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spastic paraplegia-Paget disease of bone syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia-Paget disease of bone syndrome

MONDO:0018005

Overview

Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported.

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 spastic paraplegia-Paget disease of bone syndrome.

17 publications have been identified in PubMed for spastic paraplegia-Paget disease of bone syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (44%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Patient case studies	8	50%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:329475

GARD

Genetic and Rare Diseases Info Center

GARD:21491

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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spastic paraplegia-Paget disease of bone syndrome

Overview

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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