Syringomyelia is a condition in which cerebrospinal fluid accumulates within the spinal cord, forming one or more elongated fluid-filled cavities called syringes. It is classified into two forms: secondary syringomyelia, arising from an identifiable underlying cause, and primary syringomyelia, occurring without a recognized etiology. Prevalence is estimated at 1 to 9 per 100,000 individuals. Recognized subtypes are primary syringomyelia and secondary syringomyelia. The condition is structural and acquired; no gene or inheritance data are present in this packet.

Phenotype data are not captured in this packet. The clinical manifestations of syringomyelia are determined by the location of the syrinx within the spinal cord, its extent, and rate of change. Expression varies substantially by etiology and subtype.

Syringomyelia is not caused by pathogenic variants in individual genes; known_genes and inheritance_patterns are absent from this packet, consistent with its acquired structural nature. Secondary syringomyelia develops from an identifiable underlying cause; primary syringomyelia arises without a recognized etiology.

Diagnostic method data are not captured in this packet. A study developing a patient-reported outcome measure for Chiari malformation and syringomyelia (NCT06011226) is in the active trials for this condition.

No approved disease-specific therapies are identified in this packet. Active clinical research includes a Phase 1 trial of extracellular vesicle therapy (NCT07295067), Phase 2 trials of betaine (NCT06308367) and thalidomide (NCT06268093), and a surgical trial comparing subarachnoid bypass with adhesion lysis (NCT06375759), all at Xuanwu Hospital.

Natural history data are not captured in this packet. The clinical course is variable, influenced by etiology, syrinx characteristics, and whether underlying causative conditions can be addressed.

Five active clinical trials are registered. Research spans pharmacologic therapy, procedural intervention, and outcome-measure development. The published literature includes 211 classified publications; case reports and case series are the dominant type (64 identified), alongside 37 reviews. Biomarker and trial-related publications are represented.