An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.
An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)
Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378)
Spasm of the large- or medium-sized coronary arteries.
A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA.
An ergot alkaloid (ERGOT ALKALOIDS) with uterine and VASCULAR SMOOTH MUSCLE contractile properties.
A clinical syndrome characterized by the development of CHEST PAIN at rest with concomitant transient ST segment elevation in the ELECTROCARDIOGRAM, but with preserved exercise capacity.
Muscles of facial expression or mimetic muscles that include the numerous muscles supplied by the facial nerve that are attached to and move the skin of the face. (From Stedman, 25th ed)
Excessive winking; tonic or clonic spasm of the orbicularis oculi muscle.
An analogue of GAMMA-AMINOBUTYRIC ACID. It is an irreversible inhibitor of 4-AMINOBUTYRATE TRANSAMINASE, the enzyme responsible for the catabolism of GAMMA-AMINOBUTYRIC ACID. (From Martindale The Extra Pharmacopoeia, 31st ed)
Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.
Drugs used for their actions on skeletal muscle. Included are agents that act directly on skeletal muscle, those that alter neuromuscular transmission (NEUROMUSCULAR BLOCKING AGENTS), and drugs that act centrally as skeletal muscle relaxants (MUSCLE RELAXANTS, CENTRAL). Drugs used in the treatment of movement disorders are ANTI-DYSKINESIA AGENTS.
A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a "free interval") followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
The 7th cranial nerve. The facial nerve has two parts, the larger motor root which may be called the facial nerve proper, and the smaller intermediate or sensory root. Together they provide efferent innervation to the muscles of facial expression and to the lacrimal and SALIVARY GLANDS, and convey afferent information for TASTE from the anterior two-thirds of the TONGUE and for TOUCH from the EXTERNAL EAR.
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION.
Radiography of the vascular system of the heart muscle after injection of a contrast medium.
A serotype of botulinum toxins that has specificity for cleavage of SYNAPTOSOMAL-ASSOCIATED PROTEIN 25.
Drugs that stimulate contraction of the myometrium. They are used to induce LABOR, OBSTETRIC at term, to prevent or control postpartum or postabortion hemorrhage, and to assess fetal status in high risk pregnancies. They may also be used alone or with other drugs to induce abortions (ABORTIFACIENTS). Oxytocics used clinically include the neurohypophyseal hormone OXYTOCIN and certain prostaglandins and ergot alkaloids. (From AMA Drug Evaluations, 1994, p1157)
Junction between the cerebellum and the pons.
A neurotransmitter found at neuromuscular junctions, autonomic ganglia, parasympathetic effector junctions, a subset of sympathetic effector junctions, and at many sites in the central nervous system.
Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
Surgery performed to relieve pressure from MICROVESSELS that are located around nerves and are causing NERVE COMPRESSION SYNDROMES.
Drugs used to prevent SEIZURES or reduce their severity.
A volatile vasodilator which relieves ANGINA PECTORIS by stimulating GUANYLATE CYCLASE and lowering cytosolic calcium. It is also sometimes used for TOCOLYSIS and explosives.
A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)
The veins and arteries of the HEART.
Measurement of the pressure or tension of liquids or gases with a manometer.
Drugs used to cause dilation of the blood vessels.
An anterior pituitary hormone that stimulates the ADRENAL CORTEX and its production of CORTICOSTEROIDS. ACTH is a 39-amino acid polypeptide of which the N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Upon further tissue-specific processing, ACTH can yield ALPHA-MSH and corticotrophin-like intermediate lobe peptide (CLIP).
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Eponyms in medicine are terms that are named after a person, typically the physician or scientist who first described the disease, condition, or procedure, such as Alzheimer's disease or Parkinson's disease.
A characteristic symptom complex.

X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. (1/178)

In order to describe the neurological abnormalities and to identify the gene localisation, we re-evaluated a previously reported family with X linked mental retardation (XLMR). Reliable data were obtained for six of the seven affected males, of whom two had had infantile spasms. Profound MR (IQ<20) was found in one and mild MR (IQ 50-70) in five males. No dysmorphic features, except for macrocephaly in one male, were found. Neurological abnormalities included varying degrees of spinocerebellar involvement. Neuroimaging studies showed abnormalities, such as cerebellar atrophy or corpus callosum hypoplasia or both, in three of the six males. Several affected and unaffected subjects suffered from hyperhidrosis, which appeared to segregate independently as an autosomal dominant trait. Genetic linkage analysis localised the XLMR disease gene to Xp11.4-Xp22.11 with a maximum multipoint lod score of 3.57, overlapping the candidate region recently found in two Belgian XLMR-infantile spasm families. Compared to the Belgian patients, the majority of the affected males in this report had a considerably milder phenotype.  (+info)

Normal myelination of the pediatric brain imaged with fluid-attenuated inversion-recovery (FLAIR) MR imaging. (2/178)

BACKGROUND AND PURPOSE: As in adult imaging, FLAIR can be applied to pediatric brain imaging, and this requires an appreciation of the normal pediatric brain appearance by FLAIR imaging. The purpose of this study was to describe the MR appearance of the brain in normal infants and young children as demonstrated by fluid-attenuated inversion-recovery (FLAIR) MR imaging. METHODS: We retrospectively examined MR brain studies, interpreted as normal by pediatric radiologists, from 29 patients (aged 1 to 42 months) to catalog the appearance of myelination in multiple brain areas. RESULTS: On T2-weighted images, white matter progressed from hyperintense to hypointense relative to adjacent gray matter over the first 2 years of life. An analogous, although slightly delayed sequence was observed on FLAIR images with the exception of the deep cerebral hemispheric white matter, which followed a triphasic sequence of development. On FLAIR images, the deep cerebral white matter was heterogeneously hypointense relative to gray matter in the young infant, became hyperintense early in the first few months of life, and then reverted to hypointense during the second year of life. CONCLUSION: The normal appearance and development of brain white matter must be taken into account when interpreting FLAIR images of infants and young children.  (+info)

Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists. (3/178)

BACKGROUND AND RATIONALE: Infantile spasms (IS) are an age-specific seizure disorder occurring in 1:2,000 infants and associated with mental retardation in approximately 90% of affected individuals. The costs of IS in terms of loss of lifetime productivity and emotional and financial burdens on families are enormous. It is generally agreed that the seizures associated with IS respond poorly to most conventional anticonvulsants. In addition, in the majority of patients, a treatment course with high-dose corticotropin (ACTH) arrests the seizures completely within days, often without recurrence on discontinuation of the hormone. However, the severe side effects of ACTH require development of better treatments for IS. Based on the rapid, all-or-none and irreversible effects of ACTH and on the established physiological actions of this hormone, it was hypothesized that ACTH eliminated IS via an established neuroendocrine feedback mechanism involving suppression of the age-specific endogenous convulsant neuropeptide corticotropin-releasing hormone (CRH). Indeed, IS typically occur in the setting of injury or insult that activate the CNS stress system, of which CRH is a major component. CRH levels may be elevated in the IS brain, and the neuropeptide is known to cause seizures in infant rats, as well as neuronal death in brain regions involved in learning and memory. If 'excess' CRH is involved in the pathogenesis of IS, then blocking CRH receptors should eliminate both seizures and the excitotoxicity of CRH-receptor-rich neurons subserving learning and memory. PATIENTS AND METHODS: With FDA approval, alpha-helical CRH, a competitive antagonist of the peptide, was given as a phase I trial to 6 infants with IS who have either failed conventional treatment or who have suffered a recurrence. The study was performed at the Clinical Research Center of the Childrens Hospital, Los Angeles. The effects of alpha-helical CRH on autonomic parameters (blood pressure, pulse, temperature, respiration) were determined. In addition, immediate and short-term effects on ACTH and cortisol and on electrolytes and glucose were examined. The potential efficacy of alpha-helical CRH for IS was studied, using clinical diaries and video EEG. RESULTS: alpha-Helical CRH, a peptide, did not alter autonomic or biochemical parameters. Blocking peripheral CRH receptors was evident from a transient reduction in plasma ACTH and cortisol. No evidence for the compound's penetration of the blood-brain barrier was found, since no central effects on arousal, activity or seizures and EEG patterns were observed. In addition, a striking resistance of the patients' plasma ACTH to the second infusion of alpha-helical CRH was noted. CONCLUSIONS: Peptide analogs of CRH do not cross the blood-brain barrier, and their effects on peripheral stress hormones are transient and benign. Nonpeptide compouds that reach CNS receptors are required to test the hypothesis that blocking CRH receptors may ameliorate IS and its cognitive consequences.  (+info)

A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene. (4/178)

We describe a Japanese case of neonatal hyperinsulinism due to a de novo mutation (Gly446Asp) in glutamate dehydrogenase gene (GLUD1). A boy suffered from hypoglycemic coma with relative hyperinsulinemia on day 1 after birth, and received subtotal pancreatectomy. Examination of the resected pancreas revealed a diffuse increase in endocrine cells, consistent with 'nesidioblastosis'. He is now 15 years old and has exhibited mild but persistent hyperammonemia, which is a very unique feature of the disorder caused by GLUD1 activating mutations. He has also been suffering from seizures and mental retardation. Thus, GLUD1 mutations can be a cause of congenital hyperinsulinism in Japanese.  (+info)

How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis. (5/178)

West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present during infancy. Any theory for the pathogenesis of WS has to account for the unique features of this disorder. For example, how can a single entity have so many etiologies? Why does WS arise only in infancy, even when a known insult had occurred prenatally, and why does it disappear? Why is WS associated with lasting cognitive dysfunction? And, importantly, why do these seizures--unlike most others--respond to treatment by a hormone, ACTH? The established hormonal role of ACTH in human physiology is to function in the neuroendocrine cascade of the responses to all stressful stimuli, including insults to the brain. As part of this function, ACTH is known to suppress the production of corticotropin releasing hormone (CRH), a peptide that is produced in response to diverse insults and stressors.The many etiologies of WS all lead to activation of the stress response, including increased production and secretion of the stress-neurohormone CRH. CRH has been shown, in infant animal models, to cause severe seizures and death of neurons in areas involved with learning and memory. These effects of CRH are restricted to the infancy period because the receptors for CRH, which mediate its action on neurons, are most abundant during this developmental period. ACTH administration is known to inhibit production and release of CRH via a negative feedback mechanism. Therefore, the efficacy of ACTH for WS may depend on its ability to decrease the levels of the seizure-promoting stress-neurohormone CRH.This CRH-excess theory for the pathophysiology of WS is consistent not only with the profile of ACTH effects, but also with the many different 'causes' of WS, with the abnormal ACTH levels in the cerebrospinal fluid of affected infants and with the spontaneous disappearance of the seizures. Furthermore, if CRH is responsible for the seizures, and CRH-mediated neuronal injury contributes to the worsened cognitive outcome of individuals with WS, then drugs which block the actions of CRH on its receptors may provide a better therapy for this disorder.  (+info)

What are the reasons for the strikingly different approaches to the use of ACTH in infants with West syndrome? (6/178)

A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist among studies originating in different countries regarding the relative efficacy of small or large ACTH doses. These differences may be caused by a number of factors, including potential genetic or environmental-related differences in the biology of the disorder or associated genetic components that determine responsiveness to ACTH. In addition, striking differences in the preparations used around the world may be responsible. These include bio-availability and extent of blood brain barrier penetration, efficacy in activating the efficacy-mediating 'ACTH receptors', the presence in certain preparations of competing analogs, and others. These issues should not detract from the overall agreement that ACTH might be the most useful medication currently available to treat WS.  (+info)

Progressive familial myoclonus epilepsy. (7/178)

Seven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with diazepam and ethosuximide.  (+info)

Progressive myoclonic epilepsy due to Gaucher's disease in an adult. (8/178)

A 39 year old Jewish male with a 22 year history of progressive myoclonic epilepsy was found to have Gaucher cells in his sternal bone marrow. The diagnosis of Gaucher's disease was confirmed by the demonstration of beta-glucosidase deficiency in fibroblasts. Although neurological involvement is extremely rare in adults with Gaucher's disease, this disease is another lipidosis which should be considered in patients with progressive myoclonic epilepsy.  (+info)

A spasm is a sudden, involuntary contraction or tightening of a muscle, group of muscles, or a hollow organ such as the ureter or bronchi. Spasms can occur as a result of various factors including muscle fatigue, injury, irritation, or abnormal nerve activity. They can cause pain and discomfort, and in some cases, interfere with normal bodily functions. For example, a spasm in the bronchi can cause difficulty breathing, while a spasm in the ureter can cause severe pain and may lead to a kidney stone blockage. The treatment for spasms depends on the underlying cause and may include medication, physical therapy, or lifestyle changes.

Infantile spasms, also known as West syndrome, is a rare but serious type of epilepsy that affects infants typically between 4-8 months of age. The spasms are characterized by sudden, brief, and frequent muscle jerks or contractions, often involving the neck, trunk, and arms. These spasms usually occur in clusters and may cause the infant to bend forward or stretch out. Infantile spasms can be a symptom of various underlying neurological conditions and are often associated with developmental delays and regression. Early recognition and treatment are crucial for improving outcomes.

Hemifacial spasm is a neuromuscular disorder characterized by involuntary, irregular contractions or twitching of the muscles on one side of the face. These spasms typically begin around the eye and may progress to involve the muscles of the lower face, including those around the mouth.

The primary cause of hemifacial spasm is pressure on or irritation of the facial nerve (cranial nerve VII) as it exits the brainstem, often due to a blood vessel or tumor. This pressure can lead to abnormal electrical signals in the facial nerve, resulting in uncontrolled muscle contractions.

In some cases, hemifacial spasm may be associated with other conditions such as multiple sclerosis or Bell's palsy. Treatment options for hemifacial spasm include medications to help relax the muscles, botulinum toxin (Botox) injections to paralyze the affected muscles temporarily, and, in rare cases, surgical intervention to relieve pressure on the facial nerve.

Coronary vasospasm refers to a sudden constriction (narrowing) of the coronary arteries, which supply oxygenated blood to the heart muscle. This constriction can reduce or block blood flow, leading to symptoms such as chest pain (angina) or, in severe cases, a heart attack (myocardial infarction). Coronary vasospasm can occur spontaneously or be triggered by various factors, including stress, smoking, and certain medications. It is also associated with conditions such as coronary artery disease and variant angina. Prolonged or recurrent vasospasms can cause damage to the heart muscle and increase the risk of cardiovascular events.

Diffuse Esophageal Spasm (DES) is a motility disorder of the esophagus, which is the muscular tube that connects the throat to the stomach. In DES, the esophagus involuntarily and uncoordinately contracts, causing difficulty swallowing (dysphagia), chest pain, and sometimes regurgitation of food or liquids.

The term "diffuse" refers to the fact that these spasms can occur throughout the entire length of the esophagus, rather than being localized to a specific area. The exact cause of diffuse esophageal spasm is not known, but it may be associated with abnormalities in the nerve cells that control muscle contractions in the esophagus.

Diagnosis of DES typically involves a combination of medical history, physical examination, and specialized tests such as esophageal manometry or ambulatory 24-hour pH monitoring. Treatment options may include medications to relax the esophageal muscles, lifestyle modifications such as avoiding trigger foods, and in some cases, surgery.

Ergonovine is a medication that belongs to a class of drugs called ergot alkaloids. It is derived from the ergot fungus and is used in medical settings as a uterotonic agent, which means it causes the uterus to contract. Ergonovine is often used after childbirth to help the uterus return to its normal size and reduce bleeding.

Ergonovine works by binding to specific receptors in the smooth muscle of the uterus, causing it to contract. It has a potent effect on the uterus and can also cause vasoconstriction (narrowing of blood vessels) in other parts of the body. This is why ergonovine is sometimes used to treat severe bleeding caused by conditions such as uterine fibroids or ectopic pregnancy.

Like other ergot alkaloids, ergonovine can have serious side effects if not used carefully. It should be administered under the close supervision of a healthcare provider and should not be used in women with certain medical conditions, such as high blood pressure or heart disease. Ergonovine can also interact with other medications, so it's important to inform your healthcare provider of all medications you are taking before receiving this drug.

Angina pectoris, variant (also known as Prinzmetal's angina or vasospastic angina) is a type of chest pain that results from reduced blood flow to the heart muscle due to spasms in the coronary arteries. These spasms cause the arteries to narrow, temporarily reducing the supply of oxygen-rich blood to the heart. This can lead to symptoms such as chest pain, shortness of breath, and fatigue.

Variant angina is typically more severe than other forms of angina and can occur at rest or with minimal physical exertion. It is often treated with medications that help relax the coronary arteries and prevent spasms, such as calcium channel blockers and nitrates. In some cases, additional treatments such as angioplasty or bypass surgery may be necessary to improve blood flow to the heart.

It's important to note that chest pain can have many different causes, so it is essential to seek medical attention if you experience any symptoms of angina or other types of chest pain. A healthcare professional can help determine the cause of your symptoms and develop an appropriate treatment plan.

Facial muscles, also known as facial nerves or cranial nerve VII, are a group of muscles responsible for various expressions and movements of the face. These muscles include:

1. Orbicularis oculi: muscle that closes the eyelid and raises the upper eyelid
2. Corrugator supercilii: muscle that pulls the eyebrows down and inward, forming wrinkles on the forehead
3. Frontalis: muscle that raises the eyebrows and forms horizontal wrinkles on the forehead
4. Procerus: muscle that pulls the medial ends of the eyebrows downward, forming vertical wrinkles between the eyebrows
5. Nasalis: muscle that compresses or dilates the nostrils
6. Depressor septi: muscle that pulls down the tip of the nose
7. Levator labii superioris alaeque nasi: muscle that raises the upper lip and flares the nostrils
8. Levator labii superioris: muscle that raises the upper lip
9. Zygomaticus major: muscle that raises the corner of the mouth, producing a smile
10. Zygomaticus minor: muscle that raises the nasolabial fold and corner of the mouth
11. Risorius: muscle that pulls the angle of the mouth laterally, producing a smile
12. Depressor anguli oris: muscle that pulls down the angle of the mouth
13. Mentalis: muscle that raises the lower lip and forms wrinkles on the chin
14. Buccinator: muscle that retracts the cheek and helps with chewing
15. Platysma: muscle that depresses the corner of the mouth and wrinkles the skin of the neck.

These muscles are innervated by the facial nerve, which arises from the brainstem and exits the skull through the stylomastoid foramen. Damage to the facial nerve can result in facial paralysis or weakness on one or both sides of the face.

Blepharospasm is a medical condition characterized by involuntary spasms and contractions of the muscles around the eyelids. These spasms can cause frequent blinkings, eye closure, and even difficulty in keeping the eyes open. In some cases, the spasms may be severe enough to interfere with vision, daily activities, and quality of life.

The exact cause of blepharospasm is not fully understood, but it is believed to involve abnormal functioning of the basal ganglia, a part of the brain that controls movement. It can occur as an isolated condition (known as essential blepharospasm) or as a symptom of other neurological disorders such as Parkinson's disease or dystonia.

Treatment options for blepharospasm may include medication, botulinum toxin injections, surgery, or a combination of these approaches. The goal of treatment is to reduce the frequency and severity of the spasms, improve symptoms, and enhance the patient's quality of life.

Vigabatrin is an anticonvulsant medication used to treat certain types of seizures in adults and children. It works by reducing the abnormal excitement in the brain. The medical definition of Vigabatrin is: a irreversible inhibitor of GABA transaminase, which results in increased levels of gamma-aminobutyric acid (GABA) in the central nervous system. This medication is used as an adjunctive treatment for complex partial seizures and is available in oral form for administration.

It's important to note that Vigabatrin can cause serious side effects, including permanent vision loss, and its use should be closely monitored by a healthcare professional. It is also classified as a pregnancy category C medication, which means it may harm an unborn baby and should only be used during pregnancy if the potential benefit justifies the potential risk to the fetus.

Facial nerve diseases refer to a group of medical conditions that affect the function of the facial nerve, also known as the seventh cranial nerve. This nerve is responsible for controlling the muscles of facial expression, and it also carries sensory information from the taste buds in the front two-thirds of the tongue, and regulates saliva flow and tear production.

Facial nerve diseases can cause a variety of symptoms, depending on the specific location and extent of the nerve damage. Common symptoms include:

* Facial weakness or paralysis on one or both sides of the face
* Drooping of the eyelid and corner of the mouth
* Difficulty closing the eye or keeping it closed
* Changes in taste sensation or dryness of the mouth and eyes
* Abnormal sensitivity to sound (hyperacusis)
* Twitching or spasms of the facial muscles

Facial nerve diseases can be caused by a variety of factors, including:

* Infections such as Bell's palsy, Ramsay Hunt syndrome, and Lyme disease
* Trauma or injury to the face or skull
* Tumors that compress or invade the facial nerve
* Neurological conditions such as multiple sclerosis or Guillain-Barre syndrome
* Genetic disorders such as Moebius syndrome or hemifacial microsomia

Treatment for facial nerve diseases depends on the underlying cause and severity of the symptoms. In some cases, medication, physical therapy, or surgery may be necessary to restore function and relieve symptoms.

Neuromuscular agents are drugs or substances that affect the function of the neuromuscular junction, which is the site where nerve impulses are transmitted to muscles. These agents can either enhance or inhibit the transmission of signals across the neuromuscular junction, leading to a variety of effects on muscle tone and activity.

