scholarly journals The Xq22 Inversion Breakpoint Interrupted a Novel Ras-Like GTPase Gene in a Patient with Duchenne Muscular Dystrophy and Profound Mental Retardation

2002 ◽  
Vol 71 (3) ◽  
pp. 637-645 ◽  
Author(s):  
Fumiko Saito-Ohara ◽  
Yoji Fukuda ◽  
Masahiro Ito ◽  
Kishan Lal Agarwala ◽  
Masaharu Hayashi ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Inversion Breakpoint ◽  
Profound Mental Retardation

scholarly journals Mental Retardation and Lifetime Events of Duchenne Muscular Dystrophy in Japan

2008 ◽  
Vol 47 (13) ◽  
pp. 1207-1210 ◽  
Author(s):  
Hitoshi Mochizuki ◽  
Satoko Miyatake ◽  
Mikiya Suzuki ◽  
Toshiki Shigeyama ◽  
Kana Yatabe ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy

scholarly journals Duchenne Muscular Dystrophy (DMD) with Severe Cardiomyopathy

2018 ◽  
Vol 6 (2) ◽  
Author(s):  
Ji Hyoung Park ◽  
Kwang Ho Lee ◽  
Wi Kwang Wang ◽  
Hyun Kyo Lim
Keyword(s):  
Heart Rate ◽  
Cardiac Arrest ◽  
Mental Retardation ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Sudden Cardiac Arrest ◽  
Proper Function ◽  
Organ Perfusion ◽  
Severe Mental Retardation ◽  
Successful Resuscitation

Duchenne muscular dystrophy (DMD) is a progressive myopathy. The development of respiratory therapy has increased the life expectancy of DMD patients. This change has increased the chances of anesthesia administration in DMD patients with advanced cardiomyopathy. We report a severe cardiomyopathy case in a 14-year-old boy with DMD, adrenal insufficiency, and severe mental retardation, who experienced a sudden cardiac arrest with successful resuscitation. The patient underwent feeding gastrostomy surgery to relieve recurrent aspiration pneumonia, during which cardiac index and heart rate decreased. Cardiomyopathy has emerged as a new challenge in DMD patients; it is important to maintain end organ perfusion by proper function of the left ventricle.

A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

1992 ◽  
Vol 2 (2) ◽  
pp. 117-120 ◽  
Author(s):  
Debora Rapaport ◽  
Maria Rita Passos-Bueno ◽  
Reinaldo Issao Takata ◽  
Simone Campiotto ◽  
Sabine Eggers ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Duchenne Muscular Dystrophy Gene ◽  
The Brain

Multifocal glial nodules in a case of Duchenne muscular dystrophy with severe mental retardation

1999 ◽  
Vol 19 (3) ◽  
pp. 322-327
Author(s):  
Kyoko Itoh ◽  
Kenji Jinnai ◽  
Kazuo Tada ◽  
Kiyokazu Hara ◽  
Hiroshi Itoh ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Severe Mental Retardation ◽  
Glial Nodules

Multifocal glial nodules in a case of Duchenne muscular dystrophy with severe mental retardation

1999 ◽  
Vol 19 (3) ◽  
pp. 322-327 ◽  
Author(s):  
Kyoko Itoh ◽  
Kenji Jinnai ◽  
Kazuo Tada ◽  
Kiyokazu Hara ◽  
Hiroshi Itoh ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Severe Mental Retardation ◽  
Glial Nodules
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