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hereditary spastic paraplegia 38 (SPG38) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 38

MONDO:0012867

Also known as:SPG38autosomal dominant spastic paraplegia 38autosomal dominant spastic paraplegia type 38

Overview

A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15.

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: Pes cavus, Babinski sign, Spastic gait, and Lower limb spasticity and others; and common findings: First dorsal interossei muscle weakness, First dorsal interossei muscle atrophy, Thenar muscle weakness, and Abnormal electrical muscle activity (EMG) (emg abnormality) and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Distal muscle weakness, First dorsal interossei muscle weakness, Thenar muscle atrophy

Diagnosis

Biomarker and diagnostic research for hereditary spastic paraplegia 38 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 very common features, 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 hereditary spastic paraplegia 38.

17 publications have been identified in PubMed for hereditary spastic paraplegia 38. Research spans Review / Meta-Analysis (29%), Epidemiology / Natural History (24%), and Diagnostic / Biomarker (18%).

Research Type	Count	% of Total
Research summaries	5	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612335

Orphanet

European rare disease database

Orphanet:171617

GARD

Genetic and Rare Diseases Info Center

GARD:17065

Questions for Your Care Team

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hereditary spastic paraplegia 38

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

hereditary spastic paraplegia 38

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