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Myoclonus Reference – Symptoms, Diagnosis, Treatments
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Myoclonus Reference – Symptoms, Diagnoses, Treatments
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Myoclonus-From Wikipedia, the free encyclopedia
Myoclonus Classification & external resources ICD-10 G25.3 ICD-9 333.2 DiseasesDB 23053 MeSH D009207 Myoclonus /ˌmɑɪ̯ˈɑk.lə.nəs/ is brief, involuntary twitching of a muscle or a group of muscles. It describes a medical sign (as opposed to symptom) and, generally, is not a diagnosis of a disease. The myoclonic twitches or jerks are usually caused by sudden muscle contractions; they also can result from brief lapses of contraction. Contractions are called positive myoclonus; relaxations are called negative myoclonus. The most common time for people to encounter them is while falling asleep (hypnic jerk), but myoclonic jerks are also a sign of a number of neurological disorders. Hiccups are also a kind of myoclonic jerk specifically affecting the diaphragm.
Myoclonic jerks may occur alone or in sequence, in a pattern or without pattern. They may occur infrequently or many times each minute. Most often, myoclonus is one of several signs in a wide variety of nervous system disorders such as multiple sclerosis, Parkinson's disease, Alzheimer's disease, Subacute sclerosing panencephalitis and Creutzfeldt-Jakob disease and some forms of epilepsy.
Anatomically, myoclonus may originate from lesions of the cortex, subcortex or spinal cord. The presence of myoclonus above the foramen magnum effectively excludes spinal myoclonus, but further localisation relies on further investigation with electromyography (EMG) and electroencephalography (EEG).
Contents 1 Symptoms 2 Types 3 Cause 4 Pathophysiology 5 Treatment 6 Prognosis 7 External links 8 Reference
Symptoms Myoclonic seizures can be described as 'jumps'. They are caused by rapid contraction and relaxation of the muscles. People without epilepsy can suffer small but similar jerks in the form of hiccups or brief twitches; these are perfectly normal.
In someone with epilepsy, myoclonic seizures cause abnormal movements on both sides of the body at the same time. In reflex epilepsies, myoclonic seizures can be brought on by flashing lights or other environmental triggers. (See photosensitive epilepsy.)
Familiar examples of normal myoclonus include hiccups and hypnic jerks that some people experience while drifting off to sleep. A similar but distinguishable type of jerk is often experienced during meditation. Severe cases of pathologic myoclonus can distort movement and severely limit a person's ability to eat, talk, and walk. Myoclonic jerks commonly occur in individuals with epilepsy. The most common types of myoclonus include action, cortical reflex, essential, palatal, progressive myoclonus epilepsy, reticular reflex, sleep, and stimulus-sensitive.
Types In juvenile myoclonic epilepsy, seizures usually involve the neck, shoulders, and upper arms. These seizures typically occur shortly after waking up. They normally begin between puberty and early adulthood. They can usually be controlled with medication, but it must be taken for life.
In rare cases, myoclonic seizures can be symptomatic of Lennox-Gastaut syndrome, beginning in early childhood and usually involving the face, neck, shoulders, and upper arms. In these cases, the seizures tend to be strong and difficult to control.
Progressive myoclonic epilepsy includes both myoclonic and tonic-clonic seizures. Treatment is not normally successful for any extended period of time. Classifying the many different forms of myoclonus is difficult because the causes, effects, and responses to therapy vary widely. Listed below are the types most commonly described.
Action myoclonus is characterized by muscular jerking triggered or intensified by voluntary movement or even the intention to move. It may be made worse by attempts at precise, coordinated movements. Action myoclonus is the most disabling form of myoclonus and can affect the arms, legs, face, and even the voice. This type of myoclonus often is caused by brain damage that results from a lack of oxygen and blood flow to the brain when breathing or heartbeat is temporarily stopped. 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. In this type of myoclonus, jerks usually involve only a few muscles in one part of the body, but jerks involving many muscles also may occur. Cortical reflex myoclonus can be intensified when patients attempt to move in a certain way or perceive a particular sensation. Essential myoclonus occurs in the absence of epilepsy or other apparent abnormalities in the brain or nerves. It can occur randomly in people with no family history, but it also can appear among members of the same family, indicating that it sometimes may be an inherited disorder. Essential myoclonus tends to be stable without increasing in severity over time. Some scientists speculate that some forms of essential myoclonus may be a type of epilepsy with no known cause. Palatal myoclonus is a regular, rhythmic contraction of one or both sides of the rear of the roof of the mouth, called the soft palate. These contractions may be accompanied by myoclonus in other muscles, including those in the face, tongue, throat, and diaphragm. The contractions are very rapid, occurring as often as 150 times a minute, and may persist during sleep. The condition usually appears in adults and can last indefinitely. People with palatal myoclonus usually regard it as a minor problem, although some occasionally complain of a "clicking" sound in the ear, a noise made as the muscles in the soft palate contract. Progressive myoclonus epilepsy (PME) is a group of diseases characterized by myoclonus, epileptic seizures, and other serious symptoms such as trouble walking or speaking. These rare disorders often get worse over time and sometimes are fatal. Studies have identified at least three forms of PME. Lafora disease is inherited as an autosomal recessive disorder, meaning that the disease occurs only when a child inherits two copies of a defective gene, one from each parent. Lafora disease is characterized by myoclonus, epileptic seizures, and dementia (progressive loss of memory and other intellectual functions). 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). Another group of PME disorders in the class of system degenerations often is accompanied by action myoclonus, seizures, and problems with balance and walking. Many of these PME diseases begin in childhood or adolescence. Reticular reflex myoclonus is thought to be a type of generalized epilepsy that originates in the brainstem, the part of the brain that connects to the spinal cord and controls vital functions such as breathing and heartbeat. Myoclonic jerks usually affect the whole body, with muscles on both sides of the body affected simultaneously. In some people, myoclonic jerks occur in only a part of the body, such as the legs, with all the muscles in that part being involved in each jerk. Reticular reflex myoclonus can be triggered by either a voluntary movement or an external stimulus. Stimulus-sensitive myoclonus is triggered by a variety of external events, including noise, movement, and light. Surprise may increase the sensitivity of the patient. Sleep myoclonus occurs during the initial phases of sleep, especially at the moment of dropping off to sleep. Some forms appear to be stimulus-sensitive. Some persons with sleep myoclonus are rarely troubled by, or need treatment for, the condition. However, myoclonus may be a symptom in more complex and disturbing sleep disorders, such as restless legs syndrome, and may require treatment by a doctor.
Cause Myoclonus may develop in response to infection, head or spinal cord injury, stroke, brain tumors, kidney or liver failure, lipid storage disease, chemical or drug poisoning, or other disorders. Prolonged oxygen deprivation to the brain, called hypoxia, may result in posthypoxic myoclonus. Myoclonus can occur by itself, but most often it is one of several symptoms associated with a wide variety of nervous system disorders. For example, myoclonic jerking may develop in patients with multiple sclerosis, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jakob disease or Lupus. Myoclonic jerks commonly occur in persons with epilepsy, a disorder in which the electrical activity in the brain becomes disordered leading to seizures.
Pathophysiology Although some cases of myoclonus are caused by an injury to the peripheral nerves, most myoclonus is caused by a disturbance of the central nervous system. Studies suggest that several locations in the brain are involved in myoclonus. One such location, for example, is in the brainstem close to structures that are responsible for the startle response, an automatic reaction to an unexpected stimulus involving rapid muscle contraction.
The specific mechanisms underlying myoclonus are not yet fully understood. Scientists believe that some types of stimulus-sensitive myoclonus may involve overexcitability of the parts of the brain that control movement. These parts are interconnected in a series of feedback loops called motor pathways. These pathways facilitate and modulate communication between the brain and muscles. Key elements of this communication are chemicals known as neurotransmitters, which carry messages from one nerve cell, or neuron, to another. Neurotransmitters are released by neurons and attach themselves to receptors on parts of neighboring cells. Some neurotransmitters may make the receiving cell more sensitive, while others tend to make the receiving cell less sensitive. Laboratory studies suggest that an imbalance between these chemicals may underlie myoclonus.
Some researchers speculate that abnormalities or deficiencies in the receptors for certain neurotransmitters may contribute to some forms of myoclonus. Receptors that appear to be related to myoclonus include those for two important inhibitory neurotransmitters: serotonin, which constricts blood vessels and brings on sleep, and gamma-aminobutyric acid (GABA), which helps the brain maintain muscle control. Other receptors with links to myoclonus include those for opiates, drugs that induce sleep, and for glycine, an inhibitory neurotransmitter that is important for the control of motor and sensory functions in the spinal cord. More research is needed to determine how these receptor abnormalities cause or contribute to myoclonus.
Treatment Treatment of myoclonus focuses on medications that may help reduce symptoms. The drug of first choice to treat myoclonus, especially certain types of action myoclonus, is clonazepam, a type of tranquilizer. Dosages of clonazepam usually are increased gradually until the patient improves or side effects become harmful. Drowsiness and loss of coordination are common side effects. The beneficial effects of clonazepam may diminish over time if the patient develops a tolerance for the drug.
