scholarly journals P10‐16: A novel mutation in SEPN 1 gene causing rigid spinal muscular dystrophy presenting as diaphragmatic dysfunction and respiratory failure in adulthood

Respirology ◽  
2021 ◽  
Vol 26 (S3) ◽  
pp. 403-404
Keyword(s):  
Respiratory Failure ◽  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Diaphragmatic Dysfunction ◽  
Spinal Muscular Dystrophy

Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome

2013 ◽  
Vol 29 (11) ◽  
pp. 1436-1440 ◽  
Author(s):  
Roshan Koul ◽  
Saif Al-Yarubi ◽  
Hussein Al-Kindy ◽  
Amna Al-Futaisi ◽  
Khalid Al-Thihli ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Rigid Spine Syndrome ◽  
Spinal Muscular Dystrophy

Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene

2014 ◽  
Vol 24 (6) ◽  
pp. 529-532 ◽  
Author(s):  
Ulrike Bonati ◽  
Nina Bechtel ◽  
Karl Heinimann ◽  
Erich Rutz ◽  
Jacques Schneider ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy ◽  
Lmna Gene

scholarly journals Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

Gene ◽  
2014 ◽  
Vol 539 (2) ◽  
pp. 279-282 ◽  
Author(s):  
Samira Ismail ◽  
Ashleigh E. Schaffer ◽  
Rasim O. Rosti ◽  
Joseph G. Gleeson ◽  
Maha S. Zaki
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Congenital Muscular Dystrophy

Muscular Dystrophy

2018 ◽  
Author(s):  
Renee Kreeger ◽  
James P. Spaeth
Keyword(s):  
Respiratory Failure ◽  
Muscular Dystrophy ◽  
Complex Disease ◽  
Perioperative Period ◽  
Volatile Anesthetics ◽  
Tube Placement ◽  
Percutaneous Endoscopic Gastrostomy Tube ◽  
Collaborative Approach ◽  
Endoscopic Gastrostomy ◽  
Gastrostomy Tube Placement

Duchenne muscular dystrophy (DMD) is a complex disease characterized by multiple physiologic perturbations, progressively leading to cardiomyopathy, respiratory failure, and, eventually, death. Patients with DMD create unique challenges for the anesthesia team, including management of a difficult airway, avoidance of volatile anesthetics and succinylcholine, the need for respiratory support, and discussion of advance directives. A thorough and multidisciplinary collaborative approach must be utilized in the care of these patients for the entire perioperative period. This chapter uses a case example of a 17-year-old boy with DMD who presents for preoperative anesthesia consultation in anticipation of percutaneous endoscopic gastrostomy tube placement.

scholarly journals Facioscapulohumeral muscular dystrophy and respiratory failure; what about the diaphragm?

2015 ◽  
Vol 14 ◽  
pp. 37-39
Author(s):  
A. Hazenberg ◽  
N. van Alfen ◽  
N.B.M. Voet ◽  
H.A.M. Kerstjens ◽  
P.J. Wijkstra
Keyword(s):  
Respiratory Failure ◽  
Muscular Dystrophy ◽  
Facioscapulohumeral Muscular Dystrophy

A japanese family carrying a novel mutation in the emery-dreifuss muscular dystrophy gene

1997 ◽  
Vol 41 (3) ◽  
pp. 399-402 ◽  
Author(s):  
Yaeko Ichikawa ◽  
Masahiko Watanabe ◽  
Hisatomo Kowa ◽  
Shigeo Murayama ◽  
Takehiko Mizuno ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Novel Mutation ◽  
Japanese Family
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