Features include always present findings: Distal muscle weakness, Areflexia, Postural tremor, and Ptosis and others; and very common findings: Difficulty swallowing (dysphagia), Dysarthria, Weakness of facial musculature, and External ophthalmoplegia. 19 total HPO annotations.

RILPL1 function has not been fully characterized.

Oculopharyngodistal myopathy 4 is associated with mutations in the RILPL1 gene on chromosome 12.

Genetic testing for RILPL1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 4 very common features, 8 common features.

No clinical trials have been registered for oculopharyngodistal myopathy 4.

5 publications have been identified in PubMed for oculopharyngodistal myopathy 4. Research spans Basic Science / Preclinical (40%), Epidemiology / Natural History (40%), and Case Report / Case Series (20%).

Recent Publications

• Boivin M (2026). [PMID: 41703050](https://pubmed.ncbi.nlm.nih.gov/41703050/). *Nat Genet*. [Basic Science / Preclinical]

• Eura N (2026). [PMID: 41888971](https://pubmed.ncbi.nlm.nih.gov/41888971/). *Genome Med*. [Basic Science / Preclinical]

• Wang W (2025). [PMID: 40084170](https://pubmed.ncbi.nlm.nih.gov/40084170/). *Front Genet*. [Case Report / Case Series]

• Tang H (2024). [PMID: 39044557](https://pubmed.ncbi.nlm.nih.gov/39044557/). *Muscle Nerve*. [Epidemiology / Natural History]

• Pongpakdee S (2024). [PMID: 39308795](https://pubmed.ncbi.nlm.nih.gov/39308795/). *Neurol Genet*. [Epidemiology / Natural History]