Tools For Viewing
10 The Most Commonly Asked Questions
Clinical Trials & Research
Huntington's Disease~WeMove Info
Advocacy/Donations/Press Info
Clinical Definition & Search
Facing HD~Family Handbook
JHD Handbook-Chapter 1
JHD Info-Stanford Univ.
Physician's Guide To HD
Caring for People with HD
Physical & Occupational Therapy In HD
Understanding Behaviour in HD-Dr. Jane Paulsen
Understanding Behavioral-Dr. Edmond Chiu
Advanced Stages Caregivers Handbook
First Shift-Certified Nursing Assistants
Activities of Daily Living-HD
Unified HD Rating Scale (UHDRS) Motor Section
Westphal Variant
Age & Probability Chart
At Risk For HD-What Next?
At-Risk Checklist
Best Interest of Child?
Crystal Ball?
Food For Thought
Parent Hasn't Tested?
Q&A On Risk of Inheriting JHD
Testing Children
Genetic Disorders & Birth Defects
Genetic Testing for HD
Genetic Counseling-In General
Psychological Impact
Intro: Genetics/Genetic Testing
Prenatal & Preimplanation
Prenatal Testing-In General
o Genetic Testing Resources
o Personal Stories
Coping With The Early Years
Age of HD Appearance
Age of Onset-Historical
Family-HD Underestimated
Children of Parents With HD
Child~Parent Ill
Clinical Description JHD
HD - What Kids Are Saying
HD & Me
JHD-Duration of Illness
JHD-Clinical and Research
JHD Symptoms
Parenting With HD
Patients/Families Coping
Talking With Children About HD
5 Stages of HD
JHD Resources
Parent Resources
8 Fears of A Chronic Illness
Anxiety, Fears & Phobias
Apathy-Physician's Guide
Attention-Perceptual/Unawareness Physician's Guide
Bed/Pressure Sores
Bed/Pressure Ulcer Guideline
Behavior Management
Bi-Polar Disorders
Botulinum toxin therapy
Caring Tips
Child Abuse-Reconizing Signs
Chorea-Physician's Guide
Cognitive/Decision Making/Impulsivity
Cognitive-Short Tips
Contractures~Joints Locking
Dehydration-Physician's Guide
Denial of HD
Depression~Physician's Guide
Depression-Understanding It
Depression-How To Help
Depression - Treatment Resistant Patient
Depression-Other Resources
-Read If Your Child Is On Antidepressant
Disgust - Impaired Recognition in HD
Dissociative disorders
Driving - Physician's Guide
Dyslexia Resources
Dystonia/Rigidity & Spasticity Physician's Guide
Dystonia-Predominant Adult-Onset HD
Epileptic Seizures and Epilepsy
-Seizures ~Special Populations
Falling - Subdural Hematoma Risk
Fevers - Unexplained
Fevers, sweating & menstural cycles in HD
GERD (Stomach)
HD Principle Treatments
Hand muscle reflexes in HD
Hypothalamus - A Personal Theory
Insomia ~Physician's Guide
Irritability~Temper Outburst Physician's Guide
Learning Disability
Mania/OCD~Physician's Guide
Mood Disorder Rate In HD
Myoclonus (Movements)
Nails-What To Look For
Night Terrors
Obsessive Compulsive OCD
Panic Disorder
Personality disorders
Pneumonia-Advanced Stages
Pneumonia - Aspirated (Inhaled)
Prosody - Social Impairment
Sexuality~Physician's Guide
Skins Sensitivity
Sleep Disorders
Smoking-Physician's Guide
Why Certain Symptoms Occur
Symptom & Treatment Resources
Communication Resources
Communication Problems
Communication Strategies For HD~Jeff Searle
Hints For Weight Loss in HD
HD & Diet~HSA Fact Sheet 7
