Myoclonus Fact Sheet

From: Subject: Myoclonus Fact Sheet Date: Thu, 4 Mar 2004 17:41:42 -0800 MIME-Version: 1.0 Content-Type: multipart/related; boundary="----=_NextPart_000_0000_01C4020F.F4B93540"; type="text/html" X-MimeOLE: Produced By Microsoft MimeOLE V6.00.2800.1165 This is a multi-part message in MIME format. ------=_NextPart_000_0000_01C4020F.F4B93540 Content-Type: text/html; charset="iso-8859-1" Content-Transfer-Encoding: quoted-printable Content-Location: http://www.ninds.nih.gov/health_and_medical/pubs/myoclonus_doc.htm Myoclonus Fact Sheet

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Myoclonus Fact = Sheet

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What=20 is myoclonus?
What=20 are the causes of myoclonus?
What=20 are the types of myoclonus?
What=20 do scientists know about myoclonus?
How=20 is myoclonus treated?
What=20 research is being done?
Where=20 can I get more information?

What is myoclonus?

Myoclonus describes a symptom and generally is not a diagnosis = of a=20 disease. It refers to sudden, involuntary jerking of a muscle or = group of=20 muscles. Myoclonic twitches or jerks usually are caused by sudden = muscle=20 contractions, called positive myoclonus, or by muscle relaxation, = called=20 negative myoclonus. Myoclonic jerks may occur alone or in = sequence, in a=20 pattern or without pattern. They may occur infrequently or many = times each=20 minute. Myoclonus sometimes occurs in response to an external = event or=20 when a person attempts to make a movement. The twitching cannot be = controlled by the person experiencing it.

In its simplest form, myoclonus consists of a muscle twitch = followed by=20 relaxation. A hiccup is an example of this type of myoclonus. = Other=20 familiar examples of myoclonus are the jerks or "sleep starts" = that some=20 people experience while drifting off to sleep. These simple forms = of=20 myoclonus occur in normal, healthy persons and cause no = difficulties. When=20 more widespread, myoclonus may involve persistent, shock-like = contractions=20 in a group of muscles. In some cases, myoclonus begins in one = region of=20 the body and spreads to muscles in other areas. More severe cases = of=20 myoclonus can distort movement and severely limit a person's = ability to=20 eat, talk, or walk. These types of myoclonus may indicate an = underlying=20 disorder in the brain or nerves.

What are the causes of myoclonus?

Myoclonus may develop in response to infection, head or spinal = cord=20 injury, stroke, brain tumors, kidney or liver failure, lipid = storage=20 disease, chemical or drug poisoning, or other disorders. Prolonged = oxygen=20 deprivation to the brain, called hypoxia, may result in = posthypoxic=20 myoclonus. Myoclonus can occur by itself, but most often it is one = of=20 several symptoms associated with a wide variety of nervous system=20 disorders. For example, myoclonic jerking may develop in patients = with=20 multiple sclerosis, Parkinson's disease, Alzheimer's disease, or=20 Creutzfeldt-Jakob disease. Myoclonic jerks commonly occur in = persons with=20 epilepsy, a disorder in which the electrical activity in the brain = becomes=20 disordered leading to seizures.

What are the types of myoclonus?

Classifying the many different forms of myoclonus is difficult = because=20 the causes, effects, and responses to therapy vary widely. Listed = below=20 are the types most commonly described.

Action myoclonus is characterized by muscular jerking = triggered=20 or intensified by voluntary movement or even the intention to = move. It may=20 be made worse by attempts at precise, coordinated movements. = Action=20 myoclonus is the most disabling form of myoclonus and can affect = the arms,=20 legs, face, and even the voice. This type of myoclonus often is = caused by=20 brain damage that results from a lack of oxygen and blood flow to = the=20 brain when breathing or heartbeat is temporarily stopped.

Cortical reflex myoclonus is thought to be a type of = epilepsy=20 that originates in the cerebral cortex - the outer layer, or "gray = matter," of the brain, responsible for much of the information = processing=20 that takes place in the brain. In this type of myoclonus, jerks = usually=20 involve only a few muscles in one part of the body, but jerks = involving=20 many muscles also may occur. Cortical reflex myoclonus can be = intensified=20 when patients attempt to move in a certain way or perceive a = particular=20 sensation.

Essential myoclonus occurs in the absence of epilepsy = or other=20 apparent abnormalities in the brain or nerves. It can occur = randomly in=20 people with no family history, but it also can appear among = members of the=20 same family, indicating that it sometimes may be an inherited = disorder.=20 Essential myoclonus tends to be stable without increasing in = severity over=20 time. Some scientists speculate that some forms of essential = myoclonus may=20 be a type of epilepsy with no known cause.

