Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system.
Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)
Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)
Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue. (Intern Med 1996 Dec;35(12):925-9)
A characteristic symptom complex.
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110)
An intracellular cystatin subtype that is found in a broad variety of cell types. It is a cytosolic enzyme inhibitor that protects the cell against the proteolytic action of lysosomal enzymes such as CATHEPSINS.
An anticonvulsant used for several types of seizures, including myotonic or atonic seizures, photosensitive epilepsy, and absence seizures, although tolerance may develop. It is seldom effective in generalized tonic-clonic or partial seizures. The mechanism of action appears to involve the enhancement of GAMMA-AMINOBUTYRIC ACID receptor responses.
An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)
A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
The electric response evoked in the CEREBRAL CORTEX by stimulation along AFFERENT PATHWAYS from PERIPHERAL NERVES to CEREBRUM.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A subcategory of protein tyrosine phosphatases that occur in the CYTOPLASM. Many of the proteins in this category play a role in intracellular signal transduction.
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
An ergot derivative that acts as an agonist at dopamine D2 receptors (DOPAMINE AGONISTS). It may also act as an antagonist at dopamine D1 receptors, and as an agonist at some serotonin receptors (SEROTONIN RECEPTOR AGONISTS).
Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73)
Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.
Recording of the changes in electric potential of muscle by means of surface or needle electrodes.
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)

Paraneoplastic neurological syndromes. (1/13)

Paraneoplastic neurological syndromes (PNS) can be defined as remote effects of cancer that are not caused by the tumor and its metastasis, or by infection, ischemia or metabolic disruptions. PNS are rare, affecting less than 1/10,000 patients with cancer. Only the Lambert-Eaton myasthenic syndrome is relatively frequent, occurring in about 1% of patients with small cell lung cancer. PNS can affect any part of the central and peripheral nervous system, the neuromuscular junction, and muscle. They can be isolated or occur in association. In most patients, the neurological disorder develops before the cancer becomes clinically overt and the patient is referred to the neurologist who has the charge of identifying a neurological disorder as paraneoplastic. PNS are usually severely disabling. The most common PNS are Lambert-Eaton myasthenic syndrome (LEMS), subacute cerebellar ataxia, limbic encephalitis (LE), opsoclonus-myoclonus (OM), retinopathies (cancer-associated retinopathy (CAR) and melanoma-associated retinopathy (MAR), Stiff-Person syndrome (SPS), chronic gastrointestinal pseudoobstruction (CGP), sensory neuronopathy (SSN), encephalomyelitis (EM) and dermatomyositis. PNS are caused by autoimmune processes triggered by the cancer and directed against antigens common to both the cancer and the nervous system, designated as onconeural antigens. Due to their high specificity (> 90%), the best way to diagnose a neurological disorder as paraneoplastic is to identify one of the well-characterized anti-onconeural protein antibodies in the patient's serum. In addition, as these antibodies are associated with a restricted range of cancers, they can guide the search for the underlying tumor at a stage when it is frequently not clinically overt. This is a critical point as, to date, the best way to stabilize PNS is to treat the cancer as soon as possible. Unfortunately, about one-third of patients do not have detectable antibodies and 5% to 10% have an atypical antibody that is not well-characterized. As PNS are believed to be immune-mediated, suppression of the immune response represents another treatment approach.  (+info)

Paraneoplastic opsoclonus-myoclonus ataxia associated with non-small-cell lung carcinoma. (2/13)

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Neurometabolic effects of ACTH on free amino compounds in opsoclonus-myoclonus syndrome. (3/13)

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Opsoclonus-myoclonus syndrome in anti-N-methyl-D-aspartate receptor encephalitis. (4/13)

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Opsoclonus-myoclonus syndrome in patients with locked-in syndrome: a therapeutic porthole with gabapentin. (5/13)

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An adult case of hand, foot, and mouth disease caused by enterovirus 71 accompanied by opsoclonus myoclonica. (6/13)

We reported a 23-year-old female who was treated for rash due to hand, foot, and mouth disease (HFMD). On day 4 of hospitalization, the patient showed opsoclonus (jerky eye movements in all directions), myoclonus of the neck, trunk, and extremities, and cerebellar ataxia. Based on the changes in serum viral antibody titer, the patient was diagnosed as enterovirus 71 infection. No obvious abnormal findings were noted in head MRI. Immunoglobulin 5 g/day was administered for 3 days in the early stages of infection, and administration of methylprednisolone 500 mg/day for 3 days was repeated twice. Afterwards, oral corticosteroids were given, resulting in neurological improvements a month. Including our case, there are only 2 cases within opsoclonus myoclonica associated with enterovirus 71 infection. Our case suggests, based on the course of treatment, possible involvement of direct viral action or autoimmune response in opsoclonus myoclonica.  (+info)

Protein-RNA and protein-protein recognition by dual KH1/2 domains of the neuronal splicing factor Nova-1. (7/13)

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Outcome and prognostic features in opsoclonus-myoclonus syndrome from infancy to adult life. (8/13)

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Myoclonus is a medical term that describes a quick, involuntary jerking muscle spasm. These spasms can happen once or repeat in a series, and they can range from mild to severe in nature. Myoclonus can affect any muscle in the body and can be caused by several different conditions, including certain neurological disorders, injuries, or diseases. In some cases, myoclonus may occur without an identifiable cause.

There are various types of myoclonus, classified based on their underlying causes, patterns of occurrence, and associated symptoms. Some common forms include:

1. Action myoclonus: Occurs during voluntary muscle movements
2. Stimulus-sensitive myoclonus: Triggered by external or internal stimuli, such as touch, sound, or light
3. Physiological myoclonus: Normal muscle jerks that occur during sleep onset (hypnic jerks) or during sleep (nocturnal myoclonus)
4. Reflex myoclonus: Result of a reflex arc activation due to a peripheral nerve stimulation
5. Epileptic myoclonus: Part of an epilepsy syndrome, often involving the brainstem or cortex
6. Symptomatic myoclonus: Occurs as a result of an underlying medical condition, such as metabolic disorders, infections, or neurodegenerative diseases

Treatment for myoclonus depends on the specific type and underlying cause. Medications, physical therapy, or lifestyle modifications may be recommended to help manage symptoms and improve quality of life.

Opsoclonus-Myoclonus Syndrome (OMS) is a rare neurological disorder characterized by rapid, involuntary, and chaotic eye movements (opsoclonus) and brief, shock-like jerks of the muscles (myoclonus). These symptoms can affect various parts of the body, including the limbs, trunk, and face. OMS is often associated with a variety of underlying causes, such as viral infections, tumors, or autoimmune disorders. In some cases, no specific cause can be identified, and this is referred to as idiopathic OMS.

The symptoms of OMS can significantly impact an individual's daily functioning and quality of life. Treatment typically involves a combination of medications to manage the symptoms and address any underlying causes. The prognosis for individuals with OMS varies depending on the severity of the condition and the effectiveness of treatment. Some people may experience significant improvement in their symptoms, while others may have persistent neurological impairments.

Ocular motility disorders refer to a group of conditions that affect the movement of the eyes. These disorders can result from nerve damage, muscle dysfunction, or brain injuries. They can cause abnormal eye alignment, limited range of motion, and difficulty coordinating eye movements. Common symptoms include double vision, blurry vision, strabismus (crossed eyes), nystagmus (involuntary eye movement), and difficulty tracking moving objects. Ocular motility disorders can be congenital or acquired and may require medical intervention to correct or manage the condition.

