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hereditary spastic paraplegia 41 (SPG41) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 41

MONDO:0013239

Also known as:SPG41autosomal dominant spastic paraplegia 41autosomal dominant spastic paraplegia type 41

Overview

Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.

GeneticsAutosomal dominant

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: Urinary urgency, Lower limb muscle weakness, Spastic gait, and Spastic paraplegia and 1 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Spastic gait, Spastic paraplegia, Overactive reflexes (hyperreflexia)

Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 41 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 hereditary spastic paraplegia 41.

15 publications have been identified in PubMed for hereditary spastic paraplegia 41. Research spans Diagnostic / Biomarker (33%), Epidemiology / Natural History (33%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Testing and diagnosis research	5	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613364

Orphanet

European rare disease database

Orphanet:320355

GARD

Genetic and Rare Diseases Info Center

GARD:17471

Questions for Your Care Team

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hereditary spastic paraplegia 41

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hereditary spastic paraplegia 41

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications