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This is to pass along some information found on news posting.
What is Dystonia?
Dystonia is both a symptom and the name for a group of illnesses, best
called the dystonias.  The symptom, or physical manifestation, consists of
sustained, involuntary contractions of the muscles in one or more parts of
the body.  This often results in twisting or distortion of that part of the
body.  The disorder is secondary to central nervous system dysfunction,
probably in those parts of the brain called the basal ganglia.  In primary,
uncomplicated dystonia, there is not alteration of consciousness,
sensation, or intellectual function.  Dystonia may be accompanied by
tremor, sometimes resembling the tremulousness usually seen in older
individuals or by tremor with a harsh, irregular jerking quality.   There
are numerous classifications of dystonia, some dependent on regions of the
body involved, others on whether the cause is unknown (primary or
idiopathic) or secondary to injury, toxins or other central nervous system
illness.  At present, the best working classification is as follows:
1. Idiopathic torsion dystonia (ITD) (dystonia musculorum deformans,
generalized dystonia).  This type typically starts in one part of the body,
usually in a foot or leg.  After walking or other exercise, the foot may
turn under so the person walks on the outer edge of the foot.  ITD usually
starts in childhood.  It often spreads to other parts of the body,
including the back, neck, or arm.  It is inherited in an autosomal dominant
manner or is occasionally sporadic.  See Is Dystonia Inherited.
2. Other inherited dystonias, including dopa-responsive dystonia and
x-linked dystonia-parkinsonism.  Dopa-responsive dystonia is sometimes
called Segawa's dystonia since it was first described by Dr. M. Segawa in
Japan.  Affected individuals have now been seen in the United States,
Canada, Great Britain, and elsewhere in Europe.  It typically starts in
childhood or young adult life and is often accompanied by mild rigidity and
awkwardness suggested by Parkinson's disease.  Treatment with dopa may
almost completely relieve the symptoms.  This effectiveness lasts
indefinitely.  X-linked dystonia-parkinsonism is a form of dystonia found
in Filipino males.  It also has certain features of parkinsonism.  It tends
to progress and results in incapacity.
3. Secondary dystonia.  In this type of dystonia, the dystonia is secondary
to small areas of brain damage or scarring.  This can be caused by reduced
oxygen before, during, or shortly after birth (cerebral palsy), by injury
to the brain, particularly in infancy or childhood, or by small strokes.
Dystonia can also be secondary to small areas of damage related to multiple
sclerosis, secondary to encephalitis, or secondary to a great many other
illnesses affecting the nervous system, including Wilson's disease
(helpatolenticular degeneration).
4. Focal dystonia such as writer's cramp, blepharospasm, spasmodic
torticollis, orofacial-buccal dystonia, and laryngeal dystonia.  Writer's
cramp is a focal dystonia of the hand in which the hand and forearm muscles
contract during the act of writing.  The hand may be drawn up so tightly it
cannot move.  As soon as the writing instrument is removed from the hand,
the hand relaxes.  A similar cramp may arise in a musician as the violin is
bowed or certain fingers are moved in playing a flute or other instrument.
In blepharospasm the eyelids close tightly for many minutes or even hours.
This may be precipitated by exposure to sunlight, touching the eyelids, or
by anxiety.  It, too, is a form of focal dystonia.
Spasmodic torticollis (cervical dystonia) is a focal dystonia in which the
neck muscles contract to turn the head to one side or pull it forward or
backward.  Sometimes this is accompanied by harsh, jerking head movements.
It is often partially relieved by a gentle touch on the chin other parts of
the face.
Orofacial-buccal dystonia is sometimes called Meige's syndrome.  The
muscles of the lower face irregularly pull or contract.  Sometimes the jaw
muscles that pull the mouth open or closed are involuntary.  Sometimes the
superficial neck muscles contract.  Usually blepharospasm is also present.
Laryngeal dystonia or dysphonia is a focal dystonia involving the muscles
inside the larynx or voice box.  In laryngeal dystonia of the adductor
muscles, the vocal cords are drawn tightly together, particularly when the
person tries to talk.  The voice has a strained, hoarse, whispered quality.
Sometimes the person has difficulty breathing,  In laryngeal dystonia of
the abductor type, the vocal cords are pulled apart and the voice has low,
breathy quality; sometime the person cannot speak at all.
Hemifacial spasm is not strictly a form of dystonia.  In this disorder, the
muscles on one side of the face irregularly contract.  Sometimes this is
secondary to previous inflammation or injury to the facial nerve.
