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myofibrillar myopathy 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myofibrillar myopathy 8

MONDO:0014993

Also known as:PYROXD1 myofibrillar myopathy (disease)myofibrillar myopathy (disease) caused by mutation in PYROXD1myopathy, myofibrillar, 8

Overview

Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.

GeneticsAutosomal recessive · PYROXD1 (chr 12)

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 always present findings: Limb muscle weakness, Muscle weakness, Hyporeflexia, and Myopathic facies and others; and very common findings: Difficulty climbing stairs. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	13	Achilles tendon contracture, Difficulty climbing stairs, Limb muscle weakness

Genetic Landscape

PYROXD1 function has not been fully characterized.

Myofibrillar myopathy 8 is caused by mutations in the PYROXD1 gene on chromosome 12.

Diagnosis

Genetic testing for PYROXD1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 1 very common feature, 13 common features.

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 myofibrillar myopathy 8.

19 publications have been identified in PubMed for myofibrillar myopathy 8. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (32%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Patient case studies	6	32%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 4:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617258

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

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myofibrillar myopathy 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications