A case of spinal muscular atrophy, lower extremity-predominant, 2A(SMALED2A) with recurrent foot ulcers
10.3760/cma.j.cn114453-20210714-00303
- VernacularTitle: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
- Author:
Zewei ZHANG
1
;
Shuchen GU
;
Xin HUANG
;
Yixuan ZHAO
;
Yunhan LIU
;
Yimin KHOONG
;
Shenying LUO
;
Guangshuai LI
;
Tao ZAN
Author Information
1. 上海交通大学医学院附属第九人民医院整复外科，上海 200011
- Keywords:
Muscular atrophy, spinal;
Spinal muscular atrophy, lower extremity-predominant, 2A (SMALED2A);
Gene mutation;
Wound healing;
BICD2 gene
- From:
Chinese Journal of Plastic Surgery
2022;38(12):1397-1400
- CountryChina
- Language:Chinese
-
Abstract:
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.
