Congenital myasthenic syndromes.

Abstract

Congenital myasthenic syndromes (CMS) result from impaired neuromuscular transmission and are due to genetic mutations in one of several genes involved in the development, function, or maintenance of the neuromuscular junction (NMJ). The clinical presentation, age of onset, and prognosis can vary significantly depending on the underlying genetic defect. Since therapeutic management should be tailored to the specific causative mutation, achieving an accurate diagnosis is essential for optimal patient care. This review summarizes the common diagnostic tests used for CMS and highlights critical features that help differentiate it from other conditions with similar presentations. Key clinical and diagnostic findings are discussed to guide clinicians in identifying potential causative mutations. Finally, we review current treatment options and explore emerging therapies that hold promise for improving patient outcomes.