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neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity

MONDO:0971150

Overview

GeneticsAutosomal recessive · RTN2 (chr 19)

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: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Spastic gait, Lower limb spasticity, and Motor delay and others; and very common findings: Foot dorsiflexor weakness, Motor axonal neuropathy, and Distal upper limb amyotrophy. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Action tremor, Spastic gait, Lower limb spasticity

Genetic Landscape

RTN2 function has not been fully characterized.

Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity is associated with mutations in the RTN2 gene on chromosome 19.

Diagnosis

Genetic testing for RTN2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 13 always present features, 3 very common features, 7 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620854

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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neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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