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hereditary spastic paraplegia 29 (SPG29) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 29

MONDO:0012334

Also known as:SPG29autosomal dominant spastic paraplegia 29hereditary spastic paraplegia type 29

Overview

Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.

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 very common findings: Babinski sign and Lower limb hyperreflexia; and common findings: Hiatus hernia, Pes cavus, Hearing loss (hearing impairment), and Hyperbilirubinemia and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Clonus, Babinski sign, Lower limb spasticity

Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 29 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 5 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 hereditary spastic paraplegia 29.

16 publications have been identified in PubMed for hereditary spastic paraplegia 29. Research spans Diagnostic / Biomarker (25%), Case Report / Case Series (19%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Testing and diagnosis research	4	25%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609727

Orphanet

European rare disease database

Orphanet:101009

GARD

Genetic and Rare Diseases Info Center

GARD:9729

Questions for Your Care Team

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hereditary spastic paraplegia 29

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Recent Publications

hereditary spastic paraplegia 29

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