LAMA2 encodes the alpha-2 chain of laminin-211, a critical basement membrane component that forms polymerizing networks essential for tissue architecture 1. The protein mediates cell attachment, migration, and tissue organization during development by interacting with integrins, dystroglycan, and other extracellular matrix components 1. Mutations in LAMA2 cause LAMA2-related muscular dystrophy (LAMA2-RD), previously known as merosin-deficient congenital muscular dystrophy type 1A (MDC1A), which represents the most common congenital muscular dystrophy subtype, accounting for 37.4% of cases 2. The disease spectrum ranges from severe neonatal hypotonia with failure to thrive to milder late-onset forms 3. LAMA2-RD presents as a multisystem disorder affecting not only muscle but also peripheral nerves through dysmyelinating neuropathy that impacts axon sorting and myelination 4. Additionally, epilepsy is a common and severe manifestation, with mean onset at 8 years, occurring earlier in patients with complete merosin deficiency 5. The LAMA2 variant database contains 486 unique variants, with 309 confirmed as disease-associated, highlighting the extensive genetic heterogeneity underlying this condition 3. Current management remains supportive, emphasizing the need for multidisciplinary care 6.