Features include always present findings: Internally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, and EMG: myopathic abnormalities; and common findings: Facial palsy and Scapular winging. 13 total HPO annotations.

SQSTM1 function has not been fully characterized.

Myopathy, distal, with rimmed vacuoles is associated with mutations in the SQSTM1 gene on chromosome 5.

Genetic testing for SQSTM1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopathy, distal, with rimmed vacuoles has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 2 common features.

No clinical trials have been registered for myopathy, distal, with rimmed vacuoles.

5 publications have been identified in PubMed for myopathy, distal, with rimmed vacuoles. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Diagnostic / Biomarker (20%).

Recent Publications

• Li C (2026). [PMID: 41792844](https://pubmed.ncbi.nlm.nih.gov/41792844/). *Acta Neuropathol Commun*. [Basic Science / Preclinical]

• Koumasopoulos E (2025). [PMID: 39719859](https://pubmed.ncbi.nlm.nih.gov/39719859/). *Neurocase*. [Case Report / Case Series]

• Mayer T (2025). [PMID: 40384347](https://pubmed.ncbi.nlm.nih.gov/40384347/). *Neuropathol Appl Neurobiol*. [Diagnostic / Biomarker]

• Tedesco B (2025). [PMID: 40467930](https://pubmed.ncbi.nlm.nih.gov/40467930/). *Eur J Hum Genet*. [Basic Science / Preclinical]

• Spinazzi M (2025). [PMID: 39757377](https://pubmed.ncbi.nlm.nih.gov/39757377/). *Eur J Neurol*. [Case Report / Case Series]