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Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.
Features include always present findings: Skeletal muscle autophagosome accumulation; and very common findings: Difficulty swallowing (dysphagia), Dysphonia, and Progressive distal muscle weakness. 41 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 23 | Leg muscle stiffness, Muscle fiber splitting, Quadriceps muscle weakness |
Brain and nerves | 5 | Fasciculations, Difficulty swallowing (dysphagia), Dysphonia |
Lab test results | 3 | Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Antinuclear antibody positivity, Abnormal circulating creatine kinase concentration |
Arms and legs | 3 | Lower limb muscle weakness, Foot dorsiflexor weakness, Limb-girdle muscle weakness |
Eyes | 2 | Cataract, Posterior capsular cataract |
Heart and blood vessels | 2 | Thickened heart muscle (hypertrophic cardiomyopathy), Heart muscle disease (cardiomyopathy) |
Bones and joints | 1 | Skeletal muscle autophagosome accumulation |
Digestive system | 1 | Difficulty swallowing (dysphagia) |
Lungs and breathing | 1 | Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness) |
Head and neck | 1 | Facial diplegia |
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).
Myofibrillar myopathy 2 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.
Genetic testing for CRYAB is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 3 very common features, 24 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for myofibrillar myopathy 2.
4 publications have been identified in PubMed for myofibrillar myopathy 2. Research spans Basic Science / Preclinical (50%) and Epidemiology / Natural History (50%).
Oommen AT (2025). [PMID: 40512964](https://pubmed.ncbi.nlm.nih.gov/40512964/). *Journal of clinical neuromuscular disease*. [Epidemiology / Natural History]
Spinazzi M (2025). [PMID: 39757377](https://pubmed.ncbi.nlm.nih.gov/39757377/). *European journal of neurology*. [Basic Science / Preclinical]
Wannarong T (2025). [PMID: 41183253](https://pubmed.ncbi.nlm.nih.gov/41183253/). *Neurology*. [Epidemiology / Natural History]
Ha C (2024). [PMID: 38212463](https://pubmed.ncbi.nlm.nih.gov/38212463/). *Journal of human genetics*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:21 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center