Literature DB >> 28099279

New Survival Target for Duchenne Muscular Dystrophy.

Marcello Villanova1, Sifa Kazibwe.   

Abstract

We report a patient with a typical phenotype and clinical history of Duchenne muscular dystrophy who is currently 53 years old. Because of improvements in cardiopulmonary care, there has been a great improvement in survival and preservation of quality of life for many of these patients. Whereas it is no longer rare to find patients with Duchenne muscular dystrophy living into their fifth decade, this is the first report of a patient in his sixth decade of life. We believe that besides use of continuous noninvasive respiratory support, the fortuitous absence of dilated cardiomyopathy associated with the particular point mutation of his dystrophin gene has permitted prolonged survival.

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Year:  2017        PMID: 28099279     DOI: 10.1097/PHM.0000000000000569

Source DB:  PubMed          Journal:  Am J Phys Med Rehabil        ISSN: 0894-9115            Impact factor:   2.159


  3 in total

Review 1.  Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy.

Authors:  Kay Ohlendieck; Dieter Swandulla
Journal:  Pflugers Arch       Date:  2021-09-22       Impact factor: 4.458

2.  A sandwich ELISA kit reveals marked elevation of titin N-terminal fragment levels in the urine of mdx mice.

Authors:  Taku Shirakawa; Ayumu Ikushima; Nobuhiro Maruyama; Yoshinori Nambu; Hiroyuki Awano; Kayo Osawa; Kei Nirasawa; Yoichi Negishi; Hisahide Nishio; Shoji Fukushima; Masafumi Matsuo
Journal:  Animal Model Exp Med       Date:  2022-02-03

Review 3.  Noninvasive Respiratory Management of Patients With Neuromuscular Disease.

Authors:  John R Bach
Journal:  Ann Rehabil Med       Date:  2017-08-31
  3 in total

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