下肢明显型脊髓性肌萎缩症2A型伴双足皮肤反复破溃1例

A case of spinal muscular atrophy,lower extremity-predominant,2A(SMALED2A)with recurrent foot ulcers

下肢明显型脊髓性肌萎缩症2A型(SMALED2A)是一种主要累及下肢的脊髓性肌萎缩症,主要临床特征为幼年起病的下肢肌肉无力和萎缩。BICD2基因突变是该病的主要病因。该文报道了1例伴有双足皮肤反复破溃的SMALED2A患者,全外显子组测序显示该患者BICD2基因的5’非翻译区存在chr9∶95527083_A>AGCC插入突变。

Spinal muscular atrophy,lower extremity-predominant,2A(SMALED2A)is a form of spinal muscular atrophy,which predominantly affects muscles of the lower extremity,characterized by early childhood onset of muscle weakness and atrophy.This disorder is caused by mutation in the BICD2 gene.This paper reports a case of SMALED2A with recurrent skin ulceration of both feet.Whole exome sequencing of this case revealed a chr9∶95527083_A>AGCC insertion mutation in the 5’UTR of BICD2 gene.