Neuromuscular blocking agents (NMBAs) are a type of neuromuscular agent that is commonly used in anesthesia and critical care settings to induce paralysis during intubation or mechanical ventilation. NMBAs can be classified into two main categories: depolarizing and non-depolarizing agents.

Depolarizing NMBAs, such as succinylcholine, work by activating the nicotinic acetylcholine receptors at the neuromuscular junction, causing muscle contraction followed by paralysis. Non-depolarizing NMBAs, such as rocuronium and vecuronium, block the activation of these receptors, preventing muscle contraction and leading to paralysis.

Other types of neuromuscular agents include cholinesterase inhibitors, which increase the levels of acetylcholine at the neuromuscular junction and can be used to reverse the effects of NMBAs, and botulinum toxin, which is a potent neurotoxin that inhibits the release of acetylcholine from nerve terminals and is used in the treatment of various neurological disorders.

Muscle spasticity is a motor disorder characterized by an involuntary increase in muscle tone, leading to stiffness and difficulty in moving muscles. It is often seen in people with damage to the brain or spinal cord, such as those with cerebral palsy, multiple sclerosis, or spinal cord injuries.

In muscle spasticity, the muscles may contract excessively, causing rigid limbs, awkward movements, and abnormal postures. The severity of muscle spasticity can vary from mild stiffness to severe contractures that limit mobility and function.

Muscle spasticity is caused by an imbalance between excitatory and inhibitory signals in the central nervous system, leading to overactivity of the alpha motor neurons that control muscle contraction. This can result in hyperreflexia (overactive reflexes), clonus (rapid, rhythmic muscle contractions), and flexor or extensor spasms.

Effective management of muscle spasticity may involve a combination of physical therapy, medication, surgery, or other interventions to improve function, reduce pain, and prevent complications such as contractures and pressure sores.

The facial nerve, also known as the seventh cranial nerve (CN VII), is a mixed nerve that carries both sensory and motor fibers. Its functions include controlling the muscles involved in facial expressions, taste sensation from the anterior two-thirds of the tongue, and secretomotor function to the lacrimal and salivary glands.

The facial nerve originates from the brainstem and exits the skull through the internal acoustic meatus. It then passes through the facial canal in the temporal bone before branching out to innervate various structures of the face. The main branches of the facial nerve include:

1. Temporal branch: Innervates the frontalis, corrugator supercilii, and orbicularis oculi muscles responsible for eyebrow movements and eyelid closure.
2. Zygomatic branch: Supplies the muscles that elevate the upper lip and wrinkle the nose.
3. Buccal branch: Innervates the muscles of the cheek and lips, allowing for facial expressions such as smiling and puckering.
4. Mandibular branch: Controls the muscles responsible for lower lip movement and depressing the angle of the mouth.
5. Cervical branch: Innervates the platysma muscle in the neck, which helps to depress the lower jaw and wrinkle the skin of the neck.

Damage to the facial nerve can result in various symptoms, such as facial weakness or paralysis, loss of taste sensation, and dry eyes or mouth due to impaired secretion.

Stiff-Person Syndrome (SPS) is a rare neurological disorder characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as touch, sound, and emotional distress, which can trigger muscle spasms. The symptoms can significantly affect a person's ability to perform daily activities and can lead to frequent falls and injuries. SPS is often associated with antibodies against glutamic acid decarboxylase (GAD), an enzyme involved in the production of a neurotransmitter called gamma-aminobutyric acid (GABA) that helps regulate muscle movement. The exact cause of SPS remains unknown, but it is thought to involve both autoimmune and genetic factors.

Angina pectoris is a medical term that describes chest pain or discomfort caused by an inadequate supply of oxygen-rich blood to the heart muscle. This condition often occurs due to coronary artery disease, where the coronary arteries become narrowed or blocked by the buildup of cholesterol, fatty deposits, and other substances, known as plaques. These blockages can reduce blood flow to the heart, causing ischemia (lack of oxygen) and leading to angina symptoms.

There are two primary types of angina: stable and unstable. Stable angina is predictable and usually occurs during physical exertion or emotional stress when the heart needs more oxygen-rich blood. The pain typically subsides with rest or after taking prescribed nitroglycerin medication, which helps widen the blood vessels and improve blood flow to the heart.

Unstable angina, on the other hand, is more severe and unpredictable. It can occur at rest, during sleep, or with minimal physical activity and may not be relieved by rest or nitroglycerin. Unstable angina is considered a medical emergency, as it could indicate an imminent heart attack.

Symptoms of angina pectoris include chest pain, pressure, tightness, or heaviness that typically radiates to the left arm, neck, jaw, or back. Shortness of breath, nausea, sweating, and fatigue may also accompany angina symptoms. Immediate medical attention is necessary if you experience chest pain or discomfort, especially if it's new, severe, or persistent, as it could be a sign of a more serious condition like a heart attack.

Coronary angiography is a medical procedure that uses X-ray imaging to visualize the coronary arteries, which supply blood to the heart muscle. During the procedure, a thin, flexible catheter is inserted into an artery in the arm or groin and threaded through the blood vessels to the heart. A contrast dye is then injected through the catheter, and X-ray images are taken as the dye flows through the coronary arteries. These images can help doctors diagnose and treat various heart conditions, such as blockages or narrowing of the arteries, that can lead to chest pain or heart attacks. It is also known as coronary arteriography or cardiac catheterization.

Botulinum toxins type A are neurotoxins produced by the bacterium Clostridium botulinum and related species. These toxins act by blocking the release of acetylcholine at the neuromuscular junction, leading to muscle paralysis. Botulinum toxin type A is used in medical treatments for various conditions characterized by muscle spasticity or excessive muscle activity, such as cervical dystonia, blepharospasm, strabismus, and chronic migraine. It is also used cosmetically to reduce the appearance of wrinkles by temporarily paralyzing the muscles that cause them. The commercial forms of botulinum toxin type A include Botox, Dysport, and Xeomin.

Oxytocics are a class of medications that stimulate the contraction of uterine smooth muscle. They are primarily used in obstetrics to induce or augment labor, and to control bleeding after childbirth. Oxytocin is the most commonly used oxytocic and is naturally produced by the posterior pituitary gland. Synthetic forms of oxytocin, such as Pitocin, are often used in medical settings to induce labor or reduce postpartum bleeding. Other medications with oxytocic properties include ergometrine and methylergometrine. It's important to note that the use of oxytocics should be monitored carefully as overuse can lead to excessive uterine contractions, which may compromise fetal oxygenation and increase the risk of uterine rupture.

The cerebellopontine angle (CPA) is a narrow space located at the junction of the brainstem and the cerebellum, where the pons and cerebellum meet. This region is filled with several important nerves, blood vessels, and membranous coverings called meninges. The CPA is a common site for various neurological disorders because it contains critical structures such as:

1. Cerebellum: A part of the brain responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
2. Pons: A portion of the brainstem that plays a role in several vital functions, including facial movements, taste sensation, sleep regulation, and respiration.
3. Cranial nerves: The CPA is home to the following cranial nerves:
* Vestibulocochlear nerve (CN VIII): This nerve has two components - cochlear and vestibular. The cochlear part is responsible for hearing, while the vestibular part contributes to balance and eye movement.
* Facial nerve (CN VII): This nerve controls facial expressions, taste sensation in the anterior two-thirds of the tongue, salivary gland function, and lacrimation (tear production).
4. Blood vessels: The CPA contains critical blood vessels like the anterior inferior cerebellar artery (AICA), which supplies blood to various parts of the brainstem, cerebellum, and cranial nerves.
5. Meninges: These are protective membranes surrounding the brain and spinal cord. In the CPA, the meninges include the dura mater, arachnoid mater, and pia mater.

Disorders that can affect the structures in the cerebellopontine angle include acoustic neuromas (vestibular schwannomas), meningiomas, epidermoids, and arteriovenous malformations. These conditions may cause symptoms such as hearing loss, tinnitus (ringing in the ears), vertigo (dizziness), facial weakness or numbness, difficulty swallowing, and imbalance.

Acetylcholine is a neurotransmitter, a type of chemical messenger that transmits signals across a chemical synapse from one neuron (nerve cell) to another "target" neuron, muscle cell, or gland cell. It is involved in both peripheral and central nervous system functions.

In the peripheral nervous system, acetylcholine acts as a neurotransmitter at the neuromuscular junction, where it transmits signals from motor neurons to activate muscles. Acetylcholine also acts as a neurotransmitter in the autonomic nervous system, where it is involved in both the sympathetic and parasympathetic systems.

In the central nervous system, acetylcholine plays a role in learning, memory, attention, and arousal. Disruptions in cholinergic neurotransmission have been implicated in several neurological disorders, including Alzheimer's disease, Parkinson's disease, and myasthenia gravis.

Acetylcholine is synthesized from choline and acetyl-CoA by the enzyme choline acetyltransferase and is stored in vesicles at the presynaptic terminal of the neuron. When a nerve impulse arrives, the vesicles fuse with the presynaptic membrane, releasing acetylcholine into the synapse. The acetylcholine then binds to receptors on the postsynaptic membrane, triggering a response in the target cell. Acetylcholine is subsequently degraded by the enzyme acetylcholinesterase, which terminates its action and allows for signal transduction to be repeated.

Nerve compression syndromes refer to a group of conditions characterized by the pressure or irritation of a peripheral nerve, causing various symptoms such as pain, numbness, tingling, and weakness in the affected area. This compression can occur due to several reasons, including injury, repetitive motion, bone spurs, tumors, or swelling. Common examples of nerve compression syndromes include carpal tunnel syndrome, cubital tunnel syndrome, radial nerve compression, and ulnar nerve entrapment at the wrist or elbow. Treatment options may include physical therapy, splinting, medications, injections, or surgery, depending on the severity and underlying cause of the condition.

Microvascular decompression surgery (MVD) is a surgical procedure used to alleviate the symptoms of certain neurological conditions, such as trigeminal neuralgia and hemifacial spasm. The primary goal of MVD is to relieve pressure on the affected cranial nerve by placing a small pad or sponge between the nerve and the blood vessel that is causing compression. This procedure is typically performed under a microscope, hence the term "microvascular."

During the surgery, the neurosurgeon makes an incision behind the ear and creates a small opening in the skull (a craniotomy) to access the brain. The surgeon then identifies the affected nerve and the blood vessel that is compressing it. Using specialized instruments under the microscope, the surgeon carefully separates the blood vessel from the nerve and places a tiny pad or sponge between them to prevent further compression.

The benefits of MVD include its high success rate in relieving symptoms, minimal impact on surrounding brain tissue, and lower risk of complications compared to other surgical options for treating these conditions. However, as with any surgery, there are potential risks and complications associated with MVD, including infection, bleeding, cerebrospinal fluid leakage, facial numbness, hearing loss, balance problems, and very rarely, stroke or death.

