All issues > Volume 32(5); 1989

Original Article

J Korean Pediatr Soc. 1989;32(5):718-723. Published online May 31, 1989.

Spinal Muscular Atrophy Type 2 in Siblings.

Jeong Sam Jeon¹, Dong Hub Lee¹, Byung Soo Cho¹, Sa Jun Chung¹, Chang Il Ahn¹

¹Department of Pediatrics, College Medicine, Kyung Hee University, Seoul, Korea

Received: July 12, 1988;  Accepted: November 5, 1988.

Abstract

We experienced two cases of spinal muscular atrophy, type 2 in 1 year 11 months old boy and 4 year 1 month old girl with the complaint of progressive muscular weakness on both lower extremities (frog leg position). Their development had been almost normal since birth and they could stand alone briefly at 12 months of age, but progressive muscular weakness had been apparent since then. Dignosis was based on clinical pictures, EMG, muscle biopsy. A review of literatures was also attempted briefly.

Keywords :Spinal muscular atrophy type 2, Floppy infant