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myofibrillar myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myofibrillar myopathy

MONDO:0018943

Also known as:myofibrillar myopathy (disease)Alpha Beta crystallinopathy (type)Desminopathy (type)

Find Clinical TrialsTrials

Overview

Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.

OnsetNEONATAL, INFANTILE, ANTENATAL

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for myofibrillar myopathy has been reported in the published literature.

Prognosis

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 medical devices. Research is primarily sponsored by academic and government institutions.

58 publications have been identified in PubMed for myofibrillar myopathy. Research spans Case Report / Case Series (34%), Basic Science / Preclinical (34%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Patient case studies	20	34%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:593

GARD

Genetic and Rare Diseases Info Center

GARD:10529

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?

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myofibrillar myopathy

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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