Nocturnal Myoclonus Syndrome, also known as Periodic Limb Movement Disorder (PLMD), is a condition characterized by recurring involuntary jerking movements of the limbs during sleep, particularly the legs. These movements typically occur every 20-40 seconds and can last for an hour or more throughout the night. They often disrupt normal sleep patterns, causing insomnia or excessive daytime sleepiness.

The movements are usually jerky, rapid, and rhythmic, involving extension of the big toe and flexion of the ankle, knee, or hip. In some cases, these movements can be so forceful that they cause the person to wake up, although often individuals with this condition may not be aware of their nighttime leg movements.

Nocturnal Myoclonus Syndrome is different from another common sleep disorder called Restless Legs Syndrome (RLS), as RLS primarily causes discomfort or an irresistible urge to move the legs while awake and still, whereas Nocturnal Myoclonus Syndrome involves involuntary movements during sleep. However, up to 80% of people with RLS also have PLMD.

The exact cause of Nocturnal Myoclonus Syndrome is not fully understood, but it may be associated with abnormalities in the brain's regulation of muscle activity during sleep. Certain medications, neurological conditions, and iron deficiency anemia have been linked to an increased risk of developing this disorder. Treatment options include medication, lifestyle changes, and addressing any underlying medical conditions that may contribute to the development or worsening of symptoms.

Paraneoplastic syndromes of the nervous system are a group of rare disorders that occur in some individuals with cancer. These syndromes are caused by an immune system response to the cancer tumor, which can lead to the damage or destruction of nerve cells. The immune system produces antibodies and/or activated immune cells that attack the neural tissue, leading to neurological symptoms.

Paraneoplastic syndromes can affect any part of the nervous system, including the brain, spinal cord, peripheral nerves, and muscles. Symptoms vary depending on the specific syndrome and the location of the affected nerve tissue. Some common neurological symptoms include muscle weakness, numbness or tingling, seizures, memory loss, confusion, difficulty speaking or swallowing, visual disturbances, and coordination problems.

Paraneoplastic syndromes are often associated with specific types of cancer, such as small cell lung cancer, breast cancer, ovarian cancer, and lymphoma. Diagnosis can be challenging because the symptoms may precede the discovery of the underlying cancer. A combination of clinical evaluation, imaging studies, laboratory tests, and sometimes a brain biopsy may be necessary to confirm the diagnosis.

Treatment typically involves addressing the underlying cancer with surgery, chemotherapy, or radiation therapy. Immunosuppressive therapies may also be used to manage the immune response that is causing the neurological symptoms. While treatment can help alleviate symptoms and improve quality of life, paraneoplastic syndromes are often difficult to cure completely.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Myoclonic epilepsies are a group of epilepsy syndromes characterized by the presence of myoclonic seizures. A myoclonic seizure is a type of seizure that involves quick, involuntary muscle jerks or twitches. These seizures can affect one part of the body or multiple parts simultaneously and may vary in frequency and severity.

Myoclonic epilepsies can occur at any age but are more common in infancy, childhood, or adolescence. Some myoclonic epilepsy syndromes have a genetic basis, while others may be associated with brain injury, infection, or other medical conditions.

Some examples of myoclonic epilepsy syndromes include:

1. Juvenile Myoclonic Epilepsy (JME): This is the most common type of myoclonic epilepsy and typically begins in adolescence. It is characterized by myoclonic jerks, often occurring upon awakening or after a period of relaxation, as well as generalized tonic-clonic seizures.
2. Progressive Myoclonic Epilepsies (PME): These are rare inherited disorders that typically begin in childhood or adolescence and involve both myoclonic seizures and other types of seizures. PMEs often progress to include cognitive decline, movement disorders, and other neurological symptoms.
3. Lennox-Gastaut Syndrome (LGS): This is a severe form of epilepsy that typically begins in early childhood and involves multiple types of seizures, including myoclonic seizures. LGS can be difficult to treat and often results in cognitive impairment and developmental delays.
4. Myoclonic Astatic Epilepsy (MAE): Also known as Doose syndrome, MAE is a childhood epilepsy syndrome characterized by myoclonic seizures, atonic seizures (brief periods of muscle weakness or loss of tone), and other types of seizures. It often responds well to treatment with antiepileptic drugs.

The management of myoclonic epilepsies typically involves a combination of medication, lifestyle changes, and, in some cases, dietary modifications. The specific treatment plan will depend on the type of myoclonic epilepsy and its underlying cause.

Progressive Myoclonic Epilepsies (PME) is a group of rare, genetic disorders characterized by myoclonus (rapid, involuntary muscle jerks), tonic-clonic seizures (also known as grand mal seizures), and progressive neurological deterioration. The term "progressive" refers to the worsening of symptoms over time.

The myoclonic epilepsies are classified as progressive due to the underlying neurodegenerative process that affects the brain, leading to a decline in cognitive abilities, motor skills, and overall functioning. These disorders usually begin in childhood or adolescence and tend to worsen with age.

Examples of PMEs include:

1. Lafora disease: A genetic disorder caused by mutations in the EPM2A or NHLRC1 genes, leading to the accumulation of abnormal protein aggregates called Lafora bodies in neurons. Symptoms typically start between ages 6 and 16 and include myoclonus, seizures, and progressive neurological decline.
2. Unverricht-Lundborg disease: Also known as Baltic myoclonus, this is an autosomal recessive disorder caused by mutations in the CSTB gene. It is characterized by progressive myoclonic epilepsy, ataxia (loss of coordination), and cognitive decline. Symptoms usually begin between ages 6 and 18.
3. Neuronal Ceroid Lipofuscinoses (NCLs): A group of inherited neurodegenerative disorders characterized by the accumulation of lipopigments in neurons. Several types of NCLs can present with progressive myoclonic epilepsy, including CLN2 (late-infantile NCL), CLN3 (juvenile NCL), and CLN6 (early juvenile NCL).
4. Myoclonus Epilepsy Associated with Ragged Red Fibers (MERRF): A mitochondrial disorder caused by mutations in the MT-TK gene, leading to myoclonic epilepsy, ataxia, and ragged red fibers on muscle biopsy.
5. Dentatorubral-Pallidoluysian Atrophy (DRPLA): An autosomal dominant disorder caused by mutations in the ATN1 gene, characterized by myoclonic epilepsy, ataxia, chorea (involuntary movements), and dementia.

These are just a few examples of disorders that can present with progressive myoclonic epilepsy. It is essential to consult a neurologist or epileptologist for proper diagnosis and management.

Lafora Disease is a rare, inherited, progressive myoclonus epilepsy (PME) disorder. It is characterized by the accumulation of abnormal glycogen particles called Lafora Bodies in nerve cells (neurons) throughout the body, most prominently in the brain and muscle tissue.

The disease typically begins in late childhood or early adolescence with symptoms such as:
- Seizures (myoclonic jerks, tonic-clonic seizures, absence seizures)
- Visual hallucinations
- Dementia
- Speech difficulties
- Muscle stiffness and rigidity
- Difficulty walking and coordinating movements

Lafora Disease is caused by mutations in either the EPM2A or NHLRC1 gene, which play a role in regulating glycogen metabolism. The disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

There is currently no cure for Lafora Disease and treatment is focused on managing symptoms with anti-epileptic drugs and supportive care. The prognosis for individuals with Lafora Disease is poor, with most individuals not surviving beyond their mid-20s.

