AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and Processes
MyoclonusEpilepsies, MyoclonicMyoclonic Epilepsies, ProgressiveLafora DiseaseUnverricht-Lundborg SyndromeCystatin BClonazepamReflex, AbnormalMyoclonic Cerebellar DyssynergiaEvoked Potentials, SomatosensoryMERRF SyndromeProtein Tyrosine Phosphatases, Non-ReceptorLisurideMuscle RigidityElectroencephalographyElectromyographyCerebellar AtaxiaAtaxiaCreutzfeldt-Jakob SyndromePrionsPrion DiseasesPrPSc ProteinsEncephalopathy, Bovine SpongiformBrainScrapie
Reflex myoclonusDystoniaEpilepsyPresence of myoclonusEssential myoclonusMuscle twitchesEncephalomyelitis with rigidity and myoclonusUnique fingerprintSeizuresMuscular coordReticularExample of myoclonusType of myoclonusTypes of myoclonusTremor and myoclonusStimulus-sensitiveSymptomsInvoluntary muscleHypnicMovementsNeurologicalOccurOccursDementiaSegmentalPathologicPhysiologicRefersSGCEBrief involuntaryFocalPatientsContractionPMEsAbnormalitiesNeurologyCherry-red spotsParkinsonismMovement DisordersSpinalTypicallyPersistentSpeculateParticular sensationSevereInfantile formSymptomDescribes
Reflex myoclonus6
  • Cortical reflex myoclonus is thought to be a type of epilepsy that originates in the cerebral cortex - the outer layer, or "gray matter", of the brain, responsible for much of the information processing that takes place in the brain. (wikipedia.org)
  • Cortical reflex myoclonus can be intensified when patients attempt to move in a certain way or perceive a particular sensation. (wikipedia.org)
  • In 1953, Dr. Lombroso undertook research on the cortical mechanisms of reflex myoclonus with Jerome Merlis and Alexander. (childneurologysociety.org)
  • Cortical reflex myoclonus originates in the cerebral cortex (the outer layer of the brain that is largely responsible for information processing). (medlink.com)
  • Reticular reflex myoclonus: a physiological type of human post-hypoxic myoclonus. (bmj.com)
  • Subtypes of epilepsy-induced myoclonus include cortical reflex myoclonus, progressive myoclonus epilepsy, and reticular reflex myoclonus. (angelman.org.nz)
Dystonia11
  • A second group of PME diseases belonging to the class of cerebral storage diseases usually involves myoclonus, visual problems, dementia, and dystonia (sustained muscle contractions that cause twisting movements or abnormal postures). (wikipedia.org)
  • Tremor appears to be the most commonly observed phenomenon, followed by dystonia, bradykinesia, myoclonus, and other unclassifiable abnormal movements. (orpha.net)
  • These serum and cerebrospinal fluid (CSF) autoimmune stiff-person disorders panels can be used for the evaluation of patients with stiffness, spasms, hyperekplexia, limb rigidity, myoclonus, or limb dystonia in the presence or absence of encephalopathy. (arupconsult.com)
  • In some families there is an association of essential myoclonus with essential tremor or a form of dystonia (myoclonus-dystonia). (medlink.com)
  • ANO3/DYT24) and only 11 'DYT' genes have been unequivocally demonstrated to cause different forms of dystonia. (uni-luebeck.de)
  • OBJECTIVE: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder, typically alcohol-responsive upper body myoclonus and dystonia. (cardiff.ac.uk)
  • The existence of dystonia endophenotypes in genetic forms of dystonia suggests that it may be a 'second hit' disorder, in which genetically predisposed brains can be thrown into an unbalanced dystonic state by environmental or genetic factors. (touchneurology.com)
  • This category includes dopa-responsive dystonia (DRD/DYT5), myoclonus dystonia (MD/DYT11) and rapid-onset dystonia-parkinsonism (RDP/DYT12) (see Table 1: Classification of Dystonia). (touchneurology.com)
  • Primary dystonia is subdivided into early-onset and adult-onset forms. (touchneurology.com)
  • Genes have been identified in two forms of early-onset primary dystonia: DYT1 and DYT6. (touchneurology.com)
  • Adult-onset focal dystonia (with cervical dystonia as the most common form) is far more common than early-onset primary dystonia. (touchneurology.com)
Epilepsy12
  • Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene. (bmj.com)
  • The genetic differences between two types of dominant inherited myoclonus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported. (bmj.com)
  • Essential myoclonus occurs in the absence of epilepsy or other apparent abnormalities in the brain or nerves. (wikipedia.org)
  • Some scientists speculate that some forms of essential myoclonus may be a type of epilepsy with no known cause. (wikipedia.org)
  • Progressive myoclonus epilepsy (PME) is a group of diseases characterized by myoclonus, epileptic seizures, tonic-clonic seizures, and other serious symptoms such as trouble walking or speaking. (wikipedia.org)