Many of the drugs used for myoclonus, such as barbiturates, phenytoin and primidone, are also used to treat epilepsy. Barbiturates slow down the central nervous system and cause tranquilizing or antiseizure effects. Phenytoin and primidone are effective antiepileptics drugs, although phenytoin can cause liver failure or have other harmful long-term effects in patients with PME. Sodium valproate is an alternative therapy for myoclonus and can be used either alone or in combination with clonazepam. Although clonazepam and/or sodium valproate are effective in the majority of patients with myoclonus, some people have adverse reactions to these drugs.
Some studies have shown that doses of 5-hydroxy-tryptophan (5-HTP), a building block of serotonin, leads to improvement in patients with some types of action myoclonus and PME. However, other studies indicate that 5-HTP therapy is not effective in all people with myoclonus, and, in fact, may worsen the condition in some patients. These differences in the effect of 5-HTP on patients with myoclonus have not yet been explained, but they may offer important clues to underlying abnormalities in serotonin receptors.
The complex origins of myoclonus may require the use of multiple drugs for effective treatment. Although some drugs have a limited effect when used individually, they may have a greater effect when used with drugs that act on different pathways or mechanisms in the brain. By combining several of these drugs, scientists hope to achieve greater control of myoclonic symptoms. Some drugs currently being studied in different combinations include clonazepam, sodium valproate, piracetam, and primidone. Hormonal therapy also may improve responses to antimyoclonic drugs in some people.
Prognosis Although myoclonus is not a life-threatening condition, it may result in serious, debilitating impairments.
Reference Myoclonus Fact Sheet, National Institute of Neurological Disorders and Stroke (viewed 5 Apr 2005) [hide]v • d • eNervous system pathology (G) Inflammatory diseases of the central nervous system Meningitis - Encephalitis - Myelitis - Encephalomyelitis (Acute disseminated) - Tropical spastic paraparesis Systemic atrophies primarily affecting the central nervous system Huntington's disease - Spinocerebellar ataxia (Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia) - Spinal muscular atrophy (Werdnig-Hoffman disease, Fazio Londe syndrome, Kugelberg-Welander disease, Motor neurone disease, Amyotrophic lateral sclerosis, Primary lateral sclerosis, Progressive bulbar palsy) Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Progressive supranuclear palsy - Striatonigral degeneration - Dystonia (Spasmodic torticollis, Meige's syndrome, Blepharospasm) - Essential tremor - Myoclonus - Restless legs syndrome - Stiff person syndrome - Alzheimer's disease - Multiple sclerosis - Central pontine myelinolysis Episodic and paroxysmal disorders Seizure/Epilepsy (Focal seizures, Complex partial seizure, Absence seizure, Atonic seizure, Lennox-Gastaut syndrome, West syndrome, Epilepsia partialis continua, Status epilepticus) - Headache (Migraine, Cluster, Vascular, Tension) - Amaurosis fugax - Foville's syndrome - Millard-Gubler syndrome - Lateral medullary syndrome - Weber's syndrome - Sleep disorder (Insomnia, Hypersomnia, Sleep apnea, Narcolepsy, Cataplexy) Nerve, nerve root and plexus disorders Trigeminal neuralgia - Bell's palsy - Thoracic outlet syndrome - Phantom limb - Mononeuropathy (Carpal tunnel syndrome, Meralgia paraesthetica, Tarsal tunnel syndrome) Polyneuropathies and other disorders of the peripheral nervous system Charcot-Marie-Tooth disease - Dejerine Sottas syndrome - Refsum's disease - Morvan's syndrome - Guillain-Barré syndrome - Polyneuropathy - Alcoholic polyneuropathy Diseases of myoneural junction and muscle Myasthenia gravis - Muscular dystrophy - Myotonic dystrophy - Myotonia congenita - Thomsen disease - Neuromyotonia - Paramyotonia congenita - Centronuclear myopathy - Periodic paralysis (Hypokalemic, Hyperkalemic) - Lambert-Eaton myasthenic syndrome Cerebral palsy and other paralytic syndromes Cerebral palsy - Paralysis - Hemiplegia - Spastic paraplegia - Paraplegia - Quadriplegia - Diplegia - Monoplegia - Cauda equina syndrome Other disorders of the nervous system autonomic (Peripheral neuropathy, Familial dysautonomia, Horner's syndrome, Multiple system atrophy, Shy-Drager syndrome) - Hydrocephalus (Normal pressure) - Idiopathic intracranial hypertension - Encephalopathy - Brain herniation - Cerebral edema - Reye's syndrome - Syringomyelia - Syringobulbia - Spinal cord compression
Retrieved from "http://en.wikipedia.org/wiki/Myoclonus" Category: Medical signs
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