Spinal angiography and epidural venography in juvenile muscular atrophy of the distal arm "hirayama disease"

We studied two 16-year-old males with juvenile muscular atrophy of the distal arm, "Hirayama disease," resulting in asymmetric atrophy and weakness of the distal upper extremities. Pathogenic theories include a compressive myelopathy with or without ischemia, and occasional cases are accounted for by genetic mutations. To specifically address the ischemia hypothesis we performed spinal angiography and epidural venography. Neck flexion during spinal angiography showed a forward shift of a nonoccluded anterior spinal artery without impedance to blood flow. Epidural venography demonstrated engorgement of the posterior epidural venous plexus without obstruction to venous flow. The findings do not support large vessel obstruction as a contributory factor. The Hirayama hypothesis continues to best explain the disease pathogenesis: neck flexion causes tightening of the dura and intramedullary microcirculatory compromise with resultant nerve cell damage. The age-related factor can most likely be accounted for by a growth imbalance between the vertebral column and the cord/dural elements. Resolution of progression is associated with cessation of body growth, after which the symptoms plateau or modestly improve.