DystoniaWhat are movement disorders?Movement disorders are conditions that causeinvoluntary body movements. With allmovement disorders, abnormal signals from thebrain cause patients to have trouble controllingtheir muscles.

There are several different types of movementdisorders that affect people in different ways.Dystonia, Parkinson's disease, tics and Tourettesydrome are all movement disorders.

What is dystonia?Dystonia (say: diss-TOE-nee-uh) is a movementdisorder that causes sustained musclecontractions. In a person with dystonia, themuscles tense up, often causing twisting andrepetitive movements or abnormal postures. Insome children, the movements may be painful.There are several different types of dystonia,each with its own characteristics.

The condition can vary from very mild tosevere. Dystonia may get worse over time or itmay stay the same or get better.

Some children are born with dystonia. Dystoniamay also appear as a child or an adult gets older.

How much of the body and how many musclesare affected by dystonia can varyIn some children, only one part of the body isaffected; in other children, several or many partsare affected. How dystonia is treated and theprospects for recovery depend on the type ofdystonia and how severe the case is.

Nervous System

Dystonia begins in the brainLike all movement disorders, dystonia is aneurological condition. This means the problembegins in the brain, which sends abnormalsignals to muscles in the body. These signalscause the uncontrolled movements.

What causes the brain to send these signals isnot fully understood. However, we do know thatdystonia can have both genetic andenvironmental causes.

Sometimes, children with dystonia also haveother neurological problems. These otherneurological problems may affect a child's

ability to think. In other cases, only muscles andmovement are affected.

Diagnosing dystoniaSymptoms of dystonia may appear at any agefrom young toddlers to older children.Symptoms are usually mild at the beginning andgradually get worse. Very rarely, symptomsappear abruptly and severely.

At first, parents usually notice problems withtheir child's legs. A child may seem clumsy, andmay fall or trip a lot. A child may start walkinglater than normal and may have trouble keepingup with other kids.

In some children, dystonia progresses though theday; in the morning they have a surprisingamount of control over their muscles, but in theevening the symptoms are severe.

If your child's doctor suspects your child mighthave dystonia, your child will be examined by aneurologist. A neurologist is a doctor whospecializes in brain and nerve and musclefunction. This doctor will check your child'sbones, joints, and muscles. Reflexes andsensations (feeling) will also be checked.

Other conditions can also cause symptomssimilar to dystonia. To diagnose dystonia, thedoctor will need to consider these otherconditions.

Classifying dystoniaPart of diagnosis is finding out what type ofdystonia a child has. This is important becausethe type of dystonia will help determine whichtreatments may work best. Also, different types

of dystonia will progress in different ways overtime.

In general, dystonia is classified in three ways:

by the cause (etiology)by how old the child was when it appeared(age of onset)by where and how much dystonia affects thebody (somatic distribution)

CausePrimary dystonia is caused by an underlyinggenetic mutation. Idiopathic generalizeddystonia and dopa-responsive dystonia (DRDor Segawa's disease), are two types ofprimary dystonia.Secondary dystonia has environmentalcauses. This means the brain has been injuredby exposure to a toxin or drug, a stroke,infection, or other trauma.

Age of child when symptoms first appearchildhood onset: younger than 12 years oldadolescent onset: between 13 and 20 yearsoldadult onset: older than 20 years

Where and how much of the body is affectedFocal: Only one part of the body, such as theleg, is affected.Segmental: Two adjacent parts of the bodyare affected, such as the head and neck.Hemi-dystonia: Different parts on the sameside of the body are affected, such as the lefthand and left foot.Multi-focal: Two non-adjacent areas areaffected, such as the left leg and right arm.

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Generalized: Multiple parts of the body areaffected, such as both arms and one leg.

How dystonia progressesHow dystonia progresses, or how it is expectedto progress, is another way it is classified.Dystonia may remain static, meaning that it doesnot get better or worse. Or it may beprogressive, meaning that the condition getsworse over time.

Treatment of dystoniaHow dystonia is treated depends on the type andseverity of the condition, and on the patient.Some dystonias respond well to differenttreatments. Other dystonias may have few orvery poor options for treatment.

In general, there are three ways to treat dystonia:

oral medicines (medicines that are taken bymouth)injections of Botulinum toxin (Botox)surgery

Oral medicinesAll medicines for dystonia have side effects, andthey must be used carefully according to yourdoctor's instructions. For more information,please speak to your doctor or pharmacist.

Levodopa and carbidopaMany children with dystonia are first given atrial of a medicine called levodopa (L-dopa).Levodopa often works well at restoring musclecontrol for dopa-responsive dystonia (DRD).Some patients with other types of dystonia canalso show some improvement with thismedicine.