Nutrients: Some Possible Deficiency Symptoms
Nutrition and HD~Anna Gaba (Recipes)
Nutrition Information In HD~Naomi Lundeen
Speech & Swallowing~Lynn Rhodes
Swallowing & Nutrition Physician's Guide To HD
Swallowing & Nuitrition Resources
Swallowing Warning Signs
5 Swallowing Problems
Taste changes in HD
Weight Gain
-Feeding Tubes~Advanced Stages of HD
-Feeding Tube~Jean Miller
-Feeding Tubes: One More Word ~Jean Miller
-Feeding Tubes & Baby Foods
-Feeding Tube~Dental Care
-Feeding Tube Instructions~Jean Miller
-Feeding Tube Resources
Finding a Therapist - Behavoir
What Is A Physiotherapist?
Physical Therapy In HD
Speech-Language Therapy
Therapy Descriptions
Therapy Resources- Easter Seal
Therapy Resources
HD Treatments
Medications-Movement Disorders
Medication/Emergency Info Forms
Cutting Prescriptions
Drugs-Look 'Em Up
-Adolescents Under 25
-Antidepressant Adverse Effects
A-Z Mental Health Drugs
-EPA~Fish Oil
-Haldol/Haloperidol - Clinical Sheet
-Haldol~Clinician Description
-Haldol & HD
-Haldol/HD Patient Experiences
-Haldol~ Patient Handout
-Mood Stabilizers: ASK 3 Questions
-Neuroleptic Malignant Synd WARNING
-Olanzipine-Risperidone/blood tests
-Psychiatric Drugs & Children
Sertraline ~Zoloft
-Spasticity Meds/Treatments
-SSRI Medications
-Tardive Dyskinesia WARNING
-Weight Gain Medications
-Sites/Help the Medicine Go Down
-Vitamin & Mineral Deficiencies
Surgery-Movement Disorders
o Surgery Resources
Clinic Visits-How To Prepare
CT Scans, MRI's etc.
Swallowing Tests
Tests Commonly Used
o Procedures Resources
Alcohol-Parent's Guide
Alcohol-Talking To Your Child
Drugs-What To Do?
Drugs-Talking To Your Child
Disciplining-Ages 0-13 & Up
Straight Talk On Suicide
Teen Suicide-You Need To Know
o Suicide Resources
Divorce & Child Stress
Tips For Divorcing Parents
Guides To Disability Issues
Caring-Child & Medical Technology
Caring for a Seriously Ill Child
Child Long Term Illness
Disability-Special Education Plan
IFSP Early Intervention Process
Disability Resources
Financial Planning
Wishes Can Come True-Children's Wish Foundations
Special Needs Resources
Special Needs Camp - About
Special Needs Camp - Finding One
Child Assistive Technology
Adaptive Equipment Resources
Signs of Unhealthy Self-Esteem
Emotional Behavior Links
o Emotional Support Resources
Helping Child Deal With Death
o Grief Addtional Resources
ADD & Teens
Conduct Disorders
FAQS & Related Info
Understanding AD/HD
What Is AD/HD?
Research Articles
HD Support Groups
National Youth Association
HD Links
Related Resources
Tips For Friends
HD Disability
Benefits Check UP - See What You Can Get
Medical Insurance Bureau's Facts On You!
Medicare Rights-Home Health & Hospice
Medicare Rights Center Resources
No Insurance? Try This!
Prescription Drug Cards Part I
Prescription Drug Cards Part II
Social Security-Children With Disabilities
Caregiver Self-Assessment
Caregiver's Handbook
"First Shift With A Person With HD"
Getting Respite Care/Help At Home
Helpful Forms-Info
Home Emergency Preparations
Symptom Management
Ten Tips
Useful Tools
Our Personal Experience
Coping At The End
Kelly E. Miller
Song & Verse
Letter From My Heart



