Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1): Are We Diagnosing Yet?-Reference-Cited by-同舟云学术

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

Published:2021-01-06 Issue:06 Volume:19 Page:428-431
ISSN:1304-2580
Container-title:Journal of Pediatric Neurology
language:en
Short-container-title:Journal of Pediatric Neurology

Author:

Reddy Chaithanya¹,Paria Pradip¹,Chatterjee Debajyoti²,Saini Arushi G.¹^ORCID,Suthar Renu¹,Singanamalla Bhanudeep¹,Kochar Gurpreet³

Affiliation:

1. Department of Pediatrics, Pediatric Neurology Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India

2. Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

3. Department of Pediatric Neurology, Satguru Partap Singh Hospital, Ludhiana, Punjab, India

Abstract

AbstractThe spectrum of disorders associated with the IGHMBP2 (immunoglobulin μ-binding protein 2) gene pathogenic variants is still unknown. In this case report, we discussed 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.

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1721800.pdf

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