  • Cortical myoclonus is associated with cerebral cortex damage or epilepsy. (msdmanuals.com)
  • Epileptic myoclonus is the presence of myoclonus in people living with epilepsy. (medlink.com)
  • Myoclonus can occur as the only seizure manifestation, as one component of a seizure, or one of multiple types of seizures within an epilepsy syndrome. (medlink.com)
  • University of South Australia researchers are part of an international research consortium that has discovered a new gene underlying one of the most devastating forms of epilepsy - progressive myoclonus epilepsy (PME). (edu.au)
  • The rare condition can be indistinguishable from other forms of epilepsy at the time of onset, usually in childhood, but the as the condition develops, people with PME suffer increasingly frequent epileptic seizures and a consequent decline in cognitive ability, and debilitating involuntary muscle twitching. (edu.au)
  • The findings were published this week in Nature Genetics and form part of a core of collaborative research into the genetic causes of epilepsy being carried out at UniSA. (edu.au)
  • Each subtype refers to a form of epilepsy that affects different brain regions. (angelman.org.nz)
Presence of myoclonus1
  • However, presence of myoclonus does not interact with the effects of anti-seizure medication and cannot predict a poor outcome without false positives. (bvsalud.org)
Essential myoclonus2
Muscle twitches3
  • Individuals with sialidosis type I also experience muscle twitches (myoclonus), difficulty coordinating movements (ataxia), leg tremors, and seizures. (medlineplus.gov)
  • Physiologic myoclonus involves quick muscle twitches followed by relaxation. (medlink.com)
  • Initial symptoms usually include language delay, recurrent seizures and difficulty coordinating movements, and affected children also develop muscle twitches (myoclonus) and vision loss. (pharmatimes.com)
Encephalomyelitis with rigidity and myoclonus3
  • Stiff-person spectrum disorders encompass classical stiff-person syndrome, partial/focal stiff-person forms such as stiff-limb and stiff-trunk, pure cerebellar ataxia, and a severe encephalomyelitic form referred to as progressive encephalomyelitis with rigidity and myoclonus (PERM). (arupconsult.com)
  • Progressive encephalomyelitis with rigidity and myoclonus: glycine and NMDA receptor antibodies. (ox.ac.uk)
  • BACKGROUND: The syndrome of progressive encephalopathy with limb rigidity has been historically termed progressive encephalomyelitis with rigidity and myoclonus (PERM) or stiff-person syndrome plus. (ox.ac.uk)
Unique fingerprint1
Seizures4
  • These myoclonic twitches, jerks, or seizures are usually caused by sudden muscle contractions (positive myoclonus) or brief lapses of contraction (negative myoclonus). (wikipedia.org)
  • Lafora disease is characterized by myoclonus, epileptic seizures, and dementia (progressive loss of memory and other intellectual functions). (wikipedia.org)
  • Patients with PERM exhibit a more severe form that also includes dysautonomia, encephalopathy (often with seizures), and myoclonus (muscle jerking). (arupconsult.com)
  • The likely consequence of the mutation is that inhibitory signals in certain parts of patient brain are reduced, which makes patients susceptible to epileptic seizures and myoclonus starting in childhood. (edu.au)
Muscular coord1
Reticular1
  • Analysis of the findings suggests that the mechanism of the myoclonus is hyperactivity of a reflex mediated in the reticular formation of the medulla oblongata. (bmj.com)
Example of myoclonus2
Type of myoclonus2
  • In this type of myoclonus, jerks usually involve only a few muscles in one part of the body, but jerks involving many muscles may occur. (wikipedia.org)
  • This type of myoclonus can severely impair speech and gait. (msdmanuals.com)
Types of myoclonus2
Tremor and myoclonus2
  • Electromyography-based tremor and myoclonus analysis can be used to distinguish psychogenic tremor and myoclonus from their organic counterparts. (orpha.net)
  • Caviness, JN , Tsuboi, Y & Wszolek, ZK 2003, ' Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation ', Parkinsonism and Related Disorders , vol. 9, no. 3, pp. 151-157. (elsevierpure.com)
Stimulus-sensitive1
  • Some forms appear to be stimulus sensitive. (medlink.com)
Symptoms7
  • CJD symptoms include dementia, myoclonus, and other central nervous. (msdmanuals.com)
  • Infantile sialidosis type II shares some features with the congenital form, although the signs and symptoms are slightly less severe and begin within the first year of life. (medlineplus.gov)
