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amyotrophic neuralgia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

amyotrophic neuralgia

MONDO:0008076

Also known as:amyotrophy, hereditary neuralgicamyotrophy, hereditary neuralgic, with predilection for brachial plexusbrachial plexus neuropathy, hereditary

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Overview

An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

GeneticsAutosomal dominant · SEPTIN9 (chr 17)

Clinical Trials1 registered

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 sometimes findings: Hyporeflexia. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Hyporeflexia, Brachial plexus neuropathy, Depressed nasal bridge
Muscles

Genetic Landscape

SEPTIN9 function has not been fully characterized.

Amyotrophic neuralgia is associated with mutations in the SEPTIN9 gene on chromosome 17.

Diagnosis

Genetic testing for SEPTIN9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for amyotrophic neuralgia has been reported in the published literature.

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

63 publications have been identified in PubMed for amyotrophic neuralgia. Research spans Case Report / Case Series (35%), Diagnostic / Biomarker (19%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	22	35%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:162100

GARD

Genetic and Rare Diseases Info Center

GARD:3955

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for SEPTIN9, 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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amyotrophic neuralgia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

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amyotrophic neuralgia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications