National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Syringomyelia

Syringomyelia is a condition in which a cyst, called a syrinx, forms within the spinal cord. This cyst expands and elongates over time, destroying the center of the spinal cord which can result in pain, weakness, stiffness in the back, shoulders, arms, or legs, headaches, and insensitivity to temperature (especially in the hands). Symptoms vary from person to person. Syringomyelia is often related to a congenital abnormality of the brain called a Chiari I malformation, but may also occur as a complication of trauma, inflammation of the tissue that surrounds the brain and spinal cord (meningitis) such as the inflammation of the arachnoides (arachnoiditis), hemorrhage, or a tumor. Symptoms may appear months or even years after the initial injury. Some cases of syringomyelia are familial, although this is rare.[1][2][3]

Treatment often involves surgery and avoiding activities that involve straining. Drainage of the cysts using a catheter, drainage tubes, and valves may be required in some patients. If not treated, the disorder can lead to progressive weakness in the arms and legs, loss of hand sensation, and chronic, severe pain.[1][3]
Last updated: 4/24/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 19 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the foramen magnum 0002699
Areflexia of upper limbs 0012046
Arnold-Chiari type I malformation 0007099
Autosomal dominant inheritance 0000006
Babinski sign 0003487
Dysarthria
Difficulty articulating speech
0001260
Enlarged sagittal diameter of the cervical canal 0005878
Gait ataxia
Inability to coordinate movements when walking
0002066
Horner syndrome 0002277
Limb muscle weakness
Limb weakness
0003690
Lower limb hyperreflexia
Overactive lower leg reflex
0002395
Lower limb spasticity 0002061
Neck pain 0030833
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Paresthesia
Pins and needles feeling
Tingling
[ more ] 		0003401
Scoliosis 0002650
Syringomyelia
Fluid-filled cyst in spinal cord
0003396
Unsteady gait
Unsteady walk
0002317
Urinary incontinence
Loss of bladder control
0000020
Showing of 19 |
Last updated: 7/1/2020
The initial evaluation of patients suspected of having a syringomyelia includes a comprehensive medical history and physical examination. Imaging studies, such as CT scan, x-ray, MRI scan, and myelography are then used to confirm the diagnosis and location of the cyst.[4][5]
Last updated: 4/24/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Syringomyelia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Syringomyelia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. NINDS Syringomyelia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). April 5, 2016; https://www.ninds.nih.gov/Disorders/All-Disorders/Syringomyelia-Information-Page.
  2. Hassan Ahmad Hassan Al-Shatoury. Syringomyelia. Medscape. Jul 08, 2016; http://emedicine.medscape.com/article/1151685-overview.
  3. About Syringomyelia. Chiari & Syringomyelia Foundation. 4/2016; http://csfinfo.org/files/2914/6170/1074/About_SM-web.pdf.
  4. Syringomyelia Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). April 5, 2016; https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Syringomyelia-Fact-Sheet.
  5. Al-Shatoury HAH, Galhorn AA, Wagner FC. Syringomyelia: Differential Diagnosis & Workup. Medscape Reference. Jul 08, 2016; http://emedicine.medscape.com/article/1151685-diagnosis.