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Disease Profile

Myelomeningocele

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.

Unknown

Age of onset

Infancy

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ICD-10

Q05.0 Q05.1 Q05.2 Q05.3 Q05.4 Q05.5 Q05.6 Q05.7 Q05.8 Q05.9

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.

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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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Other names (AKA)

Meningomyelocele

Categories

Nervous System Diseases

Summary

Myelomeningocele occurs when the spine and spinal cord do not form correctly during early development, causing a condition known as spina bifida. Myelomeningocele is the most serious form of spina bifida. It happens when parts of the spinal cord and nerves pop out through the open part of the spine. This leads to spinal cord and spinal nerve damage and other disabilities. Symptoms of a myelomeningocele include a decreased ability to feel sensation below the opening in the spine. Other symptoms include decreased leg movement and the inability to control the bladder and bowels. Many children with this condition develop too much fluid around the brain (hydrocephalus). Without treatment, this can lead to brain damage. The cause of myelomeningocele is unknown. Both genetic and environmental factors are thought to be involved. Low levels of folic acid during early pregnancy are known to contribute to the occurrence of spina bifida and myelomeningocele. During pregnancy, myelomeningocele is often diagnosed due to an abnormal alpha fetoprotein screening test. Imaging studies such as a fetal ultrasound done during pregnancy or an MRI or CT scan done after birth are also used. Treatment is focused on managing the symptoms and typically involves surgery to close the opening in the spine. Options for surgery include fetal surgery done during pregnancy or surgery done shortly after the baby is born.[1][2][3][4]

Symptoms

A baby born with a myelomeningocele may have a sac sticking out of the mid to lower back that the doctor cannot see through when shining a light behind it. Symptoms of this condition include:[1][5]

  • Loss of bladder or bowel control
  • Partial or complete lack of sensation
  • Partial or complete paralysis of the legs
  • Weakness of the hips, legs, or feet

Some individuals may have additional symptoms. Other symptoms include:

Twenty to 50 percent of children with myelomeningocele develop a condition called progressive tethering, or tethered cord syndrome. A part of the spinal cord becomes fastened to an immovable structure—such as overlying membranes and vertebrae—causing the spinal cord to become abnormally stretched and the vertebrae elongated with growth and movement. This condition can cause change in the muscle function of the legs, as well as changes in bowel and bladder function. Early surgery on the spinal cord may help the child to regain a normal level of functioning and prevent further neurological deterioration.[5]

Treatment

Treatment for myelomeningocele typically involves surgery to repair the opening in the spine. Surgery can be done before or shortly after birth. Surgery before birth (fetal surgery) is an option depending on the severity of the myelomeningocele and the health of the mother. While surgery may prevent symptoms from getting worse, it cannot correct any damage to the spinal cord of nerves that is already present.

Other treatment options are focused on managing the long-term symptoms and may include a ventriculoperitoneal shunt to drain fluid from the head, antibiotics as protection from infection, and physical therapy.[3][4]

Specialists involved in the care of someone with myelomeningocele may include:

  • Neurologist
  • Neurosurgeon
  • Fetal surgeon
  • Urologist
  • Orthopedist
  • Dermatologist
  • Physical therapist

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

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

      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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Myelomeningocele. Click on the link to view a sample search on this topic.

        References

        1. Zieve D., Eltz D., Kaneshiro N . Myelomeingocele. Medline Plus. 2011; https://www.nlm.nih.gov/medlineplus/ency/article/001558.htm. Accessed 4/24/2012.
        2. Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet. Nov 20-26, 2004; 364(9448):1885-95. https://pubmed.ncbi.nlm.nih.gov/15555669/.
        3. Phillips LA, Burton JM, Evans SH. Spina Bifida Management. Curr Probl Pediatr Adolesc Health Care. Jul 2017; 47(7):173-177. https://pubmed.ncbi.nlm.nih.gov/28734746/.
        4. ACOG Committee Opinion No. 720. Maternal-Fetal Surgery for Myelomeningocele. Obstet Gynecol. Sep 2017; 130(3):e164-e167. https://pubmed.ncbi.nlm.nih.gov/28832491/.
        5. National Institutes of Neurological Disorders and Stroke. Spina Bifida fact sheet. NINDS. February 2012; https://www.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm. Accessed 4/24/2012.

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