Congenital myopathies are a heterogenous group of inherited muscle disorders which are typically present at birth or in the first two years of life. They present with reduced fetal movements, polyhydramnios, hypotonia, weakness, respiratory distress, feeding difficulties and delayed motor milestones. Centronuclear myopathy-5 (CNM5) is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. It is histologically characterized by a high incidence of nuclei located centrally and internally in muscle fibers. This is a clinical case of a newborn presenting with refractory respiratory distress, reduced spontaneous activity, generalised hypotonia, weak cry, poor suck, incomplete Moro reflex, and equal and reactive pupils. The baby was put on ventilator and a detailed workup was done. A diagnosis of centronuclear myopathy was made.

hypotonia, congenital myopathy, respiratory distress .