EMERY–DREIFUSS MUSCULAR DYSTROPHY: A DIFFICULT  DIAGNOSIS

Agarwalla Sunil K; Mishra Pravakar; Mishra Shubhankar

Volume : VI, Issue : I, January - 2016

EMERY–DREIFUSS MUSCULAR DYSTROPHY: A DIFFICULT DIAGNOSIS

Agarwalla Sunil K, Mishra Pravakar, Mishra Shubhankar

Abstract :

The Emery–Dreifuss muscular dystrophy is a form of dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear memane of the muscular fibers. A 11 year old male child came with complaint of chest pain. He was having muscle weakness and hypotrophy of limb muscles as long as contracture of limb. Electrocardiogram shows av block. CPK borderline raised and muscle biopsy disclosed features of muscular dystrophy.