Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

monomelic amyotrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

monomelic amyotrophy

MONDO:0011224

Also known as:Hirayama diseaseJMADUEbenign focal amyotrophy

Find Clinical TrialsTrials

Overview

Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.

GeneticsSporadic (not inherited)

Clinical Trials1 registered · 1 recruiting

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 very common findings: Muscle weakness, Abnormality of the upper limb, Abnormal electrical muscle activity (EMG) (emg abnormality), and Distal upper limb amyotrophy; and common findings: Degeneration of anterior horn cells and Abnormality of peripheral nerve conduction. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Interosseus muscle atrophy, Upper limb muscle weakness, Fasciculations

Diagnosis

Biomarker and diagnostic research for monomelic amyotrophy has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very common features, 2 common features.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include procedural interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

39 publications have been identified in PubMed for monomelic amyotrophy. Research spans Case Report / Case Series (51%), Review / Meta-Analysis (15%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Patient case studies	20	51%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602440

Orphanet

European rare disease database

Orphanet:65684

GARD

Genetic and Rare Diseases Info Center

GARD:9697

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

monomelic amyotrophy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

monomelic amyotrophy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications