Abstract: Objective To investigate the clinical features of spinal muscular atrophy type Ⅱ.Methods The data of clinical manifestation,laboratory data, onset, diagnosis, and rehabilitation of 53 outpatients suffering from spinal muscular atrophy type Ⅱ (SMA-Ⅱ) were analyzed. Results Among 53 patients with SMA-Ⅱ confirmed by molecular genetic tests, 27 patients were male while 26 were female. The mean age was 3.35 years (ranged 0.75~7.8 years), and the age receiving gene diagnosis was 17.27 months. Only 15% had a family history,and abnormalities were found in 23% patients' mothers during pregnancy. 83.4% of them had water choke cough, while 87% expectoration weakness. None of them had cough assist machines and had regular spirometry monitoring. 53% of the patients took semi-liquid diet, however,none of them used stomach tube. Symmetrical flaccid paralysis was so remarkable, even muscle strength of lower limbs in 87.7% of these patients were only grades 1-2. 92% had scoliosis, while 83% had tendon contracture. EMG showed extensive neurogenic changes. All children did not accept normal pre-school education, and 85% patients did not accept formal rehabilitation. Conclusion Most of phenotype of SMA-Ⅱ for the children was similar and more severe in China. Most of the patient didn't get formal education, rehabilitation and care.

Key words: spinal muscular atrophy, clinical feature, rehabilitation