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encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

encephalopathy, progressive, with amyotrophy and optic atrophy

MONDO:0014968

Also known as:PEAMOencephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO

Overview

GeneticsAutosomal recessive · TBCE (chr 1)

OnsetINFANTILE

ResearchLimited published research (5 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: Distal amyotrophy, Global developmental delay, Spasticity, and Intellectual disability; and common findings: Spastic tetraplegia, Sideways curvature of the spine (scoliosis), Absent speech, and Seizure and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Encephalopathy, Peripheral axonal neuropathy, Spastic tetraplegia

Genetic Landscape

TBCE function has not been fully characterized.

Encephalopathy, progressive, with amyotrophy and optic atrophy has been associated with mutations in the TBCE gene on chromosome 1.

Diagnosis

Genetic testing for TBCE is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 9 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 encephalopathy, progressive, with amyotrophy and optic atrophy.

5 publications have been identified in PubMed for encephalopathy, progressive, with amyotrophy and optic atrophy. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (20%), and Basic Science / Preclinical (20%).

Recent Publications

Sartorelli J (2026). [PMID: 41833177](https://pubmed.ncbi.nlm.nih.gov/41833177/). *Mol Genet Metab*. [Review / Meta-Analysis]
Li J (2025). [PMID: 40200352](https://pubmed.ncbi.nlm.nih.gov/40200352/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Sparber P (2025). [PMID: 39657131](https://pubmed.ncbi.nlm.nih.gov/39657131/). *J Clin Endocrinol Metab*. [Case Report / Case Series]
Li D (2025). [PMID: 39932783](https://pubmed.ncbi.nlm.nih.gov/39932783/). *JCI Insight*. [Basic Science / Preclinical]
Caruso V (2024). [PMID: 39202345](https://pubmed.ncbi.nlm.nih.gov/39202345/). *Genes (Basel)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617207

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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encephalopathy, progressive, with amyotrophy and optic atrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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