It is essential to consult a qualified neurosurgeon for a thorough evaluation and discussion of the risks and benefits of microvascular decompression surgery before making a treatment decision.

Anticonvulsants are a class of drugs used primarily to treat seizure disorders, also known as epilepsy. These medications work by reducing the abnormal electrical activity in the brain that leads to seizures. In addition to their use in treating epilepsy, anticonvulsants are sometimes also prescribed for other conditions, such as neuropathic pain, bipolar disorder, and migraine headaches.

Anticonvulsants can work in different ways to reduce seizure activity. Some medications, such as phenytoin and carbamazepine, work by blocking sodium channels in the brain, which helps to stabilize nerve cell membranes and prevent excessive electrical activity. Other medications, such as valproic acid and gabapentin, increase the levels of a neurotransmitter called gamma-aminobutyric acid (GABA) in the brain, which has a calming effect on nerve cells and helps to reduce seizure activity.

While anticonvulsants are generally effective at reducing seizure frequency and severity, they can also have side effects, such as dizziness, drowsiness, and gastrointestinal symptoms. In some cases, these side effects may be managed by adjusting the dosage or switching to a different medication. It is important for individuals taking anticonvulsants to work closely with their healthcare provider to monitor their response to the medication and make any necessary adjustments.

Nitroglycerin, also known as glyceryl trinitrate, is a medication used primarily for the treatment of angina pectoris (chest pain due to coronary artery disease) and hypertensive emergencies (severe high blood pressure). It belongs to a class of drugs called nitrates or organic nitrites.

Nitroglycerin works by relaxing and dilating the smooth muscle in blood vessels, which leads to decreased workload on the heart and increased oxygen delivery to the myocardium (heart muscle). This results in reduced symptoms of angina and improved cardiac function during hypertensive emergencies.

The drug is available in various forms, including sublingual tablets, sprays, transdermal patches, ointments, and intravenous solutions. The choice of formulation depends on the specific clinical situation and patient needs. Common side effects of nitroglycerin include headache, dizziness, and hypotension (low blood pressure).

Trigeminal neuralgia is a chronic pain condition that affects the trigeminal nerve, which is one of the largest nerves in the head. It carries sensations from the face to the brain.

Medically, trigeminal neuralgia is defined as a neuropathic disorder characterized by episodes of intense, stabbing, electric shock-like pain in the areas of the face supplied by the trigeminal nerve (the ophthalmic, maxillary, and mandibular divisions). The pain can be triggered by simple activities such as talking, eating, brushing teeth, or even touching the face lightly.

The condition is more common in women over 50, but it can occur at any age and in either gender. While the exact cause of trigeminal neuralgia is not always known, it can sometimes be related to pressure on the trigeminal nerve from a nearby blood vessel or other causes such as multiple sclerosis. Treatment typically involves medications, surgery, or a combination of both.

Coronary vessels refer to the network of blood vessels that supply oxygenated blood and nutrients to the heart muscle, also known as the myocardium. The two main coronary arteries are the left main coronary artery and the right coronary artery.

The left main coronary artery branches off into the left anterior descending artery (LAD) and the left circumflex artery (LCx). The LAD supplies blood to the front of the heart, while the LCx supplies blood to the side and back of the heart.

The right coronary artery supplies blood to the right lower part of the heart, including the right atrium and ventricle, as well as the back of the heart.

Coronary vessel disease (CVD) occurs when these vessels become narrowed or blocked due to the buildup of plaque, leading to reduced blood flow to the heart muscle. This can result in chest pain, shortness of breath, or a heart attack.

Manometry is a medical test that measures pressure inside various parts of the gastrointestinal tract. It is often used to help diagnose digestive disorders such as achalasia, gastroparesis, and irritable bowel syndrome. During the test, a thin, flexible tube called a manometer is inserted through the mouth or rectum and into the area being tested. The tube is connected to a machine that measures and records pressure readings. These readings can help doctors identify any abnormalities in muscle function or nerve reflexes within the digestive tract.

Vasodilator agents are pharmacological substances that cause the relaxation or widening of blood vessels by relaxing the smooth muscle in the vessel walls. This results in an increase in the diameter of the blood vessels, which decreases vascular resistance and ultimately reduces blood pressure. Vasodilators can be further classified based on their site of action:

1. Systemic vasodilators: These agents cause a generalized relaxation of the smooth muscle in the walls of both arteries and veins, resulting in a decrease in peripheral vascular resistance and preload (the volume of blood returning to the heart). Examples include nitroglycerin, hydralazine, and calcium channel blockers.
2. Arterial vasodilators: These agents primarily affect the smooth muscle in arterial vessel walls, leading to a reduction in afterload (the pressure against which the heart pumps blood). Examples include angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and direct vasodilators like sodium nitroprusside.
3. Venous vasodilators: These agents primarily affect the smooth muscle in venous vessel walls, increasing venous capacitance and reducing preload. Examples include nitroglycerin and other organic nitrates.

Vasodilator agents are used to treat various cardiovascular conditions such as hypertension, heart failure, angina, and pulmonary arterial hypertension. It is essential to monitor their use carefully, as excessive vasodilation can lead to orthostatic hypotension, reflex tachycardia, or fluid retention.

Adrenocorticotropic Hormone (ACTH) is a hormone produced and released by the anterior pituitary gland, a small endocrine gland located at the base of the brain. ACTH plays a crucial role in the regulation of the body's stress response and has significant effects on various physiological processes.

The primary function of ACTH is to stimulate the adrenal glands, which are triangular-shaped glands situated on top of the kidneys. The adrenal glands consist of two parts: the outer cortex and the inner medulla. ACTH specifically targets the adrenal cortex, where it binds to specific receptors and initiates a series of biochemical reactions leading to the production and release of steroid hormones, primarily cortisol (a glucocorticoid) and aldosterone (a mineralocorticoid).

Cortisol is involved in various metabolic processes, such as regulating blood sugar levels, modulating the immune response, and helping the body respond to stress. Aldosterone plays a vital role in maintaining electrolyte and fluid balance by promoting sodium reabsorption and potassium excretion in the kidneys.

ACTH release is controlled by the hypothalamus, another part of the brain, which produces corticotropin-releasing hormone (CRH). CRH stimulates the anterior pituitary gland to secrete ACTH, which in turn triggers cortisol production in the adrenal glands. This complex feedback system helps maintain homeostasis and ensures that appropriate amounts of cortisol are released in response to various physiological and psychological stressors.

Disorders related to ACTH can lead to hormonal imbalances, resulting in conditions such as Cushing's syndrome (excessive cortisol production) or Addison's disease (insufficient cortisol production). Proper diagnosis and management of these disorders typically involve assessing the function of the hypothalamic-pituitary-adrenal axis and addressing any underlying issues affecting ACTH secretion.

Epilepsy is a chronic neurological disorder characterized by recurrent, unprovoked seizures. These seizures are caused by abnormal electrical activity in the brain, which can result in a wide range of symptoms, including convulsions, loss of consciousness, and altered sensations or behaviors. Epilepsy can have many different causes, including genetic factors, brain injury, infection, or stroke. In some cases, the cause may be unknown.

There are many different types of seizures that can occur in people with epilepsy, and the specific type of seizure will depend on the location and extent of the abnormal electrical activity in the brain. Some people may experience only one type of seizure, while others may have several different types. Seizures can vary in frequency, from a few per year to dozens or even hundreds per day.

Epilepsy is typically diagnosed based on the patient's history of recurrent seizures and the results of an electroencephalogram (EEG), which measures the electrical activity in the brain. Imaging tests such as MRI or CT scans may also be used to help identify any structural abnormalities in the brain that may be contributing to the seizures.

While there is no cure for epilepsy, it can often be effectively managed with medication. In some cases, surgery may be recommended to remove the area of the brain responsible for the seizures. With proper treatment and management, many people with epilepsy are able to lead normal, productive lives.

An eponym is a name derived from a person, usually the person who first described a medical condition or invention. In medicine, eponyms are often used to describe specific signs, symptoms, conditions, or diagnostic tests. For example, Alzheimer's disease is named after Alois Alzheimer, who first described the condition in 1906. Similarly, Parkinson's disease is named after James Parkinson, who first described it in 1817.

Eponyms can be helpful in medical communication because they provide a quick and easy way to refer to specific medical concepts. However, they can also be confusing or misleading, especially when the eponym's origin is not well-known or when different eponyms are used for the same concept. Therefore, it is essential to use eponyms appropriately and understand their underlying medical concepts.

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.

