spinal atrophy-ophthalmoplegia-pyramidal syndrome
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.
MONDO:0016113
bulbospinal muscular atrophy
is_a
Hamano Tsukamoto syndrome
related
Hamano-Tsukamoto syndrome
exact
infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms
related
spinal atrophy ophthalmoplegia pyramidal syndrome
related