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hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (HIBM3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

MONDO:0019195

Also known as:HIBM3IBM3hereditary inclusion body myopathy type 3

Overview

A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.

TreatmentsNo approved treatments · 1 in pipeline

Diagnosis

Biomarker and diagnostic research for hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 inclusion body myopathy-joint contractures-ophthalmoplegia syndrome.

12 publications have been identified in PubMed for hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (17%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Research summaries	4	33%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79091

GARD

Genetic and Rare Diseases Info Center

GARD:9494

Questions for Your Care Team

→What is the current development status of aceneuramic acid, and when might it become available?
→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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Kisho

hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications

hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

Overview

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications