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striatonigral degeneration, childhood-onset - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

striatonigral degeneration, childhood-onset

MONDO:0014889

Also known as:Lenk-Ploski syndromeSNDCchildhood-onset basal ganglia degeneration syndrome

Overview

GeneticsAutosomal recessive · VAC14 (chr 16)

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 always present findings: Hypertonia, Dystonia, Unsteady gait, and Loss of ambulation; and common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Steppage gait, Excessive salivation, and Low muscle tone (hypotonia) and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Difficulty swallowing (dysphagia), Steppage gait, Delayed speech and language development

Genetic Landscape

VAC14 function has not been fully characterized.

Striatonigral degeneration, childhood-onset is associated with mutations in the VAC14 gene on chromosome 16.

Diagnosis

Genetic testing for VAC14 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for striatonigral degeneration, childhood-onset has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present 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 striatonigral degeneration, childhood-onset.

106 publications have been identified in PubMed for striatonigral degeneration, childhood-onset. Research spans Review / Meta-Analysis (72%), Basic Science / Preclinical (15%), and Case Report / Case Series (5%).

Research Type	Count	% of Total
Research summaries	76	72%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617054

Orphanet

European rare disease database

Orphanet:497906

GARD

Genetic and Rare Diseases Info Center

GARD:17918

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

striatonigral degeneration, childhood-onset

Overview

Clinical Presentation

Genetic Landscape

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

striatonigral degeneration, childhood-onset

Overview

Clinical Presentation

Genetic Landscape

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