hypertelorism , large ears, and unusually thick eyebrows.

    Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine kyphoscoliosis , unusual prominence of the breastbone pectus carinatum , and short, hyper-extensible, tapered fingers. Additional abnormalities may also be present. Other features may include feeding and respiratory problems, developmental delay, mental retardation, hearing impairment, awkward gait, flat feet, and heart and kidney involvement.

    Colpocephaly - is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles cavities of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. Colpocephaly, one of a group of structural brain disorders known as cephalic disorders, is characterized by microcephaly an abnormally small head and mental retardation. Other features may include movement abnormalities, muscle spasms, and seizures.

    Although the cause of colpocephaly is unknown, researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. Colpocephaly may be diagnosed late in pregnancy, although it is often misdiagnosed as hydrocephalus excessive accumulation of cerebrospinal fluid in the brain. Coma and Persistent Vegetative State - A coma is a profound or deep state of unconsciousness.

    An individual in a state of coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. A persistent vegetative state commonly, but incorrectly, referred to as "brain-death" sometimes follows a coma. Individuals in such a state have lost their thinking abilities and awareness of their surroundings, but retain non-cognitive function and normal sleep patterns.

    Even though those in a persistent vegetative state lose their higher brain functions, other key functions such as breathing and circulation remain relatively intact. Spontaneous movements may occur, and the eyes may open in response to external stimuli. Congenital Facial Diplegia - Mobius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. The first symptom, present at birth, is an inability to suck.

    Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems; and speech difficulties. Small or absent brain stem nuclei that control the cranial nerves, as well as decreased numbers of muscle fibers, have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur.

    As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. The prognosis for otherwise normal development is excellent in most cases. Congenital Myasthenia - is an inherited disorder that affects the transmission of signals to the muscles. It results from a variety of genetic defects at the molecules associated with neuromuscular transmission. Congenital myasthenia is not the same as myasthenia gravis, which is an autoimmune disorder. More than a dozen congenital myasthenic syndromes have been classified. Symptoms are usually noticed in early childhood and include drooping eyelids, facial weakness, and limb weakness.

    Parents of children with congenital myasthenia frequently show no symptoms of the disorder. Congenital Myopathy - is a term for any muscle disorder present at birth. By this definition the congenital myopathies could include hundreds of distinct neuromuscular syndromes and disorders. In general, congenital myopathies cause loss of muscle tone and muscle weakness in infancy and delayed motor milestones, such as walking, later in childhood. Three distinct disorders are definitively classified as congenital myopathies: central core disease, nemaline rod myopathy, and centronuclear myotubular myopathy.

    Central core disease is a dominantly inherited genetic disease characterized by mild leg weakness appearing in infancy. This weakness does not progress with age, but leads to delay in walking. Nemaline rod myopathy is a dominantly or recessively inherited, genetic disease characterized by infantile muscle weakness and loss of muscle tone, accompanied by problems in suckling or feeding, delay in walking, and occasionally respiratory problems. Corticobasal Degeneration - is a progressive neurological disorder characterized by nerve cell loss and atrophy shrinkage of multiple areas of the brain including the cerebral cortex and the basal ganglia.

    Corticobasal degeneration progresses gradually. Initial symptoms, which typically begin at or around age 60, may first appear on one side of the body unilateral , but eventually affect both sides as the disease progresses. Symptoms are similar to those found in Parkinson disease, such as poor coordination, akinesia an absence of movements , rigidity a resistance to imposed movement , disequilibrium impaired balance ; and limb dystonia abnormal muscle postures.

    Other symptoms such as cognitive and visual-spatial impairments, apraxia loss of the ability to make familiar, purposeful movements , hesitant and halting speech, myoclonus muscular jerks , and dysphagia difficulty swallowing may also occur. An individual with corticobasal degeneration eventually becomes unable to walk.

    Cranial Arteritis - Vasculitis is an inflammation of the vascular system, which includes the veins, arteries, and capillaries. Dysfunction may occur due to the inflammation itself or over time as the blood vessel walls swell, harden, thicken, and develop scar tissue. This narrows the passage through which blood can flow. As the condition progresses, it can slow or completely stop the normal flow of blood. A vasculitis syndrome may begin suddenly or develop over time.

    Symptoms include headaches, fever, malaise feeling out-of-sorts , rapid weight loss, confusion or forgetfulness, aches and pains in the joints and muscles, pain while chewing or swallowing, paralysis or numbness in the arms or legs, double vision, blurred vision, or blindness.

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    Craniosynostosis - is a birth defect of the brain characterized by the premature closure of one or more of the fibrous joints between the bones of the skull called the cranial sutures before brain growth is complete. Closure of a single suture is most common. The abnormally shaped skull that results is due to the brain not being able to grow in its natural shape because of the closure.

    Instead it compensates with growth in areas of the skull where the cranial sutures have not yet closed. The condition can be gene-linked, or caused by metabolic diseases, such as rickets or an over-active thyroid. Some cases are associated with other disorders such as microcephaly abnormally small head and hydrocephalus excessive accumulation of cerebrospinal fluid in the brain. The first sign of craniosynostosis is an abnormally shaped skull. Other features can include signs of increased intracranial pressure, developmental delays, or mental retardation, which are caused by constriction of the growing brain.