Dystonia is usually defined as "a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements, or abnormal postures." (Fahn et. al., 1987) In fact, the muscle contractions related to dystonia may be quite rapid and not sustained; the movements may not be repetitive and not lead to fixed postures.
Dystonia may be considered as the production of one pattern of muscle activity when a different pattern was intended.
Therefore, it is a proven challenge to establish a single definition of dystonia. An alternative definition is to consider dystonia as the production of one pattern of muscle activity when a different pattern was intended. This emphasizes the fact that dystonia usually occurs only during voluntary movement or with voluntary maintenance of a posture of the limbs or body. For example, attempted flexion of the fingers to hold a pen may lead to flexion of additional fingers, extension of the wrist, or movements of the opposite hand.

Characteristic postures that are frequently seen in dystonia include...

  • "Spooning," during which the fingers of the hand are bent backward with the wrist flexed
  • Elbow and wrist flexion with the hand held near the body
  • Foot in-turning or inversion at the ankle, which is frequently pronounced with walking
  • Extension of the great toe
  • Turning of the neck or torticollis
  • Jaw or facial contortions

It is important to realize that, despite its name, there is often no abnormal muscle tone in children with dystonia. This means that, upon examination, a dystonic limb may or may not have increased resistance to movement.

Dystonia is described according to the part or parts of the body that are affected. If only one body part is involved, such as a hand, foot, or the neck, then this form is termed a "focal dystonia." If two contiguous parts are involved, such as the face and neck, then it is termed a "segmental dystonia." If two noncontiguous parts of the body are involved, such as the face and one leg, it is termed a "multifocal dystonia." If one half of the body is involved, it is "hemidystonia," and if both legs, as well as one additional body part are involved, then it is termed "generalized dystonia." A focal dystonia that progresses to become generalized or generalized dystonia itself are the most common patterns observed in children.

Dystonia may occur at rest or with action. A feature of dystonia that distinguishes it from most other movement disorders is that a dystonic movement of one limb may be triggered by an attempted movement of a different limb. For example, a dystonic posture of the right hand may occur while the left hand is performing a rapid movement, or a dystonic posture of the foot may occur during walking. The triggering movements may be very specific; for example, walking forward may be a trigger, while walking backward may not be a trigger. In adult focal, task-specific dystonias, the trigger may be as specific as writing or playing an instrument; this type of task-specific dystonia occurs only rarely in children.

When dystonia is due to another identified disease, then it is called "secondary dystonia." When dystonia is not due to another disease, it is termed "primary dystonia." Primary dystonia includes the genetic dystonias and some adult-onset, focal dystonias. Secondary dystonia may be due to a wide variety of causes, many of which are listed here.

The child being evaluated for dystonia must be observed at rest,
with action of the parts of the body affected by dystonia, as well
as actions unrelated to the dystonia. For example, a child with
foot dystonia must be observed while sitting, standing, walking,
and performing tasks with the hands. Mental distraction is also
helpful; when possible, the evaluator may use language or
mathematical tasks to distract the child.
The child should be relaxed during examination.
These types of distractions may help to determine the specific
triggers for the dystonic movements. They may also assist in
evaluating if other body parts are subtly affected when provoked
by attempted movement, stress, or distraction. It is important
to test the child during the certain activities to observe dystonia
-obstructing movement or excessive movements. These activities
  • Reaching movements of the arms
  • Speaking
  • Tongue movement
When dystonia is present at rest, it is important to examine children
when they are as relaxed as possible. Any stress or discomfort may
worsen the symptoms.
Muscle tone is not necessarily increased in children with dystonia;
however, tone may be increased and the examiner may have difficulty
in differentiating dystonia from spasticity or parkinsonian rigidity.
This determination becomes particularly difficult when dystonia and
spasticity are simultaneously present. This occurs frequently in children
with cerebral palsy. It is equally important to examine for other
movement disorders, such as ataxia or myoclonus, as this may provide
clues to a particular diagnosis.
The timing of dystonia throughout the day is important. Dopa-responsive
dystonia may improve upon awakening in the morning or after a nap;
then the symptoms may become progressively worse throughout the day.
Other forms of dystonia may be worse upon morning awakening. Dystonia
is usually not present during sleep. Continued stiffness of the limbs
during sleep suggests possible spasticity or fixed joint contractures.
There are several genetic causes of dystonia that may have autosomal
dominant inheritance. Therefore, a thorough family history of dystonia or
other neurological diseases is very important. The history of the onset
of dystonia is useful, but occasionally confusing as dystonia may start
many years after the causative event. As always, a toxin exposure or
chronic use of certain medications (particularly neuroleptics and other
psychiatric medications) must be investigated. Such medicines may cause
 dystonia even after they have been stopped.
The mechanism of dystonia is one of the most poorly understood issues
in movement disorders. Studies in humans and animals have not been
able to find a good explanation that can relate particular injuries to the
emergence of dystonic symptoms. Dystonia is frequently associated with
injury to the basal ganglia, in particular the sensory-motor regions of the
putamen. In children, dystonia may also occur with decreased dopamine
as occurs in dopa-responsive dystonia (DRD) or in response to dopamine
-blocking medications.

