Spinal atrophy ophthalmoplegia pyramidal syndrome
Alternate names
Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms; Hamano Tsukamoto syndrome
Definition
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.
NIH genetic and rare disease info
Spinal atrophy ophthalmoplegia pyramidal syndrome is a rare disease.
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