TY - JOUR AU - Habibi Zoham, Mojdeh; Eghbalkhah, Asgar; Kamrani, Kamyar; Khosroshahi, Nahid; Yousefimanesh, Hossein; Eskandarizadeh, Zahra TI - Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency SN - 2146-4618 SN - 2146-4626 PY - 2018 JO - J Pediatr Intensive Care JF - Journal of Pediatric Intensive Care LA - EN VL - 07 IS - 03 SP - 159 EP - 162 ET - 2018/01/04 DA - 2018/08/13 KW - respiratory insufficiency KW - spinal muscular atrophy KW - diaphragmatic paralysis AB - Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder that involves the anterior horn motor neurons. It is a disease with a poor prognosis presenting with progressive distal motor weakness and respiratory insufficiency from diaphragmatic paralysis followed by distal muscle weakness before 6 months of age. With the intent to spread the awareness of this rare and life-threatening disease, we report a 2.5-month-old female infant with a subsequent diagnosis of SMARD1, who was admitted in our pediatric intensive care unit with chief complaint of progressive respiratory distress and poor feeding. PB - Georg Thieme Verlag KG DO - 10.1055/s-0037-1617434 UR - http://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0037-1617434 ER -