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fatal infantile hypertonic myofibrillar myopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fatal infantile hypertonic myofibrillar myopathy

MONDO:0013472

Also known as:alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathyMFM, fatal infantile hypertonic, alpha-B crystallin-relatedmyofibrillar myopathy type 7

Overview

GeneticsAutosomal recessive · CRYAB (chr 11)

ResearchLimited published research (5 articles)

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: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Difficulty breathing (respiratory insufficiency); and very common findings: Hypertonia. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Difficulty breathing (respiratory insufficiency), Respiratory failure, Apnea

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CRYAB encodes crystallin alpha B (175 aa). May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. Highest expression in Heart Left Ventricle (1,863 TPM) and Brain Spinal cord cervical c-1 (1,663 TPM).

Fatal infantile hypertonic myofibrillar myopathy is associated with mutations in the CRYAB gene on chromosome 11.

CRYAB is classified as a druggable target (Cell Surface category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature.

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 fatal infantile hypertonic myofibrillar myopathy.

5 publications have been identified in PubMed for fatal infantile hypertonic myofibrillar myopathy. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (20%).

Recent Publications

Rashed HR (2025). [PMID: 40243504](https://pubmed.ncbi.nlm.nih.gov/40243504/). *Int J Mol Sci*. [Review / Meta-Analysis]
Durmuş H (2025). [PMID: 41223033](https://pubmed.ncbi.nlm.nih.gov/41223033/). *J Neuromuscul Dis*. [Basic Science / Preclinical]
Wang Q (2024). [PMID: 39973468](https://pubmed.ncbi.nlm.nih.gov/39973468/). *J Neuromuscul Dis*. [Epidemiology / Natural History]
Li Q (2024). [PMID: 39239540](https://pubmed.ncbi.nlm.nih.gov/39239540/). *Int J Med Sci*. [Review / Meta-Analysis]
Baralić K (2024). [PMID: 38963141](https://pubmed.ncbi.nlm.nih.gov/38963141/). *Arh Hig Rada Toksikol*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613869

Orphanet

European rare disease database

Orphanet:280553

GARD

Genetic and Rare Diseases Info Center

GARD:17296

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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fatal infantile hypertonic myofibrillar myopathy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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