Palatal myoclonus is a regular, rhythmic contraction of = one or=20 both sides of the rear of the roof of the mouth, called the soft = palate.=20 These contractions may be accompanied by myoclonus in other = muscles,=20 including those in the face, tongue, throat, and diaphragm. The=20 contractions are very rapid, occurring as often as 150 times a = minute, and=20 may persist during sleep. The condition usually appears in adults = and can=20 last indefinitely. People with palatal myoclonus usually regard it = as a=20 minor problem, although some occasionally complain of a "clicking" = sound=20 in the ear, a noise made as the muscles in the soft palate = contract.

Progressive myoclonus epilepsy (PME) is a group of = diseases=20 characterized by myoclonus, epileptic seizures, and other serious = symptoms=20 such as trouble walking or speaking. These rare disorders often = get worse=20 over time and sometimes are fatal. Studies have identified at = least three=20 forms of PME. Lafora body disease is inherited as an = autosomal=20 recessive disorder, meaning that the disease occurs only when a = child=20 inherits two copies of a defective gene, one from each parent. = Lafora body=20 disease is characterized by myoclonus, epileptic seizures, and = dementia=20 (progressive loss of memory and other intellectual functions). A = second=20 group of PME diseases belonging to the class of cerebral = storage=20 diseases usually involves myoclonus, visual problems, = dementia, and=20 dystonia (sustained muscle contractions that cause twisting = movements or=20 abnormal postures). Another group of PME disorders in the class of = system degenerations often is accompanied by action = myoclonus,=20 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=20 generalized epilepsy that originates in the brainstem, the part of = the=20 brain that connects to the spinal cord and controls vital = functions such=20 as breathing and heartbeat. Myoclonic jerks usually affect the = whole body,=20 with muscles on both sides of the body affected simultaneously. In = some=20 people, myoclonic jerks occur in only a part of the body, such as = the=20 legs, with all the muscles in that part being involved in each = jerk.=20 Reticular reflex myoclonus can be triggered by either a voluntary = movement=20 or an external stimulus.

Stimulus-sensitive myoclonus is triggered by a variety = of=20 external events, including noise, movement, and light. Surprise = may=20 increase the sensitivity of the patient.

Sleep myoclonus occurs during the initial phases of = sleep,=20 especially at the moment of dropping off to sleep. Some forms = appear to be=20 stimulus-sensitive. Some persons with sleep myoclonus are rarely = troubled=20 by, or need treatment for, the condition. However, myoclonus may = be a=20 symptom in more complex and disturbing sleep disorders, such as = restless=20 legs syndrome, and may require treatment by a doctor.

What do scientists know about = myoclonus?

Although some cases of myoclonus are caused by an injury to the = peripheral nerves (defined as the nerves outside the brain and = spinal=20 cord, or the central nervous system), most myoclonus is caused by = a=20 disturbance of the central nervous system. Studies suggest that = several=20 locations in the brain are involved in myoclonus. One such = location, for=20 example, is in the brainstem close to structures that are = responsible for=20 the startle response, an automatic reaction to an unexpected = stimulus=20 involving rapid muscle contraction.

The specific mechanisms underlying myoclonus are not yet fully=20 understood. Scientists believe that some types of = stimulus-sensitive=20 myoclonus may involve overexcitability of the parts of the brain = that=20 control movement. These parts are interconnected in a series of = feedback=20 loops called motor pathways. These pathways facilitate and = modulate=20 communication between the brain and muscles. Key elements of this=20 communication are chemicals known as neurotransmitters, which = carry=20 messages from one nerve cell, or neuron, to another. = Neurotransmitters are=20 released by neurons and attach themselves to receptors on parts of = neighboring cells. Some neurotransmitters may make the receiving = cell more=20 sensitive, while others tend to make the receiving cell less = sensitive.=20 Laboratory studies suggest that an imbalance between these = chemicals may=20 underlie myoclonus.

Some researchers speculate that abnormalities or deficiencies = in the=20 receptors for certain neurotransmitters may contribute to some = forms of=20 myoclonus. Receptors that appear to be related to myoclonus = include those=20 for two important inhibitory neurotransmitters: serotonin, which=20 constricts blood vessels and brings on sleep, and = gamma-aminobutyric acid=20 (GABA), which helps the brain maintain muscle control. Other = receptors=20 with links to myoclonus include those for opiates, drugs that = induce=20 sleep, and for glycine, an inhibitory neurotransmitter that is = important=20 for the control of motor and sensory functions in the spinal cord. = More=20 research is needed to determine how these receptor abnormalities = cause or=20 contribute to myoclonus.

How is myoclonus treated?

