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hereditary motor and sensory neuropathy, Okinawa type (HMSNP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary motor and sensory neuropathy, Okinawa type

MONDO:0011468

Also known as:HMSNPhereditary motor and sensory neuropathy, proximal typeHMSNO

Overview

Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

GeneticsAutosomal dominant · TFG (chr 3)

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 common findings: Hyperglycemia; and sometimes findings: Hand tremor and High blood fat levels (hyperlipidemia). 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Hand tremor, Difficulty walking (gait disturbance), Fasciculations

Genetic Landscape

TFG function has not been fully characterized.

Hereditary motor and sensory neuropathy, Okinawa type is associated with mutations in the TFG gene on chromosome 3.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

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 motor and sensory neuropathy, Okinawa type.

2 publications have been identified in PubMed for hereditary motor and sensory neuropathy, Okinawa type. Research spans Other (50%) and Review / Meta-Analysis (50%).

Recent Publications

Maeda M (2025). [PMID: 40047103](https://pubmed.ncbi.nlm.nih.gov/40047103/). *Traffic*. [Review / Meta-Analysis]
Finsterer J (2024). [PMID: 39265484](https://pubmed.ncbi.nlm.nih.gov/39265484/). *Clin Neurol Neurosurg*. [Other]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604484

Orphanet

European rare disease database

Orphanet:90117

GARD

Genetic and Rare Diseases Info Center

GARD:10131

Questions for Your Care Team

→Should I pursue genetic testing for TFG, 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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hereditary motor and sensory neuropathy, Okinawa type

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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