Understanding the role of dopamine remains elusive.

In adults with dystonia, measurement of the cellular activity in
the basal ganglia shows that these cells often respond to
movements of multiple limbs. This suggests that there is confusion
or "cross-talk" between different body parts. It is possible that
this confusion relates to the involuntary activation of normally
suppressed muscles. Human and animal research has shown that
for adult-type focal dystonia, there is also confusion of the cell
responses in cerebral cortex. Therefore, it is possible that
abnormalities in the cortex may be one of causes of dystonia.
Understanding the role of dopamine remains elusive. An abnormally low
level of dopamine causes many childhood dystonias; in parkinsonism, it
is possible to cause dystonic symptoms by administering large amounts
of dopamine. On the other hand, acute dystonic reactions in children
and adults are caused by medications that selectively block the dopamine
receptors in the indirect pathway. These reactions are treated with
anticholinergic medications that may increase the effectiveness of dopamine
in both the direct and indirect pathways.
When muscle activity is recorded using electromyography (EMG) electrodes,
many children and adults with dystonia have a rapid, machine-gun-like,
staccato firing of muscle fibers. These firings are involuntary and completely
unlike the normal patterns of muscle electrical activity. In some cases, similar
rapid repetitive firing has been found in the basal ganglia. On the other
hand, this type of activity is not always found, and, in some cases of dystonia,
the involuntary muscle activity has a pattern that is essentially identical
to normal muscle activation.
Multiple genes for dystonia have been found, causing autosomal dominant
inheritance. These include...
  • DYT1 (9q34, encodes torsinA)
  • DYT4
  • DYT5 (14q22.1-2, encodes GTP cyclohydrolase I, leading to
    Dopa-responsive dystonia or Segawa's disease)
  • DYT6 (8p21-q22)
  • DYT7 (18p)
  • DYT8 (2q33-q35, causing paroxysmal non-kinesogenic
    choreoathetosis PNKC)
  • DYT9 (1p, causing PNKC and spasticity)
  • DYT10 (16p11.2-q12.1, causing paroxysmal
    kinesogenic choreoathetosis, PKC)
  • DYT11 (heterogeneous, causing familial myoclonus-dystonia)

Other genes for dystonia include...

