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CASE REPORT article

Front. Neurol.
Sec. Neurogenetics
Volume 15 - 2024 | doi: 10.3389/fneur.2024.1289625

Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1

Provisionally accepted
Chaoai Zhou Chaoai Zhou *Zefu Chen Zefu Chen *Qingqing Chen Qingqing Chen Xiaowei Feng Xiaowei Feng *
  • Hainan General Hospital, Haikou, Hainan Province, China

The final, formatted version of the article will be published soon.

    A rare autosomal recessive genetic disease is spinal muscular atrophy with respiratory distress type 1 (SMARD 1; OMIM #604320), which is characterized by progressive distal limb muscle weakness, muscular atrophy, and early onset of respiratory failure. Herein, we report the case of a 4-month-old female infant with SMARD type 1 who was admitted to our hospital owing to unexplained distal limb muscle weakness and early respiratory failure. This report summarizes the characteristics of SMARD type 1 caused by heterozygous variation in the immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene by analyzing its clinical manifestations, genetic variation characteristics, and related examinations, aiming to deepen clinicians' understanding of the disease, assisting pediatricians in providing medical information to parents and improving the decision-making process involved in establishing life support.

    Keywords: SMARD1, IGHMBP2, neuromuscular genetic disease, symmetrical distal limb weakness, respiratory failure

    Received: 06 Sep 2023; Accepted: 10 May 2024.

    Copyright: © 2024 Zhou, Chen, Chen and Feng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Chaoai Zhou, Hainan General Hospital, Haikou, 570311, Hainan Province, China
    Zefu Chen, Hainan General Hospital, Haikou, 570311, Hainan Province, China
    Xiaowei Feng, Hainan General Hospital, Haikou, 570311, Hainan Province, China

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