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striatonigral degeneration, infantile, mitochondrial - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

striatonigral degeneration, infantile, mitochondrial

MONDO:0010774

Also known as:bilateral striatal Necrosis, infantile, mitochondrialinfantile bilateral striatal Necrosis, mitochondrial

Overview

GeneticsMitochondrial (maternal)

OnsetCHILDHOOD

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 always present findings: Frequent falls, Brisk reflexes, Intellectual disability, and Difficulty walking (gait disturbance); and common findings: Clonus, Low muscle tone (hypotonia), Lingual dystonia, and Motor tics and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Clonus, Lingual dystonia, Headache

Prognosis

Phenotype severity distribution: 4 always present features, 15 common features.

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, infantile, mitochondrial.

2 publications have been identified in PubMed for striatonigral degeneration, infantile, mitochondrial. Research spans Review / Meta-Analysis (100%).

Recent Publications

Calakos N (2025). [PMID: 39467044](https://pubmed.ncbi.nlm.nih.gov/39467044/). *Movement disorders : official journal of the Movement Disorder Society*. [Review / Meta-Analysis]
Pathak S (2024). [PMID: 38876946](https://pubmed.ncbi.nlm.nih.gov/38876946/). *Journal of Ayurveda and integrative medicine*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:500003

GARD

Genetic and Rare Diseases Info Center

GARD:18315

Questions for Your Care Team

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striatonigral degeneration, infantile, mitochondrial

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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