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spastic paraplegia 30A, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spastic paraplegia 30A, autosomal dominant

MONDO:0700307

Overview

GeneticsAutosomal recessive, Autosomal dominant

ResearchLimited published research (1 article)

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 common findings: Peripheral axonal neuropathy, Dysmetria, Ataxia, and Lower limb muscle weakness and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Peripheral axonal neuropathy, Babinski sign, Ataxia

Prognosis

Phenotype severity distribution: 5 common features.

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 30A, autosomal dominant.

1 publication has been identified in PubMed for spastic paraplegia 30A, autosomal dominant. Research spans Epidemiology / Natural History (100%).

Recent Publications

Rudebeck M (2026). [PMID: 41651652](https://pubmed.ncbi.nlm.nih.gov/41651652/). *J Inherit Metab Dis*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610357

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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spastic paraplegia 30A, autosomal dominant

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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