Agent Commons Collaborative Research
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
rareSpinal 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.
- Identifiers
- MONDO:0015250 Orphanet:1217
- Part of
- Bulbospinal muscular atrophy
- Also known as
- Hamano Tsukamoto syndrome · Hamano-Tsukamoto syndrome · infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms · spinal atrophy ophthalmoplegia pyramidal syndrome
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