What is Syringomyelia?
Syringomyelia is a rare condition that causes the development of a fluid-filled cyst in the spinal cord. As the cyst enlarges over time, it may cause muscle atrophy, loss of reflexes, and loss of sensitivity to pain and temperature. Other symptoms include having stiffness in the back, legs, shoulders, and arms, pain in the neck, arms, and back, and having bowel and bladder function problems.
What is the prevalence of Syringomyelia?
There is a lack of data on the prevalence of syringomyelia, but it is known that men are more likely to be affected by it than women. Recent work in the US estimates the prevalence at 7-70 per 100 000 people.
How is Syringomyelia diagnosed?
The diagnosis of syringomyelia typically begins with a complete physical examination. If syringomyelia is suspected to be present, an MRI scan or CT scan will likely follow.
Is there any specific gene/pathway in Syringomyelia that has been identified?
Syringomyelia is the result of an abnormal circulation in the CSFM (cerebrospinal fluid). An important gene often associated with this disorder is ACY1 (aminoacylase 1). Mutations of this protein-coding gene will usually cause central nervous system defects.
How is Syringomyelia treated?
Currently, there is no known medical treatment for patients with Syringomyelia, however there are available surgical treatments. The type of surgery performed will depend on the type of Syringomyelia. In Chiari malformation, the surgery will help provide more space at the bottom of the skull and the upper neck. This type of surgery will usually result in a stabilization, or even improvements in symptoms. Other types of surgeries may involve draining the syrinx using a system known as the shunt. A shunt can slow down symptoms and relieve pain.
Are there any clinical trials underway for Syringomyelia?
Yes! The NIH is currenting recruiting patients ages 18 to 99 to conduct a 5 year natural history study of individuals with syringomyelia and related conditions. Here information can be accessed here.
How can RareShare be helpful to Syringomyelia patients and families?
The Syringomyelia Rareshare Community 112 community members, with 28 discussion topics underway. Rareshare will help provide more a network of support for patients, health workers, caregivers and families affected by, or are simply interested in Syringomyelia.
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