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Spinal atrophy-ophthalmoplegia-pyramidal syndrome

Disease 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.


  • Synonym(s):
    • Hamano-Tsukamoto syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: G12.2
  • OMIM: -
  • UMLS: C2930956
  • MeSH: -
  • GARD: 4942
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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