Myelatelia refers to a rare congenital condition characterized by the absence or underdevelopment of the spinal cord. Derived from the Greek words "myelo" meaning spinal cord and "atelēs" meaning incomplete or defective, myelatelia is also known as spinal agenesis or spinal dysraphism.
In individuals with myelatelia, the spinal cord fails to develop fully during fetal development, leading to varying degrees of spinal cord malformation or absence. This malformation can occur at any level of the spinal column and may involve the cervical, thoracic, lumbar, or sacral regions. As a result, affected individuals may exhibit a wide spectrum of symptoms and disabilities, ranging from mild to severe.
Common symptoms associated with myelatelia include musculoskeletal abnormalities, such as clubfoot or limb deformities, impaired mobility, urinary and bowel dysfunctions, as well as varying degrees of sensory and motor deficits. The severity of these symptoms often depends on the level and extent of spinal cord malformation.
Diagnosis of myelatelia usually occurs during infancy or early childhood through clinical evaluation, imaging techniques like magnetic resonance imaging (MRI), and, in some cases, genetic testing. Treatment options for myelatelia are primarily supportive and focus on managing the associated symptoms and disabilities. This may include physical therapy, orthopedic interventions, assistive devices, and in certain cases, surgical interventions to address specific complications.
Given the complex nature of myelatelia, a comprehensive approach involving a multidisciplinary team of healthcare professionals is often required to provide the best possible care and support for individuals affected by this condition.
