Syringomyelia

Syringomyelia

National Organization for Rare Disorders, Inc.

Important

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
  • Hydromyelia
  • Spinal Cord Cyst
  • Syringohydromyelia

Disorder Subdivisions

  • None

General Discussion

Syringomyelia is a neurological disorder characterized by the formation of a fluid-filled cyst (syrinx) within the spinal cord. This cyst may, for unknown reasons, expand during adolescence or the young adult years, destroying the center of the spinal cord as it does.



As the syrinx expands, it affects the nerves that stimulate the patient's legs, arms, back and shoulders. In turn, the affected individual may feel considerable pain and weakness, and may lose the ability to distinguish hot from cold objects. The combination of symptoms and signs may vary considerably from person to person, depending on where in the spine the syrinx is located and how much it expands over time. Often, the symptoms develop slowly. Unless the condition is treated surgically, it may lead to neurological deficits and chronic, intense pain.

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 muscle 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

In most cases, syringomyelia is a congenital (present at birth) abnormality of the brain called a Chiari I malformation. The malformation occurs during the development of the fetus, for reasons that aren't well understood yet. Syringomyelia may also occur as a complication of trauma, spinal cord injury, meningitis, hemorrhage, or a tumor. Symptoms may not appear until years after the initial injury. In rare cases, syringomyelia appears to be familial or genetically transmitted.

Affected Populations

The age of onset of symptoms associated with non-traumatic or primary syringomyelia varies but is typically between 30 and 40 years. It's been estimated that there are about 40,000 cases in the United States, with approximately 1,000 new cases diagnosed every year.

Standard Therapies

Diagnosis

The advent of magnetic resonance imaging (MRI) has improved the diagnosis of syringomelia markedly. The location and extent of the cyst or syrinx is much more accurately determined and treatment can begin, when appropriate, earlier than in the past. Intraoperative sonography (IOS) has been used during surgery to evaluate the effectiveness of the procedure as it is being performed.



Treatment

Treatment of syringomyelia is almost invariably surgical and consists of efforts to reroute the flow of cerebrospinal fluid by the use of diversion tubes or shunts.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com



As of August 2006 there were three clinical trials listed at the NIH government site.



A trial sponsored by the National Institute for Neurological Disorders and Stroke (NINDS) is designed to learn more about how the pressure of the cerebrospinal fluid (CSF) and the flow of CSF through the channels of the brain affect the progression of syringomyelia.

The identification number for this trial is NCT00001327.



NINDS is also sponsoring a clinical trial designed to increase and improve the clinical understanding of Chiari I malformation. The identification number for this trial is NCT00004738.



In addition, NINDS is sponsoring a study that is designed to develop new surgical techniques for the treatment of syringomyelia that will avoid the invasion of the spinal cord that is associated with the placement of shunts to relieve pressure and pain. The identification number for this trial is NCT00011245.

References

TEXTBOOKS

Sahoo S, Pearl PL. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:590-91.



Kasper, DL, Fauci AS, Longo DL, et al., eds. Harrison's Principles of Internal Medicine. 16th ed. McGraw-Hill Companies. New York, NY; 2005:2445.



Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 17th ed. Elsevier Saunders. Philadelphia, PA; 2005:2051.



Rowland LP, ed. Merritt's Neurology. 10th ed. Lippincott Williams & Wilkins. Philadelphia, PA. 2000:715-18.



Wyszynski DF. Neural Tube Defects. 1st ed. Oxford University Press, New York, NY; 2006:243.



REVIEW ARTICLES

Rusbridge C, Greitz D, Iskander BJ. Syringomyelia: current concepts in in pathogenesis, diagnosis, and treatment. J Vet Intern Med. 2006;20:469-79.



Unsgaard G, Rygh OM, Selbekk T, Kolstad F, Lindseth F, Hernes TA. Intra-operative 3D ultrasound in neurosurgery. Acta Neurochir (Wien). 2006;148:235-53; discussion 253.



Batzdorf U. Primary spinal syringomyelia. Invited submission from the joint section meeting on disorders of the spine and peripheral nerves, March 2005. J Neurosurg Spine. 2005;3:429-35.



Di Lorenzo N, Cacciola F. Adult syringomyelia. Classification, pathogenesis, and therapeutic approaches. J Neurosurg Sci. 2005;49:65-72.



Mueller DM, Oro' J. Chiari I malformation with or without syringomyelia and pregnancy: case studies and review of the literature. Am J Perinatol. 2005;22:67-70.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Syringomyelia, Isolated. Entry Number; 186700: Last Edit Date; 8/18/2006.



Campellone JV. Syringomyelia. Medical Encyclopedia. MedlinePlus. Update Date: 8/10/2004.

www.nlm.nih.gov/medlineplus/print/ency/article001398.htm



Syringomyelia Fact Sheet. National Institute of Neurological Disorders and Stroke. Last updated June 19, 2006. 6pp.

www.ninds.nih/disorders/syringomyelia/detail_syringomyelia.htm

Resources

American Syringomyelia & Chiari Alliance Project

P.O. Box 1586

Longview, TX 75606-1586

Tel: (903)236-7079

Fax: (903)757-7456

Tel: (800)272-7282

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

31 Newtown Woods Road

Newtown Square, PA 19073

Tel: (610)353-4737

Email: chiari-owner@yahoogroups.com

Internet: http://www.wacma.com



Christopher & Dana Reeve Foundation

636 Morris Turnpike, Suite 3A

Short Hills, NJ 07078

USA

Tel: (973)379-2690

Fax: (973)912-9433

Tel: (800)225-0292

Email: prc@ChristopherReeve.org

Internet: http://www.christopherreeve.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Christopher S. Burton Syringomyelia Foundation, Inc.

P.O. Box 100335

Fort Lauderdale, FL 33310-0335

Tel: (954)727-5137

Fax: (954)636-2409

Email: info@thesmfoundation.org

Internet: http://www.thesmfoundation.org



Conquer Chiari

320 Osprey Court

Wexford, PA 15090

USA

Tel: (724)940-0116

Fax: (724)940-0172

Email: director@conquerchiari.org

Internet: http://www.conquerchiari.org



Chiari & Syringomyelia Foundation

290 Broadhollow Road, Suite 210E

Melville, NY 11747

Tel: (516)228-3565

Internet: http://www.CSFinfo.org



For a Complete Report

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