"Orphanet: Infantile spasms broad thumbs syndrome". www.orpha.net. Retrieved 2022-05-31. "Infantile spasms-broad thumbs syndrome ... Infantile spasms-broad thumbs syndrome, also known as Tsao Ellingson syndrome, is a very rare and deadly hereditary disorder ... "Infantile spasms broad thumbs - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. ... "Infantile spasms broad thumbs". NORD (National Organization for Rare Disorders). Retrieved 2022-05-31. "OpenCodelists". www. ...
1984 The cluster of infantile spasms in TSC was discovered to be preceded by a focal EEG discharge. 1985 Magnetic resonance ... 1990 Vigabatrin was found to be a highly effective antiepileptic treatment for infantile spasms, particularly in children with ... Pampiglione G, Pugh E (November 1975). "Letter: Infantile spasms and subsequent appearance of tuberous sclerosis syndrome". ... "Vigabatrin in infantile spasms". Lancet. 335 (8685): 363-4. doi:10.1016/0140-6736(90)90660-W. PMID 1967808. S2CID 30019639. ...
West syndrome in modern usage is the triad of infantile spasms, a pathognomonic EEG pattern (called hypsarrhythmia), and ... ", "infantile myoclonic encephalopathy", "jackknife convulsions", "massive myoclonia" and "Salaam spasms". The term "infantile ... the spasms appear for the first time between the third and the twelfth month of age. In rarer cases, spasms may occur in the ... collectively known as infantile spasms. Typically, the following triad of attack types appears; while the three types usually ...
... which focused on infantile spasms. The methods of this meeting were published in the book L'encéphalopathie Myoclonique ... Gastaut suggested the use of West syndrome as an eponym for infantile spasms; which is widely used for the syndrome to date. ... the first article referred to an ovariectomy performed in England and first described the picture of a kind of infantile spasm ... Gastaut H, Roger J, Soulayrol R, Pinsard N (1964). "L'encéphalopathie myoclonique infantile avec hypsarythmie (syndrome de West ...
"Infantile spasm syndrome, X-linked". Archived from the original on 2011-02-27. Retrieved 2010-06-05. Kalscheuer VM, Tao J, ... At one time, mutations in the CDKL5 gene were thought to cause a disorder called X-linked infantile spasm syndrome (ISSX), or ... "Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation". (primary). ... Wong VC, Kwong AK (April 2015). "CDKL5 variant in a boy with infantile epileptic encephalopathy: case report". Brain & ...
In uncontrolled studies, nitrazepam has shown effectiveness in infantile spasms and is sometimes considered when other anti- ... Tsao CY (May 20, 2009). "Current trends in the treatment of infantile spasms". Neuropsychiatric Disease and Treatment. 5: 289- ...
Approximately, one-third of patients have infantile spasms. There are several types of brain lesions that can be found in TSC ...
... medications for infantile spasms include ACTH, prednisolone, and vigabatrin for infantile spasms. Clinical trials support the ... "Infantile Spasm (West Syndrome) Treatment & Management". Retrieved 22 June 2021. d'Andrea Meira, I.; Romão, T. T.; Pires Do ... Patients usually present first with seizures within the first months of life, followed by infantile spasms which progress to ... The symptoms of CDD include early infantile onset refractory epilepsy; hypotonia; developmental, intellectual, and motor ...
DQ6.2 is also protective against infantile spasms in mestizos. DQ6.3 (DQA1*0103 : DQB1*0603) is found in northcentral Europe at ... "Contribution of the MHC class II antigens to the etiology of infantile spasm in Mexican Mestizos". Epilepsia. 42 (2): 210-215. ...
"D-bifunctional protein deficiency associated with drug resistant infantile spasms". Brain Dev. 29 (1): 51-4. doi:10.1016/j. ...
Siemes H, Spohr HL, Michael T, Nau H (September-October 1988). "Therapy of infantile spasms with valproate: results of a ... absence seizures and myoclonic seizures and as a second-line treatment for partial seizures and infantile spasms. It has also ... Treadwell JR, Wu M, Tsou AY (October 2022). Management of Infantile Epilepsies. effectivehealthcare.ahrq.gov (Report). ...
Infantile spasms are common in affected children, as is intractable epilepsy.[citation needed] The term 'pachygyria' does not ... persisting spasms focal seizures tonic seizures atypical seizures atonic seizures Other possible symptoms of lissencephaly ...
... but it has been found to be ineffective in the control of infantile spasms. Clonazepam is mainly prescribed for the acute ... "Double-blind study of ACTH vs prednisone therapy in infantile spasms". The Journal of Pediatrics. 103 (4): 641-645. doi:10.1016 ... "Clonazepam: medicine to control seizures or fits, muscle spasms and restless legs syndrome". nhs.uk. 6 January 2020. Retrieved ... It is also approved for treatment of typical and atypical absences (seizures), infantile myoclonic, myoclonic, and akinetic ...
Early symptoms include infantile spasms, hyparrhythmia, and seizures, and optic atrophy. Other features include arrest of ...
Sundaram SK, Chugani HT, Tiwari VN, Huq AH (July 2013). "SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal ... Mutations in this gene have been implicated in cases of autism, infantile spasms, bitemporal glucose hypometabolism, and ... 2001). "Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic ... 2002). "Sodium-channel defects in benign familial neonatal-infantile seizures". Lancet. 360 (9336): 851-2. doi:10.1016/S0140- ...
wind fright, jingfeng); epilepsy (dianxian) and spasms; sore throat; distention and feeling of fullness (zhangman) in the chest ... The Taichong point was indicated for acute and chronic infantile convulsions (lit. ...
The drug treatment given for infantile spasms and other types of epilepsy is also given to girls with Aicardi syndrome. ... The investigation includes EEG (electroencephalogram), which in case of infantile spasms shows a characteristic pattern ( ... often of the infantile spasm type caused by changes in the brain's gray matter, the cerebral cortex. The seizures occur either ... Suspicion of infantile spasms or other epileptic seizures during the first months of life should always be urgently ...
It costs about $40,000 and is mainly used to treat infantile spasms. Somehow, though, the drug has become one of the biggest ... an injectable biopharmaceutical used for the treatment of infantile spasms, acute exacerbations of multiple sclerosis, and ...
"Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network". Annals of Neurology. 89 (4): 726-739. doi: ...
On 15 December, he showed sudden unprovoked movements compatible with infantile/epileptic spasms. An EEG performed on 16 ...
This includes an increased risk of a specific type of seizure called infantile spasms. Many (15%) who live 40 years or longer ...
December 2004). "Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation". ...
Infantile spasms are best treated with vigabatrin and adrenocorticotropic hormone used as a second-line therapy. Other seizure ... In infancy, epilepsy, particularly infantile spasms, or developmental delay may lead to neurological tests. The white patches ...
His reply: infantile paralysis, no known treatment, "do the best you can with the symptoms..." Elizabeth treats "spasming" ... She assumes that she has done the usual thing in treating polio and is horrified to learn that infantile paralysis is a deadly ...
The boy presented with perinatal distress followed by developmental delay, hypotonia, seizures, and infantile spasms without ... "Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation". Journal of Child ...
Infantile/epileptic spasms appears to be a prevalent seizure type within individuals suffering from MICPCH. It appears that ... females are more likely to have late onset epileptic spasms whilst males are prone to early onset spasms (infantile spasms). ... "Late-onset epileptic spasms in a female patient with a CASK mutation". Brain & Development. 37 (9): 919-923. doi:10.1016/j. ...
Sometimes LGS is observed after infantile epileptic spasm syndrome (formerly called West syndrome). The prognosis for LGS is ... An estimated 30% of patients with infantile epileptic spasm syndrome (formerly called West syndrome) have been reported to ... of a study cohort of 165 patients with LGS and infantile spasms using whole exome sequencing. A 2013 study found a high ...
When Caitlin was only four months old, was diagnosed with infantile spasms, a form of epilepsy. One month later an MRI revealed ...
In most cases of infantile spasms, hypsarrhythmia either disappears or improves during a cluster of spasms and/or REM sleep. ... Together with developmental regression and infantile spasms, hypsarrhythmia is one of the diagnostic criteria for West syndrome ... and frequently encountered in infants diagnosed with infantile spasms, although it can be found in other conditions such as ... When the episodes of voltage attenuation appear at the same time as an epileptic spasm does, they are called electrodecrements ...
... clusters of infantile spasms, and, rarely, myoclonic seizures. In addition to seizures, children with OS exhibit profound ... Tonic seizures and spasms Muscle stiffness Dilated pupils Diplegia Hemiplegia Tetraplegia Ataxia Dystonia No single cause of OS ... 1976). "特異な年齢依存性てんかん性脳症the early-infantile epileptic encephalopathy with suppression-burstに関する研究" [On the specific age ... The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months
"Orphanet: Infantile spasms broad thumbs syndrome". www.orpha.net. Retrieved 2022-05-31. "Infantile spasms-broad thumbs syndrome ... Infantile spasms-broad thumbs syndrome, also known as Tsao Ellingson syndrome, is a very rare and deadly hereditary disorder ... "Infantile spasms broad thumbs - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. ... "Infantile spasms broad thumbs". NORD (National Organization for Rare Disorders). Retrieved 2022-05-31. "OpenCodelists". www. ...
West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram (EEG ... encoded search term (Infantile Spasm (West Syndrome)) and Infantile Spasm (West Syndrome) What to Read Next on Medscape ... 7, 8] Infants with idiopathic infantile spasms have a better prognosis than do infants with symptomatic infantile spasms. Only ... and most patients with infantile spasms have some degree of developmental delay. The term infantile spasm has been used to ...
... provides information for parents about infantile spasms, which are little seizures with big consequences on developing brains. ... Infantile spasms...It sounds so innocuous right? Like a shiver or a small jerk-if only. The truth is that infantile spasms is ... What are infantile spasms?. Infantile spasms, first described with a group of symptoms known as West syndrome, is a form of ... Causes of infantile spasms. There are many causes of infantile spasms; almost any brain abnormality or brain injury can cause ...
Infantile Spasms, also known as Wests Syndrome, happen in infants normally after 3 months of age and consist of a series of ... How is Infantile Spasm (Wests Syndrome) treated?. If your child is diagnosed with infantile spasm, it is important to begin ... What is Infantile Spasm (Wests Syndrome)?. Infantile spasm, sometimes known as West Syndrome, is a very rare form of childhood ... How is Infantile Spasm (Wests Syndrome) diagnosed?. To diagnose infantile spasm, your physician will do a detailed physical ...
Infantile Spasms (IS) are a type of epilepsy. They may also be called Epileptic Spasms or West Syndrome. An Infantile Spasm is ... What causes Infantile Spasms?. Some babies get IS because of the way their brain has formed, or an infection or injury early in ... What is it like for siblings who have a brother or sister with Infantile Spasms?. Lots of siblings have really good ... This has been read and approved for publication by the UK Infantile Spasms Trust in July 2022 and will be reviewed and updated ...
West syndrome is defined by the presence of infantile spasms, developmental regression, and a highly irregular pattern of brain ... Causes of infantile spasms. Infantile spasms syndrome can be caused by a number of conditions. Sometimes infantile spasms are ... Infantile spasms syndrome treatment. The primary goal of treatment for infantile spasms syndrome is to eliminate the spasms and ... What are infantile spasms?. Infantile spasms are a specific type of seizure that begin in the first one to two years of life. ...
... Am J Hum Genet. 2004 ...
