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neuronopathy, distal hereditary motor, type 7A - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, type 7A

MONDO:0008024

Also known as:SLC5A7 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in SLC5A7Dhmn7A

Overview

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.

GeneticsAutosomal dominant · SLC5A7 (chr 2)

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: Increased jitter at single fiber EMG; and sometimes findings: Tremor. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Hyporeflexia, Difficulty walking (gait disturbance), Peripheral neuropathy

Genetic Landscape

SLC5A7 function has not been fully characterized.

Neuronopathy, distal hereditary motor, type 7A has been associated with mutations in the SLC5A7 gene on chromosome 2.

Diagnosis

Genetic testing for SLC5A7 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:158580

GARD

Genetic and Rare Diseases Info Center

GARD:18269

Questions for Your Care Team

→Should I pursue genetic testing for SLC5A7, and what would the results mean for my family?
→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, type 7A

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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