  • The juvenile form has the least severe signs and symptoms of the different forms of sialidosis type II. (medlineplus.gov)
  • Patients with the type II form of sialidosis have an earlier onset of symptoms and exhibit dysmorphic and somatic features that progressively worsen. (medscape.com)
  • Children who show signs and symptoms of Mucolipidosis I at birth typically have a more severe form of the disease. (childrenshospital.org)
  • While we don't want to encourage self-diagnosis, the above signs and symptoms can help make sense of what you are experiencing with a myoclonus. (broadviewhealthcentre.com)
  • If you are experience myoclonus symptoms that are regularly occurring and for extended durations, it's a good idea to see a professional to make a proper diagnosis and potential treatment plan - it's important to diagnose properly as there are several movement disorders with similar symptoms. (broadviewhealthcentre.com)
Involuntary muscle4
  • Myoclonus is a sudden, involuntary muscle jerk, shake or spasm that may be caused due to disturbance in the brain and nervous system. (netmeds.com)
  • Myoclonus, or hypnic jerks, are a form of involuntary muscle movement. (vywhy.com)
  • Myoclonus of the sleep state is characterized by involuntary muscle twitching or jerking. (vywhy.com)
  • Myoclonus, or involuntary muscle movements, have been described by the author of an older study from 2003 as a characteristic of the human nervous system that is present from the time of conception. (vywhy.com)
Hypnic3
Movements2
  • Methods: We describe an Italian family in which three sisters were affected by ataxia with postural/intentional myoclonus and involuntary movements at onset, which persisted during the disease. (uni-koeln.de)
  • Myoclonus refers to involuntary rapid, jerking movements that suddenly occur without preemptive notice. (broadviewhealthcentre.com)
Neurological4
  • Bovine spongiform encephalopathy (BSE) first came to the attention of the scientific community in November 1986 with the appearance of a newly recognized form of neurological disease in cattle in the United Kingdom. (who.int)
  • These syndromes can form when your immune system attacks healthy neurological cells. (healthline.com)
  • OBJECTIVE: To clarify the significance of any form of myoclonus in comatose patients after cardiac arrest with rhythmic and periodic EEG patterns (RPPs) by analyzing associations between myoclonus and EEG pattern, response to anti-seizure medication and neurological outcome. (bvsalud.org)
  • Myoclonus was associated with poor outcome at three months, but not invariably so (poor neurological outcome in 96% vs 82%, pâ ¯=â ¯0.004). (bvsalud.org)
Occur1
  • Leukodystrophies are frequently regarded as childhood disorders, but they can occur at any age, and the clinical and imaging patterns of the adult-onset form are usually different from the better-known childhood variants. (dovepress.com)
Occurs4
  • It occurs worldwide and has several forms and subtypes. (msdmanuals.com)
  • This form occurs in healthy people, causes no difficulties, and does not require medical treatment. (medlink.com)
  • It is almost always not severe enough that it needs medical attention, however, if the myoclonus is ongoing and frequently occurs, then is might be of some concern. (broadviewhealthcentre.com)
  • Epileptic myoclonus occurs as part of an underlying epileptic disorder. (angelman.org.nz)
Dementia1
  • Alzheimer disease (AD) is the most common progressive degenerative form of dementia, strongly associated with advancing age. (medscape.com)
Segmental3
Pathologic2
  • Other causes of pathologic myoclonus include degenerative disorders affecting the basal ganglia and some dementias. (msdmanuals.com)
  • Pathologic myoclonus may involve persistent, shock-like contractions in a group of muscles and is more widespread in general. (medlink.com)
Physiologic1
Refers1
  • Myoclonus refers to sudden, brief involuntary twitching or jerking of a muscle or group of muscles. (medlink.com)
SGCE1
  • We analyzed the psychiatric data from four international centers, forming the largest cohort to date, to further determine the extent and type of psychiatric disorders in M-D. METHODS: Psychiatric data from SGCE mutation-positive M-D cohorts, collected by movement disorder specialists in the Netherlands, United Kingdom, United States, and Germany, were analyzed. (cardiff.ac.uk)
Brief involuntary1
  • Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching of a muscle, a joint, or a group of muscles, different from clonus, which is rhythmic or regular. (wikipedia.org)
Focal1
  • Classical stiff-person syndrome typically affects the lower back and lower extremities, whereas the focal forms are limited to either the limbs or the trunk. (arupconsult.com)