Infantile Spasms and West Syndrome. West syndrome is a triad of infantile spasms, developmental retardation or regression, and ... Note the electrodecremental response that is associated with a spasm in infantile spasms (ie, West syndrome). View Media ... Note the electrodecremental response that is associated with a spasm in infantile spasms (ie, West syndrome). ... Infantile spasms and West syndrome frequently transform into Lennox-Gastaut syndrome. However, unlike West syndrome, Lennox- ...
... An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood ... Infants may have dozens of clusters and several hundred spasms per day. Infantile spasms usually stop by age five, but may be ... Food and Drug Administration to treat infantile spasms in children ages one month to two years. Some children have spasms as ... Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. ...
... confirmed infantile spasms and at least one sibling. Among the siblings, 1 (.3%) had infantile spasms, 5 (2%) had another form ... "While about half of the children who had infantile spasms in our study also had ASD, very few of their siblings had any form of ... Infantile spasms cause disorganized chaotic brainwaves called hypsarrhythmia, a type of seizure unlike those in other forms of ... "This was an exploratory study, and it may be that children with infantile spasms may just have a special type of autism," said ...
Infantile Spasms - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer Version. ... Symptoms of Infantile Spasms Spasms usually consist of a sudden jerk (spasm) of the trunk and limbs that looks very much like ... Causes of Infantile Spasms Usually, infantile spasms occur in infants who have a serious brain disorder or developmental ... Infantile spasms are a type of seizure Seizures in Children Seizures are a periodic disturbance of the brains electrical ...
West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram (EEG ... encoded search term (Infantile Spasm (West Syndrome)) and Infantile Spasm (West Syndrome) What to Read Next on Medscape ... 7, 8] Infants with idiopathic infantile spasms have a better prognosis than do infants with symptomatic infantile spasms. Only ... and most patients with infantile spasms have some degree of developmental delay. The term infantile spasm has been used to ...
Treatment of Infantile Spasms. The use of smartphone video to capture infantile spasms (IS) significantly reduces the time to ... Analysis in Infantile Spasms Purpose: To evaluate initial magnetic resonance imaging (MRI) abnormalities in infantile spasms, ... Conclusion: In structural infantile spasms, developmental/acquired subgroups showed differences in pattern of MRI abnormalities ... Results: MRIs were abnormal in 52 of 71 infantile spasm patients (23 developmental, 23 acquired, and 6 nonspecific) with no ...
Infantile Spasms - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... Causes of Infantile Spasms Usually, infantile spasms occur in infants with serious brain disorders and developmental ... Symptoms and Signs of Infantile Spasms Spasms begin with a sudden, rapid, tonic contraction of the trunk and limbs, sometimes ... Infantile spasms can be treated with adrenocorticotropic hormone (ACTH), vigabatrin (the drug of choice for spasms caused by ...
Even Infantile Spasms constitute the commonest devastating infantile epilepsy worldwide, there is a wide variability in their ... Course DescriptionThis symposium will deal with an important epileptic encephalopathy ie Infantile Spams. ... Even Infantile Spasms constitute the commonest devastating infantile epilepsy worldwide, there is a wide variability in their ... Evaluation of Infantile Spasms - Role of Genetics; Approach to a Child with IS in Japan Shinichi Hirose, MD, PhD; Fukuoka ...
... for Infantile Spasms (GWPCARE7) A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms Phase 3 Trial of ... Molecular Genetics in Infantile Spasms Genetic Studies in Patients and Families With Infantile Spasms Use of the Modified ... Prednisolone in Infantile Spasms- High Dose Versus Usual Dose Addition of Pyridoxine to Prednisolone in Infantile Spasms ... A Novel Approach to Infantile Spasms Intravenous Methylprednisolone Versus Oral Prednisolone for Infantile Spasms ...
... for Infantile Spasms (GWPCARE7) A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms Phase 3 Trial of ... Molecular Genetics in Infantile Spasms Genetic Studies in Patients and Families With Infantile Spasms Use of the Modified ... Prednisolone in Infantile Spasms- High Dose Versus Usual Dose Addition of Pyridoxine to Prednisolone in Infantile Spasms ... A Novel Approach to Infantile Spasms Intravenous Methylprednisolone Versus Oral Prednisolone for Infantile Spasms ...
Infantile spasms (Wests Syndrome) is a syndrome that includes a peculiar type of epileptic seizure-the spasms-and an ... Treatment of infantile spasms. Overview of attention for article published in Cochrane database of systematic reviews, June ... but still little is known about the pathophysiological basis for infantile spasms, and treatment remains problematic. ...
Infantile Spasms (IS). VIGADRONE is indicated as monotherapy for pediatric patients with infantile spasms 1 month to 2 years of ... Infantile Spasms. The effectiveness of vigabatrin as monotherapy was established for infantile spasms in two multicenter ... Magnetic resonance imaging (MRI) changes inbabies with infantile spasms:. *Risk of suicidal thoughts or actions: Like other ... Infantile Spasms. The initial daily dosing is 50 mg/kg/day given in two divided doses (25 mg/kg twice daily); subsequent dosing ...
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Infantile spasm syndrome (ISs), or more commonly West syndrome, is a rare epileptic disorder that appears during the early ... What are infantile spasms?. Infantile spasm syndrome (ISs), or more commonly West syndrome, is a rare epileptic. disorder that ... spasms, hypsarrhythmia, and developmental delay/regression. Infantile spasms usually begin. around 4-9 months of age with the ... function and infantile spasms are also linked to lissencephaly, a condition where the brain. appears to be smooth and lacks the ...
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Spasms typically occur in clusters with events every 5-10 seconds over a 5-10 minute period. ... An epileptic spasm consists of brief (1-3 second) events of arm, leg and head flexion (arms and legs pull into the body) or ... How Are Epileptic Or Infantile Spasms Treated?. *Infantile spasms should be rapidly identified and treated with specific ... How Are Epileptic Spasms Diagnosed?. *If you think that someone is having epileptic or infantile spasms, it can be very helpful ...
At the end of this session, learners will be able to locate infantile spasms (IS) in the revised ILAE epilepsy classification, ...
West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram (EEG ... encoded search term (Infantile Spasm (West Syndrome)) and Infantile Spasm (West Syndrome) What to Read Next on Medscape ... and most patients with infantile spasms have some degree of developmental delay. The term infantile spasm has been used to ... no significant gender difference is noted in infantile spasm. Ninety percent of infantile spasms begin in infants younger than ...
... at the University of Alabama at Birmingham Epilepsy Center sat down to discuss a multitude of topics surrounding Infantile ... Children with infantile spasms suffer from seizures that typically begin between 3 and 8 months of age and occur most commonly ... What are some of the challenges that children with infantile spasms face?. First, it can start very young-even as early as the ... How are infantile spasms treated? Are steroid therapies or treatment with vigabatrin strong enough treatments?. We have had ...
A doctor will make a prognosis if he observes your baby having a spasm after which data mind exercise. Infantile spasms can ... The signs and signs of infantile spasms can begin later in childhood. Untreated or delayed remedy of spasms can lead to ... West syndrome is a subgroup of spasms. There are children who produce other causes of infantile spasms who havent any ... The greatest course of therapy for kids with infantile spasms is to see a toddlers ecstasy specialist. Our fierce warrior ...
West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram (EEG ... encoded search term (Infantile Spasm (West Syndrome)) and Infantile Spasm (West Syndrome) What to Read Next on Medscape ... The intensity of spasms may vary from a subtle head nodding to a powerful contraction of the body. Infantile spasms usually ... Infantile Spasm (West Syndrome) Clinical Presentation. Updated: Oct 16, 2014 * Author: Tracy A Glauser, MD; Chief Editor: Amy ...
... E. Scala;F. Ariani;F. Mari;R. Caselli;C. Pescucci;I. ... In this variant, the normal perinatal period is soon followed by the appearance of seizures, usually infantile spasms. We have ... In this variant, the normal perinatal period is soon followed by the appearance of seizures, usually infantile spasms. We have ... The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation). ...
  • She had battled and overcome hypsarrhythmia and infantile spasms three times in her short life. (healthychildren.org)
  • West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram ( EEG ) pattern termed hypsarrhythmia, and mental retardation. (medscape.com)
  • Infantile spasms can be associated with a developmental regression (a loss of developmental milestones) and a highly irregular pattern of brain electrical activity, called hypsarrhythmia. (chop.edu)
  • When all three features - spasms, developmental regression and hypsarrhythmia - are seen together, this is referred to as infantile spasms syndrome. (chop.edu)
  • Spasms and hypsarrhythmia can directly contribute to cognitive and behavioral impairments. (chop.edu)
  • The observation of movements concerning for infantile spasms typically leads to an urgent EEG test to measure the electrical activity in the brain and look for the irregular brain waves of hypsarrhythmia. (chop.edu)
  • The primary goal of treatment for infantile spasms syndrome is to eliminate the spasms and resolve the hypsarrhythmia pattern on EEG, if present. (chop.edu)
  • West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves). (brainfacts.org)
  • Electroencephalogram demonstrating hypsarrhythmia in infantile spasms. (medscape.com)
  • Infantile spasms cause disorganized chaotic brainwaves called hypsarrhythmia, a type of seizure unlike those in other forms of epilepsy. (aesnet.org)
  • Both spasms and hypsarrhythmia pose a serious and imminent threat to the developing brain. (aesnet.org)
  • There is lack of consensus even among experts as to what exactly constitutes hypsarrhythmia, and the certainty with which one can diagnose infantile spasms. (icnapedia.org)
  • Infantile spasms are seizures characterized by sudden flexion of the arms, forward flexion of the trunk, extension of the legs, and hypsarrhythmia on electroencephalography. (msdmanuals.com)
  • Symptoms and signs reference Infantile spasms are seizures characterized by sudden flexion of the arms, forward flexion of the trunk, extension of the legs, and hypsarrhythmia on electroencephalography. (msdmanuals.com)
  • Infantile spasms (West's Syndrome) is a syndrome that includes a peculiar type of epileptic seizure-the spasms-and an electroencephalographic (EEG) abnormality often called hypsarrhythmia. (altmetric.com)
  • West Syndrome is usually diagnosed by the presence of a triad of symptoms: infantile spasms, hypsarrhythmia, and developmental delay/regression. (defeatingepilepsy.org)
  • Hypsarrhythmia is the pattern of brain waves found in patients with ISs between spasms. (defeatingepilepsy.org)
  • Many children with epileptic or infantile spasms will have a characteristic pattern on their EEG called hypsarrhythmia. (theepilepsynetwork.com)
  • West Syndrome is a mixture of epileptic spasm and a selected sample of electrical activity called hypsarrhythmia. (quickfoster.org)
  • There are children who produce other causes of infantile spasms who haven't any hypsarrhythmia. (quickfoster.org)
  • Our fierce warrior handed away 5 days shy of her fourth birthday from a neurodegenerative disorder, after having battled and overcome hypsarrhythmia and infantile spasms thrice in her short life. (quickfoster.org)
  • A take a look at to measure electrical exercise in the brain and look for irregular mind waves of hypsarrhythmia is usually the outcomes of the remark of movements for infantile spasms. (quickfoster.org)
  • West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram ( EEG ) pattern termed hypsarrhythmia, and mental retardation, although the diagnosis can be made even if 1 of the 3 elements is missing (according to the international classification). (medscape.com)
  • The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation). (unito.it)