  • DYT2 (an autosomal recessive trait)
  • DYT3 (an X-linked dystonia-parkinsonism syndrome of Lubag (Xq13)
  • There is also a familial rapid-onset dystonia-
    parkinsonism (linked to chromosome 19).
Fixed Injury/Structural:
Cerebral palsy (often with delayed onset), kernicterus, hypoxic injury, head
trauma, encephalitis, tumors, stroke in the basal ganglia (a rare result of
varicella or vascular abnormalities including Moya-Moya disease), congenital
Fahr's disease, neurodegeneration with brain iron accumulation type I (NBIA-I,
formerly known as Hallervorden-Spatz disease, 20p12.3-p13), Huntington's
disease (Westphal variant, IT15-4p16.3), spinocerebellar ataxias (SCAs),
neuronal ceroid lipofuscinoses, Rett syndrome, Tay-Sachs disease, Sandhoff's
disease, Niemann-Pick type C, metachromatic leukodystrophy, striatal necrosis,
Leigh's disease, neuroacanthocytosis, vitamin E deficiency, HARP syndrome
(hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and
pallidal degeneration), Pelizaeus-Merzbacher disease, ataxia-telangiectasia
Glutaric aciduria, acyl-CoA dehydrogenase deficiency, aromatic L-amino acid
decarboxylase deficiency, dopa-responsive dystonia or DRD (biopterin
metabolic defect DYT5, or tyrosine hydroxylase deficiency), dopamine agonist
-responsive dystonia (or ALAD: aromatic L-amino acid decarboxylase deficiency),
mitochondrial disorders, Wilson's disease, homocystinuria, GM1 gangliosidosis,
metachromatic leukodystrophy, Lesch-Nyhan disease, Niemann-Pick type C,
methylmalonic aciduria, tyrosinemia
Drug- or Toxin-induced:
(Drug- or toxin-induced dystonia may occur while taking the drug, or months
after stopping the drug.) Neuroleptic and anti-emetic medications (e.g., haloperidol,
thorazine, olanzapine, risperidone, quetiapine, compazine, etc.), calcium
channel blockers, stimulants (e.g., amphetamine, cocaine, ergot alkaloids, etc.),
anticonvulsants (e.g., carbamazepine, phenytoin, etc.), thallium, manganese,
carbon monoxide, ethylene glycol, cyanide, methanol, wasp sting
Paroxysmal kinesogenic choreoathetosis (PKC), paroxysmal non-kinesogenic
choreoathetosis (PNKC), familial periodic paralysis, exercise-induced dystonia,
complex migraine, alternating hemiplegia, paroxysmal torticollis of infancy
Disorders That Mimic Dystonia:
Tonic seizures (including paroxysmal nocturnal dystonia caused by nocturnal
frontal lobe seizures), syringomyelia, Arnold-Chiari malformation type II, atlanto
-axial subluxation, syringomyelia, posterior fossa mass, cervical spine
malformation (including Klippel-Feil syndrome), ocular skew deviation with
vertical diplopia causing neck twisting, juvenile rheumatoid arthritis, Sandifer's
syndrome (gastrointestinal disorder associated with hiatus hernia in infants),
spasmus nutans, tics, self-stimulation, spasticity, myotonia, rigidity, stiff-person
syndrome, Isaac's syndrome, startle disease (hyperexplexia), neuroleptic
malignant syndrome, psychogenic.
The investigation of dystonia depends on the specific type of dystonia. Most
hemidystonia is caused by a localized injury to the brain, often at or before
birth. Therefore, with dystonia that involves one side of the body, a magnetic
resonance image (MRI) of the head usually shows the problem area(s).

The investigation of dystonia depends on the specific type of dystonia.

