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hereditary spastic paraplegia 34 (SPG34) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 34

MONDO:0010418

Also known as:SPG34X-linked spastic paraplegia 34X-linked spastic paraplegia type 34

Overview

X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients.

GeneticsX-linked

Clinical Presentation

Features include: Clonus, Babinski sign, Impaired vibratory sensation, and Paraplegia and 3 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Clonus, Babinski sign, Paraplegia

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Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 34 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 34.

12 publications have been identified in PubMed for hereditary spastic paraplegia 34. Research spans Epidemiology / Natural History (33%), Case Report / Case Series (25%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	4	33%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300750

Orphanet

European rare disease database

Orphanet:171607

GARD

Genetic and Rare Diseases Info Center

GARD:17063

Questions for Your Care Team

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hereditary spastic paraplegia 34

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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