Thelansis

 Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by congenital myopathy clinical features and centrally placed nuclei on muscle biopsy. Mutations in the DNM2, BIN1, or TTN genes primarily cause it. The DNM2 and BIN1 gene products play roles in the cellular process of endocytosis, which involves the uptake of substances into the cell. These congenital myopathies manifest with generalized muscle weakness ranging from mild to severe. In severe cases, symptoms often present at birth, but onset can occur at any point in life, though it's uncommon in adulthood. The diagnosis is established based on typical histological findings, which include central nuclei, muscle fiber hypotrophy, and a predominance of type I fibers. Key differential diagnoses involve other congenital myopathies or neuromuscular conditions presenting with severe neonatal hypotonia. Managing CNM necessitates a multidisciplinary approach, as no specific therapy is available, although var...