Diagnostic value of electrophysiological examinations in infantile spinal muscular atrophy / 临床神经病学杂志

ABSTRACT

Objective To explore electrophysiological features of infantile spinal muscular atrophy (SMA), and to evaluate diagnostic value of electrophysiological examinations in patients with SMA.Methods Tweenty-seven SMA children from Jan 2011 to Nov 2015 diagnosed in Wuxi People''s Hospital were enralled.All patients had neurogenic changes by EMG and finally confirmed by genetic test as SMA.Basic clinical data were retrospectively analyzed.Nerve conduction velocity was tested in each patient;While EMG was performed in no less than six muscles in each patient.Results All these patients were characterized by progressive flaccid paralysis in limbs.In all cases, amplitude of CMAP in median nerve was significantly decreased, apparent decreased in ulnar nerve and peroneal nerve;while mild decrease of MCV was appeared in ulnar nerve.Nothing abnormal were detected in sensory nerve conduction.EMG demonstrated neurogenic damage.Conclusion Typical clinical symptoms of infantile SMA are progressive symmetrical loss of muscle control and atrophy in limbs, and specificity electrophysiological representation provides very important basis for the diagnosis.