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$Title{Dystonia, Torsion}
$Subject{Dystonia, Torsion Torsion Spasm Dystonia Musculorum Deformans DMD
Dystonia Lenticularis Ziehen-Oppenheim Disease The Dystonias Marie's Ataxia
Glutaricaciduria I Tardive Dyskinesia Spasmodic Torticollis Segawa's Dystonia}
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Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992
National Organization for Rare Disorders, Inc.

31:
Dystonia, Torsion

** IMPORTANT **
It is possible that the main title of the article (Dystonia, Torsion) is
not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Torsion Spasm
     Dystonia Musculorum Deformans
     DMD
     Dystonia Lenticularis
     Ziehen-Oppenheim Disease
     The Dystonias

Information of the following diseases can be found in the Related
Disorders section of this report:

     Marie's Ataxia
     Glutaricaciduria I
     Tardive Dyskinesia
     Spasmodic Torticollis
     Segawa's Dystonia

General Discussion

** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Torsion Dystonia is a neurological movement disorder characterized by
involuntary contortions of muscles in the neck, torso and extremities.
Occasionally only one or a few muscles are involved.  The disorder is most
noticeable when walking.  The involvement of several muscle groups may
produce a sideways gait and the body may twist as if writhing or distorted.
There are several types of dystonias that are characterized by involuntary
muscle spasms.  (To learn about other forms of Dystonia, type "Dystonia" as
your search term in the Rare Disease Database).

Symptoms

Torsion Dystonia is a rare hereditary neurological disorder that is
characterized by involuntary muscle contractions causing contortions of the
body.  In the early stages of this disorder these muscle contractions may be
mild.  They may also be sporadic and occur only after prolonged activity and
stress.  As the disease progresses, the painful spasms and contortions begin
to occur during physical activity, particularly walking.  In the later stages
of the disease, they may also occur at rest.  Not all cases of Torsion
Dystonia are progressive and the muscle spasms may plateau at a mild level.

Symptoms may also include foot drag, cramps in the hands and feet,
difficulty in grasping objects, and unclear speech.  The contracted tendons
and buildup of connective tissue may cause permanent physical deformities.

Causes

Torsion dystonia may be inherited as a recessive, dominant or X-linked
recessive trait.  It may also be an acquired disorder.

Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, one received from the father and one from the
mother.  In dominant disorders a single copy of the disease gene (received
from either the mother or father) will be expressed "dominating" the other
normal gene and resulting in the appearance of the disease.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.

In the autosomal dominant form of Torsion Dystonia, the muscles in the
torso and the neck are affected first.  Symptoms progress slowly, but new
muscle groups may be involved well beyond adolescence.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene for the same trait from each parent.  If one
receives one normal gene and one gene for the disease, the person will be a
carrier for the disease, but usually will not show symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.

In the autosomal recessive form of Torsion Dystonia, muscle contractions
of the feet and hands typically appear in childhood or adolescence.  Symptoms
spread quickly to involve the trunk and extremities, but progression slows
after adolescence.  This form of the disorder is usually more severe than the
autosomal dominant form.

X-linked recessive disorders are conditions that are coded on the X
chromosome.  Females have two X chromosomes, but males have one X chromosome
and one Y chromosome.  Therefore, in females, disease traits on the X
chromosome can be masked by the normal gene on the other X chromosome.  Since
males only have one X chromosome, if they inherit a gene for a disease
present on the X, it will be expressed.  Men with X-linked disorders transmit
the gene to all their daughters, who are carriers, but never to their sons.
Women who are carriers of an X-linked disorder have a fifty percent risk of
transmitting the carrier condition to their daughters, and a fifty percent
risk of transmitting the disease to their sons.

An X-linked recessive form of Torsion Dystonia had been described in
which the initial symptom is spasmodic eye blinking.

A chromosome marker for one hereditary form of Dystonia has been
identified.  This 1989 discovery has pointed to the location of a gene on the
long arm of chromosome 9 at q32-34 in one inherited form of the disease.
More research is needed to locate the exact gene and other genes that cause
several types of dystonia and to develop genetic tests for these disorders.

Torsion Dystonia acquired as result of brain injury due to infection,
trauma, birth injury, or stroke frequently involves only one side of the body
(unilateral) and is generally nonprogressive.

Affected Population

The autosomal recessive form of Torsion Dystonia usually becomes apparent by
puberty and primarily affects Jews of Ashkenazi descent.  The defective gene
is carried by 1:100 Ashkenazic Jews in the United States.  Males and females
are affected in equal numbers.

Onset of the rarer autosomal dominant form is in late adolescence or
early adulthood.

The average age at onset for the X-linked form of Torsion Dystonia is in
the late thirties.

Related Disorders

Symptoms of the following disorders can be similar to those of Torsion
Dystonia.  Comparisons may be useful for a differential diagnosis:

Marie's Ataxia is a rare inherited disorder of the brain that affects
muscle coordination.  Usually the first symptom of this disorder is an
unsteady manner of walking (gait) and the increasing inability to walk up and
down stairs.  The lack of coordination and muscle tremors may eventually
involve the arms and the legs.   Progressive spinal nerve degeneration leads
to the wasting away (atrophy) of muscles in the arms, legs, head and neck.
This disorder may begin in early adulthood or in middle age.  (For more
information on this disorder, choose "Ataxia, Marie" as your search term in
the Rare Disease Database).

