SNP Shot: Genomic Insights

Spina bifida arises when the neural tube, which develops into the brain and spinal cord, doesn't fully close during early embryonic development. This incomplete closure results in the spinal column bones not completely enclosing the developing spinal cord nerves. In some cases, part of the spinal cord protrudes through an opening in the spine, potentially causing permanent nerve damage. Due to its origin in neural tube abnormalities, spina bifida is considered a neural tube defect.

Infants with spina bifida may present with a fluid-filled sac covered by skin on their back, known as a meningocele. A myelomeningocele occurs when the sac includes part of the spinal cord and its protective membranes. The severity of symptoms varies depending on the opening's location in the spinal column and the amount of spinal cord within the sac. Possible issues include loss of sensation below the opening, leg weakness or paralysis, and bladder/bowel control difficulties. Some individuals may also experience hydrocephalus (excess fluid around the brain) and learning disabilities. With surgical intervention and ongoing care, many individuals with spina bifida achieve adulthood.

Spina bifida occulta, a milder form, involves abnormal spinal column bone formation, but the spinal cord nerves typically develop normally. Unlike more severe forms, the spinal cord doesn't protrude. Often, spina bifida occulta presents without health problems, although rare instances may involve back pain or bladder function changes.

Inheritance:

The majority of spina bifida cases are sporadic, meaning they occur without a family history of the condition. While a small percentage of cases have been observed in families, there is no distinct inheritance pattern. First-degree relatives (siblings and children) of individuals with spina bifida have a higher risk of developing the condition compared to the general population.