All issues > Volume 35(12); 1992

Original Article

J Korean Pediatr Soc. 1992;35(12):1728-1736. Published online December 15, 1992.

Clinical Study on Spinal Muscular Atrophies

Soo Ahn SA Chae¹, Yong Seung YS Hwang¹

¹Department of Pediatrics, Seoul National Universty College of Medicine, Seoul, Korea

Abstract

Spinal muscular atrophies (SMA) are degenerative diseases of motor neurons that begin in fetal life and continue to be progressive in infancy and childhood. Since Werdnig's description of Type 1 SMA in 1891, numerous clinical and experimental studies have been carried out in America and Europe. Few cases were reported about these diseases in Korea but there was no systemic analysis on this disease entity. So we tried clinical analysis on 20 patients of spinal muscular atrophies who were admitted to the Pediatric department of SNUCH from June 1981 till May 1991. The results were as follows: 1) Eleven patients were female, 9 patients male, therefore the ratio of female to male was 1.2:l. A positive family history was obtained in only 2(10%) of patients. 2) The age at onset was at newborn in 5 patients (25%), within 2 months of age in 9 patients (45%),and within 1 year of age in 19 patients (95%). 3) Nine of the patients had Type 1 SMA, 8 had Type 2 and 3 had Type 3. 4) The first noticed symptoms were generalized weakness (13 patients, 65%), inability to stand or walk (5 patients, 25%), weak cry (4 patients, 20%), inability to lift the head (4 patients, 20%), respiratory difficulty (2 patients, 10%), swallowing difficulty (1 patient, 5%) and abdominal distension (1 patient, 5%). 5) Fasciculation of tongue occurred in 9 patients (45%). 5 patients (56%) had Type 1 SMA, 3 patients (33%) Type 2 and 1 patient (11%) Type 3. 6) Nine patients had deformities. Six (67%) of 9 patients had the thoracic deformities. 7) CPK was elevated in 2 patients, LDH in 4 patients, SGOT in 5 patients and SGPT in 2 patients. 8) The neurophysiologic examinations were done in 16 patients. The result showed neuropathy in 12 patients (75%) and normal finding in the remaining 4. 9) Muscle biopsy revealed neurogenic atrophy in all 20 patients. 10) The follow-up was possible in 10 patients. Five of them were Type 1 SMA and died of pulmonary problems, which were respiratory failure (3 patients), aspiration pneumonia (1 patient), and pneumothorax (1 patient). The age at death varied from 3 months of age to 10 months of age.

Keywords :Clinical analysis, Spinal muscular atrophies