Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1): Are We Diagnosing Yet?Funding None.
The spectrum of disorders associated with the IGHMBP2 (immunoglobulin μ-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.
Keywordsspectrum - IGHMBP2 - spinal muscular atrophy with respiratory distress type 1 - Charcot–Marie–Tooth type 2S - criteria
C.R. and P.P. involved in the patient management and prepared the initial draft of manuscript. B.S. and G.K. involved in the patient management and reviewed the literature. D.C. involved in the analysis of muscle and nerve biopsy specimens and critical review of the document. A.G.S. and R.S. were involved in conceptualization and critically reviewing the manuscript and also editing the final version of the manuscript. All authors approved the manuscript for submission.
Written informed consent was obtained from parents.
Eingereicht: 13. Oktober 2020
Angenommen: 12. November 2020
06. Januar 2021 (online)
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