Clinical and Experimental Pediatrics

Original Article

Survival analysis of spinal muscular atrophy type I

Hyun Bin Park, Soon Min Lee, Jin Sung Lee, Min Soo Park, Kook In Park, Ran Namgung, Chul Lee

Clin Exp Pediatr. 2010;53(11):965-970. Published online November 30, 2010

Purpose

The life expectancy of patients with spinal muscular atrophy (SMA) type I is generally considered to be less than 2 years. Recently, with the introduction of proactive treatments, a longer survival and an improved survival rate have been reported. In this study, we analyzed the natural courses and survival statistics of SMA type I patients and compared the clinical characteristics...

DOI: https://doi.org/10.3345/kjp.2010.53.11.965

Case Report

Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves

Ran Lee, Sochung Chung, Sung-Eun Koh, In Kyu Lee, Jongmin Lee

Clin Exp Pediatr. 2008;51(12):1350-1354. Published online December 15, 2008

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5 (5q11.2-13.3). SMA has been considered as a pure lower motor neuron disorder, and a definitive diagnosis can be established by molecular genetic testing. Here, we describe two patients with severe...

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Original Article

Spinal Muscular Atrophy Type 2 in Siblings.

Jeong Sam Jeon, Dong Hub Lee, Byung Soo Cho, Sa Jun Chung, Chang Il Ahn

Clin Exp Pediatr. 1989;32(5):718-723. Published online May 31, 1989

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...

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