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Disease Profile

Syringomyelia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

G95.0 Q06.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Congenital and Genetic Diseases

Summary

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]

Symptoms

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.

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

Diagnosis

The initial evaluation of patients suspected of having a syringomyelia includes a comprehensive medical history and physical examination. Imaging studies, such as CT scanx-ray, MRI scan, and myelography are then used to confirm the diagnosis and location of the cyst.[4][5]

Organizations

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

    Learn more

    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.

        References

        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; https://emedicine.medscape.com/article/1151685-overview.
        3. About Syringomyelia. Chiari & Syringomyelia Foundation. 4/2016; https://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; https://emedicine.medscape.com/article/1151685-diagnosis.

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