OBSOLETE: Ophthalmoplegia-myalgia-tubular aggregates syndrome

Ophthalmoplegia-myalgia-tubular aggregates syndrome (also known as tubular aggregate myopathy with ophthalmoplegia) was a clinical entity characterized by the combination of progressive external ophthalmoplegia (weakness or paralysis of the muscles controlling eye movements), myalgia (muscle pain), and the presence of tubular aggregates on muscle biopsy. Tubular aggregates are abnormal structures derived from the sarcoplasmic reticulum that can be seen under electron microscopy in skeletal muscle fibers. This condition primarily affects the skeletal muscular system and the extraocular muscles, leading to difficulties with eye movement, muscle pain, and progressive muscle weakness. Patients may also experience exercise intolerance and proximal limb weakness. This entry is now classified as OBSOLETE in the Orphanet database, meaning it has been reclassified or merged into a broader diagnostic category. The condition is now generally considered part of the spectrum of tubular aggregate myopathies (TAM), which have been linked to mutations in genes such as STIM1 and ORAI1, involved in store-operated calcium entry (SOCE) signaling. Some cases may also fall under the broader classification of congenital myopathies with tubular aggregates. Diagnosis typically relies on clinical evaluation, muscle biopsy demonstrating tubular aggregates, and genetic testing. Treatment remains largely supportive, focusing on management of pain, physical therapy, and monitoring of muscle function and eye movement. No specific curative therapy is currently available.

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