Facioscapulo humeral muscular dystrophy

Abstract

Facioscapulo humeral muscular dystrophy (FSHD) is a rare type of myopathy and differs clinically and genetically from Duchenne muscular dystrophy. It is an autosomal dominant disorder and as the name designates it has the characteristic distribution of the weakness. The face is almost always affected. Progression of the disease is slow and symptoms begin in adolescence but signs may be evident in children. We present a case of facioscapulo humeral muscular dystrophy in a 14 year old girl & the case was sporadic in nature.