CD-ROM Today (UK) (Spanish) 15/CDRT.iso/dp/0425/04250.txt

Text File | 1994-01-18 | 8.8 KB | 204 lines

$Unique_ID{BRK04250}
$Pretitle{}
$Title{Syringomyelia}
$Subject{Syringomyelia Morvan Disease Syringobulbia Amyloid Neuropathy
Arnold-Chiari Syndrome }
$Volume{}
$Log{}

Copyright (C) 1987, 1989 National Organization for Rare Disorders, Inc.

381:
Syringomyelia

** IMPORTANT **
It is possible the main title of the article (Syringomyelia) is not the
name you expected.  Please check the SYNONYMS listing on the next page to
find alternate names, disorder subdivisions, and related disorders covered
by this article.

Synonyms

     Morvan Disease

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

     Syringobulbia
     Amyloid Neuropathy
     Arnold-Chiari Syndrome

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.

Syringomyelia is a neurological disorder characterized by a fluid-filled
cavity (syrinx) within the spinal cord.  The cavity is a congenital lesion,
but for unknown reasons it often expands during adolescence or the young
adult years.  The syrinx is situated near the middle of the spine.  It
usually begins in the neck (cervical) area, but may extend across the spinal
cord or virtually along its whole length.

Symptoms

Patients with Syringomyelia in the upper (cervical and thoracic) part of the
spinal cord may first notice loss of feeling for pain and temperature in
their fingers, hands, arms, and upper chest.  In the early stages, a sense of
touch is still present.  A loss of feeling may spread over the shoulders and
back like a cape.  Sinking in of the eyeball, a drooping upper eyelid, slight
elevation of the lower lid, constriction of the pupil, narrowing of the
opening between the eyelids, absence of sweating and flushing of the affected
side of the face (Horner syndrome; Bernard-Horner syndrome; Horner's ptosis)
may also occur.

Chronic progressive degeneration of the stress-bearing portion of a bone
joint is another symptom of Syringomyelia (Charcot joint; neuropathic
arthropathy).  Reflexes in the upper extremities may be absent.

Morvan disease is a severe form of Syringomyelia accompanied by
ulceration of fingers and toes.

When the lumbar and sacral segments of the spine are affected,
spasticity, muscle weakness, and muscular incoordination (ataxia) in the
lower extremities as well as paralysis of the bladder usually occur.

Syringomyelia is a slowly progressive disorder.  Erosion of the bony
spinal canal may occur in long-standing cases, as well as increased porosity
of the bones (osteoporosis).  Joint contractures and progressive curvature of
the spine (scoliosis) are other long-term symptoms.

Causes

Syringomyelia is most often a congenital disorder of unknown cause.  In some
cases the disorder may be inherited through autosomal dominant or recessive
genes.  However, it can also be caused by spinal cord injuries during any
stage of life.

Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene 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 show no 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 dominant disorders, a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the normal gene
and resulting in appearance of the disease.  The risk of transmitting the
disorder from affected parent to offspring is 50% for each pregnancy
regardless of the sex of the resulting child.)

The disorder is often associated with an excess of a type of nerve cells
that constitute the white matter of the brain (astrocytes) in damaged areas
of the central nervous system.  Frequently, there is an association with an
exposed spinal cord (spina bifida), an extra rib arising from a neck vertebra
(cervical rib), or asymmetry of the skull.  In some cases a tumor in the
spinal cord may be found in conjunction with Syringomyelia.

Affected Population

Syringomyelia usually affects persons of either sex before 30 years of age.
There are approximately 1,000 cases of this disorder identified in the United
States each year.

Related Disorders

Syringobulbia is a similar neurological disorder characterized by a fluid-
filled cavity (syrinx) within the brain stem.  The cavity is a congenital
lesion, but for unknown reasons it often expands during adolescence or the
young adult years.  Syringobulbia usually occurs as a slitlike gap within
the lower brainstem that may affect the lower cranial nerves, sensory or
motor nerve pathways by disruption or compression.  (For more information on
this disorder, choose "Syringobulbia" as your search term in the Rare Disease
Database.)

Amyloid Neuropathy is a hereditary disorder in which the abnormal
glycoprotein "amyloid" accumulates in the nervous system and impairs its
function.  It often affects the elderly.  (For more information on this
disorder, choose "Amyloidosis" as your search term in the Rare Disease
Database.)

Arnold-Chiari Syndrome is characterized by a displacement of the
brainstem into the spinal cord.  Infants with the disorder may exhibit
symptoms such as vomiting, mental impairment, and weakness.  The extremities
may be paralyzed.  Arnold-Chiari Syndrome usually appears in a milder form in
adolescents.  Swelling of the optic nerve region (papilledema), nystagmus,
ataxia, transient abnormal sensations (paresthesias) and paralysis affecting
the eyes or lower cranial nerves may also occur.  (For more information on
this disorder, choose "Arnold-Chiari Syndrome" as your search term in the
Rare Disease Database.)

Neoplasms and vascular malformations in the spinal cord may also cause
neurological symptoms similar to those of Syringomyelia.

Therapies:  Standard

An accurate diagnosis of Syringomyelia and the location of the syrinx can be
arrived at by using imaging techniques such as delayed CT metrizamide
myelography, or MRI (magnetic resonance imaging).  Intraoperative Sonography
(IOS) has been used during surgery to evaluate the effectiveness of the
procedure as it is being performed.

Treatment of Syringomyelia consists of connecting the fluid-filled cavity
(syrinx) in the spinal cord with the abdominal cavity (syringo-peritoneal
shunting) to drain the fluid.  This procedure has been effective in reversing
or arresting neurological deterioration in some patients.  Radiation has not
proven to be of any benefit in treatment of this disorder.

Therapies:  Investigational

Cutting of the spinal cord and its central canal at the lower end (filum
terminale) and decompression of the spinal cord have been advocated by some
for treatment of Syringomyelia.  However, the effects of these surgical
procedures are hard to evaluate, since the natural course of the disorder is
variable.  Consideration of such radical experimental surgery should be
carefully made.

This disease entry is based upon medical information available through
April 1989.  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 Syringomyelia, please contact:

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

     American Syringomyelia Alliance Project, Inc.
     P.O. Box 1586
     Longview, TX  75606
     [phone]
     (800) ASAP-282

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

References

SURGICAL TREATMENT OF SYRINGOMYELIA.  FAVORABLE RESULTS WITH
SYRINGOPERITONEAL SHUNTING:  N.M. Barbaro, et. al.; Journal of Neurosurgery
(September 1984:  issue 61,3).  Pp. 531-538.

POSTTRAUMATIC SYRINGOMYELIA:  G.E. Dworkin, et al.; Archives of Physical
and Medical Rehabilitation (May 1985:  issue 66,5).  Pp. 329-331.