Unverricht-Lundborg syndrome, also known as Progressive Myoclonus Epilepsy type 1 or PME1, is a rare inherited neurological disorder characterized by progressive myoclonus (involuntary jerking movements), tonic-clonic seizures (grand mal seizures), and sometimes cognitive decline. It typically begins in childhood or adolescence. The condition is caused by mutations in the CSTB gene, which provides instructions for making a protein called cystatin B that helps regulate the activity of enzymes involved in brain function. The exact role of cystatin B in the brain and how its deficiency leads to Unverricht-Lundborg syndrome is not fully understood.

Cystatin B is a type of protease inhibitor that belongs to the cystatin superfamily. It is primarily produced in the central nervous system and is found in various body fluids, including cerebrospinal fluid and urine. Cystatin B plays a crucial role in regulating protein catabolism by inhibiting lysosomal cysteine proteases, which are enzymes that break down proteins.

Defects or mutations in the gene that encodes for cystatin B have been associated with a rare inherited neurodegenerative disorder known as Uner Tan Syndrome (UTS). UTS is characterized by language impairment, mental retardation, and distinctive facial features. The exact mechanism by which cystatin B deficiency leads to this disorder is not fully understood, but it is thought to involve the dysregulation of protein catabolism in neurons, leading to neurotoxicity and neurodegeneration.

Clonazepam is a medication that belongs to a class of drugs called benzodiazepines. It is primarily used to treat seizure disorders, panic attacks, and anxiety. Clonazepam works by increasing the activity of gamma-aminobutyric acid (GABA), a neurotransmitter in the brain that has a calming effect on the nervous system.

The medication comes in tablet or orally disintegrating tablet form and is typically taken two to three times per day. Common side effects of clonazepam include dizziness, drowsiness, and coordination problems. It can also cause memory problems, mental confusion, and depression.

Like all benzodiazepines, clonazepam has the potential for abuse and addiction, so it should be used with caution and only under the supervision of a healthcare provider. It is important to follow the dosage instructions carefully and not to stop taking the medication suddenly, as this can lead to withdrawal symptoms.

It's important to note that while I strive to provide accurate information, this definition is intended to be a general overview and should not replace professional medical advice. Always consult with a healthcare provider for medical advice.

An abnormal reflex in a medical context refers to an involuntary and exaggerated response or lack of response to a stimulus that is not expected in the normal physiological range. These responses can be indicative of underlying neurological disorders or damage to the nervous system. Examples include hyperreflexia (overactive reflexes) and hyporeflexia (underactive reflexes). The assessment of reflexes is an important part of a physical examination, as it can provide valuable information about the functioning of the nervous system.

Myoclonic Epilepsy with Ragged Red Fibers (MERRF) is a rare mitochondrial disorder, which is a group of genetic disorders that affect the energy production within cells. It is characterized by multiple symptoms including myoclonus (jerky, involuntary muscle spasms), epilepsy (recurrent seizures), ataxia (lack of coordination and balance), dementia, and weakness. The name "MERRF" comes from the characteristic finding of "ragged red fibers" in muscle biopsies when viewed under a microscope using special stains. These fibers are abnormal muscle cells containing clusters of abnormal mitochondria. MERRF is caused by mutations in the mitochondrial DNA, most commonly the A8344G point mutation in the MT-TK gene. It is typically inherited from the mother and can affect multiple organs throughout the body.

Myoclonic cerebellar dyssynergia is not a widely recognized or formally defined medical term. However, based on its individual components, it can be inferred to refer to a neurological condition characterized by:

1. Myoclonus: These are sudden, involuntary jerking movements of a muscle or group of muscles. They typically occur as a result of hyperexcitability of the neurons in the brain that control movement (motor neurons).
2. Cerebellar: The cerebellum is a part of the brain responsible for coordinating muscle movements, maintaining posture and balance, and fine-tuning motor skills. When a condition is described as "cerebellar," it implies that there is some dysfunction or abnormality in this region of the brain.
3. Dyssynergia: This term refers to a lack of coordination between muscles and muscle groups during voluntary movements. It can result from damage to the cerebellum or other parts of the nervous system involved in motor control.

Therefore, myoclonic cerebellar dyssynergia could be interpreted as a condition characterized by involuntary muscle jerks (myoclonus) and impaired coordination of voluntary movements (dyssynergia), likely due to cerebellar dysfunction. However, it is essential to consult with a medical professional for an accurate diagnosis and treatment plan if you or someone else experiences symptoms that may align with this description.

Somatosensory evoked potentials (SEPs) are electrical signals generated in the brain and spinal cord in response to the stimulation of peripheral nerves. These responses are recorded and measured to assess the functioning of the somatosensory system, which is responsible for processing sensations such as touch, temperature, vibration, and proprioception (the sense of the position and movement of body parts).

SEPs are typically elicited by applying electrical stimuli to peripheral nerves in the arms or legs. The resulting neural responses are then recorded using electrodes placed on the scalp or other locations on the body. These recordings can provide valuable information about the integrity and function of the nervous system, and are often used in clinical settings to diagnose and monitor conditions such as nerve damage, spinal cord injury, multiple sclerosis, and other neurological disorders.

SEPs can be further categorized based on the specific type of stimulus used and the location of the recording electrodes. For example, short-latency SEPs (SLSEPs) are those that occur within the first 50 milliseconds after stimulation, and are typically recorded from the scalp over the primary sensory cortex. These responses reflect the earliest stages of sensory processing and can be used to assess the integrity of the peripheral nerves and the ascending sensory pathways in the spinal cord.

In contrast, long-latency SEPs (LLSEPs) occur after 50 milliseconds and are typically recorded from more posterior regions of the scalp over the parietal cortex. These responses reflect later stages of sensory processing and can be used to assess higher-level cognitive functions such as attention, memory, and perception.

Overall, SEPs provide a valuable tool for clinicians and researchers seeking to understand the functioning of the somatosensory system and diagnose or monitor neurological disorders.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Protein Tyrosine Phosphatases, Non-Receptor (PTPNs) are a type of enzymes that play a crucial role in the regulation of various cellular processes by removing phosphate groups from tyrosine residues of proteins. Unlike receptor protein tyrosine phosphatases, PTPNs do not have a transmembrane domain and are located in the cytoplasm. They are involved in several signaling pathways that control cell growth, differentiation, migration, and survival. Dysregulation of PTPN function has been implicated in various diseases, including cancer, diabetes, and neurological disorders.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

Lisuride is a type of medication called a dopamine agonist, which works by stimulating dopamine receptors in the brain. It is primarily used to treat Parkinson's disease and related disorders, as it can help to alleviate symptoms such as stiffness, tremors, spasms, and poor muscle control.

Lisuride may also be used off-label for other conditions, such as certain types of headaches or cluster headaches. It is available in the form of tablets and is typically taken several times a day, with dosages adjusted based on individual patient needs and responses to treatment.

As with any medication, lisuride can have side effects, including nausea, dizziness, drowsiness, hallucinations, and orthostatic hypotension (low blood pressure upon standing). It is important for patients taking this medication to follow their healthcare provider's instructions carefully and report any unusual symptoms or concerns.

Muscle rigidity is a term used to describe an increased resistance to passive movement or muscle tone that is present at rest, which cannot be overcome by the person. It is a common finding in various neurological conditions such as Parkinson's disease, stiff-person syndrome, and tetanus. In these conditions, muscle rigidity can result from hyperexcitability of the stretch reflex arc or abnormalities in the basal ganglia circuitry.

