Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion

2004 ◽  
Vol 107 (5) ◽  
pp. 475-478 ◽  
Author(s):  
M. A. Garc�a-Cabezas ◽  
A. Garc�a-Alix ◽  
Y. Mart�n ◽  
M. Guti�rrez ◽  
C. Hern�ndez ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Respiratory Insufficiency ◽  
Bone Fractures ◽  
Muscular Atrophy

scholarly journals Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

2016 ◽  
Vol 98 (3) ◽  
pp. 473-489 ◽  
Author(s):  
Ellen Knierim ◽  
Hiromi Hirata ◽  
Nicole I. Wolf ◽  
Susanne Morales-Gonzalez ◽  
Gudrun Schottmann ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Bone Fractures ◽  
Muscular Atrophy

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

2010 ◽  
Vol 14 (3) ◽  
pp. 253-260 ◽  
Author(s):  
Maciej Pronicki ◽  
Paweł Kowalski ◽  
Dorota Piekutowska-Abramczuk ◽  
Joanna Taybert ◽  
Agnieszka Karkucinska-Wieckowska ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Respiratory Insufficiency ◽  
Muscular Atrophy ◽  
Homozygous Mutation

scholarly journals Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency

2018 ◽  
Vol 07 (03) ◽  
pp. 159-162 ◽  
Author(s):  
Asgar Eghbalkhah ◽  
Kamyar Kamrani ◽  
Nahid Khosroshahi ◽  
Hossein Yousefimanesh ◽  
Zahra Eskandarizadeh ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Respiratory Insufficiency ◽  
Muscular Atrophy ◽  
Pediatric Intensive Care ◽  
Neuromuscular Disorder ◽  
Weaning Failure ◽  
Life Threatening

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.

scholarly journals Congenital Bone Fractures in Spinal Muscular Atrophy: Functional Role for SMN Protein in Bone Remodeling

2007 ◽  
Vol 22 (8) ◽  
pp. 967-973 ◽  
Author(s):  
Srinivasan Shanmugarajan ◽  
Kathryn J. Swoboda ◽  
Susan T. Iannaccone ◽  
William L. Ries ◽  
Bernard L. Maria ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Bone Remodeling ◽  
Functional Role ◽  
Bone Fractures ◽  
Muscular Atrophy ◽  
Smn Protein

Neonatal Spinal Muscular Atrophy Type 1 With Bone Fractures and Heart Defect

2007 ◽  
Vol 22 (1) ◽  
pp. 67-70 ◽  
Author(s):  
Eve Vaidla ◽  
Inga Talvik ◽  
Andres Kulla ◽  
Hiljar Sibul ◽  
Katre Maasalu ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Bone Fractures ◽  
Muscular Atrophy ◽  
Spinal Muscular Atrophy Type ◽  
Heart Defect
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