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Syringomyelia

It is possible that the main title of the report Syringomyelia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms

* Morvan Disease

Disorder Subdivisions

* None

Related Disorders List

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

* Syringobulbia
* Amyloid Neuropathy
* Arnold-Chiari Syndrome

General Discussion

Syringomyelia is a neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord. The cavity, for unknown reasons, often expands during adolescence or the young adult years. The syrinx is situated near the middle of the spine. It may extend across the spinal cord or along almost all of its length.
Symptoms

Individuals 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 in a "cape-like" pattern. Sinking in of an 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 (areflexia). Morvan Disease is a more severe form of Syringomyelia accompanied by ulceration of fingers and toes.

Spasticity, muscle weakness, and loss of coordinated muscule movements (ataxia) in the lower extremities may also occur. Paralysis of the bladder may also be present.

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 associated with abnormalities of the hind brain. 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 (for that particular trait).

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 50 percent 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), or 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 Populations

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 neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord that extends to involve the brain stem. Syringobulbia usually occurs as a slitlike gap within the lower brainstem that may affect the lower cranial nerves including sensory and 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 a rare malformation of the brain that is present at birth. Abnormalities at the base of the brain may include the displacement of the lower portion of the brain (cerebellum) and/or brain stem through the opening in the back of the skull (foramen magnum). Portions of the brain typically reach the spinal canal (upper cervical area). Developmental defects of the central nervous system may occur in some infants with Arnold-Chiari Syndrome. A sac (myelomeningocele or herniated pouch) may bulge through an abnormal opening in the spinal column and may contain portions of the spinal cord, spinal membranes, and/or cerebrospinal fluid. (For more information on this disorder, choose "Arnold-Chiari" 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.
Standard Therapies

Diagnosis
The location of the syrinx and an accurate diagnosis of Syringomyelia 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
Treatment of Syringomyelia consists of eliminating the course of, or rerouting the fluid. Radiation has not proven to be of any benefit in treatment of this disorder.
Investigational Therapies

Cutting 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. Radical, experimental surgery should considered only after careful investigation.

Administration of the drug baclofen directly into the spinal cord (intrathecally) is being studied for the treatment of severe spasiticity that may be associated with Syringomyelia. Marked improvement was observed in some patients. More studies are needed to determine the long-term safety and effectiveness of baclofen for the treatment of spasticity associated with Syringomyelia.
References

ONLINE MENDELIAN INHERITANCE IN MAN (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, Last Edit 6/7/94. Entry Number 272480; Last Edit 5/10/95; Entry Number 186700.

CECIL TEXTBOOK OF MEDICINE, 20th Ed.: J. Claude Bennett and Fred Plum, Editors; W.B. Saunders Co., 1996. P. 2055.

HARRISON'S PRINCIPLES OF INTERNAL MEDICINE, 14th Ed.: Kurt J. Isselbacher, M.D. et al., Editors; McGraw-Hill, Inc., 1998. Pp. 2387-88.

THE MERCK MANUAL, 17th Ed.: Robert Berkow and Mark Beers, Editors; Merck Research Laboratories; 1999. Pp. 1481-82.

NELSON TEXTBOOK OF PEDIATRICS, 15th Ed.: Richard E. Behrman, Editor; W.B. Saunders Company, 1996. Pp. 1737-38.

TEXTBOOK OF CHILD NEUROLOGY, 5th Ed.: John H. Menkes, M.D., Author; Jonathan W. Pine, Jr. et al., Editors; Williams & Wilkins, 1995. Pp. 265-67.

PRINCIPLES OF NEUROLOGY, 6th Ed.: Raymond D. Adams, Maurice Victor, and Allan A. Ropper, Editors; McGraw-Hill, Inc., 1997. Pp. 1269-73.

SURGICAL TREATMENT OF SYRINGOMYELIA. FAVORABLE RESULTS WITH SYRINGOPERITONEAL SHUNTING. N.M. Barbaro et al.; Journal of Neurosurgery (Sept 1984; 61(3)). Pp. 531-38.

POSTTRAUMATIC SYRINGOMYELIA. G.E. Dworkin et al.; Archives of Physical and Medical Rehabilitation (May 1985; 66(5)). Pp. 329-31.

FAMILIAL SYRINGOMYELIA: CASE REPORT AND REVIEW OF THE LITERATURE. A. Zakeri et al.; Surg Neurol (Jul 1995; 44(1)). Pp. 48-53.

INTRATHECAL BACLOFEN ADMINISTRATION FOR CONTROL OF SEVERE SPINAL SPASTICITY: FUNCTIONAL IMPROVEMENT AND LONG-TERM FOLLOW-UP. P. Azouvi et al.; Arch Phys Med Rehabil (Jan 1996; 77(1)). Pp. 35-39.

SCOLIOSIS AS THE FIRST SIGN OF A CYSTIC SPINAL CORD LESION. L. Samuelsson et al.; Eur Spine (1995; 4(5)). Pp. 284-90.

INVOLUNTARY MOVEMENTS AND ABNORMAL SPONTANEOUS EMG ACTIVITY IN SYRINGOMYELIA AND SYRINGOBULBIA. M.A. Nogues et al.; Neurology (Mar 10 1999; 52(4)). Pp. 823-34.
Resources

American Syringomyelia Alliance Project, Inc.
P.O. Box 1586
Longview, TX 75606-1586
USA
Tel: 9032367079
Fax: 9037577456
Tel: 8002727282
Email: info@asap.org
Internet: http://www.asap.org

Canadian Syringomyelia Network
69 Penny Crescent
Markham
Ontario, L3P 5X7
Canada
Tel: 9054718278
Fax: 9059444844
Email: barb@csn.ca
Internet: http://www.csn.ca

World Arnold Chiari Malformation Association (WACMA)

Internet: http://www.pressenter.com/~wacma/

Christopher and Dana Reeve Paralysis Resource Center
636 Morris Turnpike
Suite 3A
Short Hills, NJ 07078
USA
Tel: 9734678270
Fax: 9734679845
Tel: 8005397309
Email: info@paralysis.org
Internet: http://www.paralysis.org

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. 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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 11/4/1999
Copyright 1987, 1989, 1996, 1998, 1999 National Organization for Rare Disorders, Inc.

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