What Goes Wrong in Dystonia?
Pulling and twisting of the muscles are due to disturbed functions of the
central nervous system.  It is highly likely the key part of the brain
involved in dystonia is the basal ganglia.  The basal ganglia are a group
of several interconnected structures in the center of the brain.  When
dystonia is secondary to certain injuries or small strokes, we often find
lesions (area of damage) in the putamen, one nucleus in the basal ganglia,
as well as in certain nearby structures.  Changes in the putamen can be
seen in life with the aid of magnetic resonance imaging (MRI) and computed
tomography (CT), and after death by microscopic examination of the putamen
and related structures.  Even though we can see no microscopic
abnormalities of the brain in the great majority of cases of dystonia,
including those with idiopathic torsion dystonia, the evidence is so clear
in secondary dystonias that we believe the same part of the brain is
involved in all types.  Since there are not anatomical changes to be seen
in these other forms of dystonia, we conclude the dysfunction is chemical.
We do not yet know the specific nature of the chemical dysfunction.  If the
main abnormality in most cases turns out to be chemical, the has major
treatment indications.  One day it may be possible to replace the deficient
chemical  or to block certain chemically mediated connections between nerve
cells.  In contrast, we can do little if the defect is anatomical or
structural, since we don't yet know how to repair or to replace nerve
cells.  Newer surgical approaches may, however, provide benefit.
Can One Predict the Course of Dystonia?
Predicting the progression of dystonia is uncertain.  We can say that if
dystonia affects other members of the family, and if the dystonia starts in
childhood, it tends to get worse over the years.  However, even in these
cases there are well-known instances of the progress being arrested or of
actual partial or complete recovery.  These instances are rare, are they
certainly remind us to keep hoping.
If the illness starts in childhood and is secondary to cerebral palsy or
other brain injury close to the time of birth, the dystonia tends to remain
static for many years.  There are a few examples of dystonia secondary to
cerebral palsy in which the dystonia may worsen in adult life, but these
cases are quite rare.  When dystonia begins as an adult, it is usually one
of the focal forms and tends to remain limited to that part of the body.
Is Dystonia Inherited?
In many instances the hereditary aspects of dystonia are clear.  The major
strides in knowledge of dystonia in the last decade has been in this area.
We can now say that dystonia is inherited in Ashkenazic Jewish families
and in a number of non-Jewish families.  It is passed on in an autosomal
dominant manner with variable penetrance.  Dominant means that each child
of a parent who carries the abnormal gene has a 50/50 chance of inheriting
that gene.  When a person has the gene, he or she may show clinical signs
of the disease (penetrance) or may show no symptoms at all, even though the
gene is present.  Penetrance in the affected Jewish population is about
30%.  In certain affected non-Jewish families such as Great Britain, is
around 40%.  In one large non-Jewish family studied in up-state New York,
the penetrance was around 80%.  Another aspect to the inheritability is
that the severity of the illness may differ markedly within a family.  For
example, the affect mother may have mild dystonia, one of her children may
have severe generalized dystonia, while another may have mild focal
non-progressive dystonia.  And we have to remember that in the same family
there may be still another child who is actually carrying the gene, has no
symptoms at all, but who can pass it on to his/her children.  In torsion
dystonia of the Jewish type and in at least one large non-Jewish family,
Dr. Xandra Breakefield and colleagues in Boston, with clinical support of
Dr. Stanley Fahn and colleagues in New York, have localized the gene to a
small region of chromosome 9.  The gene itself has not yet been identified,
but there is strong reason to believe this will take place in the near
future.  Once the gene is found, the next step will be to learn it role,
probably the manufacture of a protein which affects the function of certain
nerve cells.  The following step will be to find out how to replace the
missing protein or how to block a certain pathway that results in making
too much of an abnormal substance.
The Diagnosis of Dystonia
Dystonia is a relatively rare illness and one that has unusual movements or
posturing and that in its early stages may be influenced by stress or the
emotions.  Many doctors have never seen a case, even in medical school.  As
some readers of the pamphlet already know, it is often difficult to find a
doctor who has sufficient knowledge and experience to make the correct
diagnosis.  If the reader of the pamphlet or the doctor has a suspicion
that the patient may have dystonia, the best course is to consult a
neurologist who is an expert in movement disorders.  Most universities and
most big cities have such individuals; many smaller communities do not.
For a referral, consult a local chapter of the Dystonia Medical Research
Foundation or the Foundation Headquarters in Chicago.