  • This consists of the characteristic triad of infantile spasms, mental retardation, and an EEG pattern of hypsarrhythmia. (medscape.com)
  • She was already diagnosed with a global developmental delay, hypotonia, and generalized epilepsy when we added infantile spasms to the list. (healthychildren.org)
  • Infantile spasms are little seizures that can have big consequences. (healthychildren.org)
  • While these seizures may last only a second or two, they often happen close together with each spasm occurring every 5-10 seconds in a series. (healthychildren.org)
  • The International League Against Epilepsy's (ILAE) revised classification and terminology of seizures and epilepsies, published in 2010, designates West syndrome as an electroclinical syndrome with onset in infancy, and epileptic spasms as a type of seizure. (medscape.com)
  • Babies can have seizures or spasms which are a sudden stiffening of the body. (sibs.org.uk)
  • Infantile spasms syndrome is considered an epileptic encephalopathy, conditions in which children have both seizures and cognitive and developmental impairments. (chop.edu)
  • During the typical seizures, called spasms, the child's body may suddenly bend forward, and the arms and legs may stiffen. (chop.edu)
  • Epileptic spasms usually reduce in number by mid-childhood, but more than half of the children with IS will develop other types of seizures. (brainfacts.org)
  • Cryptogenic epilepsy consists of seizures that occur without an identifiable cause in a patient with cognitive impairment or with neurologic deficits (eg, Lennox-Gastaut syndrome (LGS), infantile spasms [see the first image below], and myoclonic astatic epilepsy of Doose. (medscape.com)
  • BALTIMORE - A severe form of epilepsy known as infantile spasms may increase the risk of children developing autism spectrum disorder (ASD) due to the condition's unique seizures and resulting chaotic brainwaves, suggests research being presented at the American Epilepsy Society Annual Meeting . (aesnet.org)
  • Researchers say the results suggest the seizures and abnormal brainwave patterns associated with infantile spasms may be critical factors in a child's development of ASD. (aesnet.org)
  • Infantile spasms often go unrecognized - and therefore untreated - because the seizures are subtle, often looking like a startle reflex, such as stiffening of the arms and legs, or the head dropping forward. (aesnet.org)
  • It is characterized by short tonic seizures called "spasms" that last for only a couple of seconds and occur in clusters. (defeatingepilepsy.org)
  • Children with infantile spasms suffer from seizures that typically begin between 3 and 8 months of age and occur most commonly after waking up or sometimes during sleep. (neurologylive.com)
  • Some of these babies not only have spasms, but they may have more subtle seizures that go along with them. (neurologylive.com)
  • In this variant, the normal perinatal period is soon followed by the appearance of seizures, usually infantile spasms. (unito.it)
  • Half of children who have HIE which involves neonatal seizures, damage to certain areas of the brain on MRI and abnormal muscle tone will go on to develop infantile spasms. (ukinfantilespasmstrust.org)
  • In Ohtahara syndrome, tonic spasms are the dominant seizure type, with little to no myoclonic seizures. (medscape.com)
  • Infantile spasms, first described with a group of symptoms known as West syndrome, is a form of epilepsy that occurs in 1 in 2,000 children. (healthychildren.org)
  • Infantile spasm, sometimes known as West Syndrome, is a very rare form of childhood epilepsy. (childrens.com)
  • West syndrome is an age-dependent expression of a damaged brain, and most patients with infantile spasms have some degree of developmental delay. (medscape.com)
  • In this article, the term infantile spasm is synonymous with West syndrome. (medscape.com)
  • They may also be called Epileptic Spasms or West Syndrome. (sibs.org.uk)
  • Previously, infantile spasms syndrome was also called West syndrome. (chop.edu)
  • An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. (brainfacts.org)
  • Long-term outcome of West syndrome: A study of adults with a history of infantile spasms. (msdmanuals.com)
  • Infantile spasm syndrome (ISs), or more commonly West syndrome, is a rare epileptic disorder that appears during the early stages of infancy. (defeatingepilepsy.org)
  • The most common epilepsy type is West syndrome (also known as infantile spasms syndrome). (theepilepsynetwork.com)
  • An epileptic spasm is a selected sort of seizure that could be seen in a toddler with West Syndrome. (quickfoster.org)
  • West syndrome is a subgroup of spasms. (quickfoster.org)
  • [ 7 , 8 ] As the brain continues in development, 40-60% of these infants have movements that can then evolve into flexor or extensor spasms seen in infantile spasm or West syndrome. (medscape.com)
  • Infantile spasms are a specific type of seizure that begin in the first one to two years of life. (chop.edu)
  • While not every type of seizure causes full-body spasms or a loss of consciousness like you would commonly see in the media, it's important to be aware of seizure symptoms and treatment. (hightimes.com)
  • This sample makes it simple for healthcare providers to diagnose infantile spasms with certainty typically. (quickfoster.org)
  • What are the signs and symptoms of Infantile Spasm (West's Syndrome)? (childrens.com)
  • How is Infantile Spasm (West's Syndrome) diagnosed? (childrens.com)
  • What are the causes of Infantile Spasm (West's Syndrome)? (childrens.com)
  • How is Infantile Spasm (West's Syndrome) treated? (childrens.com)
  • The term infantile spasm has been used to describe the seizure type, the epilepsy syndrome, or both. (medscape.com)
  • Patients are diagnosed with symptomatic infantile spasms if an identifiable factor is responsible for the syndrome. (medscape.com)
  • Infantile spasms syndrome can be caused by a number of conditions. (chop.edu)
  • Many genes have been identified that are associated with infantile spasms syndrome. (chop.edu)
  • In almost all cases when infantile spasms syndrome is found to be caused by a genetic mutation, it has occurred spontaneously (de novo) and was not inherited from either parent. (chop.edu)
  • Mutations in least 100 individual genes have been identified so far that cause infantile spasms syndrome. (chop.edu)
  • Tuberous sclerosis, which is caused by pathogenic variants in the genes TSC1 and TSC2 , can also lead to infantile spasms syndrome. (chop.edu)
  • In about 5% of children with infantile spasms syndrome, larger pieces of DNA that affect multiple genes are missing or extra (microdeletions or microduplications). (chop.edu)
  • Genetic testing , including epilepsy panel testing or whole exome sequencing, to look for specific genetic causes of infantile spasms syndrome. (chop.edu)
  • Genetic testing is able to identify a positive genetic diagnosis in up to 40% of children with infantile spasms syndrome. (chop.edu)
  • The long term outlook for youngsters with childish spasms syndrome depends on the underlying cause of the situation and the extent to which it leads to cognitive impairments. (quickfoster.org)
  • CONCLUSION: Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type. (unito.it)
  • Biochemical mechanisms in pathogenesis of infantile epileptic spasm syndrome. (bvsalud.org)
  • The molecular mechanisms leading to infantile epileptic spasm syndrome (IESS) remain obscure. (bvsalud.org)
  • Adrenocorticotropic hormone, a corticosteroid, and vigabatrin are medications that help control the spasms. (merckmanuals.com)
  • Specific medications that target spasms and should be used as first-line treatment include high-dose oral steroids, ACTH or vigabatrin. (theepilepsynetwork.com)
  • If spasms do not come under control with a trial of steroids and vigabatrin, it is important to be seen at a specialized Epilepsy Center to evaluate the underlying cause and see whether epilepsy surgery might be an option. (theepilepsynetwork.com)
  • We've seen several kids with longstanding infantile spasms who seemed severely autistic, but after they were diagnosed and treated, their autistic symptoms - especially impaired social awareness and engagement - dissipated. (aesnet.org)
  • The first week of December is known as Infantile Spasms Awareness Week (ISAW), a time for communities to come together and raise awareness for infantile spasms, a disorder that affects nearly 1 in every 2000 children. (neurologylive.com)
  • Jonah's 6-month EEG soon showed that he was at high risk for developing a devastating form of childhood epilepsy known as Infantile Spasms. (luriechildrens.org)
  • But when a baby shows signs and symptoms of a serious neurological condition such as infantile spasms (IS), that joy can quickly turn into concern. (healthychildren.org)
  • Symptoms of infantile spasm may be difficult to spot because they can look like a typical startle reflex or head bobbing, or seem like colic or reflux. (childrens.com)
  • Previous history (eg, neonatal hypoxic-ischemic encephalopathy) and/or symptoms and signs suggest the diagnosis of infantile spasms in some children. (msdmanuals.com)
  • This symposium will deal with an important epileptic encephalopathy ie Infantile Spams. (icnapedia.org)
  • An arrest or regression of psychomotor development accompanies the onset of spasms in 70-95% of patients. (medscape.com)
  • The neurologic examination in patients with infantile spasms demonstrates abnormalities in mental status function, specifically delays in developmental milestones consistent with developmental delay or regression. (medscape.com)
  • Spasms tend to occur upon awakening or after feeding, and often occur in clusters of up to 100 spasms at a time. (childrens.com)
  • Infants may have dozens of clusters and several hundred spasms per day. (childrens.com)
  • They last one to two seconds each but may occur in clusters of many spasms at a time, and children can have dozens of these spasm clusters in a day. (chop.edu)
  • Spasms may last several seconds, and children usually have many spasms in clusters, one right after the other. (merckmanuals.com)
  • The spasms usually occur in clusters, often several dozen, in close succession and occur typically after children wake up and occasionally when falling asleep. (msdmanuals.com)
  • Clusters of spasms typically occur soon after the infant wakes up or before falling asleep. (defeatingepilepsy.org)
  • Spasms typically occur in clusters with events every 5-10 seconds over a 5-10 minute period. (theepilepsynetwork.com)
  • Spasms often are seen shortly after waking, and clusters typically are seen several times per day. (theepilepsynetwork.com)
  • Epileptic spasms occur in clusters and typically do not require any rescue medication during the actual event. (theepilepsynetwork.com)
  • Infantile spasms usually occur in clusters, often several dozen, separated by 5-30 seconds. (medscape.com)
  • Infantile spasms can be classified according to their suspected etiology as symptomatic, cryptogenic, or idiopathic. (medscape.com)
  • Even Infantile Spasms constitute the commonest devastating infantile epilepsy worldwide, there is a wide variability in their etiology, clinical spectrum, and diagnostic and management protocols across the world. (icnapedia.org)
  • and is related to the etiology of the infantile spasms. (msdmanuals.com)
  • At the end of this session, learners will be able to locate infantile spasms (IS) in the revised ILAE epilepsy classification, summarize current data or short-term treatment of IS, review impact of IS etiology and treatment on development, and review IS studies currently underway. (chop.edu)
  • Thankfully, over the last several years there have been significant advances in understanding the etiology of infantile spasms and interest in different ways of management due to the seriousness of the disorder. (neurologylive.com)
  • The frequent onset of infantile spasms in infancy suggests that an immature central nervous system (CNS) may be important in the syndrome's pathogenesis. (medscape.com)
  • Especially in the early stage of the condition, soon after the onset of spasms, the EEG may appear normal when the child is awake and only show irregularity when the child is asleep. (chop.edu)
  • The onset of infantile spasms is usually in the first year of life, typically between 4-8 months. (brainfacts.org)
  • The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. (brainfacts.org)
  • may be present before the onset of infantile spasm. (msdmanuals.com)
  • Infantile spasms usually begin around 4-9 months of age with the average age of onset being 6 months. (defeatingepilepsy.org)
