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hereditary spastic paraplegia 55 (SPG55) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary spastic paraplegia 55

MONDO:0014020

Also known as:SPG55autosomal recessive spastic paraplegia 55autosomal recessive spastic paraplegia type 55

Overview

GeneticsAutosomal recessive · MTRFR (chr 12)

ResearchLimited published research (9 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: Lower limb spasticity, Tibialis anterior muscle atrophy, Lower limb muscle weakness, and Reduced visual acuity and others; and common findings: Steppage gait, Foot dorsiflexor weakness, Babinski sign, and Onion bulb formation and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Peripheral axonal neuropathy, Steppage gait, Lower limb spasticity

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MTRFR encodes mitochondrial translation release factor in rescue (166 aa). Part of a mitoribosome-associated quality control pathway that prevents aberrant translation by responding to interruptions during elongation. Highest expression in Testis (16.6 TPM) and Pituitary (15.4 TPM).

Hereditary spastic paraplegia 55 is associated with mutations in the MTRFR gene on chromosome 12.

The MTRFR protein participates in Mitochondrial translation pathway.

MTRFR is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for hereditary spastic paraplegia 55 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 always present features, 5 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 55.

9 publications have been identified in PubMed for hereditary spastic paraplegia 55. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (22%), and Epidemiology / Natural History (22%).

Recent Publications

Davarzani A (2026). [PMID: 42120987](https://pubmed.ncbi.nlm.nih.gov/42120987/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Vaghefi F (2026). [PMID: 42116150](https://pubmed.ncbi.nlm.nih.gov/42116150/). *BMC Med Genomics*. [Review / Meta-Analysis]
Yu Z (2025). [PMID: 39776381](https://pubmed.ncbi.nlm.nih.gov/39776381/). *Neurol Sci*. [Review / Meta-Analysis]
Lan SC (2025). [PMID: 40397273](https://pubmed.ncbi.nlm.nih.gov/40397273/). *Mol Biol Rep*. [Case Report / Case Series]
Spengler FAM (2025). [PMID: 41218046](https://pubmed.ncbi.nlm.nih.gov/41218046/). *PLoS One*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615035

Orphanet

European rare disease database

Orphanet:320375

GARD

Genetic and Rare Diseases Info Center

GARD:17474

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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hereditary spastic paraplegia 55

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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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