What to Do if the Diagnosis of Dystonia is Made?
If the diagnosis of dystonia is being considered, the first thing to do is
to carefully review one's family tree, look for individuals who have focal
or generalized dystonia.  Even the least bit of "wryneck" (torticollis)
should be noted.  So should any kind of tremor.  This information will be
crucial for meaningful genetic testing, a procedure that will be available
in a short time.  Second, one should consider what type of medical therapy
is in order.  Here the neurologist with considerable experience in dystonia
should be your major guide.  Many medicines are available but only a few
may work on one individual.  Any single medication may prove to be
moderately effective or mildly effective or no help at all.  However,
persistence in trying one medicine after another may pay off.  Some of the
medicines your doctor might consider include: Artane (trihexyphenidyl),
Cogentin (benztropine), Valium (diazepam), Klonapin (clonazepam), Lioresal
(baclofen), Tegretol (carbamzepine), Sinemet or Madopar (levodopa),
Parlodel (bromocriptine), Symmetrel (amantadine).  Nitoman (tetrabenazine)
is often effective, but it is not available in the United States.
Thorazine (chlorpromazine) and Haldol (haloperidol) and other medicines of
the phenothiazine or butyrophenone groups may help but may produce a side
effect called tardive dyskinesia and should be used with great caution.
For focal dystonias including blepharospasm, Meige's syndrome, spasmodic
torticollis, an laryngeal dystonia, botulinum toxin injections have become
a very useful treatment.  It is useful if the dystonia involves only a
limited group of muscles.  The treatments should be performed only by
doctors who have considerable experience in its use.  Laryngeal dystonia is
the most difficult to treat, and particular care should be taken in
selecting a qualified doctor.  Several kinds of surgery may be useful in
dystonia.  This should be considered only if medications have failed to
help and only if the severity of dystonia is great.  Dr. Claude Bertrand in
Montreal and those he has trained have developed a very helpful operation
for spasmodic torticollis in which multiple nerve roots are cut as they
exit from the spinal cord in the neck or at the point where nerve branches
enter the pulling muscles.
Another operation known as stereotaxic thalamotomy, in which small areas of
damage are intentionally made to interrupt certain pathways in the brain,
is occasionally very helpful in severe generalized or one-sided, secondary
dystonia.  Initial success is not infrequently followed by a partial return
of the dystonia.  Only neurosurgeons with extensive experience in the
particular type of operation, should be consulted.
What Can You Do if You have Dystonia?
Dr. David Marsden offers the following wise advice: "Your attitude to this
illness will be one of the most important factors in deciding how it
affects you.  Dystonia won't kill you but, if you let it get you down, it
may spoil your life.  It is quite natural, when you learn of the nature of
the illness, to go through stages of shock, anger, despair, and depression,
and then acceptance.  This evolution may take time, but you must work
positively to the final stage of acceptance as far as possible the fact of
your illness, and then seeing how to get around it.  Talk to your family
and your doctor about these problems."  You may find help in learning from
others who have dystonia.  The Foundation keeps current the list of local
chapters and support groups. You will find others who have gone through
many of your struggles and are willing to help.
What is Being Done about Dystonia?
There is a great deal of research going on now, much of it being funded by
the Dystonia Medical Research Foundation.  Some research is being funded by
the National Institutes of Health, but more money for research from all
sources is needed.  Major advances in the last decade have been due to a
combination of research dollars and scientists who do the work.  It is
probable that a similar investment of time and money in the next few years
will actually lead to a cure or something approaching it.
How Can You Help?
Would you like to reach out and help solve the problems of dystonia?  You
might get in touch with the university of medical research center near you.
They may have some research program you might like to join.
Lastly, one of the most valuable things you could do would be to donate
your brain for research at the time you die.  We all must die.  It is
possible for part of us to live on if we donate our corneas so that
somebody else might see or our kidneys so that somebody else may live.  Our
donated brains cannot live in someone else, but knowledge obtained from
them may help the lives of others, including our children.  There are so
few brains available of individuals who have had dystonia, and the demands
of researchers for such tissue is so great.  If you wish to help out in
this way, when you die 5 or 50 years from now, consider writing now to the
Dystonia Medical Research Foundation.
Dystonia Medical Research Foundation, One East Wacker Dr., Suite 2430,
Chicago, IL 60601-2001, Phone 312-755-0198, Fax 312-803-0138, e-mail
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Ron  <[log in to unmask]> Ronald F. Vetter