ABSTRACT
Objective To investigate the clinical features and genetic tests of a case with congenital muscular dystrophy type 1A (MDC1A). Methods Clinical data of proband were collected, and genetic change were tested using next generation sequencing, and literatures pertinent to the epidemiology, mechanisms, especially genetic testing of lisencephaly were reviewed. Results A 5 year and 2 month old boy present with normal intelligence and delayed motor development, he can be sit alone but not walk at two years old. Physical examination showed normal mental reaction, muscular dystrophy, hypotonia, and joint contracture at early age. From biochemical tests, we found creatine kinase (CK) and CK-MB were increased (491U/L, 41.8U/L). EMG test suggested possible muscle-derived damage. Brain MRI showed white matter abnormality. And a heterozygous mutation (c.2045-2046delAG) inherited from his mother in LAMA2 gene, and another novel heterozygous mutation (del Exon5) inherited from his father were identified by genetic test. Conclusions LAMA2 gene deficiency can lead to MDC1A, and gene testing can help diagnosis.