TUBA4A encodes alpha-tubulin 4A, a major constituent of microtubules that form the cytoskeletal framework essential for cell structure and function 1. As a core component of microtubule heterodimers, TUBA4A contributes to GTP-dependent microtubule polymerization and stabilization, with GTPase activity regulating tubulin-GTP hydrolysis 1. Beyond structural roles, TUBA4A interacts with regulatory proteins; notably, acetylated TUBA4A sequesters the cardiac transcription factor YAP in the cytoplasm, inhibiting heart regeneration after myocardial infarction 2. Pathogenic TUBA4A variants disrupt microtubule organization and dynamics, causing diverse neuromuscular and developmental phenotypes 13. Originally associated with amyotrophic lateral sclerosis and frontotemporal dementia through impaired cytoskeletal integrity 4, TUBA4A variants now encompass a broader spectrum including hereditary spastic ataxia, congenital myopathy, and axial myopathies with variable onset from infancy to adulthood 13. Biallelic variants cause oocyte meiotic arrest and recurrent preimplantation embryo developmental arrest through spindle defects 5. Muscle pathology reveals protein accumulation with autophagic features, indicating broader proteostasis dysfunction 3. These findings establish TUBA4A-related disorders as myo-tubulinopathies with multisystem manifestations, underscoring TUBA4A's critical roles in neurodegeneration, myogenesis, and reproductive development.