Sometimes, levodopa is combined with amedicine called carbidopa. Both these medicinesincrease dopamine in the brain. Dopamine is aneurotransmitter that regulates movement.

These medicines may produce side effects suchas skin flushing, a drop in blood pressure, andnausea, among others.

Other oral medicinesOther medicines can also be used to treatdystonia. They include:

trihexyphenidyl and other anticholinergic(say: an-tee-call-in-URGE-ic) medicines,which act on neurotransmittersbaclofen, a muscle relaxantclonazepam, a benzodiazepine that acts as amuscle relaxant and sedative

In more severe cases, a combination of thesemedicines may be used.

Injections of Botulinum toxin (Botox)Most people know Botox injections can be usedto reduce wrinkles. Because Botox works bytemporarily paralyzing tissues around aninjected area, it can also be used to treatdystonia.

Botox injections are the treatment of choice formost forms of focal dystonia. However, theseconditions are not frequently seen in children. Inchildren, botulinum toxin is used in generalizeddystonia patients when targeting a certain part ofthe body. It is often used when there is spasticityas well as dystonia, particularly in the legs.Spasticity means the brain is constantly tellingthe muscles to tighten or contract.

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The effect of Botox injections usually lastsabout 3 to 4 months. After this, more injectionswill be needed.

Note that Botox injections are limited in whatthey can accomplish. If too many places areinjected, for example, the child can temporarilylose control of movement altogether.

Surgical treatment of dystoniaIf dystonia does not respond to other treatments,the neurologist may suggest a surgical treatment.

Intra-thecal baclofenPatients with generalized dystonia may betreated with intra-thecal baclofen (ITB). Like theoral medicines discussed above, baclofen is amedicine that relaxes muscles by acting onneurotransmitters in the brain.

Intra-thecal baclofen is given though a catheter(a tiny tube) that is surgically placed (implanted)in the spine. The catheter is attached to a pumpthat is implanted in the soft tissue of theabdominal wall. After the operation, the pump isprogrammed to deliver a continuous amount ofbaclofen.

The treatment can be effective for most people,but for about 1 in 10 patients (10%), thetreatment will stop working within the first year.

Complications of ITB may include:

infectiondecreased head and neck controldrowsinessleakage of cerebral spinal fluid (CSF)catheter or pump malfunction

baclofen withdrawaloverdose

These complications can be very dangerous.Patients and families must learn about the signsand symptoms for these complications, so thatthey can seek medical attention as soon aspossible.

Deep brain stimulationDBS is a relatively new treatment for children. Ittends to work best on the genetic (primary)forms of dystonia but also works in other formsof dystonia.

Deep brain stimulation (DBS) controls dystoniaby putting a small amount of electricity into thebrain through tiny electrodes. The electrodes areattached to a battery. The brain is not surgicallyopened; instead, a tiny hole is made in the skull.

Sometimes, it can take several months for thetreatment to become effective. Often, the effectimproves over a period of 6 months to a year.Children who are still growing need treatmentbefore the dystonia causes permanent bonedeformities.

Complications of DBS may include:

mechanical problems such as broken wires,displaced electrodes, or battery failureinfectionsbleeding in the brainstrokedeath (rare)

A few cases with psychiatric issues likedepression and suicide have also been reported.

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These complications can be very dangerous.Patients and families must learn about the signsand symptoms for these complications, so thatthey can seek medical attention as soon aspossible.

What to expect in the futureTypically, when dystonia is diagnosed in a child,the condition can slowly but steadily gets worseover time. This does not mean that a patient'smental capacity will also get worse. In otherwords, other parts of the nervous system, may ormay not be affected.

However, there are many different types ofdystonia. There is no one set way the conditionprogresses. Ask your child's doctor what youcan expect.

Key pointsDystonia is a movement disorder that causesmuscle control problems.There are many different types of dystonia,some mild, some severe.Dystonia can gets worse over time.There are several different types oftreatments that can reduce the effect of manydystonias.

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What are movement disorders?What is dystonia?How much of the body and how many muscles are affected by dystonia can vary

Dystonia begins in the brainDiagnosing dystoniaClassifying dystoniaCauseAge of child when symptoms first appearWhere and how much of the body is affectedHow dystonia progresses

Treatment of dystoniaOral medicinesLevodopa and carbidopaOther oral medicines

Injections of Botulinum toxin (Botox)Surgical treatment of dystoniaIntra-thecal baclofenDeep brain stimulation

What to expect in the futureKey points