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hereditary spastic paraplegia 19 (SPG19) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 19

MONDO:0011785

Also known as:SPG19autosomal dominant spastic paraplegia 19autosomal dominant spastic paraplegia type 19

Overview

Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.

GeneticsAutosomal dominant

ResearchLimited published research (2 articles)

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: Impaired vibration sensation in the lower limbs, Urinary urgency, Babinski sign, and Urinary incontinence and 8 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Babinski sign, Spastic gait, Lower limb spasticity

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 19.

2 publications have been identified in PubMed for hereditary spastic paraplegia 19. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Lan SC (2025). [PMID: 40397273](https://pubmed.ncbi.nlm.nih.gov/40397273/). *Molecular biology reports*. [Case Report / Case Series]
Elert-Dobkowska E (2024). [PMID: 38732227](https://pubmed.ncbi.nlm.nih.gov/38732227/). *International journal of molecular sciences*. [Basic Science / Preclinical]

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:607152

Orphanet

European rare disease database

Orphanet:100999

GARD

Genetic and Rare Diseases Info Center

GARD:9588

Questions for Your Care Team

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hereditary spastic paraplegia 19

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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