Synonyms: Congenital syringomyelia
A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord which may or may not communicate with the central canal does not have an ependymal lining and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms or disproportionately greater motor impairment in upper compared to lower extremities.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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