Muscle rigidity should be distinguished from spasticity, which is a velocity-dependent increase in muscle tone that occurs during voluntary movement or passive stretching. Spasticity is often seen in upper motor neuron lesions such as stroke or spinal cord injury.

It's important to note that the assessment of muscle rigidity requires a careful physical examination and may need to be evaluated in conjunction with other signs and symptoms to determine an underlying cause.

Electroencephalography (EEG) is a medical procedure that records electrical activity in the brain. It uses small, metal discs called electrodes, which are attached to the scalp with paste or a specialized cap. These electrodes detect tiny electrical charges that result from the activity of brain cells, and the EEG machine then amplifies and records these signals.

EEG is used to diagnose various conditions related to the brain, such as seizures, sleep disorders, head injuries, infections, and degenerative diseases like Alzheimer's or Parkinson's. It can also be used during surgery to monitor brain activity and ensure that surgical procedures do not interfere with vital functions.

EEG is a safe and non-invasive procedure that typically takes about 30 minutes to an hour to complete, although longer recordings may be necessary in some cases. Patients are usually asked to relax and remain still during the test, as movement can affect the quality of the recording.

Electromyography (EMG) is a medical diagnostic procedure that measures the electrical activity of skeletal muscles during contraction and at rest. It involves inserting a thin needle electrode into the muscle to record the electrical signals generated by the muscle fibers. These signals are then displayed on an oscilloscope and may be heard through a speaker.

EMG can help diagnose various neuromuscular disorders, such as muscle weakness, numbness, or pain, and can distinguish between muscle and nerve disorders. It is often used in conjunction with other diagnostic tests, such as nerve conduction studies, to provide a comprehensive evaluation of the nervous system.

EMG is typically performed by a neurologist or a physiatrist, and the procedure may cause some discomfort or pain, although this is usually minimal. The results of an EMG can help guide treatment decisions and monitor the progression of neuromuscular conditions over time.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.

Nephrotic syndrome is a group of symptoms that indicate kidney damage, specifically damage to the glomeruli—the tiny blood vessel clusters in the kidneys that filter waste and excess fluids from the blood. The main features of nephrotic syndrome are:

1. Proteinuria (excess protein in urine): Large amounts of a protein called albumin leak into the urine due to damaged glomeruli, which can't properly filter proteins. This leads to low levels of albumin in the blood, causing fluid buildup and swelling.
2. Hypoalbuminemia (low blood albumin levels): As albumin leaks into the urine, the concentration of albumin in the blood decreases, leading to hypoalbuminemia. This can cause edema (swelling), particularly in the legs, ankles, and feet.
3. Edema (fluid retention and swelling): With low levels of albumin in the blood, fluids move into the surrounding tissues, causing swelling or puffiness. The swelling is most noticeable around the eyes, face, hands, feet, and abdomen.
4. Hyperlipidemia (high lipid/cholesterol levels): The kidneys play a role in regulating lipid metabolism. Damage to the glomeruli can lead to increased lipid production and high cholesterol levels in the blood.

Nephrotic syndrome can result from various underlying kidney diseases, such as minimal change disease, membranous nephropathy, or focal segmental glomerulosclerosis. Treatment depends on the underlying cause and may include medications to control inflammation, manage high blood pressure, and reduce proteinuria. In some cases, dietary modifications and lifestyle changes are also recommended.

Sjögren's syndrome is a chronic autoimmune disorder in which the body's immune system mistakenly attacks its own moisture-producing glands, particularly the tear and salivary glands. This can lead to symptoms such as dry eyes, dry mouth, and dryness in other areas of the body. In some cases, it may also affect other organs, leading to a variety of complications.

There are two types of Sjögren's syndrome: primary and secondary. Primary Sjögren's syndrome occurs when the condition develops on its own, while secondary Sjögren's syndrome occurs when it develops in conjunction with another autoimmune disease, such as rheumatoid arthritis or lupus.

The exact cause of Sjögren's syndrome is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Treatment typically focuses on relieving symptoms and may include artificial tears, saliva substitutes, medications to stimulate saliva production, and immunosuppressive drugs in more severe cases.

Tonic-clonic epilepsy, also known as grand mal epilepsy, is a type of generalized seizure that affects the entire brain. This type of epilepsy is characterized by two distinct phases: the tonic phase and the clonic phase.

During the tonic phase, which usually lasts for about 10-20 seconds, the person loses consciousness and their muscles stiffen, causing them to fall to the ground. This can result in injuries if the person falls unexpectedly or hits an object on the way down.

The clonic phase follows immediately after the tonic phase and is characterized by rhythmic jerking movements of the limbs, face, and neck. These movements are caused by alternating contractions and relaxations of the muscles and can last for several minutes. The person may also lose bladder or bowel control during this phase.

After the seizure, the person may feel tired, confused, and disoriented. They may also have a headache, sore muscles, and difficulty remembering what happened during the seizure.

Tonic-clonic epilepsy can be caused by a variety of factors, including genetics, brain injury, infection, or stroke. It is typically diagnosed through a combination of medical history, physical examination, and diagnostic tests such as an electroencephalogram (EEG) or imaging studies. Treatment may include medication, surgery, or dietary changes, depending on the underlying cause and severity of the seizures.

