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J Coll Physicians Surg Pak · Dec 2021
Case ReportsSpinal Muscular Atrophy with Respiratory Distress
Type 1: A Novel Variant of IGHMBP2 Gene.- Muhammad Saeed, Walid Fawzy, Saeed Al-Tala, Tayseer Adel Magid, and Hala Ahmed.
- Department of Pediatric Medicine, King Fahad Armed Forces Hospital, Khamis Mushait, Saudi Arabia.
- J Coll Physicians Surg Pak. 2021 Dec 1; 31 (12): 1494-1496.
AbstractSpinal muscular atrophy (SMA) with respiratory distress type 1 (SMARD1) is an exceptionally rare type of SMA. It results from disintegration of alpha motor neurons of the spinal cord. Clinically, children affected with this disorder present between the age of six weeks to six months with respiratory distress and hypotonia. Most of the children die before the age of 13 months. Here, we report a new variant in a female infant with SMARD1 having a novel IGHMBP2 gene mutation. Despite supportive treatment, she died at the age of 5 months in hospital. To the best of our knowledge, the variant has not been described in the literature so far. Key Words: Spinal muscular atrophy with respiratory distress type-1 (SMARD1), Hypotonia, respiratory distress, infants.
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