In some cases, an old injury is seen as a region of damaged brain
tissue. In other cases, it appears that one side of the brain is smaller
than the other, presumably due to prior injury and loss of cells.
In many cases, dystonia is without obvious cause and the symptoms
begin before the age of 24 years, and then become progressively
worse. In these cases, there is a genetic mutation in the DYT1 gene.
If no other cause is evident, then the child should be tested for the
presence of this gene, particularly if symptoms began in the foot and
progressed to other areas of the body.
Other genetic tests may be ordered. The tests that are selected are based
on the particular symptoms and whether or not other family members are
affected. It is important to exclude metabolic causes for dystonia, as many
of these diseases are treatable. Dopa-responsive dystonia (DRD) is a rare
disorder of the enzyme pathway responsible for synthesizing dopamine.
 DRD is tested by measuring chemicals...
  • In the cerebrospinal fluid, obtained by doing a spinal tap
  • In the blood, following an oral dose of phenylalanine
    (known as the phenylalanine loading test)
Many neurologists forego testing for DRD and make a diagnosis based on
the rapid resolution of symptoms with very low doses of dopamine. Other
metabolic disorders, such as Wilson's disease, amino acid or organic acid
disorders, and lysosomal storage diseases may be tested for in certain
children. (See section on Etiologies.) An MRI is often helpful in metabolic
diseases. This imaging technique may show whether or not there is
destruction of part of the brain, a stroke, or a tumor.
Dopa-responsive dystonia (DRD) may cause a variety of motor symptoms
that mimic other disorders. It is now recommended that any child with
unexplained dystonia should receive a trial of L-dopa therapy. If the child
does have DRD, the response is often dramatic and further testing may
be arranged. L-dopa may also be helpful in some children with dystonia
due to cerebral palsy, or perhaps in other metabolic disorders or structural
The most commonly used medication for children with dystonia is trihexyphenidyl
(Artane®). Treatment with trihexyphenidyl often requires very high doses
of 50 mg to -100 mg per day, or even more in some children. If the dose is
raised very slowly, then children seem to tolerate the medicine with relatively
few side effects.
Other medicines that may have some benefit include diazepam (Valium®),
clonazepam (Klonopin®), valproate (Depakote®), baclofen, carbamazepine
(Tegretol®), reserpine, or tetrabenazine (Nitoman®). Choice of the best
regimen is usually by trial and error. It is difficult to predict which medicine
will be most effective for a particular child.
If the dystonia is particularly severe in only a few muscles (as with the focal
dystonias), it may be possible to perform injections of botulinum toxin into
those specific muscles. This toxin weakens the connection between the nerve
and the muscle, thereby weakening the muscle. There is benefit in certain
types of dystonia, with only minimal weakening of the muscle. The goal of
injections of botulinum toxin is to reduce the symptoms of dystonia, without
causing significant muscle weakness.
Toxin injections usually need to be repeated every 3 to 6 months. In younger
children, the procedure may require sedation or anesthesia. There is a long
history of the use of neurosurgical procedures to improve dystonia.
There are reports of considerable success using deep brain stimulation (DBS).
The most successful use of DBS has occurred in children who have a mutation in
the DYT1 gene. Implantation of the stimulator electrode into the globus pallidus
led to gradual resolution of symptoms over 2 to 12 months. In DBS, a
pacemaker is implanted under the skin of the chest or abdomen and a wire
runs from this pacemaker to a small hole in the skull, where it enters the brain.
Pulses from the pacemaker are used to block abnormal activities in the basal
ganglia. Results have been very successful at achieving significant improvement
in children with severe generalized dystonia.
Other neurosurgical procedures for dystonia include cutting muscles or lengthening
tendons to help reduce the effect of the dystonic muscles. There have been
reports that cutting the sensory nerves from muscles where they enter the
spine is helpful; however, this procedure is more likely to improve spasticity,
rather than dystonia.
Source:  We Move.  Visit their website at www.wemove.org/kidsmove/
Kids Move is WE MOVE's  Web site devoted to pediatric movement disorders. Healthcare
professionals and parents  may access up-to-date information about the recognition,
assessment, treatment, and avenues of support that are  available for individuals concerned
with childhood movement disorders.

Dystonia-Spasticity Treatment in children
PDF format June 2001.  Botox injections have been discussed for use in HD for spasticity
Also see "Surgery" for more information on Botox
Strategies for controlling dystonia Overview of therapies that may
alleviate symptoms Charles H. Adler, MD, PhD VOL 108 / NO 5 /
OCTOBER 2000 / POSTGRADUATE MEDICINE CME learning objectives
To become familiar with the types and causes of dystonia
To learn which diagnostic options are most appropriate in specific situations
To understand the basics of treatment, including drug therapy,
botulinum toxin, and surgery, for dystonia Dr Adler has received
research grants from Allergan, Inc, and...
Preview: Dystonia is a neurologic disorder characterized by involuntary
movements that result in twisting, abnormal postures, and repetitive
movements of a body part. The key factor that differentiates dystonia
from other movement disorders is that there is a sustained abnormal
posture that occurs at some time during the movement. This article
reviews the current understanding of dystonia and discusses workup
and treatment guidelines.

Dystonia is an involuntary movement disorder characterized by twisting,
turning, and posturing. This disorder may affect a single body part or
may be more generalized, but the pathophysiology remains unclear.
The treatment of choice for most of the focal dystonias is botulinum toxin
injections, although oral medications occasionally may be beneficial.
Surgical treatment of dystonia may be performed peripherally or centrally
but is usually reserved for patients in whom other forms of therapy fail.