... (OMS), also known as opsoclonus-myoclonus-ataxia (OMA), is a rare neurological disorder of ... Paraneoplastic Opsoclonus-Myoclonus Ataxia (POMA) "Orphanet: Opsoclonus myoclonus syndrome". www.orpha.net. Retrieved 29 ... The description opsoclonus, myoclonus, ataxia, (61) and encephalopathy (62) may be the most complete, but opsoclonus-myoclonus ... Rare cases of Opsoclonus myoclonus syndrome associated with Lyme disease have also been reported. OMS is not generally ...
Opsoclonus-myoclonus syndrome (OMS) is a condition that develops in children as a result of anti-Hu antibodies. The illness ... Blaes F, Fühlhuber V, Preissner KT (2007). "Identification of autoantigens in pediatric opsoclonus-myoclonus syndrome". Expert ... Pranzatelli MR (1996). "The immunopharmacology of the opsoclonus-myoclonus syndrome". Clin Neuropharmacol. 19 (1): 1-47. doi: ... Armstrong MB, Robertson PL, Castle VP (2005). "Delayed, recurrent opsoclonus-myoclonus syndrome responding to plasmapheresis". ...
It frequently occurs along with myoclonus in opsoclonus myoclonus syndrome. Clonus Migraine Epilepsy Pathologic nystagmus ... Opsoclonus refers to uncontrolled, irregular, and nonrhythmic eye movement. Opsoclonus consists of rapid, involuntary, ... Other considerations include GLUT1 Deficiency Syndrome, multiple sclerosis, toxins, medication effects (e.g. Serotonin Syndrome ... The movements of opsoclonus may have a very small amplitude, appearing as tiny deviations from primary position. Possible ...
... and T-cell markers in opsoclonus-myoclonus syndrome: Immunophenotyping of CSF lymphocytes". Neurology. 62 (9): 1526-1532. doi: ... Some, such as chronic fatigue syndrome, are controversial. These conditions are included here because they are frequently ... Murinson BB (2004). "Stiff-person syndrome". Neurologist. 10 (3): 131-7. doi:10.1097/01.nrl.0000126587.37087.1a. PMID 15140273 ... "POEMS syndrome: definitions and long-term outcome". Blood. 101 (7): 2496-506. doi:10.1182/blood-2002-07-2299. PMID 12456500. ...
... missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome". Journal ... "Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene". Journal of Medical Genetics. 49 (6): 391-9. doi: ...
... "opsoclonus myoclonus" syndrome, sometimes called Kinsbourne syndrome in his honor. He also was first to describe "hiatus hernia ... " with contortions of the neck, subsequently called Sandifer Syndrome in honor of his mentor, Dr. Paul Sandifer. Dr. ...
... opsoclonus myoclonus syndrome (a paraneoplastic syndrome), and Nigerian seasonal ataxia (or African seasonal ataxia). In ... Wernicke's encephalopathy (WE), Korsakoff syndrome (also called alcohol amnestic disorder), and Wernicke-Korsakoff syndrome are ... Korsakoff syndrome, in general, is considered to occur with deterioration of brain function in patients initially diagnosed ... The Wernicke-Korsakoff Syndrome and Related Neurologic Disorders Due to Alcoholism and Malnutrition. 2nd ed. Philadelphia: FA ...
Canada Opsoclonus Myoclonus Ataxia, a neurological disorder also known as Opsoclonus myoclonus syndrome Otitis media acuta, an ...
... restless legs syndrome, chorea, parkinsonism, Tourette syndrome, palatal tremor, myoclonus, dystonia, opsoclonus myoclonus ... The new syndrome has been named non-celiac gluten sensitivity (NCGS) or gluten sensitivity (GS). Verdu EF, Armstrong D, Murray ... Cortical myoclonus appears to be treatment-resistant on both gluten-free diet and immunosuppression. Approximately one third of ... NCGS is the most common syndrome of gluten-related disorders with prevalence rates between 0.5%-13% in the general population. ...
... opsoclonus myoclonus ataxia syndrome, anti-NMDA receptor encephalitis, and polymyositis. The following diseases manifest by ... A paraneoplastic syndrome is a syndrome (a set of signs and symptoms) that is the consequence of a tumor in the body (usually a ... Paraneoplastic Syndromes, 2011, Darnell & Posner NINDS Paraneoplastic Syndromes Information Page Archived 2015-01-04 at the ... The following diseases manifest by means of endocrine dysfunction: Cushing syndrome, syndrome of inappropriate antidiuretic ...
Opsoclonus-myoclonus-ataxia syndrome Miller-Fisher syndrome Meningoencephalitis Cerebral abscess Tumor Hydrocephalus Inner-ear ... where associations of reversible cerebellar syndrome were observed. Another early case was documented in 1905. Batten described ... www.bettermedicine.com/article/cerebellar-ataxia-syndrome/symptoms%7B%7Bfull%7Cdate%3DAugust 2015 MedlinePlus Encyclopedia: ... "A Reversible Posterior Leukoencephalopathy Syndrome". New England Journal of Medicine. 334 (8): 494-500. doi:10.1056/ ...
Ontario Oregon Opsoclonus myoclonus syndrome Oral and maxillofacial surgery Oral Morphine Solution Osteopathic Medical Student ...
Horner's syndrome (cervical tumor, 2.4% of cases), opsoclonus myoclonus syndrome and ataxia (suspected paraneoplastic cause, ... which results in the 1q21.1 deletion syndrome or 1q21.1 duplication syndrome. Several risk factors have been proposed and are ... Neuroblastoma is also a feature of neurofibromatosis type 1 and the Beckwith-Wiedemann syndrome. MYCN oncogene amplification ...
... restless legs syndrome, chorea, parkinsonism, Tourette syndrome, palatal tremor, myoclonus, dystonia, opsoclonus myoclonus ... Myoclonus, palatal tremor, and opsoclonus-myoclonus may also appear. Early diagnosis and treatment with a gluten-free diet can ... Cortical myoclonus appears to be treatment-resistant on both gluten-free diet and immunosuppression. People with gluten-related ... NCGS is the most common syndrome of gluten intolerance, with a prevalence estimated to be 6-10%. NCGS is becoming a more common ...
... also called startle syndrome Migraine Narcolepsy Non-epileptic myoclonus Opsoclonus Parasomnias, including night terrors ...
... syndrome Omenn syndrome One and a half syndrome Oneiroid syndrome Opitz G/BBB Syndrome Opsoclonus myoclonus syndrome Oral ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
Miller Fisher syndrome Multiple sclerosis Myasthenia gravis Neuromyelitis optica Opsoclonus myoclonus syndrome PANDAS syndrome ... disease in infants and neonates Guillain-Barré syndrome HELLP syndrome HIV-related neuropathy Hyperviscosity syndromes: ... Acute disseminated encephalomyelitis (ADEM) Antiphospholipid antibody syndrome (APS or APLS) Behcet syndrome Chronic ... such as Goodpasture's syndrome, Guillain-Barré syndrome, lupus, myasthenia gravis, and thrombotic thrombocytopenic purpura. ...
Lance JW (1986). "Action myoclonus, Ramsay Hunt syndrome, and other cerebellar myoclonic syndromes". Adv Neurol. 43: 33-55. ... opsoclonus myoclonus, Creutzfeldt-Jakob disease, Lyme disease and lupus. Myoclonic jerks commonly occur in persons with ... Jul 2009). "Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus". Expert Opin ... Spinal myoclonus is myoclonus originating in the spinal cord, including segmental and propriospinal myoclonus. The latter is ...
Other presentations include ataxia and opsoclonus-myoclonus. In a small series of 20 patients with anti-GABA-BR, about 50% were ... The main neurological syndromes associated with anti-GAD antibodies include stiff-person syndrome, cerebellar ataxia, epilepsy ... Patients with anti-mGluR5-abs present with a form of encephalitis named "Ophelia syndrome", a clinical syndrome that includes ... in patients with progressive encephalomyelitis with rigidity and myoclonus and later in patients with stiff-person syndrome. ...
Opsoclonus myoclonus syndrome Optic neuritis Orthostatic hypotension O'Sullivan-McLeod syndrome Otosclerosis Overuse syndrome ... 15 Joubert syndrome Karak syndrome Kearns-Sayre syndrome Kinsbourne syndrome Kleine-Levin syndrome Klippel Feil syndrome Krabbe ... Febrile seizures Fisher syndrome Fibromyalgia Foville's syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome ... syndrome Shingles Shy-Drager syndrome Sjögren's syndrome Sleep apnea Sleeping sickness Slurred speech Snatiation Sotos syndrome ...