Patients5
  • Patients with type I disease have been referred to as having "cherry-red spot-myoclonus" syndrome. (medscape.com)
  • The reported incidence of cherry-red spots is less than 75%, in contrast to the virtual 100% in patients with the type I form. (medscape.com)
  • Studies in patients have highlighted two forms of inhibition, ipsilateral cortical and transcallosal, which are reduced in those cases with more extensive jerks. (ox.ac.uk)
  • MEASUREMENTS AND MAIN RESULTS: Of 157 patients, 98 (63%) had myoclonus at inclusion. (bvsalud.org)
  • CONCLUSIONS: Myoclonus in comatose patients after cardiac arrest with RPPs is associated with poor outcome and discontinuous or suppressed EEG. (bvsalud.org)
Contraction2
  • Myoclonus is a brief, shocklike contraction of a muscle or group of muscles. (msdmanuals.com)
  • Myoclonus is more commonly defined as muscle jerks (contraction of groups of muscles) and it is a clinical sign and not the disease itself. (broadviewhealthcentre.com)
PMEs1
Abnormalities2
  • Features of this condition usually appear in late childhood and may include mildly "coarse" facial features, mild bone abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark red spots on the skin (angiokeratomas). (medlineplus.gov)
  • Our purpose was to: (1) characterize the tremor patterns, (2) characterize the myoclonus physiology, (3) determine whether electrophysiology can detect abnormalities in asymptomatic cases. (elsevierpure.com)
Neurology1
  • "Myoclonus After 5 Hydroxytryptophan In Rats With Lesions Of Indoleamine Neurons In The Central Nervous System" Neurology . (erowid.org)
Cherry-red spots1
  • As children with infantile sialidosis type II get older, they may develop myoclonus and cherry-red spots. (medlineplus.gov)
Parkinsonism1
  • Neuroimaging in the form of [123 I]-beta-CIT SPECT and [18F]-DOPA-PET is sometimes used in difficult to diagnose cases of psychogenic parkinsonism to exclude an organic etiology. (orpha.net)
Movement Disorders2
  • Based on a recent consensus approach, dystonias are subdivided on clinical grounds into isolated (with or without tremor) and combined (with other movement disorders) forms. (uni-luebeck.de)
  • A total of 127 genes implicated in movement disorders were selected to form a customized enrichment in solution capture array. (neurologyadvisor.com)
Spinal1
Typically2
  • This form of the disease typically affects younger people. (mightyguide.net)
  • These agents also form covalent cross-links in DNA, more typically at the 0-6 position of guanine as the most important DNA adduct site, and have the primary adverse effects of myelosuppression and GI toxicity. (vin.com)
Persistent1
  • Persistent and paroxysmal forms are distinguished according to their temporal pattern. (uni-luebeck.de)
Speculate1
  • Because the same genotype was described in six cases from a Tunisian family with a typical AOA2 without myoclonus, we speculate this latter feature is associated with a second mutated gene, namely AFG3L2 (p.Gly116Arg variant). (uni-koeln.de)
Particular sensation1
  • It becomes more intense when a person attempts to move in a certain way (action myoclonus) or perceives a particular sensation. (medlink.com)
Severe6
  • Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is the less severe form of this condition. (medlineplus.gov)
  • Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms. (medlineplus.gov)
  • Type II can be further divided into an infantile onset form and a more severe congenital onset form. (medscape.com)
  • The more severe congenital form of type II sialidosis has onset in utero and results in hydrops fetalis , hepatomegaly, and either still birth or death within a period of months. (medscape.com)
  • Type A, the most severe form, begins in early infancy. (nih.gov)
  • Myoclonus can also vary significantly with intensity and frequency, can be localized or experienced throughout the whole body, and can often be severe enough to interfere with any type of every day task. (broadviewhealthcentre.com)
Infantile form1
  • Takiguchi K, Itoh K, Shimmoto M, Ozand PT, Doi H, Sakuraba H. Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (proteopedia.org)
Symptom2
  • While some people may not be troubled by this or need treatment, others may require treatment where myoclonus may be a symptom of a more complex and disturbing sleep disorder. (medlink.com)
  • Myoclonus describes a symptom and not a diagnosis of a disease. (angelman.org.nz)
Describes2
  • Myoclonus (myo "muscle", clonic "jerk") describes a medical sign and, generally, is not a diagnosis of a disease. (wikipedia.org)
  • Myoclonus is not a disease itself, rather it describes a clinical sign. (medlink.com)