Glutaricaciduria I is a rare hereditary metabolic disorder characterized
by involuntary muscle contortions and an impairment in the ability to carry
out voluntary movements.  Affected individuals usually appear normal at
birth.  During the first year of life the symptoms may include vomiting, high
levels of different acids in the blood (metabolic acidosis), and decreased
muscle tone (hypotonia).  These symptoms may progress to dystonia and choreic
movements in some patients.   (For more information on this disorder, choose
"Glutaricaciduria " as your search term in the Rare Disease Database).

Tardive Dyskinesia is a rare neurologic syndrome associated with the
long-term use of neuroleptic drugs.  These drugs produce symptoms that mimic
other movement disorders but are actually side effects of the drug.  This
disorder usually appears late in the course of drug therapy.  The major
symptoms include involuntary and abnormal facial movements such as grimacing,
sticking out the tongue, and the smacking of lips.  Involuntary, rapid
movements of the arms and legs (chorea) may also occur.  (For more
information on this disorder, choose "Tardive Dyskinesia" as your search term
in the Rare Disease Database).

Spasmodic Torticollis is a form of dystonia characterized by repetitive
and continuous spasms in the muscles of the neck.  These painful spasms
result in the twisting of the neck and an unusual head posture.  These spasms
may begin slowly and the head may rotate to one side when the patient
attempts to hold it straight or when experiencing stress.  One shoulder may
be higher than the other.  These symptoms may progress slowly and level off
after 2 to 5 years.  (For more information on this disorder, choose
"Spasmodic Torticollis" as your search term in the Rare Disease Database).

Segawa's Dystonia is an extremely rare form of dystonia.  A chemical
imbalance in the central nervous system causes lack of muscle control.  This
disorder ranges from almost normal movement in the morning to disability in
the afternoon.  The disorder begins in early childhood and is often confused
with and misdiagnosed as Cerebral Palsy.  It worsens for a few years and then
becomes static.  This disorder is inherited as an autosomal dominant genetic
trait.

Therapies:  Standard

Torsion Dystonia has been treated with many drugs.  These drugs include
Artane (trihexyphenidyl), Cogentin (benztropine), Valium (diazepam), Rivotril
(clonazepam), Lioresal (baclofen), Tegretol (carbamazepine), Sinemet or
Madopar (levodopa), Parlodel (bromocriptine), Thorazine (chlorpromazine),
Dartral (thiopropazate), Serenace or Haldol (haloperidol), Orap (pimozide),
Nitoman (tetrabenazine) and Symmetrel (amantadine).

The orphan drug botulinum A toxin (Oculinum) has been approved by the FDA
for treatment of patients with certain forms of dystonia, including benign
essential blepharospasm (muscle spasms of the eyelids).  This drug is
manufactured by:

     Allergran Pharmaceuticals
     2525 Dupont Dr.
     Irvine CA, 92713

Genetic counseling may be of benefit for patients and their families.

Therapies:  Investigational

Researchers who are investigating Torsion Dystonia are continuing to search
for drugs that may help treat dystonic symptoms.  Investigators are also
seeking better surgical techniques, including the implantation of electrical
stimulating devices that may enhance nerve impulse transmission.

Effectiveness and long-term side effects of these implanted devices have
not been fully documented and more extensive research is being pursued before
their therapeutic value for the treatment of Torsion Dystonia can be
evaluated.

Surgery is rarely used to treat Torsion Dystonia, but it is occasionally
used to destroy cells of the deeply placed gray matter (basal ganglia) of the
brain.  It is believed that these are the cells that are firing off the wrong
instructions to the muscles causing the contortions that are characteristic
of Torsion Dystonia.  It should be noted that the risk of brain damage from
this procedure is very high.  Surgery may also be used in extreme cases to
sever nerves leading to the contracting muscles.

Researchers at the National Institute of Neurological Disorders and
Stroke in Bethesda, MD are testing a Parkinson's Disease medication, Sinemet,
on patients with this form of dystonia.  This drug helps the body to produce
dopamine, a naturally occurring chemical in the brain that is deficient in
children with Segawa's Dystonia.  Patients who wish to participate in this
program should ask their physicians to contact:

     Dr. John K. Fink
     NINDS Developmental and Metabolic Neurology Branch
     NIH, Bldg. 10, Rm. 3D03
     Bethesda, MD  20892

This disease entry is based upon medical information available through
October 1992.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Torsion Dystonia, please contact:

     National Organization for Rare Disorders, Inc. (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

     Dystonia Medical Research Foundation
     One E. Wacker Dr., Suite 2900
     Chicago, IL  60601-2001
     [phone]

     National Foundation for Jewish Genetic Diseases
     250 Park Ave.
     New York, NY  10177
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 10th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1992.  Pp. 328-329, 1349, 1974.

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  Pp. 2134-2135.

CLINICAL COURSE OF IDIOPATHIC TORSION DYSTONIA AMONG JEWS IN ISRAEL, R.
Inzelberg et al.; ADV NEUROL (1988; 50):  Pp. 93-100.

AUTOSOMAL DOMINANT TORSION DYSTONIA IN A SWEDISH FAMILY.  L. Forsgren et
al:  ADV NEUROL (1988; 50):  Pp. 83-92.

THE DYSTONIAS, C.H. Markham; Curr Opin Neurol Neurosurg (June 1992;
5(3)):  Pp. 301-307.

THE GENETICS OF PRIMARY TORSION DYSTONIA, U. Miller; Hum Genet (Jan 1990;
84(4)):  Pp. 107-115.