    Seizures and blindness may also occur. It affects about one person in every one million people per year worldwide; in the United States there are about cases per year. CJD usually appears in later life and runs a rapid course. Typically, onset of symptoms occurs about age 60, and about 90 percent of patients die within 1 year. In the early stages of disease, patients may have failing memory, behavioral changes, lack of coordination and visual disturbances.

    As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur. Cumulative Trauma Disorders - Repetitive motion disorders RMDs are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities. RMDs include carpal tunnel syndrome, bursitis, tendonitis, epicondylitis, ganglion cyst, tenosynovitis, and trigger finger. RMDs are caused by too many uninterrupted repetitions of an activity or motion, unnatural or awkward motions such as twisting the arm or wrist, overexertion, incorrect posture, or muscle fatigue.

    RMDs occur most commonly in the hands, wrists, elbows, and shoulders, but can also happen in the neck, back, hips, knees, feet, legs, and ankles. The disorders are characterized by pain, tingling, numbness, visible swelling or redness of the affected area, and the loss of flexibility and strength. For some individuals, there may be no visible sign of injury, although they may find it hard to perform easy tasks Over time, RMDs can cause temporary or permanent damage to the soft tissues in the body - such as the muscles, nerves, tendons, and ligaments - and compression of nerves or tissue.

    Cushing's Syndrome - also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal gland. Exposure to too much cortisol can occur from long-term use of synthetic glucocorticoid hormones to treat inflammatory illnesses. Pituitary adenomas benign tumors of the pituitary gland that secrete increased amounts of ACTH adrenocorticotropic hormone, a substance that controls the release of cortisol can also spur overproduction of cortisol. Specificities of antibodies to acetylcholine receptors in sera from myasthenia gravis patients measured by monoclonal antibodies.

    The main immunogenic region of the acetylcholine receptor: structure and role in myasthenia gravis. Autoimmunity — Clinical, pathological, HLA antigen and immunological evidence for disease heterogeneity in myasthenia gravis. Brain , , — Acetylcholine receptors in human thymic myoid cells in situ: an immunohistological study. Ann Neurol — Acetylcholine receptor antibody synthesis by thymic lymphocytes: correlation with thymic histology.

    Neurology — Heidenreich, F. Vincent, N. Willcox and J. Anti-acetylcholine receptor antibody specificities in serum and in thymic culture supernatants from myasthenia gravis patients. Acetylcholine receptor antibody and clinical response to thymectomy in myasthenia gravis. Antibody to acetylcholine receptor in myasthenia gravis: production by lymphocytes from thymus or thymoma. Neurology 34; — Myasthenic and nonmyasthenic thymoma.

    An expansion of a minor cortical epithelial cell subset? Am J Pathol ; — PubMed Google Scholar. Somnier FE. Exacerbation of myasthenia gravis after removal of thymoma. Acta Neurol Scand ; — J Neuroimmunol , 7: 55— Microenvironment of thymic myoid cells in myasthenia gravis. Virch Archiv B Cell Pathol — Expression of neurofilaments and of a titin epitope in thymic epithelial tumours. Implications for the pathogenesis of myasthenia gravis. Antigen presentation by thymoma epithelial cells from myasthenia gravis patients to potentially pathogenic T cells.

    J Neuroimmunol — Unfortunately, this may lead to misdiagnosis, as symptoms can often mimic many other disorders. In addition, the range of symptoms can vary greatly from child to child, both in types of symptoms and their severity. This information allows us to make an accurate diagnosis and tailor our treatment recommendations. Treatments may include medications that suppress the immune system to decrease inflammation, as well as treatments to reduce seizures, psychiatric symptoms, and sleep disturbances.

    We often use a combination of therapies to achieve the best possible immediate and long-term outcomes for your child. We provide family-friendly services to support you and your entire family. Whether it's explaining a procedure or offering encouragement and emotional support, you and your child get care in a warm, welcoming environment. Our care coordinators and social workers help you navigate the medical system and coordinate the variety of health services your child needs, including appointments for testing, treatment, and other medical care.

    If you're from out-of-town, they can also connect you with services that assist with travel and lodging. Our team includes doctors, clinical coordinators, skilled nurses, psychologists, and social workers. Convenient Care Your child will benefit from seeing multiple specialists involved in her care on the same day. They meet in the same room, at the same time, with you and your child to understand her history and symptoms as well as discuss her evaluation and treatment plan.

    This approach allows for improved communication among team members, patients, and families. Our care coordinator helps your family schedule visits and diagnostic testing. Nationally Recognized Autoimmune Brain Disease Specialists Our pediatric rheumatologist and pediatric neurologist are active with national organizations and help develop guidelines for the diagnosis and treatment of autoimmune encephalitis. Active Research Program We are constantly conducting research to better understand how autoimmune brain diseases develop, in hopes of identifying better ways to diagnose and treat them.

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