$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 (203) 746-6518 American Syringomyelia Alliance Project, Inc. P.O. Box 1586 Longview, TX 75606 (214) 759-2469 (800) ASAP-282 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 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.