Myoclonus, palatal tremor, and opsoclonus-myoclonus may also appear. Early diagnosis and treatment with a gluten-free diet can ... One-fourth of people with Sjögren's syndrome had responses to gluten; of five that had positive response to gluten, only one ... in a few people with irritable bowel syndrome, the authors found no difference between gluten or placebo groups and the concept ... Non-celiac gluten sensitivity (NCGS), or gluten sensitivity (GS), is a possible syndrome in which people develop a variety of ...
Myoclonus, palatal tremor, and opsoclonus-myoclonus may also appear. Early diagnosis and treatment with a gluten-free diet can ... For this reason, it is a controversial syndrome and some authors still question it. There is evidence that not only gliadin ( ... in a few people with irritable bowel syndrome, the authors found no difference between gluten or placebo groups and the concept ... People with NCGS may develop gastrointestinal symptoms, which resemble those of irritable bowel syndrome (IBS) or a variety of ...
... opsoclonus-myoclonus, parkinsonism, hemifacial spasm, and Holmes tremor Frequent hunger without other symptoms can also ... Also, a life-threatening consequence of hyperglycemia can be nonketotic hyperosmolar syndrome. Perioperative hyperglycemia has ... Hyperglycaemia may thus be seen in: Cushing's syndrome, pheochromocytoma, acromegaly, hyperglucagonemia, and hyperthyroidism. ... "Glucose Metabolism Abnormalities in Cushing Syndrome: From Molecular Basis to Clinical Management". Endocrine Reviews. 38 (3): ...
Bruns nystagmus Myoclonus Oscillopsia Opsoclonus Optokinetic nystagmus Zahn JR (July 1978). "Incidence and characteristics of ... monochromatism Visual-motor syndrome of functional monophthalmus Latent nystagmus Noonan syndrome Nystagmus blockage syndrome X ... It can be insular or accompany other disorders (such as micro-ophthalmic anomalies or Down syndrome). Early-onset nystagmus ... Wernicke encephalopathy and Korsakoff syndrome are forms of dry beriberi. Central nervous system disorders such as with a ...
Opsoclonus myoclonus syndrome (OMS), also known as opsoclonus-myoclonus-ataxia (OMA), is a rare neurological disorder of ... Paraneoplastic Opsoclonus-Myoclonus Ataxia (POMA) "Orphanet: Opsoclonus myoclonus syndrome". www.orpha.net. Retrieved 29 ... The description opsoclonus, myoclonus, ataxia, (61) and encephalopathy (62) may be the most complete, but opsoclonus-myoclonus ... Rare cases of Opsoclonus myoclonus syndrome associated with Lyme disease have also been reported. OMS is not generally ...
Opsoclonus myoclonus is a rare neurological disorder characterized by the following symptoms: ... Vaccines are linked to Opsoclonus-Myoclonus Syndrome.. If you or a loved one developed nerve damage after receiving a ... Opsoclonus myoclonus may occur in association with tumors or viral infections. It is often seen in children with tumors. ...
Opsoclonus-myoclonus syndrome is a combination of involuntary, arrhythmic, conjugate saccadic eye movements with myoclonus. The ... Sequential fluctuating paraneoplastic ocular flutter-opsoclonus-myoclonus syndrome and Lambert-Eaton myasthenic syndrome in ... Opsoclonus myoclonus syndrome due to squamous cell carcinoma of the oesophagus. Alexander M Rossor et al., BMJ Case Reports, ... Opsoclonus myoclonus ataxia syndrome, ovarian teratoma and anti-NMDAR antibody: an unresolved mystery. Angel T Miraclin et al ...
Learn and reinforce your understanding of Opsoclonus myoclonus syndrome (NORD). ... Opsoclonus myoclonus syndrome (NORD) Videos, Flashcards, High Yield Notes, & Practice Questions. ... Opsoclonus-myoclonus syndrome (OMS) is a rare condition, characterized by rapid, uncontrolled eye movements (opsoclonus) and ... Opsoclonus-myoclonus syndrome is also called OMS or dancing eyes-dancing feet syndrome. ...
There was no evidence for any other etiology responsible for her opsoclonus-myoclonus syndrome. Her opsoclonus-myoclonus ... Opsoclonus-myoclonus-ataxia syndrome continued for 4 weeks after onset, when she died. ... both in her serum and cerebrospinal fluid and was associated with encephalitis and opsoclonus-myoclonus-ataxia syndrome. ... generalized myoclonus and failure to rise or stand. Our objective is to describe a patient with West Nile infection, which was ...
Transient opsoclonus-myoclonus syndrome secondary to neuroblastoma. Roshan Koul, Amna Al-Futaisi, Ranjan Williams, Hashim Javad ... Transient opsoclonus-myoclonus syndrome secondary to neuroblastoma. Roshan Koul, Amna Al-Futaisi, Ranjan Williams, Hashim Javad ... Transient opsoclonus-myoclonus syndrome secondary to neuroblastoma. Roshan Koul, Amna Al-Futaisi, Ranjan Williams, Hashim Javad ... Transient opsoclonus-myoclonus syndrome secondary to neuroblastoma Message Subject (Your Name) has sent you a message from ...
Opsoclonus-myoclonus syndrome during rituximab treatment for autoimmune autonomic ganglionopathy. Oana M. Dumitrascu, Andrew ... Opsoclonus-myoclonus syndrome during rituximab treatment for autoimmune autonomic ganglionopathy. Oana M. Dumitrascu, Andrew ... Adult-onset opsoclonus-myoclonus syndrome (OMS) is an autoimmune disorder with paraneoplastic, parainfectious, or idiopathic ... Neurologic examination 1.5 weeks after the second rituximab infusion revealed opsoclonus, myoclonic limb movements, and truncal ...
This report represents an unusual clinical syndrome associated with viral co-infection and reinforces the need for clinical ... Although most commonly related to paraneoplastic syndrome, this condition has occasionally been described following infectious ... myoclonus, cerebellar ataxia, sleep disturbances, and cognitive dysfunction. ... Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder characterized by irregular multidirectional eye ...
They are defined as clinical syndromes involving nonmetastatic systemic effects that accompany malignant disease. ... Paraneoplastic syndromes are rare disorders that are triggered by an altered immune system response to a neoplasm. ... may be present in patients with opsoclonus/myoclonus syndrome ... Review of endocrine syndromes associated with tumours of non- ... Autoimmune Syndromes Presenting as a Paraneoplastic Manifestation of Myelodysplastic Syndromes: Clinical Features, Course, ...
Do Vaccines Cause Opsoclonus Myoclonus Syndrome? Vaccines currently routinely recommended to the general population in the U.S ...
... opsoclonus-myoclonus-ataxia syndrome, n = 1); +, positive. ... and Guillain-Barré syndrome cases not shown. The area with n= 9 ...
Failure to prove entitlement; DTaP; opsoclonus-myoclonus syndrome; fourth dose of vaccination. Signed by Special Master Moran. ... Sudden Infant Death Syndrome;Death Within Hours Of Vaccination; No Entitlement to Program Compensation. Signed by Special ... DTaP, Pertussis Encephalopathy, Death, Sudden Infant Death (Syndrome)(SID(S)), Positional Asphyxia, Table, Actual Cause, ...
Adult-onset opsoclonus-myoclonus syndrome due to West Nile virus treated with IVIG. J Neurovirol. 2017; 23(1):158-159. ... such as Guillain-Barré syndrome, transverse myelitis, or other immune-mediated etiologies. If an alternative diagnosis for the ...
Opsoclonus-myoclonus in Aicardi-Goutières syndrome. Alburaiky S, Dale RC, Crow YJ, Jones HF, Wassmer E, Melki I, Boespflug- ... Hemiconvulsion-hemiplegia-epilepsy syndrome: current understandings. Auvin S, Bellavoine V, Merdariu D, Delanoë C, Elmaleh- ... Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome. Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, ...
Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective. Rossor T, Yeh EA, ... Proposal to optimize evaluation and treatment of Febrile infection-related epilepsy syndrome (FIRES): A Report from FIRES ...
High Dose Pulsatile Dexamethasone Therapy in Children with Opsoclonus-Myoclonus Syndrome * Full Text ...
Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice ...
Uncontrolled eye movements or leg and feet movements (called opsoclonus-myoclonus syndrome, or "dancing eyes and dancing feet ...
Sequential fluctuating paraneoplastic ocular fluttr - opsoclonus - myoclonus syndrome and Lambert - Eaton myasthenic syndrome ... Spontaneously resolving paraneoplastic ocular flutter-opsoclonus-myoclonus syndrome in association with treatment-sensitive ... the co-occurrence of paraneoplastic opsoclonus-myoclonus syndrome and LEMS has not been previously reported. A 67-year-old ... Paraneoplastic cerebellar degeneration may occur in association with Lambert-Eaton myasthenic syndrome (LEMS), but to our ...
Increased Prevalence of Autoimmune Disorders and Autoantibodies in Parents of Children with Opsoclonus-Myoclonus Syndrome (OMS ...
Onat Syndrome Opitz Reynolds Fitzgerald syndrome Opsoclonus-Myoclonus Syndrome + optic atrophy 11 ... urofacial syndrome + A syndrome that is characterized by inverted facial expressions in association with a severe and early- ... Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome ... urofacial syndrome (DOID:0050816). Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: ( ...
Post-COVID opsoclonus myoclonus syndrome: a case report from Pakistan. Ishaq, Hira, Durrani, Talha, Umar, Zainab, Khan, Nemat, ... Post-COVID opsoclonus myoclonus syndrome: a case report from Pakistan. Frontiers in Neurology, 12 672524, 672524. doi: 10.3389/ ... Adulterant profile of illicit street heroin and reduction of its precipitated physical dependence withdrawal syndrome by ... Adulterant profile of illicit street heroin and reduction of its precipitated physical dependence withdrawal syndrome by ...
Paraneoplastic syndromes are a group of syndromes that develop in some people with cancer. Learn about types linked to small ... Opsoclonus-myoclonus ataxia: This condition is characterized by abnormal movements of the limbs and eyes, sleep patterns, and ... Ectopic Cushing syndrome occurs in 1-5%. of cases.. An estimated 3-5%. of people with SCLC also have neurologic syndromes. ... Paraneoplastic syndromes are a group of syndromes that develop in some people with cancer. Small cell lung cancer is the most ...
According to CHOA, patient Anna Grace was diagnosed with neuroblastoma and opsoclonus-myoclonus syndrome (OMS) at just 22- ...
2019 Mental development of children suffering from opsoclonus-myoclonus syndrome: factors of age and number of relapses ( ... 2019 Structure of the disturbances in mental development in children with opsoclonus-myoclonus syndrome (Устный) ... 2019 Burnout syndrome and chronic fatigue prevention by means of human functional states self-regulation (Стендовый) ... 2019 Methodology of psychological syndrome analysis (Vygotsky-Luria school) and biopsychosocial model of health and disease: ...
Desai, J., & Mitchell, W. G. (2012). Acute cerebellar ataxia, acute cerebellitis, and opsoclonus- myoclonus syndrome. Journal ...
Paraneoplastic Opsoclonus-Myoclonus Syndrome Preceding a Mucosal Malignant Melanoma Flora Dresco, François Aubin, Elise Deveza ... Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome Luana Niculescu ... Prevalence and Description of Hidradenitis Suppurativa in Down Syndrome: A Cross-sectional Study of 783 Subjects Florence ...
Churg-Strauss syndrome, refractory autoimmune hemolytic anemia, opsoclonus-myoclonus, Hyper IgE syndrome, FAIT, Parvovirus B19 ... Lambert-Eaton myasthenic syndrome, stiffman syndrome, pemphigus vulgaris, SLE, HDN, multiple myeloma, TSS, streptococcal ... Guillain-Barre; Lambert-Eaton Myasthenic; Stiffman Syndrome (Off-label). 400 mg/kg IV qDay x5 days or 1 g/kg qDay x 2 days ... Primary Immunodeficiency Syndrome. Indicated as replacement therapy for primary humoral immunodeficiency (PI); this includes, ...
Medical Issues, Opsoclonus Myoclonus Syndrome. Annual Retesting for Opsoclonus Myoclonus Syndrome. July 9, 2022. January 18, ... Opsoclonus Myoclonus Syndrome2 Comments Medical Issues, Opsoclonus Myoclonus Syndrome. Little Lies Along the Way = Fear Amongst ... Opsoclonus Myoclonus Syndrome, Vanderbilt University hospital1 Comment Faith Journey, Medical Issues, Opsoclonus Myoclonus ... Opsoclonus Myoclonus Syndrome, prophecy, rare disease, rare medical condition1 Comment Depression, Medical Issues, Opsoclonus ...
  • Opsoclonus-myoclonus-ataxia syndrome associated with chikungunya and dengue virus co-infection. (ox.ac.uk)
  • Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder characterized by irregular multidirectional eye movements, myoclonus, cerebellar ataxia, sleep disturbances, and cognitive dysfunction. (ox.ac.uk)
  • Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective. (nih.gov)
  • Corrigendum to "Antibodies to dendritic neuronal surface antigens in opsoclonus myoclonus ataxia syndrome" [J. Neuroimmunol. (bvsalud.org)
  • She has expertise in assessing children and adolescents with childhood cancer as well as neuro-immunological disorders, including opsoclonus-myoclonus-ataxia syndrome ("dancing eyes syndrome"), central nervous system vasculitis, Hashimoto's encephalopathy, lupus, auto-immune encephalitis, multiple sclerosis (MS), acute disseminated encephalomyelitis (ADEM), and acute transverse myelitis (ATM), and optic neuritis. (nesca-newton.com)
  • Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS) Associated with SARS-CoV-2 Infection: Post-Infectious Neurological Complication with Benign Prognosis. (musc.edu)
  • Most autoantibodies involved in paraneoplastic syndromes are directed against nervous system structures. (medscape.com)
  • Paraneoplastic syndromes are groups of certain signs and symptoms that develop in some people with cancer. (healthline.com)
  • Some paraneoplastic syndromes develop when your immune system overreacts to a tumor and mounts a strong attack against it. (healthline.com)
  • Other paraneoplastic syndromes are caused by cancer cells releasing hormones or other substances. (healthline.com)
  • SCLC is the type of cancer most associated with the development of paraneoplastic syndromes. (healthline.com)
  • In this article, we take a deeper look at paraneoplastic syndromes and how they relate to SCLC. (healthline.com)
  • What are paraneoplastic syndromes? (healthline.com)
  • Many paraneoplastic syndromes are triggered by an abnormal immune response where antibodies or a type of white blood cell called T cells attack and damage healthy cells. (healthline.com)
  • Many different types of paraneoplastic syndromes have been identified. (healthline.com)
  • When these cells become cancerous, they can overproduce hormones or other biologically active substances that lead to the development of endocrine paraneoplastic syndromes. (healthline.com)
  • The most common endocrine paraneoplastic syndromes in people with SCLC are SIADH and Ectopic Cushing syndrome. (healthline.com)
  • Paraneoplastic syndromes tend to develop in middle-aged or older adults. (healthline.com)
  • What are the symptoms of paraneoplastic syndromes with SCLC? (healthline.com)
  • Symptoms of paraneoplastic syndromes can precede (come before) symptoms of cancer. (healthline.com)
  • Principles of cancer care , paraneoplastic syndromes , and tumor markers are covered in detail in their respective articles. (amboss.com)
  • Paraneoplastic syndromes may affect many different organ systems, including the nervous system and the endocrine (hormone) system, causing such problems as nervous system changes, low blood sugar, diarrhea, or high blood pressure. (msdmanuals.com)
