Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1): Are We Diagnosing Yet?

被引：0
|
作者：
Reddy, Chaithanya [1 ]
Paria, Pradip [1 ]
Chatterjee, Debajyoti [2 ]
Saini, Arushi G. [1 ]
Suthar, Renu [1 ]
Singanamalla, Bhanudeep [1 ]
Kochar, Gurpreet [3 ]
机构：
[1] Postgrad Inst Med Educ & Res, Dept Pediat, Pediat Neurol Unit, Madhya Marg,Sect 12, Chandigarh 160012, India
[2] Postgrad Inst Med Educ & Res, Dept Histopathol, Chandigarh, India
[3] Satguru Partap Singh Hosp, Dept Pediat Neurol, Ludhiana, Punjab, India
来源：
JOURNAL OF PEDIATRIC NEUROLOGY | 2021年 / 19卷 / 06期
关键词：
spectrum; IGHMBP2; spinal muscular atrophy with respiratory distress type 1; Charcot-Marie-Tooth type 2S; criteria; DIAPHRAGMATIC WEAKNESS; PHENOTYPES; NEUROPATHY;
D O I：
10.1055/s-0040-1721800
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The spectrum of disorders associated with the IGHMBP2 (immunoglobulin mu-binding protein 2) gene pathogenic variants is still unknown. We discuss here an interesting case of genetically confirmed spinal muscular atrophy with respiratory distress type 1 (SMARD1) with atypical sparing of the diaphragm, thus expanding the phenotypic spectrum of this intriguing disorder and also highlight the importance of reconsidering the selection criteria for considering IGHMBP2 pathogenic variants.
引用
收藏
页码：428 / 431
页数：4
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