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spinal atrophy-ophthalmoplegia-pyramidal syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinal atrophy-ophthalmoplegia-pyramidal syndrome

MONDO:0015250

Also known as:Hamano-Tsukamoto syndromeinfantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms

Overview

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.

Diagnosis

Biomarker and diagnostic research for spinal atrophy-ophthalmoplegia-pyramidal syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for spinal atrophy-ophthalmoplegia-pyramidal syndrome.

301 publications have been identified in PubMed for spinal atrophy-ophthalmoplegia-pyramidal syndrome. Kisho has analyzed 26 by research type. Research spans Review / Meta-Analysis (65%), Case Report / Case Series (19%), and Basic Science / Preclinical (8%).

Research Type	Count	% of Total
Research summaries	17	65%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1217

GARD

Genetic and Rare Diseases Info Center

GARD:4942

Questions for Your Care Team

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spinal atrophy-ophthalmoplegia-pyramidal syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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