label: spinal atrophy-ophthalmoplegia-pyramidal syndrome
label_lc: spinal atrophy-ophthalmoplegia-pyramidal syndrome
description: Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994.