Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency
2018 ◽
Vol 07
(03)
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pp. 159-162
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Keyword(s):
AbstractSpinal 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.
Keyword(s):
2007 ◽
Vol 46
(8)
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pp. 576-576
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2004 ◽
Vol 46
(08)
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2006 ◽
Vol 32
(11)
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pp. 1851-1855
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Keyword(s):
2019 ◽
Vol 520
(2)
◽
pp. 341-346
2019 ◽
Vol 321
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pp. 113041
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