Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

autosomal recessive spastic paraplegia type 59 (SPG59) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spastic paraplegia type 59

MONDO:0018416

Also known as:SPG59

Overview

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Spastic paraplegia; and common findings: Nystagmus, Talipes equinovarus, Lower limb spasticity, and Spastic gait and others. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Spastic paraplegia, Lower limb spasticity, Spastic gait

Diagnosis

Biomarker and diagnostic research for autosomal recessive spastic paraplegia type 59 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 7 common features.

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 autosomal recessive spastic paraplegia type 59.

2 publications have been identified in PubMed for autosomal recessive spastic paraplegia type 59. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Di Folco C (2025). [PMID: 40832806](https://pubmed.ncbi.nlm.nih.gov/40832806/). *Mov Disord*. [Diagnostic / Biomarker]
Scaravilli A (2024). [PMID: 38847051](https://pubmed.ncbi.nlm.nih.gov/38847051/). *Mov Disord*. [Diagnostic / Biomarker]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:401795

GARD

Genetic and Rare Diseases Info Center

GARD:21695

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

autosomal recessive spastic paraplegia type 59

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features