  • This case illustrates that transient opsoclonus-myoclonus may occur with neuroblastoma and should not be assumed to be due to viral cause. (org.sa)
  • Thus, a thorough search for occult neuroblastoma should be initiated even if opsoclonus-myoclonus resolves spontaneously. (org.sa)
  • According to CHOA, patient Anna Grace was diagnosed with neuroblastoma and opsoclonus-myoclonus syndrome (OMS) at just 22-months-old. (fox5dc.com)
  • Opsoclonus myoclonus syndrome (OMS), also known as opsoclonus-myoclonus-ataxia (OMA), is a rare neurological disorder of unknown cause which appears to be the result of an autoimmune process involving the nervous system. (wikipedia.org)
  • Excluded cases, acute disseminated encephalomyelitis cases, and Guillain-Barré syndrome cases not shown. (cdc.gov)
  • This guidance is not intended to be generalized to all forms or etiologies of acute flaccid paralysis, such as Guillain-Barré syndrome, transverse myelitis, or other immune-mediated etiologies. (cdc.gov)
  • Acute cerebellar ataxia, acute cerebellitis, and opsoclonus- myoclonus syndrome. (bvsalud.org)
  • A 67-year-old woman presented with a complex partial seizure and evolving ocular flutter, opsoclonus, myoclo. (researchgate.net)
  • Opsoclonus-myoclonus syndrome is a combination of involuntary, arrhythmic, conjugate saccadic eye movements with myoclonus. (bmj.com)
  • Myoclonus describes lightening-like limb movements or limb jerks, that can also be more tremulous. (osmosis.org)
  • Opsoclonus- myoclonus syndrome (OMS) is a rare condition, characterized by rapid, uncontrolled eye movements (opsoclonus) and sudden twitching or jerking of muscles (myoclonus). (osmosis.org)
  • Neurologic examination 1.5 weeks after the second rituximab infusion revealed opsoclonus, myoclonic limb movements, and truncal ataxia. (neurology.org)
  • Neurological examination revealed abnormal chaotic multidirectional movement of eyes suggestive of opsoclonus with evidence of myoclonic jerks involving all four limbs, face and eyelids [Videos Video 1 and 2 ]. (ruralneuropractice.com)
  • Her current research interests include cognitive and behavioral aspects of childhood epilepsy, clinical research in anticonvulsants, and a rare immune-mediated syndrome, opsoclonus-myoclonus (or dancing eyes syndrome). (kidsinthehouse.com)
  • In 2021, an international panel of experts published an update to the 2004 criteria for the diagnosis of paraneoplastic neurologic syndromes. (medscape.com)
  • The update includes a new clinical scoring system for diagnosis of paraneoplastic neurologic syndrome, the Paraneoplastic (PNS)-Care Score. (medscape.com)
  • An estimated 3-5% of people with SCLC also have neurologic syndromes. (healthline.com)
  • Paraneoplastic cerebellar degeneration may occur in association with Lambert-Eaton myasthenic syndrome (LEMS), but to our knowledge, the co-occurrence of paraneoplastic opsoclonus-myoclonus syndrome and LEMS has not been previously reported. (researchgate.net)
  • Rare cases of Opsoclonus myoclonus syndrome associated with Lyme disease have also been reported. (wikipedia.org)
  • Researchers estimate that about 10% of people with SCLC develop a paraneoplastic syndrome. (healthline.com)
  • About 20% of people with cancer develop a paraneoplastic syndrome. (msdmanuals.com)
  • The diagnosis of OMS is also often based on symptoms like opsoclonus and myoclonus which can appear abruptly, progressing over days to weeks. (osmosis.org)
  • Language, executive function and social cognition in the diagnosis of frontotemporal dementia syndromes. (gov.gy)
  • Diagnosis of the paraneoplastic syndrome often includes testing for the substance circulating in the bloodstream that causes the paraneoplastic syndrome. (msdmanuals.com)
  • Adult-onset opsoclonus-myoclonus syndrome (OMS) is an autoimmune disorder with paraneoplastic, parainfectious, or idiopathic etiologies. (neurology.org)
  • The National Organization for Rare Disorders (NORD) recommends FLAIR therapy consisting of a three-agent protocol involving front-loaded high-dose ACTH, IVIg, and rituximab that was developed by the National Pediatric Myoclonus Center, and has the best-documented outcomes. (wikipedia.org)
  • The term paraneoplastic syndrome has been used since the 1940s to describe groups of signs and symptoms that develop in some people with cancer. (healthline.com)
  • Symptoms vary depending on which syndrome you have. (healthline.com)
  • Vertigo-like symptoms may also appear as paraneoplastic syndrome (PNS) in the form of opsoclonus myoclonus syndrome. (findmeacure.com)
  • syndromes occur when a cancer causes unusual symptoms due to substances that circulate in the bloodstream. (msdmanuals.com)
  • Treatment of a paraneoplastic syndrome initially involves treating the symptoms. (msdmanuals.com)
  • Examples are thyroid , adrenal , sex hormone imbalances, anxiety or depression , yeast overgrowth or intestinal issues , fibromyalgia , autoimmune disorders , Migraines , Chronic Headaches and fatigue syndrome . (drhagmeyer.com)
  • in the blood (hypercalcemic syndrome) may occur in people with solid tumors or leukemias. (msdmanuals.com)
  • Carcinoid Tumors and Carcinoid Syndrome Carcinoid tumors are noncancerous (benign) or cancerous (malignant) growths that sometimes produce excessive amounts of hormone-like substances (such as serotonin), resulting in the carcinoid. (msdmanuals.com)
  • It is one of the few paraneoplastic (meaning 'indirectly caused by cancer') syndromes that occurs in both children and adults, although the mechanism of immune dysfunction underlying the adult syndrome is probably quite different. (wikipedia.org)
  • The precise cause of OMS is unknown, but in children, it's often due to a paraneoplastic syndrome. (osmosis.org)
  • These syndromes are estimated to develop in 1-7.4% of people with cancer. (healthline.com)
  • Eventually, treating the underlying cancer is the best way to control a paraneoplastic syndrome. (msdmanuals.com)
  • Hypercalcemic syndrome can occur when the cancer secretes into the blood a hormone-like substance (similar to parathyroid hormone ) that causes release of calcium from bone. (msdmanuals.com)
  • Lambert-Eaton myasthenic syndrome is a rare autoimmune condition that causes miscommunication between your nerves and muscles. (healthline.com)
  • Ectopic Cushing syndrome occurs in 1-5% of cases. (healthline.com)
  • Cushing Syndrome In Cushing syndrome, the level of corticosteroids is excessive, usually due to taking corticosteroid drugs or overproduction by the adrenal glands. (msdmanuals.com)
  • Cushing syndrome usually results from taking. (msdmanuals.com)
  • This report represents an unusual clinical syndrome associated with viral co-infection and reinforces the need for clinical vigilance with regard to neurological syndromes in the context of emergent arboviruses. (ox.ac.uk)
  • The opsoclonus, myoclonus, and ataxia disappeared without treatment. (org.sa)
  • The syndrome is characterized by the degeneration of a part of your brain called the cerebellum . (healthline.com)
  • After 2 days, he developed opsoclonus-myoclonus, and then bronchorrhoea and bradycardia, raising suspicion of organophosphate poisoning. (bmj.com)
  • However, 6 weeks later she presented again with classic opsoclonus-myoclonus syndrome. (org.sa)
  • Although most commonly related to paraneoplastic syndrome, this condition has occasionally been described following infectious illnesses. (ox.ac.uk)
  • These syndromes can form when your immune system attacks healthy neurological cells. (healthline.com)
  • Opsoclonus- myoclonus syndrome is also called OMS or dancing eyes-dancing feet syndrome. (osmosis.org)