Treatment of myoclonus focuses on medications that may help = reduce=20 symptoms. The drug of first choice to treat myoclonus, especially = certain=20 types of action myoclonus, is clonazepam, a type of tranquilizer. = Dosages=20 of clonazepam usually are increased gradually until the patient = improves=20 or side effects become harmful. Drowsiness and loss of = coordination are=20 common side effects. The beneficial effects of clonazepam may = diminish=20 over time if the patient develops a tolerance for the drug.

Many of the drugs used for myoclonus, such as barbiturates, = phenytoin,=20 and primidone, are also used to treat epilepsy. Barbiturates slow = down the=20 central nervous system and cause tranquilizing or antiseizure = effects.=20 Phenytoin and primidone are effective antiepileptic drugs, = although=20 phenytoin can cause liver failure or have other harmful long-term = effects=20 in patients with PME. Sodium valproate is an alternative therapy = for=20 myoclonus and can be used either alone or in combination with = clonazepam.=20 Although clonazepam and/or sodium valproate are effective in the = majority=20 of patients with myoclonus, some people have adverse reactions to = these=20 drugs.

Some studies have shown that doses of 5-hydroxytryptophan = (5-HTP), a=20 building block of serotonin, leads to improvement in patients with = some=20 types of action myoclonus and PME. However, other studies indicate = that=20 5-HTP therapy is not effective in all people with myoclonus, and, = in fact,=20 may worsen the condition in some patients. These differences in = the effect=20 of 5-HTP on patients with myoclonus have not yet been explained, = but they=20 may offer important clues to underlying abnormalities in serotonin = receptors.

The complex origins of myoclonus may require the use of = multiple drugs=20 for effective treatment. Although some drugs have a limited effect = when=20 used individually, they may have a greater effect when used with = drugs=20 that act on different pathways or mechanisms in the brain. By = combining=20 several of these drugs, scientists hope to achieve greater control = of=20 myoclonic symptoms. Some drugs currently being studied in = different=20 combinations include clonazepam, sodium valproate, piracetam, and=20 primidone. Hormonal therapy also may improve responses to = antimyoclonic=20 drugs in some people.

What research is being done?

Scientists are seeking to understand the underlying biochemical = basis=20 of involuntary movements and to find the most effective treatment = for=20 myoclonus and other movement disorders. The National Institute of=20 Neurological Disorders and Stroke (NINDS), a unit of the Federal=20 Government's National Institutes of Health (NIH), is the agency = with=20 primary responsibility for research on the brain and nervous = system.

Investigators at NINDS laboratories are evaluating the role of=20 neurotransmitters and receptors in myoclonus. If abnormalities in=20 neurotransmitters or receptors are found to play a causative role = in=20 myoclonus, future research can focus on determining the extent to = which=20 genetic alterations are responsible for these abnormalities and on = identifying the nature of those alterations. Scientists also may = be able=20 to develop drug treatments that target specific changes in the = receptors=20 to reverse abnormalities, such as the loss of inhibition, and to = enhance=20 mechanisms that compensate for these abnormalities. Identifying = receptor=20 abnormalities also may help researchers develop diagnostic tests = for=20 myoclonus. NINDS-supported scientists at research institutions = throughout=20 the country are studying various aspects of PME, including the = basic=20 mechanisms and genes involved in this group of diseases.

Where can I get more information?

For more information on myoclonus, you may wish to contact:

Myoclonus Research Foundation
200 Old Palisade Road =
17D=20
Fort Lee, NJ 07024
research@myoclonus.com =
http://www.myoclonus.com/
Tel: = 201-585-0770
Fax: 201-585-8114

Worldwide Education & Awareness for Movement Disorders = (WE=20 MOVE)
204 West 84th Street
New York, NY 10024
wemove@wemove.org
http://www.wemove.org/
Tel: = 800-437-MOV2 (6682) 212-875-8312
Fax: 212-875-8389

For information on other neurological disorders or research = programs=20 funded by the National Institute of Neurological Disorders and = Stroke,=20 contact the Institute's Brain Resources and Information Network = (BRAIN)=20 at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
(800)=20 352-9424
http://www.ninds.nih.gov/=20

Prepared by:
Office of Communications and Public=20 Liaison
National Institute of Neurological Disorders and=20 Stroke
National Institutes of Health
Bethesda, MD=20 20892

NINDS health-related material is provided for information = purposes only=20 and does not necessarily represent endorsement by or an official = position=20 of the National Institute of Neurological Disorders and Stroke or = any=20 other Federal agency. Advice on the treatment or care of an = individual=20 patient should be obtained through consultation with a physician = who has=20 examined that patient or is familiar with that patient's medical=20 history.

All NINDS-prepared information is in the public domain and may = be=20 freely copied. Credit to the NINDS or the NIH is = appreciated.

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