  • Usually, infantile spasms occur in infants who have a serious brain disorder or developmental problem, which may have already been diagnosed. (merckmanuals.com)
  • Usually, infantile spasms occur in infants with serious brain disorders and developmental abnormalities that often have already been recognized. (msdmanuals.com)
  • Approximately two-thirds of affected infants will have a detectable underlying neurological abnormality, but still little is known about the pathophysiological basis for infantile spasms, and treatment remains problematic. (altmetric.com)
  • Infantile spasms, a rare and devastating form of epilepsy, silently cast a dark cloud over the lives of infants and their families. (theinventivepost.com)
  • By redefining the treatment paradigm, embracing precision medicine, and fostering a compassionate community, the company is leading the charge against infantile spasms, offering a brighter future filled with renewed hope and possibilities for infants and their families. (theinventivepost.com)
  • Use of smartphone video can accelerate time to diagnosis and treatment of epileptic spasms in infants, new data suggest. (neurodiem.ie)
  • An existing animal model of infantile spasm may provide better insight into the pathogenesis of this disorder. (medscape.com)
  • If your child is diagnosed with infantile spasm, it is important to begin the right treatment as quickly as possible to eliminate the spasms. (childrens.com)
  • Infantile spasms are most common just after a baby wakes up and rarely occur during sleep. (healthychildren.org)
  • Spasms most commonly occur during transitions between waking and sleeping and after feeding. (chop.edu)
  • Infantile spasms last for only a few seconds but typically occur close together in a series that lasts several minutes. (merckmanuals.com)
  • Spasms typically occur soon after children wake up and occasionally occur when falling asleep. (merckmanuals.com)
  • An epileptic spasm may occur due to an abnormality in a small portion of the brain, or may reflect a more generalized brain problem. (theepilepsynetwork.com)
  • Spasms most commonly occur in infancy. (theepilepsynetwork.com)
  • Spasms frequently occur just before sleep or upon awakening. (medscape.com)
  • The only common factor seems to be that the spasms are restricted to a limited period of infancy, during a certain maturational state . (bvsalud.org)
  • Laboratory troenteritis, E. cloacae septicaemia and (ACTH) for infantile spasm. (who.int)
  • a rare hereditary disorder, commonly causes infantile spasms. (merckmanuals.com)
  • The professor of neurology and pediatrics at the University of Alabama at Birmingham Epilepsy Center sat down to discuss a multitude of topics surrounding Infantile Spasms Awareness Week. (neurologylive.com)
  • Spasms usually consist of a sudden jerk (spasm) of the trunk and limbs that looks very much like the infant has startled. (merckmanuals.com)
  • Spasms begin with a sudden, rapid, tonic contraction of the trunk and limbs, sometimes for several seconds. (msdmanuals.com)
  • What are the side effects of infantile spasm treatment? (childrens.com)
  • Identifying a genetic cause can provide families with an explanation for why their child has developed infantile spasms, may inform prognosis, can guide treatment choices, and can provide information regarding recurrence risks for future siblings or other family members. (chop.edu)
  • Early and effective treatment of spasms may improve the child's long-term outlook. (chop.edu)
  • The use of smartphone video to capture infantile spasms (IS) significantly reduces the time to diagnosis and treatment, according to a new study. (cureepilepsy.org)
  • It is essential to recognize and treat spasms as quickly as possible as delayed treatment can correlate with poorer developmental outcome. (theepilepsynetwork.com)
  • The company is dedicated to steering the course towards innovative solutions for the treatment of infantile spasms. (theinventivepost.com)
  • Early recognition and treatment of infantile epileptic spasms is associated with better seizure and developmental outcomes," according to Dr Chethan Rao of the Mayo Clinic in Jacksonville, Florida, USA. (neurodiem.ie)
  • For most children, medications such as hormones, corticosteroids or antiepileptic drugs can effectively control the spasms. (childrens.com)
  • Some children have spasms as the result of brain lesions, and surgical removal of these lesions may result in improvement. (brainfacts.org)
  • In the study presented at AES, researchers found a very low incidence of ASD in siblings of children with infantile spasms, suggesting the chaotic brainwaves may be a more likely cause. (aesnet.org)
  • While about half of the children who had infantile spasms in our study also had ASD, very few of their siblings had any form of epilepsy or ASD," said Shaun Hussain, MD, MS, senior author of the study and director of the UCLA Infantile Spasms Program at UCLA Mattel Children's Hospital, Los Angeles. (aesnet.org)
  • Researchers studied 294 children who had video electroencephalogram (EEG)-confirmed infantile spasms and at least one sibling. (aesnet.org)
  • This was an exploratory study, and it may be that children with infantile spasms may just have a special type of autism," said Dr. Hussain. (aesnet.org)
  • 2. Saemundsen E , Ludvigsson P , Rafnsson V . Autism spectrum disorders in children with a history of infantile spasms: a population-based study. (aesnet.org)
  • In infantile spasms, children suddenly raise and bend their arms, bend their neck and upper body forward, and straighten their legs. (merckmanuals.com)
  • Many children who have infantile spasms also develop abnormally or have intellectual disability. (merckmanuals.com)
  • Children may have many series of spasms a day. (merckmanuals.com)
  • Spasms usually start when children are younger than 1 year of age. (merckmanuals.com)
  • When infantile spasms start, children who are developing normally may at least temporarily stop smiling or lose developmental skills that they have learned, such as being able to sit up or roll over. (merckmanuals.com)
  • Since children with infantile spasms are managed not only by child neurologists, but also by paediatricians and adult neurologists in many parts of the world, this topic is relevant for all. (icnapedia.org)
  • Formulating appropriate management protocols for children with infantile spasms. (icnapedia.org)
  • Infantile spasms can have lasting effects on children, including later life developmental issues, and have the potential to develop into other epilepsies. (neurologylive.com)
  • But it's nice to see there are a group of primarily pediatric neurologists and epilepsy specialists who have devoted an incredible amount of time into unraveling this story and the reasons why children may have infantile spasms. (neurologylive.com)
  • What are some of the challenges that children with infantile spasms face? (neurologylive.com)
  • A group of children who've a particular location in the brian resulting in the spasms ought to be thought-about for surgical procedure early on. (quickfoster.org)
  • Evaluating children with infantile spasms for possible tuberous sclerosis is critical, as this is the single most common disorder, accounting for 10-30% of prenatal cases of infantile spasm. (medscape.com)
  • Infantile spasms is a rare epileptic disorder which typically affects children under the of age 8 months. (neurosciencenews.com)
  • An epileptic spasm consists of brief (1-3 second) events of arm, leg and head flexion (arms and legs pull into the body) or extension. (theepilepsynetwork.com)
  • Spasms can be flexor, extensor, or a mixture of flexion and extension. (medscape.com)
  • Mixed spasms are the most common type, consisting of flexion of the neck and arms and extension of the legs or of flexion of the legs and extension of the arms. (medscape.com)
  • The infantile spasms can have a cluster of tonic flexion (transient neck, trunk, and extremity contraction) or extension of the axial body and limbs (backward extension of head and trunk and abduction of extremities). (medscape.com)
  • Extensor spasms consist of contractions of the extensor musculature, with sudden extension of the neck and trunk and with extension and abduction of the limbs. (medscape.com)
  • Extensor spasms and asymmetrical or unilateral spasms often are associated with symptomatic cases. (medscape.com)
  • In different series, the frequency of the 3 spasm types were 42-50% mixed, 34-42% flexor, and 19-23% extensor. (medscape.com)
  • Infantile spasms are mixed flexor-extensor spasms that last only a few seconds but may repeat more than one hundred times in a row. (paramedicsworld.com)
  • A doctor will make a prognosis if he observes your baby having a spasm after which data mind exercise. (quickfoster.org)
  • Purpose: To evaluate initial magnetic resonance imaging (MRI) abnormalities in infantile spasms, correlate them to clinical characteristics, and describe repeat imaging findings. (cureepilepsy.org)
  • Conclusion: In structural infantile spasms, developmental/acquired subgroups showed differences in pattern of MRI abnormalities but did not correlate with clinical characteristics. (cureepilepsy.org)
  • and the chaotic brainwaves caused by infantile spasms that may increase the risk of ASD. (aesnet.org)
  • What is it like for siblings who have a brother or sister with Infantile Spasms? (sibs.org.uk)
  • Among the siblings, 1 (.3%) had infantile spasms, 5 (2%) had another form of epilepsy and 6 (2%) had ASD. (aesnet.org)
  • However, no pathognomonic findings are present on neurologic examination in patients with infantile spasms. (medscape.com)
  • Flexor spasms consist of brief contractions of the flexor muscles of the neck, trunks, and limbs, resulting in a brief jerk. (medscape.com)
  • Infantile spasms are believed to reflect abnormal interactions between the cortex and brainstem structures. (medscape.com)
  • One theory states that the effect of different stressors in the immature brain produces an abnormal, excessive secretion of corticotropin-releasing hormone (CRH), causing spasms. (medscape.com)
  • Methods: A retrospective review of infantile spasm patients was conducted, classifying abnormal MRI into developmental, acquired, and nonspecific subgroups. (cureepilepsy.org)
  • Results: MRIs were abnormal in 52 of 71 infantile spasm patients (23 developmental, 23 acquired, and 6 nonspecific) with no correlation to the clinical infantile spasm characteristics. (cureepilepsy.org)
  • however, infantile spasms may reflect abnormal interactions between the cortex and brain stem. (msdmanuals.com)
  • Cognitive deficits after cryptogenic infantile spasms with benign seizure evolution. (bvsalud.org)
  • It is also indicated as monotherapy for pediatric patients with infantile spasms 1 month to 2 years of age for whom the potential benefits outweigh the potential risk of vision loss. (rxlist.com)
  • Once spasms have been diagnosed, patients will generally undergo further testing to determine the cause. (theepilepsynetwork.com)
  • A family history of infantile spasms is uncommon, but as many as 17% of patients may have a family history of any epilepsy. (medscape.com)
  • However, a patient with infantile spasms often has normal findings on general physical examination, and no pathognomonic physical findings are present in patients with infantile spasms. (medscape.com)
  • This infusion has produced clinical spasms in rats with electrographic findings similar to those seen in human infantile spasms. (medscape.com)
  • Subsequently, tile spasm was admitted to our hospital partial thromboplastin time (aPTT) laboratory findings returned to normal in November 2012, to regulate her 54 s, D-dimer 2.7 mg/L (reference and control blood culture was negative. (who.int)
  • The research also hints that treatments for infantile spasms could be effective in treating ASD and should be studied as a potential therapy for autism in general. (aesnet.org)
  • Infantile spasms can also be caused by genetic mutations or metabolic disorders. (chop.edu)
  • Many underlying disorders, such as birth injury, metabolic disorders, and genetic disorders can give rise to spasms, making it important to identify the underlying cause. (brainfacts.org)
  • Samples of blood, urine, and the fluid around the spinal cord (cerebrospinal fluid) may be analyzed to check for disorders that may be causing the spasms, such as metabolic disorders. (merckmanuals.com)
  • While video is often used in the clinic to identify spasms, the use of smartphone video in this context has not yet been evaluated. (neurodiem.ie)